Supplementary table 4 List of analysed mutations obtained from…

Supplementary table 4 List of analysed mutations obtained from… Supplementary table 4: List of analysed mutations obtained from publicly available databases, BTKbase, CD40Lbase and SwissProt Name Accession number Original residue Mutant residue ABO P16442 P S ABO P16442 F I ABO P16442 V M AGXT P21549 P L AGXT P21549 G R AGXT P21549 G V AGXT P21549 G E AGXT P21549 G R AGXT P21549 F I AGXT P21549 G R AGXT P21549 G R AGXT P21549 D N AGXT P21549 S F AGXT P21549 S P AGXT P21549 R C AGXT P21549 R H AGXT P21549 I T AGXT P21549 I M ARSB P15848 S F ARSB P15848 T M ARSB P15848 R Q ARSB P15848 P H ARSB P15848 G V ARSB P15848 M I ARSB P15848 G R ARSB P15848 W L ARSB P15848 W R ARSB P15848 W S ARSB P15848 R W ARSB P15848 R Q ARSB P15848 c R ARSB P15848 Y C ARSB P15848 L P ARSB P15848 Q R ARSB P15848 G R ARSB P15848 W C ARSB P15848 R Q ARSB P15848 L P ARSB P15848 H P ARSB P15848 F L ARSB P15848 R G ARSB P15848 L P ARSB P15848 P R ASL P04424 R C ASL P04424 R W ASL P04424 V M ASL P04424 R Q ASL P04424 R C ASL P04424 R C BTK Q06187 L P BTK Q06187 K R BTK Q06187 S F BTK Q06187 K E BTK Q06187 K E BTK Q06187 F S BTK Q06187 K R BTK Q06187 L S BTK Q06187 L W BTK Q06187 T I BTK Q06187 T P BTK Q06187 Y C BTK Q06187 Y S BTK Q06187 Y C BTK Q06187 Y N BTK Q06187 I N BTK Q06187 V D BTK Q06187 V F BTK Q06187 P S BTK Q06187 F V BTK Q06187 L R BTK Q06187 Y H BTK Q06187 V D BTK Q06187 V F BTK Q06187 S F BTK Q06187 T P BTK Q06187 W C BTK Q06187 Q H BTK Q06187 C G BTK Q06187 C S BTK Q06187 C G BTK Q06187 C R BTK Q06187 C Y BTK Q06187 C Y BTK Q06187 L P BTK Q06187 G R BTK Q06187 Y H BTK Q06187 I N BTK Q06187 K E BTK Q06187 K R BTK Q06187 E D BTK Q06187 L P BTK Q06187 H R BTK Q06187 G D BTK Q06187 G V BTK Q06187 Y D BTK Q06187 M R BTK Q06187 L P BTK Q06187 L V BTK Q06187 M T BTK Q06187 C F BTK Q06187 C W BTK Q06187 D V BTK Q06187 C F BTK Q06187 C R BTK Q06187 C Y BTK Q06187 A D BTK Q06187 M I BTK Q06187 M I BTK Q06187 M V BTK Q06187 L P BTK Q06187 L Q BTK Q06187 L R BTK Q06187 R G BTK Q06187 R Q BTK Q06187 D G BTK Q06187 D H BTK Q06187 D N BTK Q06187 A E BTK Q06187 R G BTK Q06187 R P BTK Q06187 R Q BTK Q06187 N K BTK Q06187 C F BTK Q06187 C S BTK Q06187 V F BTK Q06187 V E BTK Q06187 S P BTK Q06187 G D BTK Q06187 L P BTK Q06187 R G BTK Q06187 R K BTK Q06187 R S BTK Q06187 F S BTK Q06187 R P BTK Q06187 R W BTK Q06187 W L BTK Q06187 P L BTK Q06187 P S BTK Q06187 E D BTK Q06187 E K BTK Q06187 L P BTK Q06187 S R BTK Q06187 S Y BTK Q06187 W R BTK Q06187 A V BTK Q06187 F S BTK Q06187 G E BTK Q06187 G R BTK Q06187 V F BTK Q06187 M L BTK Q06187 M T BTK Q06187 W C BTK Q06187 E D BTK Q06187 E G BTK Q06187 E K BTK Q06187 Y S BTK Q06187 S P BTK Q06187 S Y BTK Q06187 G E BTK Q06187 G R BTK Q06187 G R BTK Q06187 P T BTK Q06187 Y C BTK Q06187 Y D BTK Q06187 Y S BTK Q06187 T P BTK Q06187 A D BTK Q06187 Q P BTK Q06187 G D BTK Q06187 R P BTK Q06187 R S BTK Q06187 L F BTK Q06187 L I BTK Q06187 P A BTK Q06187 P L BTK Q06187 P S BTK Q06187 P T BTK Q06187 A P BTK Q06187 S L BTK Q06187 V G BTK Q06187 M K BTK Q06187 M T BTK Q06187 C Y BTK Q06187 W S BTK Q06187 R C BTK Q06187 R H BTK Q06187 T I BTK Q06187 F L BTK Q06187 F S BTK Q06187 L P BTK Q06187 L R BTK Q06187 L P BTK Q06187 L P CBS P35520 P L CBS P35520 R W CBS P35520 H R CBS P35520 P R CBS P35520 G R CBS P35520 P S CBS P35520 L P CBS P35520 K N CBS P35520 K Q CBS P35520 C R CBS P35520 A V CBS P35520 G R CBS P35520 R C CBS P35520 R H CBS P35520 R L CBS P35520 R Q CBS P35520 R W CBS P35520 M V CBS P35520 E D CBS P35520 E D CBS P35520 G R CBS P35520 I M CBS P35520 E K CBS P35520 P L CBS P35520 G R CBS P35520 G R CBS P35520 I M CBS P35520 A T CBS P35520 C Y CBS P35520 V M CBS P35520 E K CBS P35520 V A CBS P35520 T M CBS P35520 R H CBS P35520 A T CBS P35520 N K CBS P35520 D N CBS P35520 E K CBS P35520 T M CBS P35520 T M CBS P35520 T R CBS P35520 R G CBS P35520 R K CBS P35520 I T CBS P35520 P L CBS P35520 E K CBS P35520 G R CBS P35520 G S CBS P35520 V A CBS P35520 A E CBS P35520 A V CBS P35520 R C CBS P35520 R H CBS P35520 L P CBS P35520 G S CBS P35520 S N CBS P35520 S N CBS P35520 T M CBS P35520 V M CBS P35520 A P CBS P35520 R C CBS P35520 R H CBS P35520 C Y CBS P35520 V M CBS P35520 D N CBS P35520 R Q CBS P35520 K E CBS P35520 K N CBS P35520 M I CD40LG P29965 G R CD40LG P29965 A E CD40LG P29965 H R CD40LG P29965 V A CD40LG P29965 W C CD40LG P29965 W G CD40LG P29965 W R CD40LG P29965 G E CD40LG P29965 T N CD40LG P29965 L P CD40LG P29965 Y C CD40LG P29965 Y H CD40LG P29965 A D CD40LG P29965 Q R CD40LG P29965 T I CD40LG P29965 L P CD40LG P29965 T N CD40LG P29965 S F CD40LG P29965 G V CD40LG P29965 L S CD40LG P29965 A P CD40LG P29965 V E CD40LG P29965 G A CD40LG P29965 T M CD40LG P29965 G D CD40LG P29965 G S CD40LG P29965 L S CFTR P13569 A E CFTR P13569 V F CFTR P13569 G V CFTR P13569 E Q CFTR P13569 I M CFTR P13569 I V CFTR P13569 D G CFTR P13569 V F CFTR P13569 G V CFTR P13569 S I CFTR P13569 S N CFTR P13569 S R CFTR P13569 G D CFTR P13569 G S CFTR P13569 L S CFTR P13569 A T CFTR P13569 R K CFTR P13569 R S CFTR P13569 R T CFTR P13569 V I CFTR P13569 V L CFTR P13569 Y N CFTR P13569 Y C CFTR P13569 Y D CFTR P13569 Y H CFTR P13569 L S CFTR P13569 D N CFTR P13569 P H CFTR P13569 G A CFTR P13569 D G CFTR P13569 L S CFTR P13569 A T CFTR P13569 D G CFTR P13569 I T CFTR P13569 L S CFTR P13569 H P CFTR P13569 H Q CFTR P13569 G D CFTR P13569 G R CFTR P13569 L P CFTR P13569 D N CFTR P13569 T S CFTR P13569 R C CHEK2 O96017 R C CHEK2 O96017 R H CHEK2 O96017 R C CHEK2 O96017 R H CHEK2 O96017 R G CHEK2 O96017 R Q CHEK2 O96017 R P CHEK2 O96017 R W CHEK2 O96017 I T CHEK2 O96017 G R DCX O43602 S R DCX O43602 K N DCX O43602 R H DCX O43602 D N DCX O43602 G E DCX O43602 A S DCX O43602 R H DCX O43602 R L DCX O43602 D H DCX O43602 R G DCX O43602 L R DCX O43602 G A DCX O43602 R S DCX O43602 I T DCX O43602 Y D DCX O43602 Y H CYB5R3 P00387 S P CYB5R3 P00387 L P CYB5R3 P00387 A V CYB5R3 P00387 C R CYB5R3 P00387 C Y CYB5R3 P00387 R Q CYB5R3 P00387 L P CYB5R3 P00387 V M EDA Q92838 H L EDA Q92838 H Y EDA Q92838 G C EDA Q92838 G D EDA Q92838 G V EDA Q92838 W G EDA Q92838 G R EDA Q92838 G W EDA Q92838 D H EDA Q92838 G S EDA Q92838 F S EDA Q92838 C Y EDA Q92838 A T EDA Q92838 A D EDA Q92838 R P EDA Q92838 T M F8 P00451 G V F8 P00451 E D F8 P00451 I T F8 P00451 I N F8 P00451 A P F8 P00451 A P F8 P00451 P L F8 P00451 R G F8 P00451 R L F8 P00451 R P F8 P00451 R Q F8 P00451 V M F8 P00451 W C F8 P00451 W S F8 P00451 V A F8 P00451 V E F8 P00451 M V F8 P00451 T A F8 P00451 Q R F8 P00451 F C F8 P00451 F I F8 P00451 I T F8 P00451 W L F8 P00451 G V F8 P00451 D A F8 P00451 P L F8 P00451 P S F8 P00451 R C F8 P00451 R G F8 P00451 R H F8 P00451 R G F8 P00451 R L F8 P00451 R P F8 P00451 R Q F8 P00451 Q P F8 P00451 W R F8 P00451 R T F8 P00451 G C F8 P00451 G S G6PD P11413 V L G6PD P11413 H R G6PD P11413 A G G6PD P11413 I T G6PD P11413 V M G6PD P11413 Y H G6PD P11413 L P G6PD P11413 R C G6PD P11413 R H G6PD P11413 S C G6PD P11413 N D G6PD P11413 L P G6PD P11413 G V G6PD P11413 E K G6PD P11413 G D G6PD P11413 G S G6PD P11413 N D G6PD P11413 R H G6PD P11413 D G G6PD P11413 D V G6PD P11413 R W G6PD P11413 S F G6PD P11413 R C G6PD P11413 R P G6PD P11413 M V G6PD P11413 V L G6PD P11413 F L G6PD P11413 R L G6PD P11413 R Q G6PD P11413 R G G6PD P11413 E K G6PD P11413 S F G6PD P11413 T S G6PD P11413 D H G6PD P11413 R H G6PD P11413 V M G6PD P11413 E K G6PD P11413 Y H G6PD P11413 L P G6PD P11413 A T G6PD P11413 L F G6PD P11413 P S G6PD P11413 N K G6PD P11413 C R G6PD P11413 K E G6PD P11413 R C G6PD P11413 R H G6PD P11413 R H G6PD P11413 V L G6PD P11413 P L G6PD P11413 E K G6PD P11413 G C G6PD P11413 G D G6PD P11413 E K G6PD P11413 R P G6PD P11413 L F G6PD P11413 G R G6PD P11413 Q H G6PD P11413 R C G6PD P11413 R H G6PD P11413 R H G6PD P11413 G V GCH1 P30793 L Q GCH1 P30793 A V GCH1 P30793 L P GCH1 P30793 G A GCH1 P30793 R P GCH1 P30793 R W GCH1 P30793 G V GCH1 P30793 M K GCH1 P30793 M R GCH1 P30793 G D GCH1 P30793 D N GCH1 P30793 D V GCH1 P30793 I K GCH1 P30793 C R GCH1 P30793 C W GCH1 P30793 H P GCH1 P30793 H P GCH1 P30793 L R GCH1 P30793 S T GCH1 P30793 R S GCH1 P30793 Q R GCH1 P30793 R H GCH1 P30793 T K GCH1 P30793 V I GCH1 P30793 P L GCH1 P30793 G E GCH1 P30793 G R GCH1 P30793 M I GCH1 P30793 M V GCH1 P30793 M V GCH1 P30793 M T GCH1 P30793 K R GCH1 P30793 F S GCH1 P30793 R W GCH1 P30793 R S GLA P06280 L P GLA P06280 N S GLA P06280 G R GLA P06280 P L GLA P06280 P S GLA P06280 M V GLA P06280 H R GLA P06280 H Y GLA P06280 W G GLA P06280 R L GLA P06280 R P GLA P06280 R S GLA P06280 E K GLA P06280 E Q GLA P06280 M V GLA P06280 G D GLA P06280 Y C GLA P06280 L P GLA P06280 L R GLA P06280 I T GLA P06280 D H GLA P06280 D Y GLA P06280 D G GLA P06280 W S GLA P06280 A V GLA P06280 R K GLA P06280 R T GLA P06280 R C GLA P06280 R H GLA P06280 F L GLA P06280 F S GLA P06280 G E GLA P06280 L P GLA P06280 Y S GLA P06280 G R GLA P06280 A P GLA P06280 A T GLA P06280 G V GLA P06280 P S GLA P06280 S N GLA P06280 S R GLA P06280 A T GLA P06280 A V GLA P06280 W C GLA P06280 W R GLA P06280 G V GLA P06280 D V GLA P06280 L V GLA P06280 D V GLA P06280 G D GLA P06280 M V GLA P06280 P T GLA P06280 N S GLA P06280 Y D GLA P06280 N D GLA P06280 N S GLA P06280 W R GLA P06280 R Q GLA P06280 A T GLA P06280 D N GLA P06280 S C GLA P06280 W C GLA P06280 W L GLA P06280 I N GLA P06280 D H GLA P06280 D N GLA P06280 G R GLA P06280 P L GLA P06280 P R GLA P06280 G A GLA P06280 G D GLA P06280 N S GLA P06280 D V GLA P06280 P R GLA P06280 D H GLA P06280 D N GLA P06280 D V GLA P06280 M I GLA P06280 V A GLA P06280 N K GLA P06280 Q E GLA P06280 Q H GLA P06280 Q H GLA P06280 M T GLA P06280 W C GLA P06280 W G GLA P06280 A D GLA P06280 I F GLA P06280 M I GLA P06280 M V GLA P06280 S F GLA P06280 N H GLA P06280 N K GLA P06280 N S GLA P06280 R Q GLA P06280 D Y GLA P06280 V E GLA P06280 N K GLA P06280 N Y GLA P06280 Q E GLA P06280 Q K GLA P06280 G A GLA P06280 G R GLA P06280 W R GLA P06280 E K GLA P06280 R Q GLA P06280 R W GLA P06280 E K GLA P06280 G R GLA P06280 R H GLA P06280 G D GLA P06280 G S GLA P06280 A D GLA P06280 P A GLA P06280 P T GLA P06280 T A GUSB P08236 R W GUSB P08236 A V GUSB P08236 R C GUSB P08236 R W GUSB P08236 A V GUSB P08236 W C HBB P68871 E K HBB P68871 E V HBB P68871 E G HBB P68871 S C HBB P68871 A V HBB P68871 V D HBB P68871 V I HBB P68871 L R HBB P68871 W R HBB P68871 G D HBB P68871 V M HBB P68871 N S HBB P68871 D H HBB P68871 D N HBB P68871 E A HBB P68871 E K HBB P68871 A D HBB P68871 A S HBB P68871 G D HBB P68871 R S HBB P68871 L P HBB P68871 L R HBB P68871 L V HBB P68871 L V HBB P68871 V D HBB P68871 V F HBB P68871 V L HBB P68871 Y F HBB P68871 P S HBB P68871 P T HBB P68871 T N HBB P68871 F L HBB P68871 E Q HBB P68871 S C HBB P68871 F S HBB P68871 V D HBB P68871 K E HBB P68871 A D HBB P68871 V M HBB P68871 L P HBB P68871 G V HBB P68871 L P HBB P68871 A D HBB P68871 H Y HBB P68871 G D HBB P68871 A D HBB P68871 T K HBB P68871 L P HBB P68871 E K HBB P68871 L P HBB P68871 L R HBB P68871 H N HBB P68871 H P HBB P68871 H Q HBB P68871 L P HBB P68871 L V HBB P68871 H Q HBB P68871 V G HBB P68871 D E HBB P68871 N Y HBB P68871 F L HBB P68871 R T HBB P68871 V M HBB P68871 L P HBB P68871 C F HBB P68871 C Y HBB P68871 L P HBB P68871 A D HBB P68871 H R HBB P68871 H Y HBB P68871 E K HBB P68871 E Q HBB P68871 E V HBB P68871 T I HBB P68871 V G HBB P68871 Q E HBB P68871 A D HBB P68871 A P HBB P68871 A V HBB P68871 Q K HBB P68871 Q P HBB P68871 Q R HBB P68871 K N HBB P68871 A P HBB P68871 G D HBB P68871 A P HBB P68871 A T HBB P68871 A V HBB P68871 L R HBB P68871 H D HBB P68871 Y C HBB P68871 H L HBB P68871 H P HBB P68871 H Q HGD Q93099 L P HGD Q93099 E A HGD Q93099 W G HGD Q93099 Y C HGD Q93099 W G HGD Q93099 A D HGD Q93099 D G HGD Q93099 G R HGD Q93099 E K HGD Q93099 S I HGD Q93099 I T HGD Q93099 R H HGD Q93099 F S HGD Q93099 P S HGD Q93099 P T HGD Q93099 G R HGD Q93099 D E HGD Q93099 V G HGD Q93099 R S HGD Q93099 H R HPRT1 P00492 G D HPRT1 P00492 V G HPRT1 P00492 G D HPRT1 P00492 G S HPRT1 P00492 D V HPRT1 P00492 C W HPRT1 P00492 L P HPRT1 P00492 I F HPRT1 P00492 I T HPRT1 P00492 R K HPRT1 P00492 R H HPRT1 P00492 A P HPRT1 P00492 A V HPRT1 P00492 R G HPRT1 P00492 R P HPRT1 P00492 D G HPRT1 P00492 V A HPRT1 P00492 V M HPRT1 P00492 M L HPRT1 P00492 M T HPRT1 P00492 G R HPRT1 P00492 H R HPRT1 P00492 G E HPRT1 P00492 G R HPRT1 P00492 D V HPRT1 P00492 S R HPRT1 P00492 S L HPRT1 P00492 V D HPRT1 P00492 L S HPRT1 P00492 I M HPRT1 P00492 I T HPRT1 P00492 D G HPRT1 P00492 M K HPRT1 P00492 A S HPRT1 P00492 S R HPRT1 P00492 T I HPRT1 P00492 P L HPRT1 P00492 D V HPRT1 P00492 D Y HPRT1 P00492 I T HPRT1 P00492 V A HPRT1 P00492 D E HPRT1 P00492 D N HPRT1 P00492 Y C HPRT1 P00492 F V HPRT1 P00492 D G HPRT1 P00492 D N HPRT1 P00492 D Y HPRT1 P00492 H D HPRT1 P00492 H R HPRT1 P00492 C Y INSR P06213 G V INSR P06213 A V INSR P06213 A D INSR P06213 K E INSR P06213 R W INSR P06213 I T INSR P06213 R Q INSR P06213 R W INSR P06213 A T INSR P06213 A E INSR P06213 M I INSR P06213 R Q INSR P06213 R Q INSR P06213 R W INSR P06213 P L INSR P06213 E D INSR P06213 E K INSR P06213 W L INSR P06213 W S LMNA P02545 R W LMNA P02545 G D LMNA P02545 I T LMNA P02545 R C LMNA P02545 R L LMNA P02545 R Q LMNA P02545 R W LMNA P02545 K N LMNA P02545 R C LMNA P02545 R H LMNA P02545 R P LMNA P02545 T K LMNA P02545 L P NF2 P35240 N Y NF2 P35240 L R OAT P04181 N K OAT P04181 Y H OAT P04181 N K OAT P04181 Q E OAT P04181 C F OAT P04181 R L OAT P04181 R T OAT P04181 P L OAT P04181 Y C OAT P04181 R P OAT P04181 T I OAT P04181 A P OAT P04181 R K OAT P04181 H Y OAT P04181 V M OAT P04181 G D OAT P04181 G A OAT P04181 C R OAT P04181 L P OAT P04181 P L OAT P04181 L F OTC P00480 G C OTC P00480 R C OTC P00480 R H OTC P00480 L F OTC P00480 T I OTC P00480 L P OTC P00480 L V OTC P00480 N I OTC P00480 G R OTC P00480 Y D OTC P00480 M T OTC P00480 S L OTC P00480 L P OTC P00480 G E OTC P00480 G D OTC P00480 G R OTC P00480 E K OTC P00480 K N OTC P00480 S R OTC P00480 R Q OTC P00480 T A OTC P00480 R T OTC P00480 G D OTC P00480 A E OTC P00480 H L OTC P00480 H R OTC P00480 T M OTC P00480 D G OTC P00480 R H OTC P00480 L S OTC P00480 A P OTC P00480 R P OTC P00480 R Q OTC P00480 L F OTC P00480 I T OTC P00480 I S OTC P00480 N S OTC P00480 G R OTC P00480 H Q OTC P00480 H R OTC P00480 I F OTC P00480 I M OTC P00480 A P OTC P00480 Y C OTC P00480 T M OTC P00480 Q H OTC P00480 E G OTC P00480 H L OTC P00480 Y C OTC P00480 Y D OTC P00480 G R OTC P00480 G V OTC P00480 L F OTC P00480 S R OTC P00480 G R OTC P00480 D V OTC P00480 D Y OTC P00480 G E OTC P00480 G R OTC P00480 N K OTC P00480 L P OTC P00480 H Y OTC P00480 S C OTC P00480 M I OTC P00480 M R OTC P00480 S R OTC P00480 A T OTC P00480 A V OTC P00480 M K OTC P00480 H Y OTC P00480 Q E OTC P00480 P A OTC P00480 P L OTC P00480 P R OTC P00480 P T OTC P00480 T I OTC P00480 L Q OTC P00480 T K OTC P00480 H P OTC P00480 T K OTC P00480 D G OTC P00480 D N OTC P00480 T A OTC P00480 T I OTC P00480 W L OTC P00480 S R OTC P00480 M T OTC P00480 G E OTC P00480 R Q OTC P00480 R W OTC P00480 L F OTC P00480 H L OTC P00480 H Q OTC P00480 H Y OTC P00480 C R OTC P00480 C Y OTC P00480 L F OTC P00480 P H OTC P00480 R L OTC P00480 E K OTC P00480 R G OTC P00480 A S OTC P00480 V L OTC P00480 V L OTC P00480 S P OTC P00480 L P OTC P00480 T K OTC P00480 Y C OTC P00480 Y D OTC P00480 F C PAH P00439 T I PAH P00439 D Y PAH P00439 D G PAH P00439 D V PAH P00439 H Y PAH P00439 G S PAH P00439 D H PAH P00439 Y N PAH P00439 R P PAH P00439 R Q PAH P00439 R W PAH P00439 Q P PAH P00439 F S PAH P00439 I T PAH P00439 N I PAH P00439 N S PAH P00439 R H PAH P00439 H D PAH P00439 H R PAH P00439 G A PAH P00439 G R PAH P00439 P T PAH P00439 I T PAH P00439 I V PAH P00439 P A PAH P00439 R L PAH P00439 R P PAH P00439 V L PAH P00439 E G PAH P00439 E Q PAH P00439 V A PAH P00439 L P PAH P00439 H R PAH P00439 H Y PAH P00439 E A PAH P00439 Y D PAH P00439 N D PAH P00439 N S PAH P00439 P T PAH P00439 L P PAH P00439 L P PAH P00439 C G PAH P00439 G V PAH P00439 E G PAH P00439 D V PAH P00439 I M PAH P00439 P R PAH P00439 P T PAH P00439 V I PAH P00439 S F PAH P00439 S P PAH P00439 F L PAH P00439 T P PAH P00439 G S PAH P00439 F S PAH P00439 R C PAH P00439 R H PAH P00439 R L PAH P00439 L F PAH P00439 R Q PAH P00439 P L PAH P00439 V A PAH P00439 V E PAH P00439 V L PAH P00439 A D PAH P00439 G V PAH P00439 L P PAH P00439 L F PAH P00439 R G PAH P00439 R Q PAH P00439 R W PAH P00439 L S PAH P00439 L V PAH P00439 G C PAH P00439 A T PAH P00439 A V PAH P00439 R P PAH P00439 R Q PAH P00439 F L PAH P00439 H L PAH P00439 C G PAH P00439 I L PAH P00439 R K PAH P00439 R S PAH P00439 H Y PAH P00439 S F PAH P00439 K E PAH P00439 M I PAH P00439 M V PAH P00439 Y C PAH P00439 Y D PAH P00439 T A PAH P00439 T N PAH P00439 E K PAH P00439 P L PAH P00439 D N PAH P00439 I F PAH P00439 I N PAH P00439 R C PAH P00439 R H PAH P00439 F C PAH P00439 A S PAH P00439 A V PAH P00439 S P PAH P00439 Q R PAH P00439 I V PAH P00439 A D PAH P00439 A V PAH P00439 S F PAH P00439 L P PAH P00439 P H PAH P00439 I T PAH P00439 A G PAH P00439 A T PAH P00439 Y C PAH P00439 E D PAH P00439 F L PAH P00439 L F PAH P00439 C S PAH P00439 G V PAH P00439 D Y PAH P00439 K R PAH P00439 K T PAH P00439 A T PAH P00439 Y C PAH P00439 G R PAH P00439 G V PAH P00439 A S PAH P00439 A T PAH P00439 L F PAH P00439 L V PAH P00439 S L PAH P00439 S P PAH P00439 S T PAH P00439 C G PAH P00439 P T PAH P00439 P H PAH P00439 T S PAH P00439 Y C PAH P00439 T M PAH P00439 Y C PAH P00439 Y H PAH P00439 V L PAH P00439 V M PAH P00439 E G PAH P00439 D A PAH P00439 D H PAH P00439 A G PAH P00439 A P PAH P00439 A V PAH P00439 P S PAH P00439 R Q PAH P00439 R W PAH P00439 F S PAH P00439 R P PAH P00439 R S PAH P00439 Y C PAH P00439 D N PAH P00439 T P PAX6 P26367 N S PAX6 P26367 G W PAX6 P26367 R G PAX6 P26367 I S PAX6 P26367 I V PAX6 P26367 A P PAX6 P26367 I S PAX6 P26367 S P PAX6 P26367 R Q PAX6 P26367 V L PAX6 P26367 T P PAX6 P26367 G V PAX6 P26367 P S PAX6 P26367 A E PAX6 P26367 I R PAX6 P26367 P R PAX6 P26367 S R PAX6 P26367 V D PAX6 P26367 R C PDHA1 P08559 R C PDHA1 P08559 H D PDHA1 P08559 G R PDHA1 P08559 V M PDHA1 P08559 A T PDHA1 P08559 F L PDHA1 P08559 P L PDHA1 P08559 T A PDHA1 P08559 Y N PDHA1 P08559 D A PDHA1 P08559 R G PDHA1 P08559 R Q PDHA1 P08559 H L PDHA1 P08559 R C PDHA1 P08559 R H PDHA1 P08559 D N PKLR P30613 S P PKLR P30613 R P PKLR P30613 I N PKLR P30613 G R PKLR P30613 M T PKLR P30613 G R PKLR P30613 A P PKLR P30613 S F PKLR P30613 S Y PKLR P30613 V D PKLR P30613 I T PKLR P30613 L P PKLR P30613 G V PKLR P30613 R C PKLR P30613 E Q PKLR P30613 I T PKLR P30613 G A PKLR P30613 G R PKLR P30613 G W PKLR P30613 G R PKLR P30613 D N PKLR P30613 F V PKLR P30613 V L PKLR P30613 D N PKLR P30613 A V PKLR P30613 I N PKLR P30613 I T PKLR P30613 E K PKLR P30613 D E PKLR P30613 D N PKLR P30613 G S PKLR P30613 V M PKLR P30613 A S PKLR P30613 R P PKLR P30613 R Q PKLR P30613 D H PKLR P30613 G A PKLR P30613 G D PKLR P30613 I F PKLR P30613 K N PKLR P30613 A D PKLR P30613 I T PKLR P30613 R C PKLR P30613 R H PKLR P30613 N D PKLR P30613 G D PKLR P30613 V F PKLR P30613 S I PKLR P30613 T M PKLR P30613 E G PKLR P30613 D N PKLR P30613 A T PKLR P30613 N K PKLR P30613 N S PKLR P30613 A D PKLR P30613 A V PKLR P30613 T A PKLR P30613 T I PKLR P30613 Q K PKLR P30613 R Q PKLR P30613 R W PKLR P30613 E A PKLR P30613 E D PKLR P30613 A T PKLR P30613 G D PKLR P30613 A V PKLR P30613 V M PKLR P30613 A G PKLR P30613 A V PKLR P30613 T A PKLR P30613 R H PKLR P30613 S F PKLR P30613 R W PKLR P30613 R Q PKLR P30613 R W PKLR P30613 A T PKLR P30613 A V PKLR P30613 R H PKLR P30613 R L PKLR P30613 V I PKLR P30613 R Q PKLR P30613 G R PKLR P30613 R C PKLR P30613 R Q PKLR P30613 R W PKLR P30613 V M PKLR P30613 G A PKLR P30613 R G PKLR P30613 N K PRNP P04156 M V PRNP P04156 G V PRNP P04156 D N PRNP P04156 V I PRNP P04156 T A PRNP P04156 H R PRNP P04156 T K PRNP P04156 T R PRNP P04156 E K PRNP P04156 F S PRNP P04156 E K PRNP P04156 D N PRNP P04156 V I PRNP P04156 R H PRNP P04156 V I PRNP P04156 E Q PRNP P04156 Q P PRNP P04156 Q R PRNP P04156 E K RB1 P06400 K Q RB1 P06400 A G RB1 P06400 K R RB1 P06400 H Y RB1 P06400 S L RB1 P06400 V E RB1 P06400 L P RB1 P06400 R W RB1 P06400 L P RB1 P06400 Q P RB1 P06400 C Y RB1 P06400 C R SLC4A1 P02730 K E SLC4A1 P02730 E K SLC4A1 P02730 P S SLC4A1 P02730 A D SLC4A1 P02730 P R SOD1 P00441 A S SOD1 P00441 A T SOD1 P00441 A V SOD1 P00441 V E SOD1 P00441 L Q SOD1 P00441 G R SOD1 P00441 V G SOD1 P00441 V M SOD1 P00441 G S SOD1 P00441 E G SOD1 P00441 E K SOD1 P00441 G R SOD1 P00441 L R SOD1 P00441 L V SOD1 P00441 G D SOD1 P00441 G S SOD1 P00441 H R SOD1 P00441 F C SOD1 P00441 H R SOD1 P00441 H Q SOD1 P00441 E K SOD1 P00441 N S SOD1 P00441 L R SOD1 P00441 G S SOD1 P00441 D Y SOD1 P00441 L F SOD1 P00441 L V SOD1 P00441 G R SOD1 P00441 N S SOD1 P00441 A V SOD1 P00441 D A SOD1 P00441 D V SOD1 P00441 G A SOD1 P00441 G C SOD1 P00441 G D SOD1 P00441 G R SOD1 P00441 G V SOD1 P00441 E G SOD1 P00441 E K SOD1 P00441 D G SOD1 P00441 D N SOD1 P00441 I F SOD1 P00441 L V SOD1 P00441 G V SOD1 P00441 D N SOD1 P00441 I M SOD1 P00441 I T SOD1 P00441 I T SOD1 P00441 R G SOD1 P00441 D V SOD1 P00441 D H SOD1 P00441 L S SOD1 P00441 S N SOD1 P00441 N K SOD1 P00441 L F SOD1 P00441 L S SOD1 P00441 A T SOD1 P00441 V G SOD1 P00441 V I SOD1 P00441 I T SOD1 P00441 I T SRY Q05066 V A SRY Q05066 V L SRY Q05066 R G SRY Q05066 M I SRY Q05066 M R SRY Q05066 F V SRY Q05066 I T SRY Q05066 R S SRY Q05066 M T SRY Q05066 N Y SRY Q05066 I M SRY Q05066 S G SRY Q05066 G E SRY Q05066 G R SRY Q05066 L H SRY Q05066 K I SRY Q05066 P R SRY Q05066 F S SRY Q05066 A T SRY Q05066 Y C SRY Q05066 Y F SRY Q05066 P R SRY Q05066 R W TCF1 P20823 L R TCF1 P20823 K E TCF1 P20823 Y C TCF1 P20823 I N TCF1 P20823 P T TCF1 P20823 R Q TCF1 P20823 R W TCF1 P20823 V M TCF1 P20823 S F TCF1 P20823 H Y TCF1 P20823 K N TCF1 P20823 R Q TCF1 P20823 R W TCF1 P20823 A T TCF1 P20823 R C TCF1 P20823 R H TCF1 P20823 K Q TCF1 P20823 R Q TCF1 P20823 C G TCF1 P20823 L M TCF1 P20823 V D TCF1 P20823 T M TCF1 P20823 R C TCF1 P20823 R W TCF1 P20823 R C TCF1 P20823 R H THRB P10828 A T THRB P10828 R W THRB P10828 R H THRB P10828 R C THRB P10828 R H THRB P10828 G R THRB P10828 R W THRB P10828 Q H THRB P10828 K I THRB P10828 G R THRB P10828 G S THRB P10828 G V THRB P10828 G E THRB P10828 V E THRB P10828 T I THRB P10828 R H THRB P10828 M V THRB P10828 K E THRB P10828 C R THRB P10828 P H THRB P10828 P S THRB P10828 P T TNNI3 P19429 P S TNNI3 P19429 A V TNNI3 P19429 R P TNNI3 P19429 K E TNNI3 P19429 R Q TP53 P04637 M T TP53 P04637 A P TP53 P04637 C Y TP53 P04637 P S TP53 P04637 P T TP53 P04637 P L TP53 P04637 G V TP53 P04637 R G TP53 P04637 R H TP53 P04637 Y C TP53 P04637 R G TP53 P04637 R H TP53 P04637 R L TP53 P04637 H R TP53 P04637 Y C TP53 P04637 M I TP53 P04637 S F TP53 P04637 G C TP53 P04637 G D TP53 P04637 G S TP53 P04637 G V TP53 P04637 R G TP53 P04637 R Q TP53 P04637 R W TP53 P04637 L P TP53 P04637 E K TP53 P04637 V L TP53 P04637 R C TP53 P04637 R G TP53 P04637 R H TP53 P04637 C Y TP53 P04637 P L TP53 P04637 P S TP53 P04637 R K TP53 P04637 D V TP53 P04637 R H TP53 P04637 E A UROD P06132 G E UROD P06132 F L UROD P06132 P L UROD P06132 A G UROD P06132 A S UROD P06132 R Q UROD P06132 R P UROD P06132 G D UROD P06132 L Q UROD P06132 M R UROD P06132 E K UROD P06132 R P UROD P06132 L F UROD P06132 L Q UROD P06132 E K UROD P06132 S F UROD P06132 H P UROD P06132 F L UROD P06132 F L UROD P06132 P S UROD P06132 L Q UROD P06132 I T UROD P06132 G E UROD P06132 G V UROD P06132 L R UROD P06132 R G UROD P06132 G S UROD P06132 N K UROD P06132 Y C UROD P06132 G R UROD P06132 M T UROD P06132 R H UROD P06132 I T UROS P10746 V F UROS P10746 L F UROS P10746 Y C UROS P10746 P L UROS P10746 T A UROS P10746 A V UROS P10746 A T UROS P10746 C R UROS P10746 V F UROS P10746 V A UROS P10746 A V UROS P10746 I T UROS P10746 G R UROS P10746 G W UROS P10746 S P UROS P10746 I S UROS P10746 G S UROS P10746 T M VDR P11473 G D VDR P11473 H Q VDR P11473 K E VDR P11473 G D VDR P11473 F I VDR P11473 R Q VDR P11473 R Q VDR P11473 R Q VDR P11473 R C VHL P40337 S L VHL P40337 S W VHL P40337 S W VHL P40337 V G VHL P40337 F I VHL P40337 F L VHL P40337 F S VHL P40337 N H VHL P40337 N S VHL P40337 N T VHL P40337 R P VHL P40337 S I VHL P40337 S N VHL P40337 S R VHL P40337 P S VHL P40337 R P VHL P40337 V L VHL P40337 P A VHL P40337 P L VHL P40337 P R VHL P40337 P S VHL P40337 W R VHL P40337 W S VHL P40337 L P VHL P40337 G D VHL P40337 G S VHL P40337 Q P VHL P40337 Y H VHL P40337 L R VHL P40337 G A VHL P40337 T P VHL P40337 R P VHL P40337 S C VHL P40337 S N VHL P40337 S R VHL P40337 Y H VHL P40337 G C VHL P40337 G R VHL P40337 H Q VHL P40337 H R VHL P40337 H Y VHL P40337 L V VHL P40337 W C VHL P40337 L P VHL P40337 L R VHL P40337 F L VHL P40337 F S VHL P40337 D G VHL P40337 L F VHL P40337 V L VHL P40337 N T VHL P40337 F C VHL P40337 F S VHL P40337 A T VHL P40337 P L VHL P40337 Y C VHL P40337 Y D VHL P40337 T I VHL P40337 L P VHL P40337 L V VHL P40337 K E VHL P40337 R G VHL P40337 R P VHL P40337 R Q VHL P40337 C F VHL P40337 C R VHL P40337 C W VHL P40337 C Y VHL P40337 Q H VHL P40337 Q R VHL P40337 V D VHL P40337 V F VHL P40337 R G VHL P40337 R Q VHL P40337 R W VHL P40337 V D VHL P40337 V F VHL P40337 V G VHL P40337 Y D VHL P40337 L P VHL P40337 L Q VHL P40337 I V VHL P40337 L P VHL P40337 L R VHL P40337 E K VHL P40337 L P VHL P40337 L Q VHL P40337 L V VHL P40337 L R VHL P40337 R W All the other mutations were obtained from HGMD. For the full list please contact the authors.