Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.101083701T>CCA611946220NALCNc.3583+10A>G (n.3583+10A>G)
c.3304+10A>G (n.3304+10A>G)
c.3670+10A>G (n.3670+10A>G)
c.3496+10A>G (n.3496+10A>G)
c.3640+10A>G (n.3640+10A>G)
c.3553+10A>G (n.3553+10A>G)
c.3361+10A>G (n.3361+10A>G)
c.3136+10A>G (n.3136+10A>G)
c.2818+10A>G (n.2818+10A>G)
c.3727+10A>G (n.3727+10A>G)
 dbSNP gnomAD v2 gnomAD v4
13g.101083701T=CA2114389766NALCNc.3583+10A= (n.3583+10A=)
c.3304+10A= (n.3304+10A=)
c.3670+10A= (n.3670+10A=)
c.3496+10A= (n.3496+10A=)
c.3640+10A= (n.3640+10A=)
c.3553+10A= (n.3553+10A=)
c.3361+10A= (n.3361+10A=)
c.3136+10A= (n.3136+10A=)
c.2818+10A= (n.2818+10A=)
c.3727+10A= (n.3727+10A=)
13g.101083704delCA2623578682NALCNc.3583+10del (n.3583+10del)
c.3304+10del (n.3304+10del)
c.3670+10del (n.3670+10del)
c.3496+10del (n.3496+10del)
c.3640+10del (n.3640+10del)
c.3553+10del (n.3553+10del)
c.3361+10del (n.3361+10del)
c.3136+10del (n.3136+10del)
c.2818+10del (n.2818+10del)
c.3727+10del (n.3727+10del)
 gnomAD v4
13g.101083702T>CCA2553982586NALCNc.3583+9A>G (n.3583+9A>G)
c.3304+9A>G (n.3304+9A>G)
c.3670+9A>G (n.3670+9A>G)
c.3496+9A>G (n.3496+9A>G)
c.3640+9A>G (n.3640+9A>G)
c.3553+9A>G (n.3553+9A>G)
c.3361+9A>G (n.3361+9A>G)
c.3136+9A>G (n.3136+9A>G)
c.2818+9A>G (n.2818+9A>G)
c.3727+9A>G (n.3727+9A>G)
13g.101083702T>GCA2623578683NALCNc.3583+9A>C (n.3583+9A>C)
c.3304+9A>C (n.3304+9A>C)
c.3670+9A>C (n.3670+9A>C)
c.3496+9A>C (n.3496+9A>C)
c.3640+9A>C (n.3640+9A>C)
c.3553+9A>C (n.3553+9A>C)
c.3361+9A>C (n.3361+9A>C)
c.3136+9A>C (n.3136+9A>C)
c.2818+9A>C (n.2818+9A>C)
c.3727+9A>C (n.3727+9A>C)
 gnomAD v4
13g.101083703T>CCA2580087009NALCNc.3583+8A>G (n.3583+8A>G)
c.3304+8A>G (n.3304+8A>G)
c.3670+8A>G (n.3670+8A>G)
c.3496+8A>G (n.3496+8A>G)
c.3640+8A>G (n.3640+8A>G)
c.3553+8A>G (n.3553+8A>G)
c.3361+8A>G (n.3361+8A>G)
c.3136+8A>G (n.3136+8A>G)
c.2818+8A>G (n.2818+8A>G)
c.3727+8A>G (n.3727+8A>G)
 ClinVar
13g.101083704T>GCA611946221NALCNc.3583+7A>C (n.3583+7A>C)
c.3304+7A>C (n.3304+7A>C)
c.3670+7A>C (n.3670+7A>C)
c.3496+7A>C (n.3496+7A>C)
c.3640+7A>C (n.3640+7A>C)
c.3553+7A>C (n.3553+7A>C)
c.3361+7A>C (n.3361+7A>C)
c.3136+7A>C (n.3136+7A>C)
c.2818+7A>C (n.2818+7A>C)
c.3727+7A>C (n.3727+7A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
13g.101083704T=CA2114389767NALCNc.3583+7A= (n.3583+7A=)
c.3304+7A= (n.3304+7A=)
c.3670+7A= (n.3670+7A=)
c.3496+7A= (n.3496+7A=)
c.3640+7A= (n.3640+7A=)
c.3553+7A= (n.3553+7A=)
c.3361+7A= (n.3361+7A=)
c.3136+7A= (n.3136+7A=)
c.2818+7A= (n.2818+7A=)
c.3727+7A= (n.3727+7A=)
13g.101083705G>TCA959529232NALCNc.3583+6C>A (n.3583+6C>A)
c.3304+6C>A (n.3304+6C>A)
c.3670+6C>A (n.3670+6C>A)
c.3496+6C>A (n.3496+6C>A)
c.3640+6C>A (n.3640+6C>A)
c.3553+6C>A (n.3553+6C>A)
c.3361+6C>A (n.3361+6C>A)
c.3136+6C>A (n.3136+6C>A)
c.2818+6C>A (n.2818+6C>A)
c.3727+6C>A (n.3727+6C>A)
 gnomAD v3 gnomAD v4
13g.101083706G>ACA611946225NALCNc.3583+5C>T (n.3583+5C>T)
c.3304+5C>T (n.3304+5C>T)
c.3670+5C>T (n.3670+5C>T)
c.3496+5C>T (n.3496+5C>T)
c.3640+5C>T (n.3640+5C>T)
c.3553+5C>T (n.3553+5C>T)
c.3361+5C>T (n.3361+5C>T)
c.3136+5C>T (n.3136+5C>T)
c.2818+5C>T (n.2818+5C>T)
c.3727+5C>T (n.3727+5C>T)
 dbSNP gnomAD v2 gnomAD v4
13g.101083706G>CCA7035366NALCNc.3583+5C>G (n.3583+5C>G)
c.3304+5C>G (n.3304+5C>G)
c.3670+5C>G (n.3670+5C>G)
c.3496+5C>G (n.3496+5C>G)
c.3640+5C>G (n.3640+5C>G)
c.3553+5C>G (n.3553+5C>G)
c.3361+5C>G (n.3361+5C>G)
c.3136+5C>G (n.3136+5C>G)
c.2818+5C>G (n.2818+5C>G)
c.3727+5C>G (n.3727+5C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101083706G=CA2114389768NALCNc.3583+5C= (n.3583+5C=)
c.3304+5C= (n.3304+5C=)
c.3670+5C= (n.3670+5C=)
c.3496+5C= (n.3496+5C=)
c.3640+5C= (n.3640+5C=)
c.3553+5C= (n.3553+5C=)
c.3361+5C= (n.3361+5C=)
c.3136+5C= (n.3136+5C=)
c.2818+5C= (n.2818+5C=)
c.3727+5C= (n.3727+5C=)
13g.101083707G>ACA2518309565NALCNc.3583+4C>T (n.3583+4C>T)
c.3304+4C>T (n.3304+4C>T)
c.3670+4C>T (n.3670+4C>T)
c.3496+4C>T (n.3496+4C>T)
c.3640+4C>T (n.3640+4C>T)
c.3553+4C>T (n.3553+4C>T)
c.3361+4C>T (n.3361+4C>T)
c.3136+4C>T (n.3136+4C>T)
c.2818+4C>T (n.2818+4C>T)
c.3727+4C>T (n.3727+4C>T)
13g.101083708dupCA2623578684NALCNc.3583+3dup (n.3583+3dup)
c.3304+3dup (n.3304+3dup)
c.3670+3dup (n.3670+3dup)
c.3496+3dup (n.3496+3dup)
c.3640+3dup (n.3640+3dup)
c.3553+3dup (n.3553+3dup)
c.3361+3dup (n.3361+3dup)
c.3136+3dup (n.3136+3dup)
c.2818+3dup (n.2818+3dup)
c.3727+3dup (n.3727+3dup)
 gnomAD v4
13g.101083709A>CCA388651691NALCNc.3583+2T>G (n.3583+2T>G)
c.3304+2T>G (n.3304+2T>G)
c.3670+2T>G (n.3670+2T>G)
c.3496+2T>G (n.3496+2T>G)
c.3640+2T>G (n.3640+2T>G)
c.3553+2T>G (n.3553+2T>G)
c.3361+2T>G (n.3361+2T>G)
c.3136+2T>G (n.3136+2T>G)
c.2818+2T>G (n.2818+2T>G)
c.3727+2T>G (n.3727+2T>G)
 gnomAD v4
13g.101083709A>GCA388651692NALCNc.3583+2T>C (n.3583+2T>C)
c.3304+2T>C (n.3304+2T>C)
c.3670+2T>C (n.3670+2T>C)
c.3496+2T>C (n.3496+2T>C)
c.3640+2T>C (n.3640+2T>C)
c.3553+2T>C (n.3553+2T>C)
c.3361+2T>C (n.3361+2T>C)
c.3136+2T>C (n.3136+2T>C)
c.2818+2T>C (n.2818+2T>C)
c.3727+2T>C (n.3727+2T>C)
13g.101083709A>TCA388651693NALCNc.3583+2T>A (n.3583+2T>A)
c.3304+2T>A (n.3304+2T>A)
c.3670+2T>A (n.3670+2T>A)
c.3496+2T>A (n.3496+2T>A)
c.3640+2T>A (n.3640+2T>A)
c.3553+2T>A (n.3553+2T>A)
c.3361+2T>A (n.3361+2T>A)
c.3136+2T>A (n.3136+2T>A)
c.2818+2T>A (n.2818+2T>A)
c.3727+2T>A (n.3727+2T>A)
13g.101083710C>ACA388651694NALCNc.3583+1G>T (n.3583+1G>T)
c.3304+1G>T (n.3304+1G>T)
c.3670+1G>T (n.3670+1G>T)
c.3496+1G>T (n.3496+1G>T)
c.3640+1G>T (n.3640+1G>T)
c.3553+1G>T (n.3553+1G>T)
c.3361+1G>T (n.3361+1G>T)
c.3136+1G>T (n.3136+1G>T)
c.2818+1G>T (n.2818+1G>T)
c.3727+1G>T (n.3727+1G>T)
13g.101083710C>GCA388651695NALCNc.3583+1G>C (n.3583+1G>C)
c.3304+1G>C (n.3304+1G>C)
c.3670+1G>C (n.3670+1G>C)
c.3496+1G>C (n.3496+1G>C)
c.3640+1G>C (n.3640+1G>C)
c.3553+1G>C (n.3553+1G>C)
c.3361+1G>C (n.3361+1G>C)
c.3136+1G>C (n.3136+1G>C)
c.2818+1G>C (n.2818+1G>C)
c.3727+1G>C (n.3727+1G>C)
 gnomAD v4
13g.101083710C>TCA388651696NALCNc.3583+1G>A (n.3583+1G>A)
c.3304+1G>A (n.3304+1G>A)
c.3670+1G>A (n.3670+1G>A)
c.3496+1G>A (n.3496+1G>A)
c.3640+1G>A (n.3640+1G>A)
c.3553+1G>A (n.3553+1G>A)
c.3361+1G>A (n.3361+1G>A)
c.3136+1G>A (n.3136+1G>A)
c.2818+1G>A (n.2818+1G>A)
c.3727+1G>A (n.3727+1G>A)
 gnomAD v4
13g.101083711C>ACA388651701NALCNc.3583G>T (p.Asp1195Tyr)
c.3304G>T (p.Asp1102Tyr)
c.3670G>T (p.Asp1224Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3553G>T (p.Asp1185Tyr)
c.3361G>T (p.Asp1121Tyr)
c.3136G>T (p.Asp1046Tyr)
c.2818G>T (p.Asp940Tyr)
c.3727G>T (p.Asp1243Tyr)
13g.101083711C>GCA388651698NALCNc.3583G>C (p.Asp1195His)
c.3304G>C (p.Asp1102His)
c.3670G>C (p.Asp1224His)
c.3496G>C (p.Asp1166His)
c.3640G>C (p.Asp1214His)
c.3553G>C (p.Asp1185His)
c.3361G>C (p.Asp1121His)
c.3136G>C (p.Asp1046His)
c.2818G>C (p.Asp940His)
c.3727G>C (p.Asp1243His)
13g.101083711C>TCA388651700NALCNc.3583G>A (p.Asp1195Asn)
c.3304G>A (p.Asp1102Asn)
c.3670G>A (p.Asp1224Asn)
c.3496G>A (p.Asp1166Asn)
c.3640G>A (p.Asp1214Asn)
c.3553G>A (p.Asp1185Asn)
c.3361G>A (p.Asp1121Asn)
c.3136G>A (p.Asp1046Asn)
c.2818G>A (p.Asp940Asn)
c.3727G>A (p.Asp1243Asn)
13g.101083712C>ACA484553328NALCNc.3582G>T (p.Pro1194=)
c.3303G>T (p.Pro1101=)
c.3669G>T (p.Pro1223=)
c.3495G>T (p.Pro1165=)
c.3639G>T (p.Pro1213=)
c.3552G>T (p.Pro1184=)
c.3360G>T (p.Pro1120=)
c.3135G>T (p.Pro1045=)
c.2817G>T (p.Pro939=)
c.3726G>T (p.Pro1242=)
13g.101083712C=CA2114389769NALCNc.3582G= (p.Pro1194=)
c.3303G= (p.Pro1101=)
c.3669G= (p.Pro1223=)
c.3495G= (p.Pro1165=)
c.3639G= (p.Pro1213=)
c.3552G= (p.Pro1184=)
c.3360G= (p.Pro1120=)
c.3135G= (p.Pro1045=)
c.2817G= (p.Pro939=)
c.3726G= (p.Pro1242=)
13g.101083712C>GCA484553329NALCNc.3582G>C (p.Pro1194=)
c.3303G>C (p.Pro1101=)
c.3669G>C (p.Pro1223=)
c.3495G>C (p.Pro1165=)
c.3639G>C (p.Pro1213=)
c.3552G>C (p.Pro1184=)
c.3360G>C (p.Pro1120=)
c.3135G>C (p.Pro1045=)
c.2817G>C (p.Pro939=)
c.3726G>C (p.Pro1242=)
13g.101083712C>TCA7035367NALCNc.3582G>A (p.Pro1194=)
c.3303G>A (p.Pro1101=)
c.3669G>A (p.Pro1223=)
c.3495G>A (p.Pro1165=)
c.3639G>A (p.Pro1213=)
c.3552G>A (p.Pro1184=)
c.3360G>A (p.Pro1120=)
c.3135G>A (p.Pro1045=)
c.2817G>A (p.Pro939=)
c.3726G>A (p.Pro1242=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101083713G>ACA388651703NALCNc.3581C>T (p.Pro1194Leu)
c.3302C>T (p.Pro1101Leu)
c.3668C>T (p.Pro1223Leu)
c.3494C>T (p.Pro1165Leu)
c.3638C>T (p.Pro1213Leu)
c.3551C>T (p.Pro1184Leu)
c.3359C>T (p.Pro1120Leu)
c.3134C>T (p.Pro1045Leu)
c.2816C>T (p.Pro939Leu)
c.3725C>T (p.Pro1242Leu)
 dbSNP gnomAD v4
13g.101083713G>CCA388651705NALCNc.3581C>G (p.Pro1194Arg)
c.3302C>G (p.Pro1101Arg)
c.3668C>G (p.Pro1223Arg)
c.3494C>G (p.Pro1165Arg)
c.3638C>G (p.Pro1213Arg)
c.3551C>G (p.Pro1184Arg)
c.3359C>G (p.Pro1120Arg)
c.3134C>G (p.Pro1045Arg)
c.2816C>G (p.Pro939Arg)
c.3725C>G (p.Pro1242Arg)
13g.101083713G=CA2114389770NALCNc.3581C= (p.Pro1194=)
c.3302C= (p.Pro1101=)
c.3668C= (p.Pro1223=)
c.3494C= (p.Pro1165=)
c.3638C= (p.Pro1213=)
c.3551C= (p.Pro1184=)
c.3359C= (p.Pro1120=)
c.3134C= (p.Pro1045=)
c.2816C= (p.Pro939=)
c.3725C= (p.Pro1242=)
13g.101083713G>TCA388651707NALCNc.3581C>A (p.Pro1194Gln)
c.3302C>A (p.Pro1101Gln)
c.3668C>A (p.Pro1223Gln)
c.3494C>A (p.Pro1165Gln)
c.3638C>A (p.Pro1213Gln)
c.3551C>A (p.Pro1184Gln)
c.3359C>A (p.Pro1120Gln)
c.3134C>A (p.Pro1045Gln)
c.2816C>A (p.Pro939Gln)
c.3725C>A (p.Pro1242Gln)
 gnomAD v4
13g.101083714G>ACA388651708NALCNc.3580C>T (p.Pro1194Ser)
c.3301C>T (p.Pro1101Ser)
c.3667C>T (p.Pro1223Ser)
c.3493C>T (p.Pro1165Ser)
c.3637C>T (p.Pro1213Ser)
c.3550C>T (p.Pro1184Ser)
c.3358C>T (p.Pro1120Ser)
c.3133C>T (p.Pro1045Ser)
c.2815C>T (p.Pro939Ser)
c.3724C>T (p.Pro1242Ser)
 gnomAD v4
13g.101083714G>CCA388651709NALCNc.3580C>G (p.Pro1194Ala)
c.3301C>G (p.Pro1101Ala)
c.3667C>G (p.Pro1223Ala)
c.3493C>G (p.Pro1165Ala)
c.3637C>G (p.Pro1213Ala)
c.3550C>G (p.Pro1184Ala)
c.3358C>G (p.Pro1120Ala)
c.3133C>G (p.Pro1045Ala)
c.2815C>G (p.Pro939Ala)
c.3724C>G (p.Pro1242Ala)
13g.101083714G>TCA388651710NALCNc.3580C>A (p.Pro1194Thr)
c.3301C>A (p.Pro1101Thr)
c.3667C>A (p.Pro1223Thr)
c.3493C>A (p.Pro1165Thr)
c.3637C>A (p.Pro1213Thr)
c.3550C>A (p.Pro1184Thr)
c.3358C>A (p.Pro1120Thr)
c.3133C>A (p.Pro1045Thr)
c.2815C>A (p.Pro939Thr)
c.3724C>A (p.Pro1242Thr)
13g.101083715G>ACA484553380NALCNc.3579C>T (p.Arg1193=)
c.3300C>T (p.Arg1100=)
c.3666C>T (p.Arg1222=)
c.3492C>T (p.Arg1164=)
c.3636C>T (p.Arg1212=)
c.3549C>T (p.Arg1183=)
c.3357C>T (p.Arg1119=)
c.3132C>T (p.Arg1044=)
c.2814C>T (p.Arg938=)
c.3723C>T (p.Arg1241=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.101083715G>CCA484553381NALCNc.3579C>G (p.Arg1193=)
c.3300C>G (p.Arg1100=)
c.3666C>G (p.Arg1222=)
c.3492C>G (p.Arg1164=)
c.3636C>G (p.Arg1212=)
c.3549C>G (p.Arg1183=)
c.3357C>G (p.Arg1119=)
c.3132C>G (p.Arg1044=)
c.2814C>G (p.Arg938=)
c.3723C>G (p.Arg1241=)
13g.101083715G=CA2114389771NALCNc.3579C= (p.Arg1193=)
c.3300C= (p.Arg1100=)
c.3666C= (p.Arg1222=)
c.3492C= (p.Arg1164=)
c.3636C= (p.Arg1212=)
c.3549C= (p.Arg1183=)
c.3357C= (p.Arg1119=)
c.3132C= (p.Arg1044=)
c.2814C= (p.Arg938=)
c.3723C= (p.Arg1241=)
13g.101083715G>TCA484553382NALCNc.3579C>A (p.Arg1193=)
c.3300C>A (p.Arg1100=)
c.3666C>A (p.Arg1222=)
c.3492C>A (p.Arg1164=)
c.3636C>A (p.Arg1212=)
c.3549C>A (p.Arg1183=)
c.3357C>A (p.Arg1119=)
c.3132C>A (p.Arg1044=)
c.2814C>A (p.Arg938=)
c.3723C>A (p.Arg1241=)
 gnomAD v4
13g.101083716C>ACA388651711NALCNc.3578G>T (p.Arg1193Leu)
c.3299G>T (p.Arg1100Leu)
c.3665G>T (p.Arg1222Leu)
c.3491G>T (p.Arg1164Leu)
c.3635G>T (p.Arg1212Leu)
c.3548G>T (p.Arg1183Leu)
c.3356G>T (p.Arg1119Leu)
c.3131G>T (p.Arg1044Leu)
c.2813G>T (p.Arg938Leu)
c.3722G>T (p.Arg1241Leu)
 gnomAD v4
13g.101083716C=CA2114389772NALCNc.3578G= (p.Arg1193=)
c.3299G= (p.Arg1100=)
c.3665G= (p.Arg1222=)
c.3491G= (p.Arg1164=)
c.3635G= (p.Arg1212=)
c.3548G= (p.Arg1183=)
c.3356G= (p.Arg1119=)
c.3131G= (p.Arg1044=)
c.2813G= (p.Arg938=)
c.3722G= (p.Arg1241=)
13g.101083716C>GCA388651713NALCNc.3578G>C (p.Arg1193Pro)
c.3299G>C (p.Arg1100Pro)
c.3665G>C (p.Arg1222Pro)
c.3491G>C (p.Arg1164Pro)
c.3635G>C (p.Arg1212Pro)
c.3548G>C (p.Arg1183Pro)
c.3356G>C (p.Arg1119Pro)
c.3131G>C (p.Arg1044Pro)
c.2813G>C (p.Arg938Pro)
c.3722G>C (p.Arg1241Pro)
13g.101083716C>TCA7035368NALCNc.3578G>A (p.Arg1193His)
c.3299G>A (p.Arg1100His)
c.3665G>A (p.Arg1222His)
c.3491G>A (p.Arg1164His)
c.3635G>A (p.Arg1212His)
c.3548G>A (p.Arg1183His)
c.3356G>A (p.Arg1119His)
c.3131G>A (p.Arg1044His)
c.2813G>A (p.Arg938His)
c.3722G>A (p.Arg1241His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101083717G>ACA388651715NALCNc.3577C>T (p.Arg1193Cys)
c.3298C>T (p.Arg1100Cys)
c.3664C>T (p.Arg1222Cys)
c.3490C>T (p.Arg1164Cys)
c.3634C>T (p.Arg1212Cys)
c.3547C>T (p.Arg1183Cys)
c.3355C>T (p.Arg1119Cys)
c.3130C>T (p.Arg1044Cys)
c.2812C>T (p.Arg938Cys)
c.3721C>T (p.Arg1241Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101083717G>CCA388651717NALCNc.3577C>G (p.Arg1193Gly)
c.3298C>G (p.Arg1100Gly)
c.3664C>G (p.Arg1222Gly)
c.3490C>G (p.Arg1164Gly)
c.3634C>G (p.Arg1212Gly)
c.3547C>G (p.Arg1183Gly)
c.3355C>G (p.Arg1119Gly)
c.3130C>G (p.Arg1044Gly)
c.2812C>G (p.Arg938Gly)
c.3721C>G (p.Arg1241Gly)
13g.101083717G=CA2114389773NALCNc.3577C= (p.Arg1193=)
c.3298C= (p.Arg1100=)
c.3664C= (p.Arg1222=)
c.3490C= (p.Arg1164=)
c.3634C= (p.Arg1212=)
c.3547C= (p.Arg1183=)
c.3355C= (p.Arg1119=)
c.3130C= (p.Arg1044=)
c.2812C= (p.Arg938=)
c.3721C= (p.Arg1241=)
13g.101083717G>TCA388651718NALCNc.3577C>A (p.Arg1193Ser)
c.3298C>A (p.Arg1100Ser)
c.3664C>A (p.Arg1222Ser)
c.3490C>A (p.Arg1164Ser)
c.3634C>A (p.Arg1212Ser)
c.3547C>A (p.Arg1183Ser)
c.3355C>A (p.Arg1119Ser)
c.3130C>A (p.Arg1044Ser)
c.2812C>A (p.Arg938Ser)
c.3721C>A (p.Arg1241Ser)
13g.101083718A>CCA484553383NALCNc.3576T>G (p.Pro1192=)
c.3297T>G (p.Pro1099=)
c.3663T>G (p.Pro1221=)
c.3489T>G (p.Pro1163=)
c.3633T>G (p.Pro1211=)
c.3546T>G (p.Pro1182=)
c.3354T>G (p.Pro1118=)
c.3129T>G (p.Pro1043=)
c.2811T>G (p.Pro937=)
c.3720T>G (p.Pro1240=)
13g.101083718A>GCA484553384NALCNc.3576T>C (p.Pro1192=)
c.3297T>C (p.Pro1099=)
c.3663T>C (p.Pro1221=)
c.3489T>C (p.Pro1163=)
c.3633T>C (p.Pro1211=)
c.3546T>C (p.Pro1182=)
c.3354T>C (p.Pro1118=)
c.3129T>C (p.Pro1043=)
c.2811T>C (p.Pro937=)
c.3720T>C (p.Pro1240=)
13g.101083718A>TCA484553385NALCNc.3576T>A (p.Pro1192=)
c.3297T>A (p.Pro1099=)
c.3663T>A (p.Pro1221=)
c.3489T>A (p.Pro1163=)
c.3633T>A (p.Pro1211=)
c.3546T>A (p.Pro1182=)
c.3354T>A (p.Pro1118=)
c.3129T>A (p.Pro1043=)
c.2811T>A (p.Pro937=)
c.3720T>A (p.Pro1240=)
13g.101083719G>ACA388651720NALCNc.3575C>T (p.Pro1192Leu)
c.3296C>T (p.Pro1099Leu)
c.3662C>T (p.Pro1221Leu)
c.3488C>T (p.Pro1163Leu)
c.3632C>T (p.Pro1211Leu)
c.3545C>T (p.Pro1182Leu)
c.3353C>T (p.Pro1118Leu)
c.3128C>T (p.Pro1043Leu)
c.2810C>T (p.Pro937Leu)
c.3719C>T (p.Pro1240Leu)
13g.101083719G>CCA388651723NALCNc.3575C>G (p.Pro1192Arg)
c.3296C>G (p.Pro1099Arg)
c.3662C>G (p.Pro1221Arg)
c.3488C>G (p.Pro1163Arg)
c.3632C>G (p.Pro1211Arg)
c.3545C>G (p.Pro1182Arg)
c.3353C>G (p.Pro1118Arg)
c.3128C>G (p.Pro1043Arg)
c.2810C>G (p.Pro937Arg)
c.3719C>G (p.Pro1240Arg)
13g.101083719G>TCA388651722NALCNc.3575C>A (p.Pro1192His)
c.3296C>A (p.Pro1099His)
c.3662C>A (p.Pro1221His)
c.3488C>A (p.Pro1163His)
c.3632C>A (p.Pro1211His)
c.3545C>A (p.Pro1182His)
c.3353C>A (p.Pro1118His)
c.3128C>A (p.Pro1043His)
c.2810C>A (p.Pro937His)
c.3719C>A (p.Pro1240His)
13g.101083720G>ACA388651724NALCNc.3574C>T (p.Pro1192Ser)
c.3295C>T (p.Pro1099Ser)
c.3661C>T (p.Pro1221Ser)
c.3487C>T (p.Pro1163Ser)
c.3631C>T (p.Pro1211Ser)
c.3544C>T (p.Pro1182Ser)
c.3352C>T (p.Pro1118Ser)
c.3127C>T (p.Pro1043Ser)
c.2809C>T (p.Pro937Ser)
c.3718C>T (p.Pro1240Ser)
13g.101083720G>CCA388651726NALCNc.3574C>G (p.Pro1192Ala)
c.3295C>G (p.Pro1099Ala)
c.3661C>G (p.Pro1221Ala)
c.3487C>G (p.Pro1163Ala)
c.3631C>G (p.Pro1211Ala)
c.3544C>G (p.Pro1182Ala)
c.3352C>G (p.Pro1118Ala)
c.3127C>G (p.Pro1043Ala)
c.2809C>G (p.Pro937Ala)
c.3718C>G (p.Pro1240Ala)
13g.101083720G>TCA388651728NALCNc.3574C>A (p.Pro1192Thr)
c.3295C>A (p.Pro1099Thr)
c.3661C>A (p.Pro1221Thr)
c.3487C>A (p.Pro1163Thr)
c.3631C>A (p.Pro1211Thr)
c.3544C>A (p.Pro1182Thr)
c.3352C>A (p.Pro1118Thr)
c.3127C>A (p.Pro1043Thr)
c.2809C>A (p.Pro937Thr)
c.3718C>A (p.Pro1240Thr)
13g.101083721C>ACA484553386NALCNc.3573G>T (p.Pro1191=)
c.3294G>T (p.Pro1098=)
c.3660G>T (p.Pro1220=)
c.3486G>T (p.Pro1162=)
c.3630G>T (p.Pro1210=)
c.3543G>T (p.Pro1181=)
c.3351G>T (p.Pro1117=)
c.3126G>T (p.Pro1042=)
c.2808G>T (p.Pro936=)
c.3717G>T (p.Pro1239=)
13g.101083721C=CA2114389774NALCNc.3573G= (p.Pro1191=)
c.3294G= (p.Pro1098=)
c.3660G= (p.Pro1220=)
c.3486G= (p.Pro1162=)
c.3630G= (p.Pro1210=)
c.3543G= (p.Pro1181=)
c.3351G= (p.Pro1117=)
c.3126G= (p.Pro1042=)
c.2808G= (p.Pro936=)
c.3717G= (p.Pro1239=)
13g.101083721C>GCA484553387NALCNc.3573G>C (p.Pro1191=)
c.3294G>C (p.Pro1098=)
c.3660G>C (p.Pro1220=)
c.3486G>C (p.Pro1162=)
c.3630G>C (p.Pro1210=)
c.3543G>C (p.Pro1181=)
c.3351G>C (p.Pro1117=)
c.3126G>C (p.Pro1042=)
c.2808G>C (p.Pro936=)
c.3717G>C (p.Pro1239=)
 gnomAD v4
13g.101083721C>TCA7035369NALCNc.3573G>A (p.Pro1191=)
c.3294G>A (p.Pro1098=)
c.3660G>A (p.Pro1220=)
c.3486G>A (p.Pro1162=)
c.3630G>A (p.Pro1210=)
c.3543G>A (p.Pro1181=)
c.3351G>A (p.Pro1117=)
c.3126G>A (p.Pro1042=)
c.2808G>A (p.Pro936=)
c.3717G>A (p.Pro1239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.101083722G>ACA388651730NALCNc.3572C>T (p.Pro1191Leu)
c.3293C>T (p.Pro1098Leu)
c.3659C>T (p.Pro1220Leu)
c.3485C>T (p.Pro1162Leu)
c.3629C>T (p.Pro1210Leu)
c.3542C>T (p.Pro1181Leu)
c.3350C>T (p.Pro1117Leu)
c.3125C>T (p.Pro1042Leu)
c.2807C>T (p.Pro936Leu)
c.3716C>T (p.Pro1239Leu)
 gnomAD v4
13g.101083722G>CCA388651732NALCNc.3572C>G (p.Pro1191Arg)
c.3293C>G (p.Pro1098Arg)
c.3659C>G (p.Pro1220Arg)
c.3485C>G (p.Pro1162Arg)
c.3629C>G (p.Pro1210Arg)
c.3542C>G (p.Pro1181Arg)
c.3350C>G (p.Pro1117Arg)
c.3125C>G (p.Pro1042Arg)
c.2807C>G (p.Pro936Arg)
c.3716C>G (p.Pro1239Arg)
13g.101083722G>TCA388651734NALCNc.3572C>A (p.Pro1191Gln)
c.3293C>A (p.Pro1098Gln)
c.3659C>A (p.Pro1220Gln)
c.3485C>A (p.Pro1162Gln)
c.3629C>A (p.Pro1210Gln)
c.3542C>A (p.Pro1181Gln)
c.3350C>A (p.Pro1117Gln)
c.3125C>A (p.Pro1042Gln)
c.2807C>A (p.Pro936Gln)
c.3716C>A (p.Pro1239Gln)
 COSMIC
13g.101083723G>ACA388651735NALCNc.3571C>T (p.Pro1191Ser)
c.3292C>T (p.Pro1098Ser)
c.3658C>T (p.Pro1220Ser)
c.3484C>T (p.Pro1162Ser)
c.3628C>T (p.Pro1210Ser)
c.3541C>T (p.Pro1181Ser)
c.3349C>T (p.Pro1117Ser)
c.3124C>T (p.Pro1042Ser)
c.2806C>T (p.Pro936Ser)
c.3715C>T (p.Pro1239Ser)
 COSMIC
13g.101083723G>CCA388651737NALCNc.3571C>G (p.Pro1191Ala)
c.3292C>G (p.Pro1098Ala)
c.3658C>G (p.Pro1220Ala)
c.3484C>G (p.Pro1162Ala)
c.3628C>G (p.Pro1210Ala)
c.3541C>G (p.Pro1181Ala)
c.3349C>G (p.Pro1117Ala)
c.3124C>G (p.Pro1042Ala)
c.2806C>G (p.Pro936Ala)
c.3715C>G (p.Pro1239Ala)
13g.101083723G>TCA388651738NALCNc.3571C>A (p.Pro1191Thr)
c.3292C>A (p.Pro1098Thr)
c.3658C>A (p.Pro1220Thr)
c.3484C>A (p.Pro1162Thr)
c.3628C>A (p.Pro1210Thr)
c.3541C>A (p.Pro1181Thr)
c.3349C>A (p.Pro1117Thr)
c.3124C>A (p.Pro1042Thr)
c.2806C>A (p.Pro936Thr)
c.3715C>A (p.Pro1239Thr)
13g.101083724A=CA2018017824NALCNc.3570T= (p.Leu1190=)
c.3291T= (p.Leu1097=)
c.3657T= (p.Leu1219=)
c.3483T= (p.Leu1161=)
c.3627T= (p.Leu1209=)
c.3540T= (p.Leu1180=)
c.3348T= (p.Leu1116=)
c.3123T= (p.Leu1041=)
c.2805T= (p.Leu935=)
c.3714T= (p.Leu1238=)
13g.101083724A>CCA484553388NALCNc.3570T>G (p.Leu1190=)
c.3291T>G (p.Leu1097=)
c.3657T>G (p.Leu1219=)
c.3483T>G (p.Leu1161=)
c.3627T>G (p.Leu1209=)
c.3540T>G (p.Leu1180=)
c.3348T>G (p.Leu1116=)
c.3123T>G (p.Leu1041=)
c.2805T>G (p.Leu935=)
c.3714T>G (p.Leu1238=)
 dbSNP gnomAD v2 gnomAD v4
13g.101083724A>GCA7035370NALCNc.3570T>C (p.Leu1190=)
c.3291T>C (p.Leu1097=)
c.3657T>C (p.Leu1219=)
c.3483T>C (p.Leu1161=)
c.3627T>C (p.Leu1209=)
c.3540T>C (p.Leu1180=)
c.3348T>C (p.Leu1116=)
c.3123T>C (p.Leu1041=)
c.2805T>C (p.Leu935=)
c.3714T>C (p.Leu1238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101083724A>TCA7035371NALCNc.3570T>A (p.Leu1190=)
c.3291T>A (p.Leu1097=)
c.3657T>A (p.Leu1219=)
c.3483T>A (p.Leu1161=)
c.3627T>A (p.Leu1209=)
c.3540T>A (p.Leu1180=)
c.3348T>A (p.Leu1116=)
c.3123T>A (p.Leu1041=)
c.2805T>A (p.Leu935=)
c.3714T>A (p.Leu1238=)
 dbSNP ExAC gnomAD v2
13g.101083725A>CCA388651744NALCNc.3569T>G (p.Leu1190Arg)
c.3290T>G (p.Leu1097Arg)
c.3656T>G (p.Leu1219Arg)
c.3482T>G (p.Leu1161Arg)
c.3626T>G (p.Leu1209Arg)
c.3539T>G (p.Leu1180Arg)
c.3347T>G (p.Leu1116Arg)
c.3122T>G (p.Leu1041Arg)
c.2804T>G (p.Leu935Arg)
c.3713T>G (p.Leu1238Arg)
13g.101083725A>GCA388651741NALCNc.3569T>C (p.Leu1190Pro)
c.3290T>C (p.Leu1097Pro)
c.3656T>C (p.Leu1219Pro)
c.3482T>C (p.Leu1161Pro)
c.3626T>C (p.Leu1209Pro)
c.3539T>C (p.Leu1180Pro)
c.3347T>C (p.Leu1116Pro)
c.3122T>C (p.Leu1041Pro)
c.2804T>C (p.Leu935Pro)
c.3713T>C (p.Leu1238Pro)
13g.101083725A>TCA388651743NALCNc.3569T>A (p.Leu1190His)
c.3290T>A (p.Leu1097His)
c.3656T>A (p.Leu1219His)
c.3482T>A (p.Leu1161His)
c.3626T>A (p.Leu1209His)
c.3539T>A (p.Leu1180His)
c.3347T>A (p.Leu1116His)
c.3122T>A (p.Leu1041His)
c.2804T>A (p.Leu935His)
c.3713T>A (p.Leu1238His)
13g.101083726G>ACA388651745NALCNc.3568C>T (p.Leu1190Phe)
c.3289C>T (p.Leu1097Phe)
c.3655C>T (p.Leu1219Phe)
c.3481C>T (p.Leu1161Phe)
c.3625C>T (p.Leu1209Phe)
c.3538C>T (p.Leu1180Phe)
c.3346C>T (p.Leu1116Phe)
c.3121C>T (p.Leu1041Phe)
c.2803C>T (p.Leu935Phe)
c.3712C>T (p.Leu1238Phe)
13g.101083726G>CCA388651747NALCNc.3568C>G (p.Leu1190Val)
c.3289C>G (p.Leu1097Val)
c.3655C>G (p.Leu1219Val)
c.3481C>G (p.Leu1161Val)
c.3625C>G (p.Leu1209Val)
c.3538C>G (p.Leu1180Val)
c.3346C>G (p.Leu1116Val)
c.3121C>G (p.Leu1041Val)
c.2803C>G (p.Leu935Val)
c.3712C>G (p.Leu1238Val)
 gnomAD v4
13g.101083726G>TCA388651748NALCNc.3568C>A (p.Leu1190Ile)
c.3289C>A (p.Leu1097Ile)
c.3655C>A (p.Leu1219Ile)
c.3481C>A (p.Leu1161Ile)
c.3625C>A (p.Leu1209Ile)
c.3538C>A (p.Leu1180Ile)
c.3346C>A (p.Leu1116Ile)
c.3121C>A (p.Leu1041Ile)
c.2803C>A (p.Leu935Ile)
c.3712C>A (p.Leu1238Ile)
13g.101083727A>CCA388651750NALCNc.3567T>G (p.His1189Gln)
c.3288T>G (p.His1096Gln)
c.3654T>G (p.His1218Gln)
c.3480T>G (p.His1160Gln)
c.3624T>G (p.His1208Gln)
c.3537T>G (p.His1179Gln)
c.3345T>G (p.His1115Gln)
c.3120T>G (p.His1040Gln)
c.2802T>G (p.His934Gln)
c.3711T>G (p.His1237Gln)
13g.101083727A>GCA484553389NALCNc.3567T>C (p.His1189=)
c.3288T>C (p.His1096=)
c.3654T>C (p.His1218=)
c.3480T>C (p.His1160=)
c.3624T>C (p.His1208=)
c.3537T>C (p.His1179=)
c.3345T>C (p.His1115=)
c.3120T>C (p.His1040=)
c.2802T>C (p.His934=)
c.3711T>C (p.His1237=)
13g.101083727A>TCA388651752NALCNc.3567T>A (p.His1189Gln)
c.3288T>A (p.His1096Gln)
c.3654T>A (p.His1218Gln)
c.3480T>A (p.His1160Gln)
c.3624T>A (p.His1208Gln)
c.3537T>A (p.His1179Gln)
c.3345T>A (p.His1115Gln)
c.3120T>A (p.His1040Gln)
c.2802T>A (p.His934Gln)
c.3711T>A (p.His1237Gln)
13g.101083728T>ACA388651753NALCNc.3566A>T (p.His1189Leu)
c.3287A>T (p.His1096Leu)
c.3653A>T (p.His1218Leu)
c.3479A>T (p.His1160Leu)
c.3623A>T (p.His1208Leu)
c.3536A>T (p.His1179Leu)
c.3344A>T (p.His1115Leu)
c.3119A>T (p.His1040Leu)
c.2801A>T (p.His934Leu)
c.3710A>T (p.His1237Leu)
13g.101083728T>CCA388651755NALCNc.3566A>G (p.His1189Arg)
c.3287A>G (p.His1096Arg)
c.3653A>G (p.His1218Arg)
c.3479A>G (p.His1160Arg)
c.3623A>G (p.His1208Arg)
c.3536A>G (p.His1179Arg)
c.3344A>G (p.His1115Arg)
c.3119A>G (p.His1040Arg)
c.2801A>G (p.His934Arg)
c.3710A>G (p.His1237Arg)
13g.101083728T>GCA388651756NALCNc.3566A>C (p.His1189Pro)
c.3287A>C (p.His1096Pro)
c.3653A>C (p.His1218Pro)
c.3479A>C (p.His1160Pro)
c.3623A>C (p.His1208Pro)
c.3536A>C (p.His1179Pro)
c.3344A>C (p.His1115Pro)
c.3119A>C (p.His1040Pro)
c.2801A>C (p.His934Pro)
c.3710A>C (p.His1237Pro)
13g.101083729G>ACA388651758NALCNc.3565C>T (p.His1189Tyr)
c.3286C>T (p.His1096Tyr)
c.3652C>T (p.His1218Tyr)
c.3478C>T (p.His1160Tyr)
c.3622C>T (p.His1208Tyr)
c.3535C>T (p.His1179Tyr)
c.3343C>T (p.His1115Tyr)
c.3118C>T (p.His1040Tyr)
c.2800C>T (p.His934Tyr)
c.3709C>T (p.His1237Tyr)
13g.101083729G>CCA388651760NALCNc.3565C>G (p.His1189Asp)
c.3286C>G (p.His1096Asp)
c.3652C>G (p.His1218Asp)
c.3478C>G (p.His1160Asp)
c.3622C>G (p.His1208Asp)
c.3535C>G (p.His1179Asp)
c.3343C>G (p.His1115Asp)
c.3118C>G (p.His1040Asp)
c.2800C>G (p.His934Asp)
c.3709C>G (p.His1237Asp)
13g.101083729G>TCA388651761NALCNc.3565C>A (p.His1189Asn)
c.3286C>A (p.His1096Asn)
c.3652C>A (p.His1218Asn)
c.3478C>A (p.His1160Asn)
c.3622C>A (p.His1208Asn)
c.3535C>A (p.His1179Asn)
c.3343C>A (p.His1115Asn)
c.3118C>A (p.His1040Asn)
c.2800C>A (p.His934Asn)
c.3709C>A (p.His1237Asn)
13g.101083730A>CCA484553390NALCNc.3564T>G (p.Leu1188=)
c.3285T>G (p.Leu1095=)
c.3651T>G (p.Leu1217=)
c.3477T>G (p.Leu1159=)
c.3621T>G (p.Leu1207=)
c.3534T>G (p.Leu1178=)
c.3342T>G (p.Leu1114=)
c.3117T>G (p.Leu1039=)
c.2799T>G (p.Leu933=)
c.3708T>G (p.Leu1236=)
13g.101083730A>GCA484553391NALCNc.3564T>C (p.Leu1188=)
c.3285T>C (p.Leu1095=)
c.3651T>C (p.Leu1217=)
c.3477T>C (p.Leu1159=)
c.3621T>C (p.Leu1207=)
c.3534T>C (p.Leu1178=)
c.3342T>C (p.Leu1114=)
c.3117T>C (p.Leu1039=)
c.2799T>C (p.Leu933=)
c.3708T>C (p.Leu1236=)
13g.101083730A>TCA484553392NALCNc.3564T>A (p.Leu1188=)
c.3285T>A (p.Leu1095=)
c.3651T>A (p.Leu1217=)
c.3477T>A (p.Leu1159=)
c.3621T>A (p.Leu1207=)
c.3534T>A (p.Leu1178=)
c.3342T>A (p.Leu1114=)
c.3117T>A (p.Leu1039=)
c.2799T>A (p.Leu933=)
c.3708T>A (p.Leu1236=)
13g.101083731A>CCA388651766NALCNc.3563T>G (p.Leu1188Arg)
c.3284T>G (p.Leu1095Arg)
c.3650T>G (p.Leu1217Arg)
c.3476T>G (p.Leu1159Arg)
c.3620T>G (p.Leu1207Arg)
c.3533T>G (p.Leu1178Arg)
c.3341T>G (p.Leu1114Arg)
c.3116T>G (p.Leu1039Arg)
c.2798T>G (p.Leu933Arg)
c.3707T>G (p.Leu1236Arg)
13g.101083731A>GCA388651765NALCNc.3563T>C (p.Leu1188Pro)
c.3284T>C (p.Leu1095Pro)
c.3650T>C (p.Leu1217Pro)
c.3476T>C (p.Leu1159Pro)
c.3620T>C (p.Leu1207Pro)
c.3533T>C (p.Leu1178Pro)
c.3341T>C (p.Leu1114Pro)
c.3116T>C (p.Leu1039Pro)
c.2798T>C (p.Leu933Pro)
c.3707T>C (p.Leu1236Pro)
 ClinVar
13g.101083731A>TCA388651763NALCNc.3563T>A (p.Leu1188His)
c.3284T>A (p.Leu1095His)
c.3650T>A (p.Leu1217His)
c.3476T>A (p.Leu1159His)
c.3620T>A (p.Leu1207His)
c.3533T>A (p.Leu1178His)
c.3341T>A (p.Leu1114His)
c.3116T>A (p.Leu1039His)
c.2798T>A (p.Leu933His)
c.3707T>A (p.Leu1236His)
13g.101083732G>ACA388651767NALCNc.3562C>T (p.Leu1188Phe)
c.3283C>T (p.Leu1095Phe)
c.3649C>T (p.Leu1217Phe)
c.3475C>T (p.Leu1159Phe)
c.3619C>T (p.Leu1207Phe)
c.3532C>T (p.Leu1178Phe)
c.3340C>T (p.Leu1114Phe)
c.3115C>T (p.Leu1039Phe)
c.2797C>T (p.Leu933Phe)
c.3706C>T (p.Leu1236Phe)
13g.101083732G>CCA388651769NALCNc.3562C>G (p.Leu1188Val)
c.3283C>G (p.Leu1095Val)
c.3649C>G (p.Leu1217Val)
c.3475C>G (p.Leu1159Val)
c.3619C>G (p.Leu1207Val)
c.3532C>G (p.Leu1178Val)
c.3340C>G (p.Leu1114Val)
c.3115C>G (p.Leu1039Val)
c.2797C>G (p.Leu933Val)
c.3706C>G (p.Leu1236Val)
13g.101083732G>TCA388651768NALCNc.3562C>A (p.Leu1188Ile)
c.3283C>A (p.Leu1095Ile)
c.3649C>A (p.Leu1217Ile)
c.3475C>A (p.Leu1159Ile)
c.3619C>A (p.Leu1207Ile)
c.3532C>A (p.Leu1178Ile)
c.3340C>A (p.Leu1114Ile)
c.3115C>A (p.Leu1039Ile)
c.2797C>A (p.Leu933Ile)
c.3706C>A (p.Leu1236Ile)
13g.101083733A>CCA484553393NALCNc.3561T>G (p.Pro1187=)
c.3282T>G (p.Pro1094=)
c.3648T>G (p.Pro1216=)
c.3474T>G (p.Pro1158=)
c.3618T>G (p.Pro1206=)
c.3531T>G (p.Pro1177=)
c.3339T>G (p.Pro1113=)
c.3114T>G (p.Pro1038=)
c.2796T>G (p.Pro932=)
c.3705T>G (p.Pro1235=)
13g.101083733A>GCA484553394NALCNc.3561T>C (p.Pro1187=)
c.3282T>C (p.Pro1094=)
c.3648T>C (p.Pro1216=)
c.3474T>C (p.Pro1158=)
c.3618T>C (p.Pro1206=)
c.3531T>C (p.Pro1177=)
c.3339T>C (p.Pro1113=)
c.3114T>C (p.Pro1038=)
c.2796T>C (p.Pro932=)
c.3705T>C (p.Pro1235=)
13g.101083733A>TCA484553395NALCNc.3561T>A (p.Pro1187=)
c.3282T>A (p.Pro1094=)
c.3648T>A (p.Pro1216=)
c.3474T>A (p.Pro1158=)
c.3618T>A (p.Pro1206=)
c.3531T>A (p.Pro1177=)
c.3339T>A (p.Pro1113=)
c.3114T>A (p.Pro1038=)
c.2796T>A (p.Pro932=)
c.3705T>A (p.Pro1235=)
13g.101083734G>ACA388651772NALCNc.3560C>T (p.Pro1187Leu)
c.3281C>T (p.Pro1094Leu)
c.3647C>T (p.Pro1216Leu)
c.3473C>T (p.Pro1158Leu)
c.3617C>T (p.Pro1206Leu)
c.3530C>T (p.Pro1177Leu)
c.3338C>T (p.Pro1113Leu)
c.3113C>T (p.Pro1038Leu)
c.2795C>T (p.Pro932Leu)
c.3704C>T (p.Pro1235Leu)
13g.101083734G>CCA388651775NALCNc.3560C>G (p.Pro1187Arg)
c.3281C>G (p.Pro1094Arg)
c.3647C>G (p.Pro1216Arg)
c.3473C>G (p.Pro1158Arg)
c.3617C>G (p.Pro1206Arg)
c.3530C>G (p.Pro1177Arg)
c.3338C>G (p.Pro1113Arg)
c.3113C>G (p.Pro1038Arg)
c.2795C>G (p.Pro932Arg)
c.3704C>G (p.Pro1235Arg)
13g.101083734G>TCA388651774NALCNc.3560C>A (p.Pro1187His)
c.3281C>A (p.Pro1094His)
c.3647C>A (p.Pro1216His)
c.3473C>A (p.Pro1158His)
c.3617C>A (p.Pro1206His)
c.3530C>A (p.Pro1177His)
c.3338C>A (p.Pro1113His)
c.3113C>A (p.Pro1038His)
c.2795C>A (p.Pro932His)
c.3704C>A (p.Pro1235His)
13g.101083735G>ACA388651776NALCNc.3559C>T (p.Pro1187Ser)
c.3280C>T (p.Pro1094Ser)
c.3646C>T (p.Pro1216Ser)
c.3472C>T (p.Pro1158Ser)
c.3616C>T (p.Pro1206Ser)
c.3529C>T (p.Pro1177Ser)
c.3337C>T (p.Pro1113Ser)
c.3112C>T (p.Pro1038Ser)
c.2794C>T (p.Pro932Ser)
c.3703C>T (p.Pro1235Ser)
 gnomAD v4
13g.101083735G>CCA388651778NALCNc.3559C>G (p.Pro1187Ala)
c.3280C>G (p.Pro1094Ala)
c.3646C>G (p.Pro1216Ala)
c.3472C>G (p.Pro1158Ala)
c.3616C>G (p.Pro1206Ala)
c.3529C>G (p.Pro1177Ala)
c.3337C>G (p.Pro1113Ala)
c.3112C>G (p.Pro1038Ala)
c.2794C>G (p.Pro932Ala)
c.3703C>G (p.Pro1235Ala)
13g.101083735G>TCA388651779NALCNc.3559C>A (p.Pro1187Thr)
c.3280C>A (p.Pro1094Thr)
c.3646C>A (p.Pro1216Thr)
c.3472C>A (p.Pro1158Thr)
c.3616C>A (p.Pro1206Thr)
c.3529C>A (p.Pro1177Thr)
c.3337C>A (p.Pro1113Thr)
c.3112C>A (p.Pro1038Thr)
c.2794C>A (p.Pro932Thr)
c.3703C>A (p.Pro1235Thr)
13g.101083736C>ACA388651781NALCNc.3558G>T (p.Gln1186His)
c.3279G>T (p.Gln1093His)
c.3645G>T (p.Gln1215His)
c.3471G>T (p.Gln1157His)
c.3615G>T (p.Gln1205His)
c.3528G>T (p.Gln1176His)
c.3336G>T (p.Gln1112His)
c.3111G>T (p.Gln1037His)
c.2793G>T (p.Gln931His)
c.3702G>T (p.Gln1234His)
13g.101083736C=CA2114389775NALCNc.3558G= (p.Gln1186=)
c.3279G= (p.Gln1093=)
c.3645G= (p.Gln1215=)
c.3471G= (p.Gln1157=)
c.3615G= (p.Gln1205=)
c.3528G= (p.Gln1176=)
c.3336G= (p.Gln1112=)
c.3111G= (p.Gln1037=)
c.2793G= (p.Gln931=)
c.3702G= (p.Gln1234=)
13g.101083736C>GCA388651782NALCNc.3558G>C (p.Gln1186His)
c.3279G>C (p.Gln1093His)
c.3645G>C (p.Gln1215His)
c.3471G>C (p.Gln1157His)
c.3615G>C (p.Gln1205His)
c.3528G>C (p.Gln1176His)
c.3336G>C (p.Gln1112His)
c.3111G>C (p.Gln1037His)
c.2793G>C (p.Gln931His)
c.3702G>C (p.Gln1234His)
13g.101083736C>TCA255408538NALCNc.3558G>A (p.Gln1186=)
c.3279G>A (p.Gln1093=)
c.3645G>A (p.Gln1215=)
c.3471G>A (p.Gln1157=)
c.3615G>A (p.Gln1205=)
c.3528G>A (p.Gln1176=)
c.3336G>A (p.Gln1112=)
c.3111G>A (p.Gln1037=)
c.2793G>A (p.Gln931=)
c.3702G>A (p.Gln1234=)
 dbSNP
13g.101083737T>ACA388651785NALCNc.3557A>T (p.Gln1186Leu)
c.3278A>T (p.Gln1093Leu)
c.3644A>T (p.Gln1215Leu)
c.3470A>T (p.Gln1157Leu)
c.3614A>T (p.Gln1205Leu)
c.3527A>T (p.Gln1176Leu)
c.3335A>T (p.Gln1112Leu)
c.3110A>T (p.Gln1037Leu)
c.2792A>T (p.Gln931Leu)
c.3701A>T (p.Gln1234Leu)
13g.101083737T>CCA388651786NALCNc.3557A>G (p.Gln1186Arg)
c.3278A>G (p.Gln1093Arg)
c.3644A>G (p.Gln1215Arg)
c.3470A>G (p.Gln1157Arg)
c.3614A>G (p.Gln1205Arg)
c.3527A>G (p.Gln1176Arg)
c.3335A>G (p.Gln1112Arg)
c.3110A>G (p.Gln1037Arg)
c.2792A>G (p.Gln931Arg)
c.3701A>G (p.Gln1234Arg)
13g.101083737T>GCA388651788NALCNc.3557A>C (p.Gln1186Pro)
c.3278A>C (p.Gln1093Pro)
c.3644A>C (p.Gln1215Pro)
c.3470A>C (p.Gln1157Pro)
c.3614A>C (p.Gln1205Pro)
c.3527A>C (p.Gln1176Pro)
c.3335A>C (p.Gln1112Pro)
c.3110A>C (p.Gln1037Pro)
c.2792A>C (p.Gln931Pro)
c.3701A>C (p.Gln1234Pro)
13g.101083738G>ACA388651789NALCNc.3556C>T (p.Gln1186Ter)
c.3277C>T (p.Gln1093Ter)
c.3643C>T (p.Gln1215Ter)
c.3469C>T (p.Gln1157Ter)
c.3613C>T (p.Gln1205Ter)
c.3526C>T (p.Gln1176Ter)
c.3334C>T (p.Gln1112Ter)
c.3109C>T (p.Gln1037Ter)
c.2791C>T (p.Gln931Ter)
c.3700C>T (p.Gln1234Ter)
 ClinVar dbSNP
13g.101083738G>CCA388651791NALCNc.3556C>G (p.Gln1186Glu)
c.3277C>G (p.Gln1093Glu)
c.3643C>G (p.Gln1215Glu)
c.3469C>G (p.Gln1157Glu)
c.3613C>G (p.Gln1205Glu)
c.3526C>G (p.Gln1176Glu)
c.3334C>G (p.Gln1112Glu)
c.3109C>G (p.Gln1037Glu)
c.2791C>G (p.Gln931Glu)
c.3700C>G (p.Gln1234Glu)
 COSMIC
13g.101083738G=CA2114389776NALCNc.3556C= (p.Gln1186=)
c.3277C= (p.Gln1093=)
c.3643C= (p.Gln1215=)
c.3469C= (p.Gln1157=)
c.3613C= (p.Gln1205=)
c.3526C= (p.Gln1176=)
c.3334C= (p.Gln1112=)
c.3109C= (p.Gln1037=)
c.2791C= (p.Gln931=)
c.3700C= (p.Gln1234=)
13g.101083738G>TCA388651793NALCNc.3556C>A (p.Gln1186Lys)
c.3277C>A (p.Gln1093Lys)
c.3643C>A (p.Gln1215Lys)
c.3469C>A (p.Gln1157Lys)
c.3613C>A (p.Gln1205Lys)
c.3526C>A (p.Gln1176Lys)
c.3334C>A (p.Gln1112Lys)
c.3109C>A (p.Gln1037Lys)
c.2791C>A (p.Gln931Lys)
c.3700C>A (p.Gln1234Lys)
13g.101083739T>ACA484553396NALCNc.3555A>T (p.Ala1185=)
c.3276A>T (p.Ala1092=)
c.3642A>T (p.Ala1214=)
c.3468A>T (p.Ala1156=)
c.3612A>T (p.Ala1204=)
c.3525A>T (p.Ala1175=)
c.3333A>T (p.Ala1111=)
c.3108A>T (p.Ala1036=)
c.2790A>T (p.Ala930=)
c.3699A>T (p.Ala1233=)
13g.101083739T>CCA484553398NALCNc.3555A>G (p.Ala1185=)
c.3276A>G (p.Ala1092=)
c.3642A>G (p.Ala1214=)
c.3468A>G (p.Ala1156=)
c.3612A>G (p.Ala1204=)
c.3525A>G (p.Ala1175=)
c.3333A>G (p.Ala1111=)
c.3108A>G (p.Ala1036=)
c.2790A>G (p.Ala930=)
c.3699A>G (p.Ala1233=)
13g.101083739T>GCA484553397NALCNc.3555A>C (p.Ala1185=)
c.3276A>C (p.Ala1092=)
c.3642A>C (p.Ala1214=)
c.3468A>C (p.Ala1156=)
c.3612A>C (p.Ala1204=)
c.3525A>C (p.Ala1175=)
c.3333A>C (p.Ala1111=)
c.3108A>C (p.Ala1036=)
c.2790A>C (p.Ala930=)
c.3699A>C (p.Ala1233=)
 dbSNP
13g.101083739T=CA2114389777NALCNc.3555A= (p.Ala1185=)
c.3276A= (p.Ala1092=)
c.3642A= (p.Ala1214=)
c.3468A= (p.Ala1156=)
c.3612A= (p.Ala1204=)
c.3525A= (p.Ala1175=)
c.3333A= (p.Ala1111=)
c.3108A= (p.Ala1036=)
c.2790A= (p.Ala930=)
c.3699A= (p.Ala1233=)
13g.101083740G>ACA388651797NALCNc.3554C>T (p.Ala1185Val)
c.3275C>T (p.Ala1092Val)
c.3641C>T (p.Ala1214Val)
c.3467C>T (p.Ala1156Val)
c.3611C>T (p.Ala1204Val)
c.3524C>T (p.Ala1175Val)
c.3332C>T (p.Ala1111Val)
c.3107C>T (p.Ala1036Val)
c.2789C>T (p.Ala930Val)
c.3698C>T (p.Ala1233Val)
13g.101083740G>CCA388651794NALCNc.3554C>G (p.Ala1185Gly)
c.3275C>G (p.Ala1092Gly)
c.3641C>G (p.Ala1214Gly)
c.3467C>G (p.Ala1156Gly)
c.3611C>G (p.Ala1204Gly)
c.3524C>G (p.Ala1175Gly)
c.3332C>G (p.Ala1111Gly)
c.3107C>G (p.Ala1036Gly)
c.2789C>G (p.Ala930Gly)
c.3698C>G (p.Ala1233Gly)
13g.101083740G>TCA388651796NALCNc.3554C>A (p.Ala1185Glu)
c.3275C>A (p.Ala1092Glu)
c.3641C>A (p.Ala1214Glu)
c.3467C>A (p.Ala1156Glu)
c.3611C>A (p.Ala1204Glu)
c.3524C>A (p.Ala1175Glu)
c.3332C>A (p.Ala1111Glu)
c.3107C>A (p.Ala1036Glu)
c.2789C>A (p.Ala930Glu)
c.3698C>A (p.Ala1233Glu)
13g.101083741C>ACA388651798NALCNc.3553G>T (p.Ala1185Ser)
c.3274G>T (p.Ala1092Ser)
c.3640G>T (p.Ala1214Ser)
c.3466G>T (p.Ala1156Ser)
c.3610G>T (p.Ala1204Ser)
c.3523G>T (p.Ala1175Ser)
c.3331G>T (p.Ala1111Ser)
c.3106G>T (p.Ala1036Ser)
c.2788G>T (p.Ala930Ser)
c.3697G>T (p.Ala1233Ser)
13g.101083741C>GCA388651799NALCNc.3553G>C (p.Ala1185Pro)
c.3274G>C (p.Ala1092Pro)
c.3640G>C (p.Ala1214Pro)
c.3466G>C (p.Ala1156Pro)
c.3610G>C (p.Ala1204Pro)
c.3523G>C (p.Ala1175Pro)
c.3331G>C (p.Ala1111Pro)
c.3106G>C (p.Ala1036Pro)
c.2788G>C (p.Ala930Pro)
c.3697G>C (p.Ala1233Pro)
13g.101083741C>TCA388651800NALCNc.3553G>A (p.Ala1185Thr)
c.3274G>A (p.Ala1092Thr)
c.3640G>A (p.Ala1214Thr)
c.3466G>A (p.Ala1156Thr)
c.3610G>A (p.Ala1204Thr)
c.3523G>A (p.Ala1175Thr)
c.3331G>A (p.Ala1111Thr)
c.3106G>A (p.Ala1036Thr)
c.2788G>A (p.Ala930Thr)
c.3697G>A (p.Ala1233Thr)
 ClinVar dbSNP gnomAD v4
13g.101083742G>ACA7035372NALCNc.3552C>T (p.Ile1184=)
c.3273C>T (p.Ile1091=)
c.3639C>T (p.Ile1213=)
c.3465C>T (p.Ile1155=)
c.3609C>T (p.Ile1203=)
c.3522C>T (p.Ile1174=)
c.3330C>T (p.Ile1110=)
c.3105C>T (p.Ile1035=)
c.2787C>T (p.Ile929=)
c.3696C>T (p.Ile1232=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101083742G>CCA388651802NALCNc.3552C>G (p.Ile1184Met)
c.3273C>G (p.Ile1091Met)
c.3639C>G (p.Ile1213Met)
c.3465C>G (p.Ile1155Met)
c.3609C>G (p.Ile1203Met)
c.3522C>G (p.Ile1174Met)
c.3330C>G (p.Ile1110Met)
c.3105C>G (p.Ile1035Met)
c.2787C>G (p.Ile929Met)
c.3696C>G (p.Ile1232Met)
13g.101083742G=CA2114389778NALCNc.3552C= (p.Ile1184=)
c.3273C= (p.Ile1091=)
c.3639C= (p.Ile1213=)
c.3465C= (p.Ile1155=)
c.3609C= (p.Ile1203=)
c.3522C= (p.Ile1174=)
c.3330C= (p.Ile1110=)
c.3105C= (p.Ile1035=)
c.2787C= (p.Ile929=)
c.3696C= (p.Ile1232=)
13g.101083742G>TCA484553400NALCNc.3552C>A (p.Ile1184=)
c.3273C>A (p.Ile1091=)
c.3639C>A (p.Ile1213=)
c.3465C>A (p.Ile1155=)
c.3609C>A (p.Ile1203=)
c.3522C>A (p.Ile1174=)
c.3330C>A (p.Ile1110=)
c.3105C>A (p.Ile1035=)
c.2787C>A (p.Ile929=)
c.3696C>A (p.Ile1232=)
13g.101083743A>CCA388651803NALCNc.3551T>G (p.Ile1184Ser)
c.3272T>G (p.Ile1091Ser)
c.3638T>G (p.Ile1213Ser)
c.3464T>G (p.Ile1155Ser)
c.3608T>G (p.Ile1203Ser)
c.3521T>G (p.Ile1174Ser)
c.3329T>G (p.Ile1110Ser)
c.3104T>G (p.Ile1035Ser)
c.2786T>G (p.Ile929Ser)
c.3695T>G (p.Ile1232Ser)
 ClinVar
13g.101083743A>GCA388651804NALCNc.3551T>C (p.Ile1184Thr)
c.3272T>C (p.Ile1091Thr)
c.3638T>C (p.Ile1213Thr)
c.3464T>C (p.Ile1155Thr)
c.3608T>C (p.Ile1203Thr)
c.3521T>C (p.Ile1174Thr)
c.3329T>C (p.Ile1110Thr)
c.3104T>C (p.Ile1035Thr)
c.2786T>C (p.Ile929Thr)
c.3695T>C (p.Ile1232Thr)
13g.101083743A>TCA388651805NALCNc.3551T>A (p.Ile1184Asn)
c.3272T>A (p.Ile1091Asn)
c.3638T>A (p.Ile1213Asn)
c.3464T>A (p.Ile1155Asn)
c.3608T>A (p.Ile1203Asn)
c.3521T>A (p.Ile1174Asn)
c.3329T>A (p.Ile1110Asn)
c.3104T>A (p.Ile1035Asn)
c.2786T>A (p.Ile929Asn)
c.3695T>A (p.Ile1232Asn)
13g.101083744T>ACA388651807NALCNc.3550A>T (p.Ile1184Phe)
c.3271A>T (p.Ile1091Phe)
c.3637A>T (p.Ile1213Phe)
c.3463A>T (p.Ile1155Phe)
c.3607A>T (p.Ile1203Phe)
c.3520A>T (p.Ile1174Phe)
c.3328A>T (p.Ile1110Phe)
c.3103A>T (p.Ile1035Phe)
c.2785A>T (p.Ile929Phe)
c.3694A>T (p.Ile1232Phe)
13g.101083744T>CCA388651809NALCNc.3550A>G (p.Ile1184Val)
c.3271A>G (p.Ile1091Val)
c.3637A>G (p.Ile1213Val)
c.3463A>G (p.Ile1155Val)
c.3607A>G (p.Ile1203Val)
c.3520A>G (p.Ile1174Val)
c.3328A>G (p.Ile1110Val)
c.3103A>G (p.Ile1035Val)
c.2785A>G (p.Ile929Val)
c.3694A>G (p.Ile1232Val)
13g.101083744T>GCA388651811NALCNc.3550A>C (p.Ile1184Leu)
c.3271A>C (p.Ile1091Leu)
c.3637A>C (p.Ile1213Leu)
c.3463A>C (p.Ile1155Leu)
c.3607A>C (p.Ile1203Leu)
c.3520A>C (p.Ile1174Leu)
c.3328A>C (p.Ile1110Leu)
c.3103A>C (p.Ile1035Leu)
c.2785A>C (p.Ile929Leu)
c.3694A>C (p.Ile1232Leu)
13g.101083745C>ACA388651812NALCNc.3549G>T (p.Lys1183Asn)
c.3270G>T (p.Lys1090Asn)
c.3636G>T (p.Lys1212Asn)
c.3462G>T (p.Lys1154Asn)
c.3606G>T (p.Lys1202Asn)
c.3519G>T (p.Lys1173Asn)
c.3327G>T (p.Lys1109Asn)
c.3102G>T (p.Lys1034Asn)
c.2784G>T (p.Lys928Asn)
c.3693G>T (p.Lys1231Asn)
13g.101083745C>GCA388651813NALCNc.3549G>C (p.Lys1183Asn)
c.3270G>C (p.Lys1090Asn)
c.3636G>C (p.Lys1212Asn)
c.3462G>C (p.Lys1154Asn)
c.3606G>C (p.Lys1202Asn)
c.3519G>C (p.Lys1173Asn)
c.3327G>C (p.Lys1109Asn)
c.3102G>C (p.Lys1034Asn)
c.2784G>C (p.Lys928Asn)
c.3693G>C (p.Lys1231Asn)
13g.101083745C>TCA484553401NALCNc.3549G>A (p.Lys1183=)
c.3270G>A (p.Lys1090=)
c.3636G>A (p.Lys1212=)
c.3462G>A (p.Lys1154=)
c.3606G>A (p.Lys1202=)
c.3519G>A (p.Lys1173=)
c.3327G>A (p.Lys1109=)
c.3102G>A (p.Lys1034=)
c.2784G>A (p.Lys928=)
c.3693G>A (p.Lys1231=)
13g.101083746T>ACA388651815NALCNc.3548A>T (p.Lys1183Met)
c.3269A>T (p.Lys1090Met)
c.3635A>T (p.Lys1212Met)
c.3461A>T (p.Lys1154Met)
c.3605A>T (p.Lys1202Met)
c.3518A>T (p.Lys1173Met)
c.3326A>T (p.Lys1109Met)
c.3101A>T (p.Lys1034Met)
c.2783A>T (p.Lys928Met)
c.3692A>T (p.Lys1231Met)
13g.101083746T>CCA388651817NALCNc.3548A>G (p.Lys1183Arg)
c.3269A>G (p.Lys1090Arg)
c.3635A>G (p.Lys1212Arg)
c.3461A>G (p.Lys1154Arg)
c.3605A>G (p.Lys1202Arg)
c.3518A>G (p.Lys1173Arg)
c.3326A>G (p.Lys1109Arg)
c.3101A>G (p.Lys1034Arg)
c.2783A>G (p.Lys928Arg)
c.3692A>G (p.Lys1231Arg)
13g.101083746T>GCA388651819NALCNc.3548A>C (p.Lys1183Thr)
c.3269A>C (p.Lys1090Thr)
c.3635A>C (p.Lys1212Thr)
c.3461A>C (p.Lys1154Thr)
c.3605A>C (p.Lys1202Thr)
c.3518A>C (p.Lys1173Thr)
c.3326A>C (p.Lys1109Thr)
c.3101A>C (p.Lys1034Thr)
c.2783A>C (p.Lys928Thr)
c.3692A>C (p.Lys1231Thr)
13g.101083747T>ACA388651820NALCNc.3547A>T (p.Lys1183Ter)
c.3268A>T (p.Lys1090Ter)
c.3634A>T (p.Lys1212Ter)
c.3460A>T (p.Lys1154Ter)
c.3604A>T (p.Lys1202Ter)
c.3517A>T (p.Lys1173Ter)
c.3325A>T (p.Lys1109Ter)
c.3100A>T (p.Lys1034Ter)
c.2782A>T (p.Lys928Ter)
c.3691A>T (p.Lys1231Ter)
13g.101083747T>CCA388651821NALCNc.3547A>G (p.Lys1183Glu)
c.3268A>G (p.Lys1090Glu)
c.3634A>G (p.Lys1212Glu)
c.3460A>G (p.Lys1154Glu)
c.3604A>G (p.Lys1202Glu)
c.3517A>G (p.Lys1173Glu)
c.3325A>G (p.Lys1109Glu)
c.3100A>G (p.Lys1034Glu)
c.2782A>G (p.Lys928Glu)
c.3691A>G (p.Lys1231Glu)
13g.101083747T>GCA388651823NALCNc.3547A>C (p.Lys1183Gln)
c.3268A>C (p.Lys1090Gln)
c.3634A>C (p.Lys1212Gln)
c.3460A>C (p.Lys1154Gln)
c.3604A>C (p.Lys1202Gln)
c.3517A>C (p.Lys1173Gln)
c.3325A>C (p.Lys1109Gln)
c.3100A>C (p.Lys1034Gln)
c.2782A>C (p.Lys928Gln)
c.3691A>C (p.Lys1231Gln)
13g.101083748C>ACA484553402NALCNc.3546G>T (p.Leu1182=)
c.3267G>T (p.Leu1089=)
c.3633G>T (p.Leu1211=)
c.3459G>T (p.Leu1153=)
c.3603G>T (p.Leu1201=)
c.3516G>T (p.Leu1172=)
c.3324G>T (p.Leu1108=)
c.3099G>T (p.Leu1033=)
c.2781G>T (p.Leu927=)
c.3690G>T (p.Leu1230=)
13g.101083748C>GCA484553403NALCNc.3546G>C (p.Leu1182=)
c.3267G>C (p.Leu1089=)
c.3633G>C (p.Leu1211=)
c.3459G>C (p.Leu1153=)
c.3603G>C (p.Leu1201=)
c.3516G>C (p.Leu1172=)
c.3324G>C (p.Leu1108=)
c.3099G>C (p.Leu1033=)
c.2781G>C (p.Leu927=)
c.3690G>C (p.Leu1230=)
13g.101083748C>TCA484553404NALCNc.3546G>A (p.Leu1182=)
c.3267G>A (p.Leu1089=)
c.3633G>A (p.Leu1211=)
c.3459G>A (p.Leu1153=)
c.3603G>A (p.Leu1201=)
c.3516G>A (p.Leu1172=)
c.3324G>A (p.Leu1108=)
c.3099G>A (p.Leu1033=)
c.2781G>A (p.Leu927=)
c.3690G>A (p.Leu1230=)
 gnomAD v4
13g.101083749A>CCA388651824NALCNc.3545T>G (p.Leu1182Arg)
c.3266T>G (p.Leu1089Arg)
c.3632T>G (p.Leu1211Arg)
c.3458T>G (p.Leu1153Arg)
c.3602T>G (p.Leu1201Arg)
c.3515T>G (p.Leu1172Arg)
c.3323T>G (p.Leu1108Arg)
c.3098T>G (p.Leu1033Arg)
c.2780T>G (p.Leu927Arg)
c.3689T>G (p.Leu1230Arg)
13g.101083749A>GCA388651826NALCNc.3545T>C (p.Leu1182Pro)
c.3266T>C (p.Leu1089Pro)
c.3632T>C (p.Leu1211Pro)
c.3458T>C (p.Leu1153Pro)
c.3602T>C (p.Leu1201Pro)
c.3515T>C (p.Leu1172Pro)
c.3323T>C (p.Leu1108Pro)
c.3098T>C (p.Leu1033Pro)
c.2780T>C (p.Leu927Pro)
c.3689T>C (p.Leu1230Pro)
13g.101083749A>TCA388651828NALCNc.3545T>A (p.Leu1182Gln)
c.3266T>A (p.Leu1089Gln)
c.3632T>A (p.Leu1211Gln)
c.3458T>A (p.Leu1153Gln)
c.3602T>A (p.Leu1201Gln)
c.3515T>A (p.Leu1172Gln)
c.3323T>A (p.Leu1108Gln)
c.3098T>A (p.Leu1033Gln)
c.2780T>A (p.Leu927Gln)
c.3689T>A (p.Leu1230Gln)
13g.101083750G>ACA484553405NALCNc.3544C>T (p.Leu1182=)
c.3265C>T (p.Leu1089=)
c.3631C>T (p.Leu1211=)
c.3457C>T (p.Leu1153=)
c.3601C>T (p.Leu1201=)
c.3514C>T (p.Leu1172=)
c.3322C>T (p.Leu1108=)
c.3097C>T (p.Leu1033=)
c.2779C>T (p.Leu927=)
c.3688C>T (p.Leu1230=)
13g.101083750G>CCA388651829NALCNc.3544C>G (p.Leu1182Val)
c.3265C>G (p.Leu1089Val)
c.3631C>G (p.Leu1211Val)
c.3457C>G (p.Leu1153Val)
c.3601C>G (p.Leu1201Val)
c.3514C>G (p.Leu1172Val)
c.3322C>G (p.Leu1108Val)
c.3097C>G (p.Leu1033Val)
c.2779C>G (p.Leu927Val)
c.3688C>G (p.Leu1230Val)
13g.101083750G>TCA388651830NALCNc.3544C>A (p.Leu1182Met)
c.3265C>A (p.Leu1089Met)
c.3631C>A (p.Leu1211Met)
c.3457C>A (p.Leu1153Met)
c.3601C>A (p.Leu1201Met)
c.3514C>A (p.Leu1172Met)
c.3322C>A (p.Leu1108Met)
c.3097C>A (p.Leu1033Met)
c.2779C>A (p.Leu927Met)
c.3688C>A (p.Leu1230Met)
13g.101083751T>ACA484553406NALCNc.3543A>T (p.Arg1181=)
c.3264A>T (p.Arg1088=)
c.3630A>T (p.Arg1210=)
c.3456A>T (p.Arg1152=)
c.3600A>T (p.Arg1200=)
c.3513A>T (p.Arg1171=)
c.3321A>T (p.Arg1107=)
c.3096A>T (p.Arg1032=)
c.2778A>T (p.Arg926=)
c.3687A>T (p.Arg1229=)
13g.101083751T>CCA7035373NALCNc.3543A>G (p.Arg1181=)
c.3264A>G (p.Arg1088=)
c.3630A>G (p.Arg1210=)
c.3456A>G (p.Arg1152=)
c.3600A>G (p.Arg1200=)
c.3513A>G (p.Arg1171=)
c.3321A>G (p.Arg1107=)
c.3096A>G (p.Arg1032=)
c.2778A>G (p.Arg926=)
c.3687A>G (p.Arg1229=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101083751T>GCA484553407NALCNc.3543A>C (p.Arg1181=)
c.3264A>C (p.Arg1088=)
c.3630A>C (p.Arg1210=)
c.3456A>C (p.Arg1152=)
c.3600A>C (p.Arg1200=)
c.3513A>C (p.Arg1171=)
c.3321A>C (p.Arg1107=)
c.3096A>C (p.Arg1032=)
c.2778A>C (p.Arg926=)
c.3687A>C (p.Arg1229=)
13g.101083751T=CA2114389779NALCNc.3543A= (p.Arg1181=)
c.3264A= (p.Arg1088=)
c.3630A= (p.Arg1210=)
c.3456A= (p.Arg1152=)
c.3600A= (p.Arg1200=)
c.3513A= (p.Arg1171=)
c.3321A= (p.Arg1107=)
c.3096A= (p.Arg1032=)
c.2778A= (p.Arg926=)
c.3687A= (p.Arg1229=)
13g.101083752C>ACA388651835NALCNc.3542G>T (p.Arg1181Leu)
c.3263G>T (p.Arg1088Leu)
c.3629G>T (p.Arg1210Leu)
c.3455G>T (p.Arg1152Leu)
c.3599G>T (p.Arg1200Leu)
c.3512G>T (p.Arg1171Leu)
c.3320G>T (p.Arg1107Leu)
c.3095G>T (p.Arg1032Leu)
c.2777G>T (p.Arg926Leu)
c.3686G>T (p.Arg1229Leu)
 COSMIC
13g.101083752C=CA2114389780NALCNc.3542G= (p.Arg1181=)
c.3263G= (p.Arg1088=)
c.3629G= (p.Arg1210=)
c.3455G= (p.Arg1152=)
c.3599G= (p.Arg1200=)
c.3512G= (p.Arg1171=)
c.3320G= (p.Arg1107=)
c.3095G= (p.Arg1032=)
c.2777G= (p.Arg926=)
c.3686G= (p.Arg1229=)
13g.101083752C>GCA388651834NALCNc.3542G>C (p.Arg1181Pro)
c.3263G>C (p.Arg1088Pro)
c.3629G>C (p.Arg1210Pro)
c.3455G>C (p.Arg1152Pro)
c.3599G>C (p.Arg1200Pro)
c.3512G>C (p.Arg1171Pro)
c.3320G>C (p.Arg1107Pro)
c.3095G>C (p.Arg1032Pro)
c.2777G>C (p.Arg926Pro)
c.3686G>C (p.Arg1229Pro)
13g.101083752C>TCA212642NALCNc.3542G>A (p.Arg1181Gln)
c.3263G>A (p.Arg1088Gln)
c.3629G>A (p.Arg1210Gln)
c.3455G>A (p.Arg1152Gln)
c.3599G>A (p.Arg1200Gln)
c.3512G>A (p.Arg1171Gln)
c.3320G>A (p.Arg1107Gln)
c.3095G>A (p.Arg1032Gln)
c.2777G>A (p.Arg926Gln)
c.3686G>A (p.Arg1229Gln)
 ClinVar dbSNP gnomAD v4
13g.101083753G>ACA255408556NALCNc.3541C>T (p.Arg1181Ter)
c.3262C>T (p.Arg1088Ter)
c.3628C>T (p.Arg1210Ter)
c.3454C>T (p.Arg1152Ter)
c.3598C>T (p.Arg1200Ter)
c.3511C>T (p.Arg1171Ter)
c.3319C>T (p.Arg1107Ter)
c.3094C>T (p.Arg1032Ter)
c.2776C>T (p.Arg926Ter)
c.3685C>T (p.Arg1229Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
13g.101083753G>CCA388651836NALCNc.3541C>G (p.Arg1181Gly)
c.3262C>G (p.Arg1088Gly)
c.3628C>G (p.Arg1210Gly)
c.3454C>G (p.Arg1152Gly)
c.3598C>G (p.Arg1200Gly)
c.3511C>G (p.Arg1171Gly)
c.3319C>G (p.Arg1107Gly)
c.3094C>G (p.Arg1032Gly)
c.2776C>G (p.Arg926Gly)
c.3685C>G (p.Arg1229Gly)
13g.101083753G=CA2114389781NALCNc.3541C= (p.Arg1181=)
c.3262C= (p.Arg1088=)
c.3628C= (p.Arg1210=)
c.3454C= (p.Arg1152=)
c.3598C= (p.Arg1200=)
c.3511C= (p.Arg1171=)
c.3319C= (p.Arg1107=)
c.3094C= (p.Arg1032=)
c.2776C= (p.Arg926=)
c.3685C= (p.Arg1229=)
13g.101083753G>TCA484553409NALCNc.3541C>A (p.Arg1181=)
c.3262C>A (p.Arg1088=)
c.3628C>A (p.Arg1210=)
c.3454C>A (p.Arg1152=)
c.3598C>A (p.Arg1200=)
c.3511C>A (p.Arg1171=)
c.3319C>A (p.Arg1107=)
c.3094C>A (p.Arg1032=)
c.2776C>A (p.Arg926=)
c.3685C>A (p.Arg1229=)
 gnomAD v4
13g.101083754G>ACA484553410NALCNc.3540C>T (p.Ser1180=)
c.3261C>T (p.Ser1087=)
c.3627C>T (p.Ser1209=)
c.3453C>T (p.Ser1151=)
c.3597C>T (p.Ser1199=)
c.3510C>T (p.Ser1170=)
c.3318C>T (p.Ser1106=)
c.3093C>T (p.Ser1031=)
c.2775C>T (p.Ser925=)
c.3684C>T (p.Ser1228=)
13g.101083754G>CCA388651838NALCNc.3540C>G (p.Ser1180Arg)
c.3261C>G (p.Ser1087Arg)
c.3627C>G (p.Ser1209Arg)
c.3453C>G (p.Ser1151Arg)
c.3597C>G (p.Ser1199Arg)
c.3510C>G (p.Ser1170Arg)
c.3318C>G (p.Ser1106Arg)
c.3093C>G (p.Ser1031Arg)
c.2775C>G (p.Ser925Arg)
c.3684C>G (p.Ser1228Arg)
13g.101083754G>TCA388651839NALCNc.3540C>A (p.Ser1180Arg)
c.3261C>A (p.Ser1087Arg)
c.3627C>A (p.Ser1209Arg)
c.3453C>A (p.Ser1151Arg)
c.3597C>A (p.Ser1199Arg)
c.3510C>A (p.Ser1170Arg)
c.3318C>A (p.Ser1106Arg)
c.3093C>A (p.Ser1031Arg)
c.2775C>A (p.Ser925Arg)
c.3684C>A (p.Ser1228Arg)
13g.101083755C>ACA388651841NALCNc.3539G>T (p.Ser1180Ile)
c.3260G>T (p.Ser1087Ile)
c.3626G>T (p.Ser1209Ile)
c.3452G>T (p.Ser1151Ile)
c.3596G>T (p.Ser1199Ile)
c.3509G>T (p.Ser1170Ile)
c.3317G>T (p.Ser1106Ile)
c.3092G>T (p.Ser1031Ile)
c.2774G>T (p.Ser925Ile)
c.3683G>T (p.Ser1228Ile)
13g.101083755C>GCA388651842NALCNc.3539G>C (p.Ser1180Thr)
c.3260G>C (p.Ser1087Thr)
c.3626G>C (p.Ser1209Thr)
c.3452G>C (p.Ser1151Thr)
c.3596G>C (p.Ser1199Thr)
c.3509G>C (p.Ser1170Thr)
c.3317G>C (p.Ser1106Thr)
c.3092G>C (p.Ser1031Thr)
c.2774G>C (p.Ser925Thr)
c.3683G>C (p.Ser1228Thr)
13g.101083755C>TCA388651844NALCNc.3539G>A (p.Ser1180Asn)
c.3260G>A (p.Ser1087Asn)
c.3626G>A (p.Ser1209Asn)
c.3452G>A (p.Ser1151Asn)
c.3596G>A (p.Ser1199Asn)
c.3509G>A (p.Ser1170Asn)
c.3317G>A (p.Ser1106Asn)
c.3092G>A (p.Ser1031Asn)
c.2774G>A (p.Ser925Asn)
c.3683G>A (p.Ser1228Asn)
13g.101083756T>ACA388651846NALCNc.3538A>T (p.Ser1180Cys)
c.3259A>T (p.Ser1087Cys)
c.3625A>T (p.Ser1209Cys)
c.3451A>T (p.Ser1151Cys)
c.3595A>T (p.Ser1199Cys)
c.3508A>T (p.Ser1170Cys)
c.3316A>T (p.Ser1106Cys)
c.3091A>T (p.Ser1031Cys)
c.2773A>T (p.Ser925Cys)
c.3682A>T (p.Ser1228Cys)
13g.101083756T>CCA388651847NALCNc.3538A>G (p.Ser1180Gly)
c.3259A>G (p.Ser1087Gly)
c.3625A>G (p.Ser1209Gly)
c.3451A>G (p.Ser1151Gly)
c.3595A>G (p.Ser1199Gly)
c.3508A>G (p.Ser1170Gly)
c.3316A>G (p.Ser1106Gly)
c.3091A>G (p.Ser1031Gly)
c.2773A>G (p.Ser925Gly)
c.3682A>G (p.Ser1228Gly)
13g.101083756T>GCA388651848NALCNc.3538A>C (p.Ser1180Arg)
c.3259A>C (p.Ser1087Arg)
c.3625A>C (p.Ser1209Arg)
c.3451A>C (p.Ser1151Arg)
c.3595A>C (p.Ser1199Arg)
c.3508A>C (p.Ser1170Arg)
c.3316A>C (p.Ser1106Arg)
c.3091A>C (p.Ser1031Arg)
c.2773A>C (p.Ser925Arg)
c.3682A>C (p.Ser1228Arg)
13g.101083757C>ACA388651850NALCNc.3537G>T (p.Lys1179Asn)
c.3258G>T (p.Lys1086Asn)
c.3624G>T (p.Lys1208Asn)
c.3450G>T (p.Lys1150Asn)
c.3594G>T (p.Lys1198Asn)
c.3507G>T (p.Lys1169Asn)
c.3315G>T (p.Lys1105Asn)
c.3090G>T (p.Lys1030Asn)
c.2772G>T (p.Lys924Asn)
c.3681G>T (p.Lys1227Asn)
13g.101083757C>GCA388651852NALCNc.3537G>C (p.Lys1179Asn)
c.3258G>C (p.Lys1086Asn)
c.3624G>C (p.Lys1208Asn)
c.3450G>C (p.Lys1150Asn)
c.3594G>C (p.Lys1198Asn)
c.3507G>C (p.Lys1169Asn)
c.3315G>C (p.Lys1105Asn)
c.3090G>C (p.Lys1030Asn)
c.2772G>C (p.Lys924Asn)
c.3681G>C (p.Lys1227Asn)
13g.101083757C>TCA484553411NALCNc.3537G>A (p.Lys1179=)
c.3258G>A (p.Lys1086=)
c.3624G>A (p.Lys1208=)
c.3450G>A (p.Lys1150=)
c.3594G>A (p.Lys1198=)
c.3507G>A (p.Lys1169=)
c.3315G>A (p.Lys1105=)
c.3090G>A (p.Lys1030=)
c.2772G>A (p.Lys924=)
c.3681G>A (p.Lys1227=)
13g.101083758T>ACA388651857NALCNc.3536A>T (p.Lys1179Met)
c.3257A>T (p.Lys1086Met)
c.3623A>T (p.Lys1208Met)
c.3449A>T (p.Lys1150Met)
c.3593A>T (p.Lys1198Met)
c.3506A>T (p.Lys1169Met)
c.3314A>T (p.Lys1105Met)
c.3089A>T (p.Lys1030Met)
c.2771A>T (p.Lys924Met)
c.3680A>T (p.Lys1227Met)
13g.101083758T>CCA388651855NALCNc.3536A>G (p.Lys1179Arg)
c.3257A>G (p.Lys1086Arg)
c.3623A>G (p.Lys1208Arg)
c.3449A>G (p.Lys1150Arg)
c.3593A>G (p.Lys1198Arg)
c.3506A>G (p.Lys1169Arg)
c.3314A>G (p.Lys1105Arg)
c.3089A>G (p.Lys1030Arg)
c.2771A>G (p.Lys924Arg)
c.3680A>G (p.Lys1227Arg)
13g.101083758T>GCA388651854NALCNc.3536A>C (p.Lys1179Thr)
c.3257A>C (p.Lys1086Thr)
c.3623A>C (p.Lys1208Thr)
c.3449A>C (p.Lys1150Thr)
c.3593A>C (p.Lys1198Thr)
c.3506A>C (p.Lys1169Thr)
c.3314A>C (p.Lys1105Thr)
c.3089A>C (p.Lys1030Thr)
c.2771A>C (p.Lys924Thr)
c.3680A>C (p.Lys1227Thr)
13g.101083759T>ACA388651859NALCNc.3535A>T (p.Lys1179Ter)
c.3256A>T (p.Lys1086Ter)
c.3622A>T (p.Lys1208Ter)
c.3448A>T (p.Lys1150Ter)
c.3592A>T (p.Lys1198Ter)
c.3505A>T (p.Lys1169Ter)
c.3313A>T (p.Lys1105Ter)
c.3088A>T (p.Lys1030Ter)
c.2770A>T (p.Lys924Ter)
c.3679A>T (p.Lys1227Ter)
13g.101083759T>CCA388651860NALCNc.3535A>G (p.Lys1179Glu)
c.3256A>G (p.Lys1086Glu)
c.3622A>G (p.Lys1208Glu)
c.3448A>G (p.Lys1150Glu)
c.3592A>G (p.Lys1198Glu)
c.3505A>G (p.Lys1169Glu)
c.3313A>G (p.Lys1105Glu)
c.3088A>G (p.Lys1030Glu)
c.2770A>G (p.Lys924Glu)
c.3679A>G (p.Lys1227Glu)
13g.101083759T>GCA388651861NALCNc.3535A>C (p.Lys1179Gln)
c.3256A>C (p.Lys1086Gln)
c.3622A>C (p.Lys1208Gln)
c.3448A>C (p.Lys1150Gln)
c.3592A>C (p.Lys1198Gln)
c.3505A>C (p.Lys1169Gln)
c.3313A>C (p.Lys1105Gln)
c.3088A>C (p.Lys1030Gln)
c.2770A>C (p.Lys924Gln)
c.3679A>C (p.Lys1227Gln)
13g.101083760C>ACA484553414NALCNc.3534G>T (p.Leu1178=)
c.3255G>T (p.Leu1085=)
c.3621G>T (p.Leu1207=)
c.3447G>T (p.Leu1149=)
c.3591G>T (p.Leu1197=)
c.3504G>T (p.Leu1168=)
c.3312G>T (p.Leu1104=)
c.3087G>T (p.Leu1029=)
c.2769G>T (p.Leu923=)
c.3678G>T (p.Leu1226=)
13g.101083760C>GCA484553413NALCNc.3534G>C (p.Leu1178=)
c.3255G>C (p.Leu1085=)
c.3621G>C (p.Leu1207=)
c.3447G>C (p.Leu1149=)
c.3591G>C (p.Leu1197=)
c.3504G>C (p.Leu1168=)
c.3312G>C (p.Leu1104=)
c.3087G>C (p.Leu1029=)
c.2769G>C (p.Leu923=)
c.3678G>C (p.Leu1226=)
13g.101083760C>TCA484553412NALCNc.3534G>A (p.Leu1178=)
c.3255G>A (p.Leu1085=)
c.3621G>A (p.Leu1207=)
c.3447G>A (p.Leu1149=)
c.3591G>A (p.Leu1197=)
c.3504G>A (p.Leu1168=)
c.3312G>A (p.Leu1104=)
c.3087G>A (p.Leu1029=)
c.2769G>A (p.Leu923=)
c.3678G>A (p.Leu1226=)
13g.101083761A=CA2114389782NALCNc.3533T= (p.Leu1178=)
c.3254T= (p.Leu1085=)
c.3620T= (p.Leu1207=)
c.3446T= (p.Leu1149=)
c.3590T= (p.Leu1197=)
c.3503T= (p.Leu1168=)
c.3311T= (p.Leu1104=)
c.3086T= (p.Leu1029=)
c.2768T= (p.Leu923=)
c.3677T= (p.Leu1226=)
13g.101083761A>CCA388651863NALCNc.3533T>G (p.Leu1178Arg)
c.3254T>G (p.Leu1085Arg)
c.3620T>G (p.Leu1207Arg)
c.3446T>G (p.Leu1149Arg)
c.3590T>G (p.Leu1197Arg)
c.3503T>G (p.Leu1168Arg)
c.3311T>G (p.Leu1104Arg)
c.3086T>G (p.Leu1029Arg)
c.2768T>G (p.Leu923Arg)
c.3677T>G (p.Leu1226Arg)
13g.101083761A>GCA388651864NALCNc.3533T>C (p.Leu1178Pro)
c.3254T>C (p.Leu1085Pro)
c.3620T>C (p.Leu1207Pro)
c.3446T>C (p.Leu1149Pro)
c.3590T>C (p.Leu1197Pro)
c.3503T>C (p.Leu1168Pro)
c.3311T>C (p.Leu1104Pro)
c.3086T>C (p.Leu1029Pro)
c.2768T>C (p.Leu923Pro)
c.3677T>C (p.Leu1226Pro)
 ClinVar dbSNP
13g.101083761A>TCA388651866NALCNc.3533T>A (p.Leu1178Gln)
c.3254T>A (p.Leu1085Gln)
c.3620T>A (p.Leu1207Gln)
c.3446T>A (p.Leu1149Gln)
c.3590T>A (p.Leu1197Gln)
c.3503T>A (p.Leu1168Gln)
c.3311T>A (p.Leu1104Gln)
c.3086T>A (p.Leu1029Gln)
c.2768T>A (p.Leu923Gln)
c.3677T>A (p.Leu1226Gln)
13g.101083762G>ACA484553415NALCNc.3532C>T (p.Leu1178=)
c.3253C>T (p.Leu1085=)
c.3619C>T (p.Leu1207=)
c.3445C>T (p.Leu1149=)
c.3589C>T (p.Leu1197=)
c.3502C>T (p.Leu1168=)
c.3310C>T (p.Leu1104=)
c.3085C>T (p.Leu1029=)
c.2767C>T (p.Leu923=)
c.3676C>T (p.Leu1226=)
13g.101083762G>CCA388651867NALCNc.3532C>G (p.Leu1178Val)
c.3253C>G (p.Leu1085Val)
c.3619C>G (p.Leu1207Val)
c.3445C>G (p.Leu1149Val)
c.3589C>G (p.Leu1197Val)
c.3502C>G (p.Leu1168Val)
c.3310C>G (p.Leu1104Val)
c.3085C>G (p.Leu1029Val)
c.2767C>G (p.Leu923Val)
c.3676C>G (p.Leu1226Val)
13g.101083762G>TCA388651869NALCNc.3532C>A (p.Leu1178Met)
c.3253C>A (p.Leu1085Met)
c.3619C>A (p.Leu1207Met)
c.3445C>A (p.Leu1149Met)
c.3589C>A (p.Leu1197Met)
c.3502C>A (p.Leu1168Met)
c.3310C>A (p.Leu1104Met)
c.3085C>A (p.Leu1029Met)
c.2767C>A (p.Leu923Met)
c.3676C>A (p.Leu1226Met)
13g.101083763G>ACA484553416NALCNc.3531C>T (p.Asp1177=)
c.3252C>T (p.Asp1084=)
c.3618C>T (p.Asp1206=)
c.3444C>T (p.Asp1148=)
c.3588C>T (p.Asp1196=)
c.3501C>T (p.Asp1167=)
c.3309C>T (p.Asp1103=)
c.3084C>T (p.Asp1028=)
c.2766C>T (p.Asp922=)
c.3675C>T (p.Asp1225=)
13g.101083763G>CCA388651870NALCNc.3531C>G (p.Asp1177Glu)
c.3252C>G (p.Asp1084Glu)
c.3618C>G (p.Asp1206Glu)
c.3444C>G (p.Asp1148Glu)
c.3588C>G (p.Asp1196Glu)
c.3501C>G (p.Asp1167Glu)
c.3309C>G (p.Asp1103Glu)
c.3084C>G (p.Asp1028Glu)
c.2766C>G (p.Asp922Glu)
c.3675C>G (p.Asp1225Glu)
13g.101083763G>TCA388651871NALCNc.3531C>A (p.Asp1177Glu)
c.3252C>A (p.Asp1084Glu)
c.3618C>A (p.Asp1206Glu)
c.3444C>A (p.Asp1148Glu)
c.3588C>A (p.Asp1196Glu)
c.3501C>A (p.Asp1167Glu)
c.3309C>A (p.Asp1103Glu)
c.3084C>A (p.Asp1028Glu)
c.2766C>A (p.Asp922Glu)
c.3675C>A (p.Asp1225Glu)
13g.101083764T>ACA388651873NALCNc.3530A>T (p.Asp1177Val)
c.3251A>T (p.Asp1084Val)
c.3617A>T (p.Asp1206Val)
c.3443A>T (p.Asp1148Val)
c.3587A>T (p.Asp1196Val)
c.3500A>T (p.Asp1167Val)
c.3308A>T (p.Asp1103Val)
c.3083A>T (p.Asp1028Val)
c.2765A>T (p.Asp922Val)
c.3674A>T (p.Asp1225Val)
13g.101083764T>CCA388651875NALCNc.3530A>G (p.Asp1177Gly)
c.3251A>G (p.Asp1084Gly)
c.3617A>G (p.Asp1206Gly)
c.3443A>G (p.Asp1148Gly)
c.3587A>G (p.Asp1196Gly)
c.3500A>G (p.Asp1167Gly)
c.3308A>G (p.Asp1103Gly)
c.3083A>G (p.Asp1028Gly)
c.2765A>G (p.Asp922Gly)
c.3674A>G (p.Asp1225Gly)
13g.101083764T>GCA388651876NALCNc.3530A>C (p.Asp1177Ala)
c.3251A>C (p.Asp1084Ala)
c.3617A>C (p.Asp1206Ala)
c.3443A>C (p.Asp1148Ala)
c.3587A>C (p.Asp1196Ala)
c.3500A>C (p.Asp1167Ala)
c.3308A>C (p.Asp1103Ala)
c.3083A>C (p.Asp1028Ala)
c.2765A>C (p.Asp922Ala)
c.3674A>C (p.Asp1225Ala)
13g.101083765C>ACA388651881NALCNc.3529G>T (p.Asp1177Tyr)
c.3250G>T (p.Asp1084Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3442G>T (p.Asp1148Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3499G>T (p.Asp1167Tyr)
c.3307G>T (p.Asp1103Tyr)
c.3082G>T (p.Asp1028Tyr)
c.2764G>T (p.Asp922Tyr)
c.3673G>T (p.Asp1225Tyr)
13g.101083765C>GCA388651879NALCNc.3529G>C (p.Asp1177His)
c.3250G>C (p.Asp1084His)
c.3616G>C (p.Asp1206His)
c.3442G>C (p.Asp1148His)
c.3586G>C (p.Asp1196His)
c.3499G>C (p.Asp1167His)
c.3307G>C (p.Asp1103His)
c.3082G>C (p.Asp1028His)
c.2764G>C (p.Asp922His)
c.3673G>C (p.Asp1225His)
13g.101083765C>TCA388651878NALCNc.3529G>A (p.Asp1177Asn)
c.3250G>A (p.Asp1084Asn)
c.3616G>A (p.Asp1206Asn)
c.3442G>A (p.Asp1148Asn)
c.3586G>A (p.Asp1196Asn)
c.3499G>A (p.Asp1167Asn)
c.3307G>A (p.Asp1103Asn)
c.3082G>A (p.Asp1028Asn)
c.2764G>A (p.Asp922Asn)
c.3673G>A (p.Asp1225Asn)
13g.101083766T>ACA388651882NALCNc.3528A>T (p.Glu1176Asp)
c.3249A>T (p.Glu1083Asp)
c.3615A>T (p.Glu1205Asp)
c.3441A>T (p.Glu1147Asp)
c.3585A>T (p.Glu1195Asp)
c.3498A>T (p.Glu1166Asp)
c.3306A>T (p.Glu1102Asp)
c.3081A>T (p.Glu1027Asp)
c.2763A>T (p.Glu921Asp)
c.3672A>T (p.Glu1224Asp)
13g.101083766T>CCA484553418NALCNc.3528A>G (p.Glu1176=)
c.3249A>G (p.Glu1083=)
c.3615A>G (p.Glu1205=)
c.3441A>G (p.Glu1147=)
c.3585A>G (p.Glu1195=)
c.3498A>G (p.Glu1166=)
c.3306A>G (p.Glu1102=)
c.3081A>G (p.Glu1027=)
c.2763A>G (p.Glu921=)
c.3672A>G (p.Glu1224=)
 gnomAD v4
13g.101083766T>GCA388651883NALCNc.3528A>C (p.Glu1176Asp)
c.3249A>C (p.Glu1083Asp)
c.3615A>C (p.Glu1205Asp)
c.3441A>C (p.Glu1147Asp)
c.3585A>C (p.Glu1195Asp)
c.3498A>C (p.Glu1166Asp)
c.3306A>C (p.Glu1102Asp)
c.3081A>C (p.Glu1027Asp)
c.2763A>C (p.Glu921Asp)
c.3672A>C (p.Glu1224Asp)
13g.101083767T>ACA388651885NALCNc.3527A>T (p.Glu1176Val)
c.3248A>T (p.Glu1083Val)
c.3614A>T (p.Glu1205Val)
c.3440A>T (p.Glu1147Val)
c.3584A>T (p.Glu1195Val)
c.3497A>T (p.Glu1166Val)
c.3305A>T (p.Glu1102Val)
c.3080A>T (p.Glu1027Val)
c.2762A>T (p.Glu921Val)
c.3671A>T (p.Glu1224Val)
13g.101083767T>CCA388651886NALCNc.3527A>G (p.Glu1176Gly)
c.3248A>G (p.Glu1083Gly)
c.3614A>G (p.Glu1205Gly)
c.3440A>G (p.Glu1147Gly)
c.3584A>G (p.Glu1195Gly)
c.3497A>G (p.Glu1166Gly)
c.3305A>G (p.Glu1102Gly)
c.3080A>G (p.Glu1027Gly)
c.2762A>G (p.Glu921Gly)
c.3671A>G (p.Glu1224Gly)
13g.101083767T>GCA388651887NALCNc.3527A>C (p.Glu1176Ala)
c.3248A>C (p.Glu1083Ala)
c.3614A>C (p.Glu1205Ala)
c.3440A>C (p.Glu1147Ala)
c.3584A>C (p.Glu1195Ala)
c.3497A>C (p.Glu1166Ala)
c.3305A>C (p.Glu1102Ala)
c.3080A>C (p.Glu1027Ala)
c.2762A>C (p.Glu921Ala)
c.3671A>C (p.Glu1224Ala)
13g.101083768C>ACA388651889NALCNc.3526G>T (p.Glu1176Ter)
c.3247G>T (p.Glu1083Ter)
c.3613G>T (p.Glu1205Ter)
c.3439G>T (p.Glu1147Ter)
c.3583G>T (p.Glu1195Ter)
c.3496G>T (p.Glu1166Ter)
c.3304G>T (p.Glu1102Ter)
c.3079G>T (p.Glu1027Ter)
c.2761G>T (p.Glu921Ter)
c.3670G>T (p.Glu1224Ter)
13g.101083768C>GCA388651890NALCNc.3526G>C (p.Glu1176Gln)
c.3247G>C (p.Glu1083Gln)
c.3613G>C (p.Glu1205Gln)
c.3439G>C (p.Glu1147Gln)
c.3583G>C (p.Glu1195Gln)
c.3496G>C (p.Glu1166Gln)
c.3304G>C (p.Glu1102Gln)
c.3079G>C (p.Glu1027Gln)
c.2761G>C (p.Glu921Gln)
c.3670G>C (p.Glu1224Gln)
13g.101083768C>TCA388651891NALCNc.3526G>A (p.Glu1176Lys)
c.3247G>A (p.Glu1083Lys)
c.3613G>A (p.Glu1205Lys)
c.3439G>A (p.Glu1147Lys)
c.3583G>A (p.Glu1195Lys)
c.3496G>A (p.Glu1166Lys)
c.3304G>A (p.Glu1102Lys)
c.3079G>A (p.Glu1027Lys)
c.2761G>A (p.Glu921Lys)
c.3670G>A (p.Glu1224Lys)
13g.101083769C>ACA388651893NALCNc.3525G>T (p.Trp1175Cys)
c.3246G>T (p.Trp1082Cys)
c.3612G>T (p.Trp1204Cys)
c.3438G>T (p.Trp1146Cys)
c.3582G>T (p.Trp1194Cys)
c.3495G>T (p.Trp1165Cys)
c.3303G>T (p.Trp1101Cys)
c.3078G>T (p.Trp1026Cys)
c.2760G>T (p.Trp920Cys)
c.3669G>T (p.Trp1223Cys)
13g.101083769C=CA2114389783NALCNc.3525G= (p.Trp1175=)
c.3246G= (p.Trp1082=)
c.3612G= (p.Trp1204=)
c.3438G= (p.Trp1146=)
c.3582G= (p.Trp1194=)
c.3495G= (p.Trp1165=)
c.3303G= (p.Trp1101=)
c.3078G= (p.Trp1026=)
c.2760G= (p.Trp920=)
c.3669G= (p.Trp1223=)
13g.101083769C>GCA388651894NALCNc.3525G>C (p.Trp1175Cys)
c.3246G>C (p.Trp1082Cys)
c.3612G>C (p.Trp1204Cys)
c.3438G>C (p.Trp1146Cys)
c.3582G>C (p.Trp1194Cys)
c.3495G>C (p.Trp1165Cys)
c.3303G>C (p.Trp1101Cys)
c.3078G>C (p.Trp1026Cys)
c.2760G>C (p.Trp920Cys)
c.3669G>C (p.Trp1223Cys)
13g.101083769C>TCA255408558NALCNc.3525G>A (p.Trp1175Ter)
c.3246G>A (p.Trp1082Ter)
c.3612G>A (p.Trp1204Ter)
c.3438G>A (p.Trp1146Ter)
c.3582G>A (p.Trp1194Ter)
c.3495G>A (p.Trp1165Ter)
c.3303G>A (p.Trp1101Ter)
c.3078G>A (p.Trp1026Ter)
c.2760G>A (p.Trp920Ter)
c.3669G>A (p.Trp1223Ter)
 dbSNP gnomAD v4
13g.101083770C>ACA388651897NALCNc.3524G>T (p.Trp1175Leu)
c.3245G>T (p.Trp1082Leu)
c.3611G>T (p.Trp1204Leu)
c.3437G>T (p.Trp1146Leu)
c.3581G>T (p.Trp1194Leu)
c.3494G>T (p.Trp1165Leu)
c.3302G>T (p.Trp1101Leu)
c.3077G>T (p.Trp1026Leu)
c.2759G>T (p.Trp920Leu)
c.3668G>T (p.Trp1223Leu)
13g.101083770C>GCA388651898NALCNc.3524G>C (p.Trp1175Ser)
c.3245G>C (p.Trp1082Ser)
c.3611G>C (p.Trp1204Ser)
c.3437G>C (p.Trp1146Ser)
c.3581G>C (p.Trp1194Ser)
c.3494G>C (p.Trp1165Ser)
c.3302G>C (p.Trp1101Ser)
c.3077G>C (p.Trp1026Ser)
c.2759G>C (p.Trp920Ser)
c.3668G>C (p.Trp1223Ser)
13g.101083770C>TCA388651899NALCNc.3524G>A (p.Trp1175Ter)
c.3245G>A (p.Trp1082Ter)
c.3611G>A (p.Trp1204Ter)
c.3437G>A (p.Trp1146Ter)
c.3581G>A (p.Trp1194Ter)
c.3494G>A (p.Trp1165Ter)
c.3302G>A (p.Trp1101Ter)
c.3077G>A (p.Trp1026Ter)
c.2759G>A (p.Trp920Ter)
c.3668G>A (p.Trp1223Ter)
13g.101083771A>CCA388651901NALCNc.3523T>G (p.Trp1175Gly)
c.3244T>G (p.Trp1082Gly)
c.3610T>G (p.Trp1204Gly)
c.3436T>G (p.Trp1146Gly)
c.3580T>G (p.Trp1194Gly)
c.3493T>G (p.Trp1165Gly)
c.3301T>G (p.Trp1101Gly)
c.3076T>G (p.Trp1026Gly)
c.2758T>G (p.Trp920Gly)
c.3667T>G (p.Trp1223Gly)
13g.101083771A>GCA388651902NALCNc.3523T>C (p.Trp1175Arg)
c.3244T>C (p.Trp1082Arg)
c.3610T>C (p.Trp1204Arg)
c.3436T>C (p.Trp1146Arg)
c.3580T>C (p.Trp1194Arg)
c.3493T>C (p.Trp1165Arg)
c.3301T>C (p.Trp1101Arg)
c.3076T>C (p.Trp1026Arg)
c.2758T>C (p.Trp920Arg)
c.3667T>C (p.Trp1223Arg)
13g.101083771A>TCA388651900NALCNc.3523T>A (p.Trp1175Arg)
c.3244T>A (p.Trp1082Arg)
c.3610T>A (p.Trp1204Arg)
c.3436T>A (p.Trp1146Arg)
c.3580T>A (p.Trp1194Arg)
c.3493T>A (p.Trp1165Arg)
c.3301T>A (p.Trp1101Arg)
c.3076T>A (p.Trp1026Arg)
c.2758T>A (p.Trp920Arg)
c.3667T>A (p.Trp1223Arg)
13g.101083772T>ACA388651903NALCNc.3522A>T (p.Arg1174Ser)
c.3243A>T (p.Arg1081Ser)
c.3609A>T (p.Arg1203Ser)
c.3435A>T (p.Arg1145Ser)
c.3579A>T (p.Arg1193Ser)
c.3492A>T (p.Arg1164Ser)
c.3300A>T (p.Arg1100Ser)
c.3075A>T (p.Arg1025Ser)
c.2757A>T (p.Arg919Ser)
c.3666A>T (p.Arg1222Ser)
 ClinVar dbSNP
13g.101083772T>CCA484553419NALCNc.3522A>G (p.Arg1174=)
c.3243A>G (p.Arg1081=)
c.3609A>G (p.Arg1203=)
c.3435A>G (p.Arg1145=)
c.3579A>G (p.Arg1193=)
c.3492A>G (p.Arg1164=)
c.3300A>G (p.Arg1100=)
c.3075A>G (p.Arg1025=)
c.2757A>G (p.Arg919=)
c.3666A>G (p.Arg1222=)
13g.101083772T>GCA388651905NALCNc.3522A>C (p.Arg1174Ser)
c.3243A>C (p.Arg1081Ser)
c.3609A>C (p.Arg1203Ser)
c.3435A>C (p.Arg1145Ser)
c.3579A>C (p.Arg1193Ser)
c.3492A>C (p.Arg1164Ser)
c.3300A>C (p.Arg1100Ser)
c.3075A>C (p.Arg1025Ser)
c.2757A>C (p.Arg919Ser)
c.3666A>C (p.Arg1222Ser)
13g.101083772T=CA2114389784NALCNc.3522A= (p.Arg1174=)
c.3243A= (p.Arg1081=)
c.3609A= (p.Arg1203=)
c.3435A= (p.Arg1145=)
c.3579A= (p.Arg1193=)
c.3492A= (p.Arg1164=)
c.3300A= (p.Arg1100=)
c.3075A= (p.Arg1025=)
c.2757A= (p.Arg919=)
c.3666A= (p.Arg1222=)
13g.101083773C>ACA388651906NALCNc.3521G>T (p.Arg1174Ile)
c.3242G>T (p.Arg1081Ile)
c.3608G>T (p.Arg1203Ile)
c.3434G>T (p.Arg1145Ile)
c.3578G>T (p.Arg1193Ile)
c.3491G>T (p.Arg1164Ile)
c.3299G>T (p.Arg1100Ile)
c.3074G>T (p.Arg1025Ile)
c.2756G>T (p.Arg919Ile)
c.3665G>T (p.Arg1222Ile)
 ClinVar
13g.101083773C>GCA388651908NALCNc.3521G>C (p.Arg1174Thr)
c.3242G>C (p.Arg1081Thr)
c.3608G>C (p.Arg1203Thr)
c.3434G>C (p.Arg1145Thr)
c.3578G>C (p.Arg1193Thr)
c.3491G>C (p.Arg1164Thr)
c.3299G>C (p.Arg1100Thr)
c.3074G>C (p.Arg1025Thr)
c.2756G>C (p.Arg919Thr)
c.3665G>C (p.Arg1222Thr)
13g.101083773C>TCA388651910NALCNc.3521G>A (p.Arg1174Lys)
c.3242G>A (p.Arg1081Lys)
c.3608G>A (p.Arg1203Lys)
c.3434G>A (p.Arg1145Lys)
c.3578G>A (p.Arg1193Lys)
c.3491G>A (p.Arg1164Lys)
c.3299G>A (p.Arg1100Lys)
c.3074G>A (p.Arg1025Lys)
c.2756G>A (p.Arg919Lys)
c.3665G>A (p.Arg1222Lys)
13g.101083774T>ACA388651911NALCNc.3520A>T (p.Arg1174Ter)
c.3241A>T (p.Arg1081Ter)
c.3607A>T (p.Arg1203Ter)
c.3433A>T (p.Arg1145Ter)
c.3577A>T (p.Arg1193Ter)
c.3490A>T (p.Arg1164Ter)
c.3298A>T (p.Arg1100Ter)
c.3073A>T (p.Arg1025Ter)
c.2755A>T (p.Arg919Ter)
c.3664A>T (p.Arg1222Ter)
13g.101083774T>CCA388651912NALCNc.3520A>G (p.Arg1174Gly)
c.3241A>G (p.Arg1081Gly)
c.3607A>G (p.Arg1203Gly)
c.3433A>G (p.Arg1145Gly)
c.3577A>G (p.Arg1193Gly)
c.3490A>G (p.Arg1164Gly)
c.3298A>G (p.Arg1100Gly)
c.3073A>G (p.Arg1025Gly)
c.2755A>G (p.Arg919Gly)
c.3664A>G (p.Arg1222Gly)
13g.101083774T>GCA484553420NALCNc.3520A>C (p.Arg1174=)
c.3241A>C (p.Arg1081=)
c.3607A>C (p.Arg1203=)
c.3433A>C (p.Arg1145=)
c.3577A>C (p.Arg1193=)
c.3490A>C (p.Arg1164=)
c.3298A>C (p.Arg1100=)
c.3073A>C (p.Arg1025=)
c.2755A>C (p.Arg919=)
c.3664A>C (p.Arg1222=)
 dbSNP gnomAD v3 gnomAD v4
13g.101083774T=CA2114389785NALCNc.3520A= (p.Arg1174=)
c.3241A= (p.Arg1081=)
c.3607A= (p.Arg1203=)
c.3433A= (p.Arg1145=)
c.3577A= (p.Arg1193=)
c.3490A= (p.Arg1164=)
c.3298A= (p.Arg1100=)
c.3073A= (p.Arg1025=)
c.2755A= (p.Arg919=)
c.3664A= (p.Arg1222=)
13g.101083775T>ACA388651914NALCNc.3519A>T (p.Arg1173Ser)
c.3240A>T (p.Arg1080Ser)
c.3606A>T (p.Arg1202Ser)
c.3432A>T (p.Arg1144Ser)
c.3576A>T (p.Arg1192Ser)
c.3489A>T (p.Arg1163Ser)
c.3297A>T (p.Arg1099Ser)
c.3072A>T (p.Arg1024Ser)
c.2754A>T (p.Arg918Ser)
c.3663A>T (p.Arg1221Ser)
13g.101083775T>CCA484553421NALCNc.3519A>G (p.Arg1173=)
c.3240A>G (p.Arg1080=)
c.3606A>G (p.Arg1202=)
c.3432A>G (p.Arg1144=)
c.3576A>G (p.Arg1192=)
c.3489A>G (p.Arg1163=)
c.3297A>G (p.Arg1099=)
c.3072A>G (p.Arg1024=)
c.2754A>G (p.Arg918=)
c.3663A>G (p.Arg1221=)
13g.101083775T>GCA388651916NALCNc.3519A>C (p.Arg1173Ser)
c.3240A>C (p.Arg1080Ser)
c.3606A>C (p.Arg1202Ser)
c.3432A>C (p.Arg1144Ser)
c.3576A>C (p.Arg1192Ser)
c.3489A>C (p.Arg1163Ser)
c.3297A>C (p.Arg1099Ser)
c.3072A>C (p.Arg1024Ser)
c.2754A>C (p.Arg918Ser)
c.3663A>C (p.Arg1221Ser)
13g.101083776C>ACA388651917NALCNc.3518G>T (p.Arg1173Ile)
c.3239G>T (p.Arg1080Ile)
c.3605G>T (p.Arg1202Ile)
c.3431G>T (p.Arg1144Ile)
c.3575G>T (p.Arg1192Ile)
c.3488G>T (p.Arg1163Ile)
c.3296G>T (p.Arg1099Ile)
c.3071G>T (p.Arg1024Ile)
c.2753G>T (p.Arg918Ile)
c.3662G>T (p.Arg1221Ile)
13g.101083776C>GCA388651919NALCNc.3518G>C (p.Arg1173Thr)
c.3239G>C (p.Arg1080Thr)
c.3605G>C (p.Arg1202Thr)
c.3431G>C (p.Arg1144Thr)
c.3575G>C (p.Arg1192Thr)
c.3488G>C (p.Arg1163Thr)
c.3296G>C (p.Arg1099Thr)
c.3071G>C (p.Arg1024Thr)
c.2753G>C (p.Arg918Thr)
c.3662G>C (p.Arg1221Thr)
13g.101083776C>TCA388651920NALCNc.3518G>A (p.Arg1173Lys)
c.3239G>A (p.Arg1080Lys)
c.3605G>A (p.Arg1202Lys)
c.3431G>A (p.Arg1144Lys)
c.3575G>A (p.Arg1192Lys)
c.3488G>A (p.Arg1163Lys)
c.3296G>A (p.Arg1099Lys)
c.3071G>A (p.Arg1024Lys)
c.2753G>A (p.Arg918Lys)
c.3662G>A (p.Arg1221Lys)
13g.101083777T>ACA388651924NALCNc.3517A>T (p.Arg1173Ter)
c.3238A>T (p.Arg1080Ter)
c.3604A>T (p.Arg1202Ter)
c.3430A>T (p.Arg1144Ter)
c.3574A>T (p.Arg1192Ter)
c.3487A>T (p.Arg1163Ter)
c.3295A>T (p.Arg1099Ter)
c.3070A>T (p.Arg1024Ter)
c.2752A>T (p.Arg918Ter)
c.3661A>T (p.Arg1221Ter)
13g.101083777T>CCA388651922NALCNc.3517A>G (p.Arg1173Gly)
c.3238A>G (p.Arg1080Gly)
c.3604A>G (p.Arg1202Gly)
c.3430A>G (p.Arg1144Gly)
c.3574A>G (p.Arg1192Gly)
c.3487A>G (p.Arg1163Gly)
c.3295A>G (p.Arg1099Gly)
c.3070A>G (p.Arg1024Gly)
c.2752A>G (p.Arg918Gly)
c.3661A>G (p.Arg1221Gly)
13g.101083777T>GCA484553422NALCNc.3517A>C (p.Arg1173=)
c.3238A>C (p.Arg1080=)
c.3604A>C (p.Arg1202=)
c.3430A>C (p.Arg1144=)
c.3574A>C (p.Arg1192=)
c.3487A>C (p.Arg1163=)
c.3295A>C (p.Arg1099=)
c.3070A>C (p.Arg1024=)
c.2752A>C (p.Arg918=)
c.3661A>C (p.Arg1221=)
13g.101083778C>ACA388651925NALCNc.3516G>T (p.Gln1172His)
c.3237G>T (p.Gln1079His)
c.3603G>T (p.Gln1201His)
c.3429G>T (p.Gln1143His)
c.3573G>T (p.Gln1191His)
c.3486G>T (p.Gln1162His)
c.3294G>T (p.Gln1098His)
c.3069G>T (p.Gln1023His)
c.2751G>T (p.Gln917His)
c.3660G>T (p.Gln1220His)
13g.101083778C>GCA388651927NALCNc.3516G>C (p.Gln1172His)
c.3237G>C (p.Gln1079His)
c.3603G>C (p.Gln1201His)
c.3429G>C (p.Gln1143His)
c.3573G>C (p.Gln1191His)
c.3486G>C (p.Gln1162His)
c.3294G>C (p.Gln1098His)
c.3069G>C (p.Gln1023His)
c.2751G>C (p.Gln917His)
c.3660G>C (p.Gln1220His)
13g.101083778C>TCA484553423NALCNc.3516G>A (p.Gln1172=)
c.3237G>A (p.Gln1079=)
c.3603G>A (p.Gln1201=)
c.3429G>A (p.Gln1143=)
c.3573G>A (p.Gln1191=)
c.3486G>A (p.Gln1162=)
c.3294G>A (p.Gln1098=)
c.3069G>A (p.Gln1023=)
c.2751G>A (p.Gln917=)
c.3660G>A (p.Gln1220=)
13g.101083779T>ACA388651929NALCNc.3515A>T (p.Gln1172Leu)
c.3236A>T (p.Gln1079Leu)
c.3602A>T (p.Gln1201Leu)
c.3428A>T (p.Gln1143Leu)
c.3572A>T (p.Gln1191Leu)
c.3485A>T (p.Gln1162Leu)
c.3293A>T (p.Gln1098Leu)
c.3068A>T (p.Gln1023Leu)
c.2750A>T (p.Gln917Leu)
c.3659A>T (p.Gln1220Leu)
13g.101083779T>CCA388651931NALCNc.3515A>G (p.Gln1172Arg)
c.3236A>G (p.Gln1079Arg)
c.3602A>G (p.Gln1201Arg)
c.3428A>G (p.Gln1143Arg)
c.3572A>G (p.Gln1191Arg)
c.3485A>G (p.Gln1162Arg)
c.3293A>G (p.Gln1098Arg)
c.3068A>G (p.Gln1023Arg)
c.2750A>G (p.Gln917Arg)
c.3659A>G (p.Gln1220Arg)
13g.101083779T>GCA388651932NALCNc.3515A>C (p.Gln1172Pro)
c.3236A>C (p.Gln1079Pro)
c.3602A>C (p.Gln1201Pro)
c.3428A>C (p.Gln1143Pro)
c.3572A>C (p.Gln1191Pro)
c.3485A>C (p.Gln1162Pro)
c.3293A>C (p.Gln1098Pro)
c.3068A>C (p.Gln1023Pro)
c.2750A>C (p.Gln917Pro)
c.3659A>C (p.Gln1220Pro)
13g.101083780G>ACA388651933NALCNc.3514C>T (p.Gln1172Ter)
c.3235C>T (p.Gln1079Ter)
c.3601C>T (p.Gln1201Ter)
c.3427C>T (p.Gln1143Ter)
c.3571C>T (p.Gln1191Ter)
c.3484C>T (p.Gln1162Ter)
c.3292C>T (p.Gln1098Ter)
c.3067C>T (p.Gln1023Ter)
c.2749C>T (p.Gln917Ter)
c.3658C>T (p.Gln1220Ter)
13g.101083780G>CCA388651935NALCNc.3514C>G (p.Gln1172Glu)
c.3235C>G (p.Gln1079Glu)
c.3601C>G (p.Gln1201Glu)
c.3427C>G (p.Gln1143Glu)
c.3571C>G (p.Gln1191Glu)
c.3484C>G (p.Gln1162Glu)
c.3292C>G (p.Gln1098Glu)
c.3067C>G (p.Gln1023Glu)
c.2749C>G (p.Gln917Glu)
c.3658C>G (p.Gln1220Glu)
13g.101083780G>TCA388651937NALCNc.3514C>A (p.Gln1172Lys)
c.3235C>A (p.Gln1079Lys)
c.3601C>A (p.Gln1201Lys)
c.3427C>A (p.Gln1143Lys)
c.3571C>A (p.Gln1191Lys)
c.3484C>A (p.Gln1162Lys)
c.3292C>A (p.Gln1098Lys)
c.3067C>A (p.Gln1023Lys)
c.2749C>A (p.Gln917Lys)
c.3658C>A (p.Gln1220Lys)
13g.101083781A>CCA388651938NALCNc.3513T>G (p.Asp1171Glu)
c.3234T>G (p.Asp1078Glu)
c.3600T>G (p.Asp1200Glu)
c.3426T>G (p.Asp1142Glu)
c.3570T>G (p.Asp1190Glu)
c.3483T>G (p.Asp1161Glu)
c.3291T>G (p.Asp1097Glu)
c.3066T>G (p.Asp1022Glu)
c.2748T>G (p.Asp916Glu)
c.3657T>G (p.Asp1219Glu)
13g.101083781A>GCA484553424NALCNc.3513T>C (p.Asp1171=)
c.3234T>C (p.Asp1078=)
c.3600T>C (p.Asp1200=)
c.3426T>C (p.Asp1142=)
c.3570T>C (p.Asp1190=)
c.3483T>C (p.Asp1161=)
c.3291T>C (p.Asp1097=)
c.3066T>C (p.Asp1022=)
c.2748T>C (p.Asp916=)
c.3657T>C (p.Asp1219=)
13g.101083781A>TCA388651939NALCNc.3513T>A (p.Asp1171Glu)
c.3234T>A (p.Asp1078Glu)
c.3600T>A (p.Asp1200Glu)
c.3426T>A (p.Asp1142Glu)
c.3570T>A (p.Asp1190Glu)
c.3483T>A (p.Asp1161Glu)
c.3291T>A (p.Asp1097Glu)
c.3066T>A (p.Asp1022Glu)
c.2748T>A (p.Asp916Glu)
c.3657T>A (p.Asp1219Glu)
13g.101083782T>ACA388651940NALCNc.3512A>T (p.Asp1171Val)
c.3233A>T (p.Asp1078Val)
c.3599A>T (p.Asp1200Val)
c.3425A>T (p.Asp1142Val)
c.3569A>T (p.Asp1190Val)
c.3482A>T (p.Asp1161Val)
c.3290A>T (p.Asp1097Val)
c.3065A>T (p.Asp1022Val)
c.2747A>T (p.Asp916Val)
c.3656A>T (p.Asp1219Val)
13g.101083782T>CCA388651941NALCNc.3512A>G (p.Asp1171Gly)
c.3233A>G (p.Asp1078Gly)
c.3599A>G (p.Asp1200Gly)
c.3425A>G (p.Asp1142Gly)
c.3569A>G (p.Asp1190Gly)
c.3482A>G (p.Asp1161Gly)
c.3290A>G (p.Asp1097Gly)
c.3065A>G (p.Asp1022Gly)
c.2747A>G (p.Asp916Gly)
c.3656A>G (p.Asp1219Gly)
13g.101083782T>GCA388651942NALCNc.3512A>C (p.Asp1171Ala)
c.3233A>C (p.Asp1078Ala)
c.3599A>C (p.Asp1200Ala)
c.3425A>C (p.Asp1142Ala)
c.3569A>C (p.Asp1190Ala)
c.3482A>C (p.Asp1161Ala)
c.3290A>C (p.Asp1097Ala)
c.3065A>C (p.Asp1022Ala)
c.2747A>C (p.Asp916Ala)
c.3656A>C (p.Asp1219Ala)
13g.101083783C>ACA388651946NALCNc.3511G>T (p.Asp1171Tyr)
c.3232G>T (p.Asp1078Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3424G>T (p.Asp1142Tyr)
c.3568G>T (p.Asp1190Tyr)
c.3481G>T (p.Asp1161Tyr)
c.3289G>T (p.Asp1097Tyr)
c.3064G>T (p.Asp1022Tyr)
c.2746G>T (p.Asp916Tyr)
c.3655G>T (p.Asp1219Tyr)
13g.101083783C>GCA388651947NALCNc.3511G>C (p.Asp1171His)
c.3232G>C (p.Asp1078His)
c.3598G>C (p.Asp1200His)
c.3424G>C (p.Asp1142His)
c.3568G>C (p.Asp1190His)
c.3481G>C (p.Asp1161His)
c.3289G>C (p.Asp1097His)
c.3064G>C (p.Asp1022His)
c.2746G>C (p.Asp916His)
c.3655G>C (p.Asp1219His)
13g.101083783C>TCA388651944NALCNc.3511G>A (p.Asp1171Asn)
c.3232G>A (p.Asp1078Asn)
c.3598G>A (p.Asp1200Asn)
c.3424G>A (p.Asp1142Asn)
c.3568G>A (p.Asp1190Asn)
c.3481G>A (p.Asp1161Asn)
c.3289G>A (p.Asp1097Asn)
c.3064G>A (p.Asp1022Asn)
c.2746G>A (p.Asp916Asn)
c.3655G>A (p.Asp1219Asn)
 ClinVar dbSNP COSMIC
13g.101083784G>ACA484553425NALCNc.3510C>T (p.Val1170=)
c.3231C>T (p.Val1077=)
c.3597C>T (p.Val1199=)
c.3423C>T (p.Val1141=)
c.3567C>T (p.Val1189=)
c.3480C>T (p.Val1160=)
c.3288C>T (p.Val1096=)
c.3063C>T (p.Val1021=)
c.2745C>T (p.Val915=)
c.3654C>T (p.Val1218=)
 gnomAD v4 COSMIC
13g.101083784G>CCA484553426NALCNc.3510C>G (p.Val1170=)
c.3231C>G (p.Val1077=)
c.3597C>G (p.Val1199=)
c.3423C>G (p.Val1141=)
c.3567C>G (p.Val1189=)
c.3480C>G (p.Val1160=)
c.3288C>G (p.Val1096=)
c.3063C>G (p.Val1021=)
c.2745C>G (p.Val915=)
c.3654C>G (p.Val1218=)
 gnomAD v4
13g.101083784G>TCA484553427NALCNc.3510C>A (p.Val1170=)
c.3231C>A (p.Val1077=)
c.3597C>A (p.Val1199=)
c.3423C>A (p.Val1141=)
c.3567C>A (p.Val1189=)
c.3480C>A (p.Val1160=)
c.3288C>A (p.Val1096=)
c.3063C>A (p.Val1021=)
c.2745C>A (p.Val915=)
c.3654C>A (p.Val1218=)
 COSMIC
13g.101083785A>CCA388651949NALCNc.3509T>G (p.Val1170Gly)
c.3230T>G (p.Val1077Gly)
c.3596T>G (p.Val1199Gly)
c.3422T>G (p.Val1141Gly)
c.3566T>G (p.Val1189Gly)
c.3479T>G (p.Val1160Gly)
c.3287T>G (p.Val1096Gly)
c.3062T>G (p.Val1021Gly)
c.2744T>G (p.Val915Gly)
c.3653T>G (p.Val1218Gly)
13g.101083785A>GCA388651952NALCNc.3509T>C (p.Val1170Ala)
c.3230T>C (p.Val1077Ala)
c.3596T>C (p.Val1199Ala)
c.3422T>C (p.Val1141Ala)
c.3566T>C (p.Val1189Ala)
c.3479T>C (p.Val1160Ala)
c.3287T>C (p.Val1096Ala)
c.3062T>C (p.Val1021Ala)
c.2744T>C (p.Val915Ala)
c.3653T>C (p.Val1218Ala)
13g.101083785A>TCA388651950NALCNc.3509T>A (p.Val1170Asp)
c.3230T>A (p.Val1077Asp)
c.3596T>A (p.Val1199Asp)
c.3422T>A (p.Val1141Asp)
c.3566T>A (p.Val1189Asp)
c.3479T>A (p.Val1160Asp)
c.3287T>A (p.Val1096Asp)
c.3062T>A (p.Val1021Asp)
c.2744T>A (p.Val915Asp)
c.3653T>A (p.Val1218Asp)
13g.101083786C>ACA388651954NALCNc.3508G>T (p.Val1170Phe)
c.3229G>T (p.Val1077Phe)
c.3595G>T (p.Val1199Phe)
c.3421G>T (p.Val1141Phe)
c.3565G>T (p.Val1189Phe)
c.3478G>T (p.Val1160Phe)
c.3286G>T (p.Val1096Phe)
c.3061G>T (p.Val1021Phe)
c.2743G>T (p.Val915Phe)
c.3652G>T (p.Val1218Phe)
13g.101083786C=CA2114389786NALCNc.3508G= (p.Val1170=)
c.3229G= (p.Val1077=)
c.3595G= (p.Val1199=)
c.3421G= (p.Val1141=)
c.3565G= (p.Val1189=)
c.3478G= (p.Val1160=)
c.3286G= (p.Val1096=)
c.3061G= (p.Val1021=)
c.2743G= (p.Val915=)
c.3652G= (p.Val1218=)
13g.101083786C>GCA388651956NALCNc.3508G>C (p.Val1170Leu)
c.3229G>C (p.Val1077Leu)
c.3595G>C (p.Val1199Leu)
c.3421G>C (p.Val1141Leu)
c.3565G>C (p.Val1189Leu)
c.3478G>C (p.Val1160Leu)
c.3286G>C (p.Val1096Leu)
c.3061G>C (p.Val1021Leu)
c.2743G>C (p.Val915Leu)
c.3652G>C (p.Val1218Leu)
13g.101083786C>TCA7035374NALCNc.3508G>A (p.Val1170Ile)
c.3229G>A (p.Val1077Ile)
c.3595G>A (p.Val1199Ile)
c.3421G>A (p.Val1141Ile)
c.3565G>A (p.Val1189Ile)
c.3478G>A (p.Val1160Ile)
c.3286G>A (p.Val1096Ile)
c.3061G>A (p.Val1021Ile)
c.2743G>A (p.Val915Ile)
c.3652G>A (p.Val1218Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.101083787G>ACA255408584NALCNc.3507C>T (p.Thr1169=)
c.3228C>T (p.Thr1076=)
c.3594C>T (p.Thr1198=)
c.3420C>T (p.Thr1140=)
c.3564C>T (p.Thr1188=)
c.3477C>T (p.Thr1159=)
c.3285C>T (p.Thr1095=)
c.3060C>T (p.Thr1020=)
c.2742C>T (p.Thr914=)
c.3651C>T (p.Thr1217=)
 dbSNP gnomAD v4
13g.101083787G>CCA484553428NALCNc.3507C>G (p.Thr1169=)
c.3228C>G (p.Thr1076=)
c.3594C>G (p.Thr1198=)
c.3420C>G (p.Thr1140=)
c.3564C>G (p.Thr1188=)
c.3477C>G (p.Thr1159=)
c.3285C>G (p.Thr1095=)
c.3060C>G (p.Thr1020=)
c.2742C>G (p.Thr914=)
c.3651C>G (p.Thr1217=)
 COSMIC
13g.101083787G=CA2114389787NALCNc.3507C= (p.Thr1169=)
c.3228C= (p.Thr1076=)
c.3594C= (p.Thr1198=)
c.3420C= (p.Thr1140=)
c.3564C= (p.Thr1188=)
c.3477C= (p.Thr1159=)
c.3285C= (p.Thr1095=)
c.3060C= (p.Thr1020=)
c.2742C= (p.Thr914=)
c.3651C= (p.Thr1217=)
13g.101083787G>TCA484553429NALCNc.3507C>A (p.Thr1169=)
c.3228C>A (p.Thr1076=)
c.3594C>A (p.Thr1198=)
c.3420C>A (p.Thr1140=)
c.3564C>A (p.Thr1188=)
c.3477C>A (p.Thr1159=)
c.3285C>A (p.Thr1095=)
c.3060C>A (p.Thr1020=)
c.2742C>A (p.Thr914=)
c.3651C>A (p.Thr1217=)
 gnomAD v4
13g.101083788G>ACA388651959NALCNc.3506C>T (p.Thr1169Ile)
c.3227C>T (p.Thr1076Ile)
c.3593C>T (p.Thr1198Ile)
c.3419C>T (p.Thr1140Ile)
c.3563C>T (p.Thr1188Ile)
c.3476C>T (p.Thr1159Ile)
c.3284C>T (p.Thr1095Ile)
c.3059C>T (p.Thr1020Ile)
c.2741C>T (p.Thr914Ile)
c.3650C>T (p.Thr1217Ile)
13g.101083788G>CCA388651957NALCNc.3506C>G (p.Thr1169Ser)
c.3227C>G (p.Thr1076Ser)
c.3593C>G (p.Thr1198Ser)
c.3419C>G (p.Thr1140Ser)
c.3563C>G (p.Thr1188Ser)
c.3476C>G (p.Thr1159Ser)
c.3284C>G (p.Thr1095Ser)
c.3059C>G (p.Thr1020Ser)
c.2741C>G (p.Thr914Ser)
c.3650C>G (p.Thr1217Ser)
13g.101083788G>TCA388651960NALCNc.3506C>A (p.Thr1169Asn)
c.3227C>A (p.Thr1076Asn)
c.3593C>A (p.Thr1198Asn)
c.3419C>A (p.Thr1140Asn)
c.3563C>A (p.Thr1188Asn)
c.3476C>A (p.Thr1159Asn)
c.3284C>A (p.Thr1095Asn)
c.3059C>A (p.Thr1020Asn)
c.2741C>A (p.Thr914Asn)
c.3650C>A (p.Thr1217Asn)
13g.101083789T>ACA388651962NALCNc.3505A>T (p.Thr1169Ser)
c.3226A>T (p.Thr1076Ser)
c.3592A>T (p.Thr1198Ser)
c.3418A>T (p.Thr1140Ser)
c.3562A>T (p.Thr1188Ser)
c.3475A>T (p.Thr1159Ser)
c.3283A>T (p.Thr1095Ser)
c.3058A>T (p.Thr1020Ser)
c.2740A>T (p.Thr914Ser)
c.3649A>T (p.Thr1217Ser)
13g.101083789T>CCA388651963NALCNc.3505A>G (p.Thr1169Ala)
c.3226A>G (p.Thr1076Ala)
c.3592A>G (p.Thr1198Ala)
c.3418A>G (p.Thr1140Ala)
c.3562A>G (p.Thr1188Ala)
c.3475A>G (p.Thr1159Ala)
c.3283A>G (p.Thr1095Ala)
c.3058A>G (p.Thr1020Ala)
c.2740A>G (p.Thr914Ala)
c.3649A>G (p.Thr1217Ala)
13g.101083789T>GCA388651964NALCNc.3505A>C (p.Thr1169Pro)
c.3226A>C (p.Thr1076Pro)
c.3592A>C (p.Thr1198Pro)
c.3418A>C (p.Thr1140Pro)
c.3562A>C (p.Thr1188Pro)
c.3475A>C (p.Thr1159Pro)
c.3283A>C (p.Thr1095Pro)
c.3058A>C (p.Thr1020Pro)
c.2740A>C (p.Thr914Pro)
c.3649A>C (p.Thr1217Pro)
13g.101083790C>ACA484553430NALCNc.3504G>T (p.Leu1168=)
c.3225G>T (p.Leu1075=)
c.3591G>T (p.Leu1197=)
c.3417G>T (p.Leu1139=)
c.3561G>T (p.Leu1187=)
c.3474G>T (p.Leu1158=)
c.3282G>T (p.Leu1094=)
c.3057G>T (p.Leu1019=)
c.2739G>T (p.Leu913=)
c.3648G>T (p.Leu1216=)
13g.101083790C=CA2114389788NALCNc.3504G= (p.Leu1168=)
c.3225G= (p.Leu1075=)
c.3591G= (p.Leu1197=)
c.3417G= (p.Leu1139=)
c.3561G= (p.Leu1187=)
c.3474G= (p.Leu1158=)
c.3282G= (p.Leu1094=)
c.3057G= (p.Leu1019=)
c.2739G= (p.Leu913=)
c.3648G= (p.Leu1216=)
13g.101083790C>GCA484553431NALCNc.3504G>C (p.Leu1168=)
c.3225G>C (p.Leu1075=)
c.3591G>C (p.Leu1197=)
c.3417G>C (p.Leu1139=)
c.3561G>C (p.Leu1187=)
c.3474G>C (p.Leu1158=)
c.3282G>C (p.Leu1094=)
c.3057G>C (p.Leu1019=)
c.2739G>C (p.Leu913=)
c.3648G>C (p.Leu1216=)
 dbSNP gnomAD v4
13g.101083790C>TCA484553432NALCNc.3504G>A (p.Leu1168=)
c.3225G>A (p.Leu1075=)
c.3591G>A (p.Leu1197=)
c.3417G>A (p.Leu1139=)
c.3561G>A (p.Leu1187=)
c.3474G>A (p.Leu1158=)
c.3282G>A (p.Leu1094=)
c.3057G>A (p.Leu1019=)
c.2739G>A (p.Leu913=)
c.3648G>A (p.Leu1216=)
13g.101083791A>CCA388651966NALCNc.3503T>G (p.Leu1168Arg)
c.3224T>G (p.Leu1075Arg)
c.3590T>G (p.Leu1197Arg)
c.3416T>G (p.Leu1139Arg)
c.3560T>G (p.Leu1187Arg)
c.3473T>G (p.Leu1158Arg)
c.3281T>G (p.Leu1094Arg)
c.3056T>G (p.Leu1019Arg)
c.2738T>G (p.Leu913Arg)
c.3647T>G (p.Leu1216Arg)
13g.101083791A>GCA388651967NALCNc.3503T>C (p.Leu1168Pro)
c.3224T>C (p.Leu1075Pro)
c.3590T>C (p.Leu1197Pro)
c.3416T>C (p.Leu1139Pro)
c.3560T>C (p.Leu1187Pro)
c.3473T>C (p.Leu1158Pro)
c.3281T>C (p.Leu1094Pro)
c.3056T>C (p.Leu1019Pro)
c.2738T>C (p.Leu913Pro)
c.3647T>C (p.Leu1216Pro)
13g.101083791A>TCA388651969NALCNc.3503T>A (p.Leu1168Gln)
c.3224T>A (p.Leu1075Gln)
c.3590T>A (p.Leu1197Gln)
c.3416T>A (p.Leu1139Gln)
c.3560T>A (p.Leu1187Gln)
c.3473T>A (p.Leu1158Gln)
c.3281T>A (p.Leu1094Gln)
c.3056T>A (p.Leu1019Gln)
c.2738T>A (p.Leu913Gln)
c.3647T>A (p.Leu1216Gln)
13g.101083792G>ACA484553433NALCNc.3502C>T (p.Leu1168=)
c.3223C>T (p.Leu1075=)
c.3589C>T (p.Leu1197=)
c.3415C>T (p.Leu1139=)
c.3559C>T (p.Leu1187=)
c.3472C>T (p.Leu1158=)
c.3280C>T (p.Leu1094=)
c.3055C>T (p.Leu1019=)
c.2737C>T (p.Leu913=)
c.3646C>T (p.Leu1216=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.101083792G>CCA388651970NALCNc.3502C>G (p.Leu1168Val)
c.3223C>G (p.Leu1075Val)
c.3589C>G (p.Leu1197Val)
c.3415C>G (p.Leu1139Val)
c.3559C>G (p.Leu1187Val)
c.3472C>G (p.Leu1158Val)
c.3280C>G (p.Leu1094Val)
c.3055C>G (p.Leu1019Val)
c.2737C>G (p.Leu913Val)
c.3646C>G (p.Leu1216Val)
13g.101083792G=CA2114389789NALCNc.3502C= (p.Leu1168=)
c.3223C= (p.Leu1075=)
c.3589C= (p.Leu1197=)
c.3415C= (p.Leu1139=)
c.3559C= (p.Leu1187=)
c.3472C= (p.Leu1158=)
c.3280C= (p.Leu1094=)
c.3055C= (p.Leu1019=)
c.2737C= (p.Leu913=)
c.3646C= (p.Leu1216=)
13g.101083792G>TCA388651972NALCNc.3502C>A (p.Leu1168Met)
c.3223C>A (p.Leu1075Met)
c.3589C>A (p.Leu1197Met)
c.3415C>A (p.Leu1139Met)
c.3559C>A (p.Leu1187Met)
c.3472C>A (p.Leu1158Met)
c.3280C>A (p.Leu1094Met)
c.3055C>A (p.Leu1019Met)
c.2737C>A (p.Leu913Met)
c.3646C>A (p.Leu1216Met)
13g.101083793C>ACA388651974NALCNc.3501G>T (p.Leu1167Phe)
c.3222G>T (p.Leu1074Phe)
c.3588G>T (p.Leu1196Phe)
c.3414G>T (p.Leu1138Phe)
c.3558G>T (p.Leu1186Phe)
c.3471G>T (p.Leu1157Phe)
c.3279G>T (p.Leu1093Phe)
c.3054G>T (p.Leu1018Phe)
c.2736G>T (p.Leu912Phe)
c.3645G>T (p.Leu1215Phe)
13g.101083793C=CA2114389790NALCNc.3501G= (p.Leu1167=)
c.3222G= (p.Leu1074=)
c.3588G= (p.Leu1196=)
c.3414G= (p.Leu1138=)
c.3558G= (p.Leu1186=)
c.3471G= (p.Leu1157=)
c.3279G= (p.Leu1093=)
c.3054G= (p.Leu1018=)
c.2736G= (p.Leu912=)
c.3645G= (p.Leu1215=)
13g.101083793C>GCA388651975NALCNc.3501G>C (p.Leu1167Phe)
c.3222G>C (p.Leu1074Phe)
c.3588G>C (p.Leu1196Phe)
c.3414G>C (p.Leu1138Phe)
c.3558G>C (p.Leu1186Phe)
c.3471G>C (p.Leu1157Phe)
c.3279G>C (p.Leu1093Phe)
c.3054G>C (p.Leu1018Phe)
c.2736G>C (p.Leu912Phe)
c.3645G>C (p.Leu1215Phe)
13g.101083793C>TCA7035375NALCNc.3501G>A (p.Leu1167=)
c.3222G>A (p.Leu1074=)
c.3588G>A (p.Leu1196=)
c.3414G>A (p.Leu1138=)
c.3558G>A (p.Leu1186=)
c.3471G>A (p.Leu1157=)
c.3279G>A (p.Leu1093=)
c.3054G>A (p.Leu1018=)
c.2736G>A (p.Leu912=)
c.3645G>A (p.Leu1215=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.101083794A>CCA388651977NALCNc.3500T>G (p.Leu1167Trp)
c.3221T>G (p.Leu1074Trp)
c.3587T>G (p.Leu1196Trp)
c.3413T>G (p.Leu1138Trp)
c.3557T>G (p.Leu1186Trp)
c.3470T>G (p.Leu1157Trp)
c.3278T>G (p.Leu1093Trp)
c.3053T>G (p.Leu1018Trp)
c.2735T>G (p.Leu912Trp)
c.3644T>G (p.Leu1215Trp)
13g.101083794A>GCA388651978NALCNc.3500T>C (p.Leu1167Ser)
c.3221T>C (p.Leu1074Ser)
c.3587T>C (p.Leu1196Ser)
c.3413T>C (p.Leu1138Ser)
c.3557T>C (p.Leu1186Ser)
c.3470T>C (p.Leu1157Ser)
c.3278T>C (p.Leu1093Ser)
c.3053T>C (p.Leu1018Ser)
c.2735T>C (p.Leu912Ser)
c.3644T>C (p.Leu1215Ser)
13g.101083794A>TCA388651980NALCNc.3500T>A (p.Leu1167Ter)
c.3221T>A (p.Leu1074Ter)
c.3587T>A (p.Leu1196Ter)
c.3413T>A (p.Leu1138Ter)
c.3557T>A (p.Leu1186Ter)
c.3470T>A (p.Leu1157Ter)
c.3278T>A (p.Leu1093Ter)
c.3053T>A (p.Leu1018Ter)
c.2735T>A (p.Leu912Ter)
c.3644T>A (p.Leu1215Ter)
13g.101083795A>CCA388651983NALCNc.3499T>G (p.Leu1167Val)
c.3220T>G (p.Leu1074Val)
c.3586T>G (p.Leu1196Val)
c.3412T>G (p.Leu1138Val)
c.3556T>G (p.Leu1186Val)
c.3469T>G (p.Leu1157Val)
c.3277T>G (p.Leu1093Val)
c.3052T>G (p.Leu1018Val)
c.2734T>G (p.Leu912Val)
c.3643T>G (p.Leu1215Val)
13g.101083795A>GCA484553434NALCNc.3499T>C (p.Leu1167=)
c.3220T>C (p.Leu1074=)
c.3586T>C (p.Leu1196=)
c.3412T>C (p.Leu1138=)
c.3556T>C (p.Leu1186=)
c.3469T>C (p.Leu1157=)
c.3277T>C (p.Leu1093=)
c.3052T>C (p.Leu1018=)
c.2734T>C (p.Leu912=)
c.3643T>C (p.Leu1215=)
13g.101083795A>TCA388651982NALCNc.3499T>A (p.Leu1167Met)
c.3220T>A (p.Leu1074Met)
c.3586T>A (p.Leu1196Met)
c.3412T>A (p.Leu1138Met)
c.3556T>A (p.Leu1186Met)
c.3469T>A (p.Leu1157Met)
c.3277T>A (p.Leu1093Met)
c.3052T>A (p.Leu1018Met)
c.2734T>A (p.Leu912Met)
c.3643T>A (p.Leu1215Met)
13g.101083796A>CCA484553435NALCNc.3498T>G (p.Ala1166=)
c.3219T>G (p.Ala1073=)
c.3585T>G (p.Ala1195=)
c.3411T>G (p.Ala1137=)
c.3555T>G (p.Ala1185=)
c.3468T>G (p.Ala1156=)
c.3276T>G (p.Ala1092=)
c.3051T>G (p.Ala1017=)
c.2733T>G (p.Ala911=)
c.3642T>G (p.Ala1214=)
13g.101083796A>GCA484553436NALCNc.3498T>C (p.Ala1166=)
c.3219T>C (p.Ala1073=)
c.3585T>C (p.Ala1195=)
c.3411T>C (p.Ala1137=)
c.3555T>C (p.Ala1185=)
c.3468T>C (p.Ala1156=)
c.3276T>C (p.Ala1092=)
c.3051T>C (p.Ala1017=)
c.2733T>C (p.Ala911=)
c.3642T>C (p.Ala1214=)
13g.101083796A>TCA484553437NALCNc.3498T>A (p.Ala1166=)
c.3219T>A (p.Ala1073=)
c.3585T>A (p.Ala1195=)
c.3411T>A (p.Ala1137=)
c.3555T>A (p.Ala1185=)
c.3468T>A (p.Ala1156=)
c.3276T>A (p.Ala1092=)
c.3051T>A (p.Ala1017=)
c.2733T>A (p.Ala911=)
c.3642T>A (p.Ala1214=)
13g.101083797G>ACA388651985NALCNc.3497C>T (p.Ala1166Val)
c.3218C>T (p.Ala1073Val)
c.3584C>T (p.Ala1195Val)
c.3410C>T (p.Ala1137Val)
c.3554C>T (p.Ala1185Val)
c.3467C>T (p.Ala1156Val)
c.3275C>T (p.Ala1092Val)
c.3050C>T (p.Ala1017Val)
c.2732C>T (p.Ala911Val)
c.3641C>T (p.Ala1214Val)
 gnomAD v4 COSMIC
13g.101083797G>CCA388651987NALCNc.3497C>G (p.Ala1166Gly)
c.3218C>G (p.Ala1073Gly)
c.3584C>G (p.Ala1195Gly)
c.3410C>G (p.Ala1137Gly)
c.3554C>G (p.Ala1185Gly)
c.3467C>G (p.Ala1156Gly)
c.3275C>G (p.Ala1092Gly)
c.3050C>G (p.Ala1017Gly)
c.2732C>G (p.Ala911Gly)
c.3641C>G (p.Ala1214Gly)
13g.101083797G>TCA388651988NALCNc.3497C>A (p.Ala1166Asp)
c.3218C>A (p.Ala1073Asp)
c.3584C>A (p.Ala1195Asp)
c.3410C>A (p.Ala1137Asp)
c.3554C>A (p.Ala1185Asp)
c.3467C>A (p.Ala1156Asp)
c.3275C>A (p.Ala1092Asp)
c.3050C>A (p.Ala1017Asp)
c.2732C>A (p.Ala911Asp)
c.3641C>A (p.Ala1214Asp)
13g.101083798C>ACA388651990NALCNc.3496G>T (p.Ala1166Ser)
c.3217G>T (p.Ala1073Ser)
c.3583G>T (p.Ala1195Ser)
c.3409G>T (p.Ala1137Ser)
c.3553G>T (p.Ala1185Ser)
c.3466G>T (p.Ala1156Ser)
c.3274G>T (p.Ala1092Ser)
c.3049G>T (p.Ala1017Ser)
c.2731G>T (p.Ala911Ser)
c.3640G>T (p.Ala1214Ser)
13g.101083798C>GCA388651991NALCNc.3496G>C (p.Ala1166Pro)
c.3217G>C (p.Ala1073Pro)
c.3583G>C (p.Ala1195Pro)
c.3409G>C (p.Ala1137Pro)
c.3553G>C (p.Ala1185Pro)
c.3466G>C (p.Ala1156Pro)
c.3274G>C (p.Ala1092Pro)
c.3049G>C (p.Ala1017Pro)
c.2731G>C (p.Ala911Pro)
c.3640G>C (p.Ala1214Pro)
13g.101083798C>TCA388651992NALCNc.3496G>A (p.Ala1166Thr)
c.3217G>A (p.Ala1073Thr)
c.3583G>A (p.Ala1195Thr)
c.3409G>A (p.Ala1137Thr)
c.3553G>A (p.Ala1185Thr)
c.3466G>A (p.Ala1156Thr)
c.3274G>A (p.Ala1092Thr)
c.3049G>A (p.Ala1017Thr)
c.2731G>A (p.Ala911Thr)
c.3640G>A (p.Ala1214Thr)
13g.101083799C>ACA484553438NALCNc.3495G>T (p.Thr1165=)
c.3216G>T (p.Thr1072=)
c.3582G>T (p.Thr1194=)
c.3408G>T (p.Thr1136=)
c.3552G>T (p.Thr1184=)
c.3465G>T (p.Thr1155=)
c.3273G>T (p.Thr1091=)
c.3048G>T (p.Thr1016=)
c.2730G>T (p.Thr910=)
c.3639G>T (p.Thr1213=)
13g.101083799C=CA2114389791NALCNc.3495G= (p.Thr1165=)
c.3216G= (p.Thr1072=)
c.3582G= (p.Thr1194=)
c.3408G= (p.Thr1136=)
c.3552G= (p.Thr1184=)
c.3465G= (p.Thr1155=)
c.3273G= (p.Thr1091=)
c.3048G= (p.Thr1016=)
c.2730G= (p.Thr910=)
c.3639G= (p.Thr1213=)
13g.101083799C>GCA484553439NALCNc.3495G>C (p.Thr1165=)
c.3216G>C (p.Thr1072=)
c.3582G>C (p.Thr1194=)
c.3408G>C (p.Thr1136=)
c.3552G>C (p.Thr1184=)
c.3465G>C (p.Thr1155=)
c.3273G>C (p.Thr1091=)
c.3048G>C (p.Thr1016=)
c.2730G>C (p.Thr910=)
c.3639G>C (p.Thr1213=)
13g.101083799C>TCA7035376NALCNc.3495G>A (p.Thr1165=)
c.3216G>A (p.Thr1072=)
c.3582G>A (p.Thr1194=)
c.3408G>A (p.Thr1136=)
c.3552G>A (p.Thr1184=)
c.3465G>A (p.Thr1155=)
c.3273G>A (p.Thr1091=)
c.3048G>A (p.Thr1016=)
c.2730G>A (p.Thr910=)
c.3639G>A (p.Thr1213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.101083800G>ACA388651994NALCNc.3494C>T (p.Thr1165Met)
c.3215C>T (p.Thr1072Met)
c.3581C>T (p.Thr1194Met)
c.3407C>T (p.Thr1136Met)
c.3551C>T (p.Thr1184Met)
c.3464C>T (p.Thr1155Met)
c.3272C>T (p.Thr1091Met)
c.3047C>T (p.Thr1016Met)
c.2729C>T (p.Thr910Met)
c.3638C>T (p.Thr1213Met)
 gnomAD v4
13g.101083800G>CCA388651996NALCNc.3494C>G (p.Thr1165Arg)
c.3215C>G (p.Thr1072Arg)
c.3581C>G (p.Thr1194Arg)
c.3407C>G (p.Thr1136Arg)
c.3551C>G (p.Thr1184Arg)
c.3464C>G (p.Thr1155Arg)
c.3272C>G (p.Thr1091Arg)
c.3047C>G (p.Thr1016Arg)
c.2729C>G (p.Thr910Arg)
c.3638C>G (p.Thr1213Arg)
13g.101083800G>TCA388651997NALCNc.3494C>A (p.Thr1165Lys)
c.3215C>A (p.Thr1072Lys)
c.3581C>A (p.Thr1194Lys)
c.3407C>A (p.Thr1136Lys)
c.3551C>A (p.Thr1184Lys)
c.3464C>A (p.Thr1155Lys)
c.3272C>A (p.Thr1091Lys)
c.3047C>A (p.Thr1016Lys)
c.2729C>A (p.Thr910Lys)
c.3638C>A (p.Thr1213Lys)
13g.101083801T>ACA388651998NALCNc.3493A>T (p.Thr1165Ser)
c.3214A>T (p.Thr1072Ser)
c.3580A>T (p.Thr1194Ser)
c.3406A>T (p.Thr1136Ser)
c.3550A>T (p.Thr1184Ser)
c.3463A>T (p.Thr1155Ser)
c.3271A>T (p.Thr1091Ser)
c.3046A>T (p.Thr1016Ser)
c.2728A>T (p.Thr910Ser)
c.3637A>T (p.Thr1213Ser)
13g.101083801T>CCA388652000NALCNc.3493A>G (p.Thr1165Ala)
c.3214A>G (p.Thr1072Ala)
c.3580A>G (p.Thr1194Ala)
c.3406A>G (p.Thr1136Ala)
c.3550A>G (p.Thr1184Ala)
c.3463A>G (p.Thr1155Ala)
c.3271A>G (p.Thr1091Ala)
c.3046A>G (p.Thr1016Ala)
c.2728A>G (p.Thr910Ala)
c.3637A>G (p.Thr1213Ala)
13g.101083801T>GCA10581442NALCNc.3493A>C (p.Thr1165Pro)
c.3214A>C (p.Thr1072Pro)
c.3580A>C (p.Thr1194Pro)
c.3406A>C (p.Thr1136Pro)
c.3550A>C (p.Thr1184Pro)
c.3463A>C (p.Thr1155Pro)
c.3271A>C (p.Thr1091Pro)
c.3046A>C (p.Thr1016Pro)
c.2728A>C (p.Thr910Pro)
c.3637A>C (p.Thr1213Pro)
 ClinVar dbSNP
13g.101083801T=CA2114389792NALCNc.3493A= (p.Thr1165=)
c.3214A= (p.Thr1072=)
c.3580A= (p.Thr1194=)
c.3406A= (p.Thr1136=)
c.3550A= (p.Thr1184=)
c.3463A= (p.Thr1155=)
c.3271A= (p.Thr1091=)
c.3046A= (p.Thr1016=)
c.2728A= (p.Thr910=)
c.3637A= (p.Thr1213=)

Number of alleles fetched