Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.23340420C>ACA387535147SACSc.3015G>T (p.Lys1005Asn)
c.3456G>T (p.Lys1152Asn)
c.3483G>T (p.Lys1161Asn)
c.3507G>T (p.Lys1169Asn)
c.3474G>T (p.Lys1158Asn)
c.3447G>T (p.Lys1149Asn)
c.1206G>T (p.Lys402Asn)
n.1058-10936G>T (p.=)
n.2129+1025G>T
13g.23340420C>GCA387535148SACSc.3015G>C (p.Lys1005Asn)
c.3456G>C (p.Lys1152Asn)
c.3483G>C (p.Lys1161Asn)
c.3507G>C (p.Lys1169Asn)
c.3474G>C (p.Lys1158Asn)
c.3447G>C (p.Lys1149Asn)
c.1206G>C (p.Lys402Asn)
n.1058-10936G>C (p.=)
n.2129+1025G>C
13g.23340420C>TCA483163174SACSc.3015G>A (p.Lys1005=)
c.3456G>A (p.Lys1152=)
c.3483G>A (p.Lys1161=)
c.3507G>A (p.Lys1169=)
c.3474G>A (p.Lys1158=)
c.3447G>A (p.Lys1149=)
c.1206G>A (p.Lys402=)
n.1058-10936G>A (p.=)
n.2129+1025G>A
13g.23340421T>ACA387535154SACSc.3014A>T (p.Lys1005Met)
c.3455A>T (p.Lys1152Met)
c.3482A>T (p.Lys1161Met)
c.3506A>T (p.Lys1169Met)
c.3473A>T (p.Lys1158Met)
c.3446A>T (p.Lys1149Met)
c.1205A>T (p.Lys402Met)
n.1058-10937A>T (p.=)
n.2129+1024A>T
13g.23340421T>CCA387535151SACSc.3014A>G (p.Lys1005Arg)
c.3455A>G (p.Lys1152Arg)
c.3482A>G (p.Lys1161Arg)
c.3506A>G (p.Lys1169Arg)
c.3473A>G (p.Lys1158Arg)
c.3446A>G (p.Lys1149Arg)
c.1205A>G (p.Lys402Arg)
n.1058-10937A>G (p.=)
n.2129+1024A>G
13g.23340421T>GCA387535153SACSc.3014A>C (p.Lys1005Thr)
c.3455A>C (p.Lys1152Thr)
c.3482A>C (p.Lys1161Thr)
c.3506A>C (p.Lys1169Thr)
c.3473A>C (p.Lys1158Thr)
c.3446A>C (p.Lys1149Thr)
c.1205A>C (p.Lys402Thr)
n.1058-10937A>C (p.=)
n.2129+1024A>C
13g.23340422T>ACA387535157SACSc.3013A>T (p.Lys1005Ter)
c.3454A>T (p.Lys1152Ter)
c.3481A>T (p.Lys1161Ter)
c.3505A>T (p.Lys1169Ter)
c.3472A>T (p.Lys1158Ter)
c.3445A>T (p.Lys1149Ter)
c.1204A>T (p.Lys402Ter)
n.1058-10938A>T (p.=)
n.2129+1023A>T
13g.23340422T>CCA387535159SACSc.3013A>G (p.Lys1005Glu)
c.3454A>G (p.Lys1152Glu)
c.3481A>G (p.Lys1161Glu)
c.3505A>G (p.Lys1169Glu)
c.3472A>G (p.Lys1158Glu)
c.3445A>G (p.Lys1149Glu)
c.1204A>G (p.Lys402Glu)
n.1058-10938A>G (p.=)
n.2129+1023A>G
13g.23340422T>GCA387535161SACSc.3013A>C (p.Lys1005Gln)
c.3454A>C (p.Lys1152Gln)
c.3481A>C (p.Lys1161Gln)
c.3505A>C (p.Lys1169Gln)
c.3472A>C (p.Lys1158Gln)
c.3445A>C (p.Lys1149Gln)
c.1204A>C (p.Lys402Gln)
n.1058-10938A>C (p.=)
n.2129+1023A>C
13g.23340423C>ACA387535164SACSc.3012G>T (p.Leu1004Phe)
c.3453G>T (p.Leu1151Phe)
c.3480G>T (p.Leu1160Phe)
c.3504G>T (p.Leu1168Phe)
c.3471G>T (p.Leu1157Phe)
c.3444G>T (p.Leu1148Phe)
c.1203G>T (p.Leu401Phe)
n.1058-10939G>T (p.=)
n.2129+1022G>T
13g.23340423C>GCA387535166SACSc.3012G>C (p.Leu1004Phe)
c.3453G>C (p.Leu1151Phe)
c.3480G>C (p.Leu1160Phe)
c.3504G>C (p.Leu1168Phe)
c.3471G>C (p.Leu1157Phe)
c.3444G>C (p.Leu1148Phe)
c.1203G>C (p.Leu401Phe)
n.1058-10939G>C (p.=)
n.2129+1022G>C
13g.23340423C>TCA483163182SACSc.3012G>A (p.Leu1004=)
c.3453G>A (p.Leu1151=)
c.3480G>A (p.Leu1160=)
c.3504G>A (p.Leu1168=)
c.3471G>A (p.Leu1157=)
c.3444G>A (p.Leu1148=)
c.1203G>A (p.Leu401=)
n.1058-10939G>A (p.=)
n.2129+1022G>A
13g.23340424A>CCA387535172SACSc.3011T>G (p.Leu1004Trp)
c.3452T>G (p.Leu1151Trp)
c.3479T>G (p.Leu1160Trp)
c.3503T>G (p.Leu1168Trp)
c.3470T>G (p.Leu1157Trp)
c.3443T>G (p.Leu1148Trp)
c.1202T>G (p.Leu401Trp)
n.1058-10940T>G (p.=)
n.2129+1021T>G
13g.23340424A>GCA387535170SACSc.3011T>C (p.Leu1004Ser)
c.3452T>C (p.Leu1151Ser)
c.3479T>C (p.Leu1160Ser)
c.3503T>C (p.Leu1168Ser)
c.3470T>C (p.Leu1157Ser)
c.3443T>C (p.Leu1148Ser)
c.1202T>C (p.Leu401Ser)
n.1058-10940T>C (p.=)
n.2129+1021T>C
13g.23340424A>TCA387535168SACSc.3011T>A (p.Leu1004Ter)
c.3452T>A (p.Leu1151Ter)
c.3479T>A (p.Leu1160Ter)
c.3503T>A (p.Leu1168Ter)
c.3470T>A (p.Leu1157Ter)
c.3443T>A (p.Leu1148Ter)
c.1202T>A (p.Leu401Ter)
n.1058-10940T>A (p.=)
n.2129+1021T>A
13g.23340425A>CCA387535175SACSc.3010T>G (p.Leu1004Val)
c.3451T>G (p.Leu1151Val)
c.3478T>G (p.Leu1160Val)
c.3502T>G (p.Leu1168Val)
c.3469T>G (p.Leu1157Val)
c.3442T>G (p.Leu1148Val)
c.1201T>G (p.Leu401Val)
n.1058-10941T>G (p.=)
n.2129+1020T>G
13g.23340425A>GCA483163184SACSc.3010T>C (p.Leu1004=)
c.3451T>C (p.Leu1151=)
c.3478T>C (p.Leu1160=)
c.3502T>C (p.Leu1168=)
c.3469T>C (p.Leu1157=)
c.3442T>C (p.Leu1148=)
c.1201T>C (p.Leu401=)
n.1058-10941T>C (p.=)
n.2129+1020T>C
13g.23340425A>TCA387535177SACSc.3010T>A (p.Leu1004Met)
c.3451T>A (p.Leu1151Met)
c.3478T>A (p.Leu1160Met)
c.3502T>A (p.Leu1168Met)
c.3469T>A (p.Leu1157Met)
c.3442T>A (p.Leu1148Met)
c.1201T>A (p.Leu401Met)
n.1058-10941T>A (p.=)
n.2129+1020T>A
13g.23340426T>ACA483163186SACSc.3009A>T (p.Thr1003=)
c.3450A>T (p.Thr1150=)
c.3477A>T (p.Thr1159=)
c.3501A>T (p.Thr1167=)
c.3468A>T (p.Thr1156=)
c.3441A>T (p.Thr1147=)
c.1200A>T (p.Thr400=)
n.1058-10942A>T (p.=)
n.2129+1019A>T
13g.23340426T>CCA483163189SACSc.3009A>G (p.Thr1003=)
c.3450A>G (p.Thr1150=)
c.3477A>G (p.Thr1159=)
c.3501A>G (p.Thr1167=)
c.3468A>G (p.Thr1156=)
c.3441A>G (p.Thr1147=)
c.1200A>G (p.Thr400=)
n.1058-10942A>G (p.=)
n.2129+1019A>G
13g.23340426T>GCA483163191SACSc.3009A>C (p.Thr1003=)
c.3450A>C (p.Thr1150=)
c.3477A>C (p.Thr1159=)
c.3501A>C (p.Thr1167=)
c.3468A>C (p.Thr1156=)
c.3441A>C (p.Thr1147=)
c.1200A>C (p.Thr400=)
n.1058-10942A>C (p.=)
n.2129+1019A>C
13g.23340427G>ACA6911518SACSc.3008C>T (p.Thr1003Ile)
c.3449C>T (p.Thr1150Ile)
c.3476C>T (p.Thr1159Ile)
c.3500C>T (p.Thr1167Ile)
c.3467C>T (p.Thr1156Ile)
c.3440C>T (p.Thr1147Ile)
c.1199C>T (p.Thr400Ile)
n.1058-10943C>T (p.=)
n.2129+1018C>T
dbSNP ExAC gnomAD
13g.23340427G>CCA387535184SACSc.3008C>G (p.Thr1003Arg)
c.3449C>G (p.Thr1150Arg)
c.3476C>G (p.Thr1159Arg)
c.3500C>G (p.Thr1167Arg)
c.3467C>G (p.Thr1156Arg)
c.3440C>G (p.Thr1147Arg)
c.1199C>G (p.Thr400Arg)
n.1058-10943C>G (p.=)
n.2129+1018C>G
13g.23340427G>TCA387535182SACSc.3008C>A (p.Thr1003Lys)
c.3449C>A (p.Thr1150Lys)
c.3476C>A (p.Thr1159Lys)
c.3500C>A (p.Thr1167Lys)
c.3467C>A (p.Thr1156Lys)
c.3440C>A (p.Thr1147Lys)
c.1199C>A (p.Thr400Lys)
n.1058-10943C>A (p.=)
n.2129+1018C>A
13g.23340428T>ACA387535188SACSc.3007A>T (p.Thr1003Ser)
c.3448A>T (p.Thr1150Ser)
c.3475A>T (p.Thr1159Ser)
c.3499A>T (p.Thr1167Ser)
c.3466A>T (p.Thr1156Ser)
c.3439A>T (p.Thr1147Ser)
c.1198A>T (p.Thr400Ser)
n.1058-10944A>T (p.=)
n.2129+1017A>T
13g.23340428T>CCA387535189SACSc.3007A>G (p.Thr1003Ala)
c.3448A>G (p.Thr1150Ala)
c.3475A>G (p.Thr1159Ala)
c.3499A>G (p.Thr1167Ala)
c.3466A>G (p.Thr1156Ala)
c.3439A>G (p.Thr1147Ala)
c.1198A>G (p.Thr400Ala)
n.1058-10944A>G (p.=)
n.2129+1017A>G
13g.23340428T>GCA387535191SACSc.3007A>C (p.Thr1003Pro)
c.3448A>C (p.Thr1150Pro)
c.3475A>C (p.Thr1159Pro)
c.3499A>C (p.Thr1167Pro)
c.3466A>C (p.Thr1156Pro)
c.3439A>C (p.Thr1147Pro)
c.1198A>C (p.Thr400Pro)
n.1058-10944A>C (p.=)
n.2129+1017A>C
13g.23340429C>ACA387535195SACSc.3006G>T (p.Met1002Ile)
c.3447G>T (p.Met1149Ile)
c.3474G>T (p.Met1158Ile)
c.3498G>T (p.Met1166Ile)
c.3465G>T (p.Met1155Ile)
c.3438G>T (p.Met1146Ile)
c.1197G>T (p.Met399Ile)
n.1058-10945G>T (p.=)
n.2129+1016G>T
13g.23340429C>GCA387535197SACSc.3006G>C (p.Met1002Ile)
c.3447G>C (p.Met1149Ile)
c.3474G>C (p.Met1158Ile)
c.3498G>C (p.Met1166Ile)
c.3465G>C (p.Met1155Ile)
c.3438G>C (p.Met1146Ile)
c.1197G>C (p.Met399Ile)
n.1058-10945G>C (p.=)
n.2129+1016G>C
13g.23340429C>TCA387535199SACSc.3006G>A (p.Met1002Ile)
c.3447G>A (p.Met1149Ile)
c.3474G>A (p.Met1158Ile)
c.3498G>A (p.Met1166Ile)
c.3465G>A (p.Met1155Ile)
c.3438G>A (p.Met1146Ile)
c.1197G>A (p.Met399Ile)
n.1058-10945G>A (p.=)
n.2129+1016G>A
13g.23340430A>CCA6911519SACSc.3005T>G (p.Met1002Arg)
c.3446T>G (p.Met1149Arg)
c.3473T>G (p.Met1158Arg)
c.3497T>G (p.Met1166Arg)
c.3464T>G (p.Met1155Arg)
c.3437T>G (p.Met1146Arg)
c.1196T>G (p.Met399Arg)
n.1058-10946T>G (p.=)
n.2129+1015T>G
dbSNP ExAC gnomAD
13g.23340430A>GCA387535201SACSc.3005T>C (p.Met1002Thr)
c.3446T>C (p.Met1149Thr)
c.3473T>C (p.Met1158Thr)
c.3497T>C (p.Met1166Thr)
c.3464T>C (p.Met1155Thr)
c.3437T>C (p.Met1146Thr)
c.1196T>C (p.Met399Thr)
n.1058-10946T>C (p.=)
n.2129+1015T>C
13g.23340430A>TCA387535206SACSc.3005T>A (p.Met1002Lys)
c.3446T>A (p.Met1149Lys)
c.3473T>A (p.Met1158Lys)
c.3497T>A (p.Met1166Lys)
c.3464T>A (p.Met1155Lys)
c.3437T>A (p.Met1146Lys)
c.1196T>A (p.Met399Lys)
n.1058-10946T>A (p.=)
n.2129+1015T>A
13g.23340431T>ACA387535207SACSc.3004A>T (p.Met1002Leu)
c.3445A>T (p.Met1149Leu)
c.3472A>T (p.Met1158Leu)
c.3496A>T (p.Met1166Leu)
c.3463A>T (p.Met1155Leu)
c.3436A>T (p.Met1146Leu)
c.1195A>T (p.Met399Leu)
n.1058-10947A>T (p.=)
n.2129+1014A>T
13g.23340431T>CCA387535208SACSc.3004A>G (p.Met1002Val)
c.3445A>G (p.Met1149Val)
c.3472A>G (p.Met1158Val)
c.3496A>G (p.Met1166Val)
c.3463A>G (p.Met1155Val)
c.3436A>G (p.Met1146Val)
c.1195A>G (p.Met399Val)
n.1058-10947A>G (p.=)
n.2129+1014A>G
13g.23340431T>GCA387535210SACSc.3004A>C (p.Met1002Leu)
c.3445A>C (p.Met1149Leu)
c.3472A>C (p.Met1158Leu)
c.3496A>C (p.Met1166Leu)
c.3463A>C (p.Met1155Leu)
c.3436A>C (p.Met1146Leu)
c.1195A>C (p.Met399Leu)
n.1058-10947A>C (p.=)
n.2129+1014A>C
13g.23340432C>ACA387535213SACSc.3003G>T (p.Lys1001Asn)
c.3444G>T (p.Lys1148Asn)
c.3471G>T (p.Lys1157Asn)
c.3495G>T (p.Lys1165Asn)
c.3462G>T (p.Lys1154Asn)
c.3435G>T (p.Lys1145Asn)
c.1194G>T (p.Lys398Asn)
n.1058-10948G>T (p.=)
n.2129+1013G>T
13g.23340432C>GCA387535215SACSc.3003G>C (p.Lys1001Asn)
c.3444G>C (p.Lys1148Asn)
c.3471G>C (p.Lys1157Asn)
c.3495G>C (p.Lys1165Asn)
c.3462G>C (p.Lys1154Asn)
c.3435G>C (p.Lys1145Asn)
c.1194G>C (p.Lys398Asn)
n.1058-10948G>C (p.=)
n.2129+1013G>C
13g.23340432C>TCA483163205SACSc.3003G>A (p.Lys1001=)
c.3444G>A (p.Lys1148=)
c.3471G>A (p.Lys1157=)
c.3495G>A (p.Lys1165=)
c.3462G>A (p.Lys1154=)
c.3435G>A (p.Lys1145=)
c.1194G>A (p.Lys398=)
n.1058-10948G>A (p.=)
n.2129+1013G>A
13g.23340433T>ACA387535218SACSc.3002A>T (p.Lys1001Met)
c.3443A>T (p.Lys1148Met)
c.3470A>T (p.Lys1157Met)
c.3494A>T (p.Lys1165Met)
c.3461A>T (p.Lys1154Met)
c.3434A>T (p.Lys1145Met)
c.1193A>T (p.Lys398Met)
n.1058-10949A>T (p.=)
n.2129+1012A>T
13g.23340433T>CCA387535221SACSc.3002A>G (p.Lys1001Arg)
c.3443A>G (p.Lys1148Arg)
c.3470A>G (p.Lys1157Arg)
c.3494A>G (p.Lys1165Arg)
c.3461A>G (p.Lys1154Arg)
c.3434A>G (p.Lys1145Arg)
c.1193A>G (p.Lys398Arg)
n.1058-10949A>G (p.=)
n.2129+1012A>G
gnomAD
13g.23340433T>GCA6911520SACSc.3002A>C (p.Lys1001Thr)
c.3443A>C (p.Lys1148Thr)
c.3470A>C (p.Lys1157Thr)
c.3494A>C (p.Lys1165Thr)
c.3461A>C (p.Lys1154Thr)
c.3434A>C (p.Lys1145Thr)
c.1193A>C (p.Lys398Thr)
n.1058-10949A>C (p.=)
n.2129+1012A>C
dbSNP ExAC gnomAD
13g.23340434T>ACA387535224SACSc.3001A>T (p.Lys1001Ter)
c.3442A>T (p.Lys1148Ter)
c.3469A>T (p.Lys1157Ter)
c.3493A>T (p.Lys1165Ter)
c.3460A>T (p.Lys1154Ter)
c.3433A>T (p.Lys1145Ter)
c.1192A>T (p.Lys398Ter)
n.1058-10950A>T (p.=)
n.2129+1011A>T
13g.23340434T>CCA387535226SACSc.3001A>G (p.Lys1001Glu)
c.3442A>G (p.Lys1148Glu)
c.3469A>G (p.Lys1157Glu)
c.3493A>G (p.Lys1165Glu)
c.3460A>G (p.Lys1154Glu)
c.3433A>G (p.Lys1145Glu)
c.1192A>G (p.Lys398Glu)
n.1058-10950A>G (p.=)
n.2129+1011A>G
13g.23340434T>GCA387535228SACSc.3001A>C (p.Lys1001Gln)
c.3442A>C (p.Lys1148Gln)
c.3469A>C (p.Lys1157Gln)
c.3493A>C (p.Lys1165Gln)
c.3460A>C (p.Lys1154Gln)
c.3433A>C (p.Lys1145Gln)
c.1192A>C (p.Lys398Gln)
n.1058-10950A>C (p.=)
n.2129+1011A>C
13g.23340435T>ACA483163208SACSc.3000A>T (p.Gly1000=)
c.3441A>T (p.Gly1147=)
c.3468A>T (p.Gly1156=)
c.3492A>T (p.Gly1164=)
c.3459A>T (p.Gly1153=)
c.3432A>T (p.Gly1144=)
c.1191A>T (p.Gly397=)
n.1058-10951A>T (p.=)
n.2129+1010A>T
13g.23340435T>CCA483163210SACSc.3000A>G (p.Gly1000=)
c.3441A>G (p.Gly1147=)
c.3468A>G (p.Gly1156=)
c.3492A>G (p.Gly1164=)
c.3459A>G (p.Gly1153=)
c.3432A>G (p.Gly1144=)
c.1191A>G (p.Gly397=)
n.1058-10951A>G (p.=)
n.2129+1010A>G
13g.23340435T>GCA483163209SACSc.3000A>C (p.Gly1000=)
c.3441A>C (p.Gly1147=)
c.3468A>C (p.Gly1156=)
c.3492A>C (p.Gly1164=)
c.3459A>C (p.Gly1153=)
c.3432A>C (p.Gly1144=)
c.1191A>C (p.Gly397=)
n.1058-10951A>C (p.=)
n.2129+1010A>C
13g.23340436C>ACA387535233SACSc.2999G>T (p.Gly1000Val)
c.3440G>T (p.Gly1147Val)
c.3467G>T (p.Gly1156Val)
c.3491G>T (p.Gly1164Val)
c.3458G>T (p.Gly1153Val)
c.3431G>T (p.Gly1144Val)
c.1190G>T (p.Gly397Val)
n.1058-10952G>T (p.=)
n.2129+1009G>T
13g.23340436C>GCA387535234SACSc.2999G>C (p.Gly1000Ala)
c.3440G>C (p.Gly1147Ala)
c.3467G>C (p.Gly1156Ala)
c.3491G>C (p.Gly1164Ala)
c.3458G>C (p.Gly1153Ala)
c.3431G>C (p.Gly1144Ala)
c.1190G>C (p.Gly397Ala)
n.1058-10952G>C (p.=)
n.2129+1009G>C

Number of alleles fetched