Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153869759del | CA645151949 | L1CAM | c.1123+48del (n.1123+48del) c.1108+48del (n.1108+48del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869759C>A | CA2695068539 | L1CAM | c.1123+44G>T (n.1123+44G>T) c.1108+44G>T (n.1108+44G>T) | gnomAD v4 |
X | g.153869759C= | CA2466506907 | L1CAM | c.1123+44G= (n.1123+44G=) c.1108+44G= (n.1108+44G=) | |
X | g.153869759C>G | CA645151950 | L1CAM | c.1123+44G>C (n.1123+44G>C) c.1108+44G>C (n.1108+44G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869761G>T | CA2579732963 | L1CAM | c.1123+42C>A (n.1123+42C>A) c.1108+42C>A (n.1108+42C>A) | |
X | g.153869762G>A | CA10554429 | L1CAM | c.1123+41C>T (n.1123+41C>T) c.1108+41C>T (n.1108+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869762G= | CA2466506908 | L1CAM | c.1123+41C= (n.1123+41C=) c.1108+41C= (n.1108+41C=) | |
X | g.153869763G>A | CA2466506910 | L1CAM | c.1123+40C>T (n.1123+40C>T) c.1108+40C>T (n.1108+40C>T) | dbSNP gnomAD v4 |
X | g.153869763G>C | CA2695068540 | L1CAM | c.1123+40C>G (n.1123+40C>G) c.1108+40C>G (n.1108+40C>G) | gnomAD v4 |
X | g.153869763G= | CA2466506909 | L1CAM | c.1123+40C= (n.1123+40C=) c.1108+40C= (n.1108+40C=) | |
X | g.153869766C= | CA2466506911 | L1CAM | c.1123+37G= (n.1123+37G=) c.1108+37G= (n.1108+37G=) | |
X | g.153869766C>G | CA1138548633 | L1CAM | c.1123+37G>C (n.1123+37G>C) c.1108+37G>C (n.1108+37G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153869766C>T | CA10554430 | L1CAM | c.1123+37G>A (n.1123+37G>A) c.1108+37G>A (n.1108+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869767G>A | CA10554431 | L1CAM | c.1123+36C>T (n.1123+36C>T) c.1108+36C>T (n.1108+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869767G= | CA2466506912 | L1CAM | c.1123+36C= (n.1123+36C=) c.1108+36C= (n.1108+36C=) | |
X | g.153869767G>T | CA2466506913 | L1CAM | c.1123+36C>A (n.1123+36C>A) c.1108+36C>A (n.1108+36C>A) | dbSNP |
X | g.153869768C= | CA2466506914 | L1CAM | c.1123+35G= (n.1123+35G=) c.1108+35G= (n.1108+35G=) | |
X | g.153869768C>G | CA873290368 | L1CAM | c.1123+35G>C (n.1123+35G>C) c.1108+35G>C (n.1108+35G>C) | dbSNP |
X | g.153869769C>A | CA2466506916 | L1CAM | c.1123+34G>T (n.1123+34G>T) c.1108+34G>T (n.1108+34G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.153869769C= | CA2466506915 | L1CAM | c.1123+34G= (n.1123+34G=) c.1108+34G= (n.1108+34G=) | |
X | g.153869771C= | CA2466506917 | L1CAM | c.1123+32G= (n.1123+32G=) c.1108+32G= (n.1108+32G=) | |
X | g.153869771C>T | CA10554432 | L1CAM | c.1123+32G>A (n.1123+32G>A) c.1108+32G>A (n.1108+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869773C>G | CA2842767243 | L1CAM | c.1123+30G>C (n.1123+30G>C) c.1108+30G>C (n.1108+30G>C) | |
X | g.153869776C>T | CA2695068541 | L1CAM | c.1123+27G>A (n.1123+27G>A) c.1108+27G>A (n.1108+27G>A) | gnomAD v4 |
X | g.153869777C>T | CA2695068542 | L1CAM | c.1123+26G>A (n.1123+26G>A) c.1108+26G>A (n.1108+26G>A) | gnomAD v4 |
X | g.153869778C= | CA2466506918 | L1CAM | c.1123+25G= (n.1123+25G=) c.1108+25G= (n.1108+25G=) | |
X | g.153869778C>G | CA2466506919 | L1CAM | c.1123+25G>C (n.1123+25G>C) c.1108+25G>C (n.1108+25G>C) | dbSNP gnomAD v4 |
X | g.153869779A>C | CA2579732964 | L1CAM | c.1123+24T>G (n.1123+24T>G) c.1108+24T>G (n.1108+24T>G) | |
X | g.153869780C>A | CA2824280684 | L1CAM | c.1123+23G>T (n.1123+23G>T) c.1108+23G>T (n.1108+23G>T) | |
X | g.153869781T>C | CA645288978 | L1CAM | c.1123+22A>G (n.1123+22A>G) c.1108+22A>G (n.1108+22A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869781T= | CA2466506920 | L1CAM | c.1123+22A= (n.1123+22A=) c.1108+22A= (n.1108+22A=) | |
X | g.153869783C>A | CA10554433 | L1CAM | c.1123+20G>T (n.1123+20G>T) c.1108+20G>T (n.1108+20G>T) | dbSNP ExAC gnomAD v2 |
X | g.153869783C= | CA2466506921 | L1CAM | c.1123+20G= (n.1123+20G=) c.1108+20G= (n.1108+20G=) | |
X | g.153869783C>T | CA10554434 | L1CAM | c.1123+20G>A (n.1123+20G>A) c.1108+20G>A (n.1108+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869789G>T | CA2824280685 | L1CAM | c.1123+14C>A (n.1123+14C>A) c.1108+14C>A (n.1108+14C>A) | |
X | g.153869790A>T | CA2695068543 | L1CAM | c.1123+13T>A (n.1123+13T>A) c.1108+13T>A (n.1108+13T>A) | gnomAD v4 |
X | g.153869791G>A | CA2695068544 | L1CAM | c.1123+12C>T (n.1123+12C>T) c.1108+12C>T (n.1108+12C>T) | ClinVar gnomAD v4 |
X | g.153869791G>T | CA2579732965 | L1CAM | c.1123+12C>A (n.1123+12C>A) c.1108+12C>A (n.1108+12C>A) | |
X | g.153869792G>A | CA645288979 | L1CAM | c.1123+11C>T (n.1123+11C>T) c.1108+11C>T (n.1108+11C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153869792G= | CA2466506922 | L1CAM | c.1123+11C= (n.1123+11C=) c.1108+11C= (n.1108+11C=) | |
X | g.153869794C>G | CA2695068545 | L1CAM | c.1123+9G>C (n.1123+9G>C) c.1108+9G>C (n.1108+9G>C) | gnomAD v4 |
X | g.153869794C>T | CA2695068546 | L1CAM | c.1123+9G>A (n.1123+9G>A) c.1108+9G>A (n.1108+9G>A) | gnomAD v4 |
X | g.153869795C= | CA2466506923 | L1CAM | c.1123+8G= (n.1123+8G=) c.1108+8G= (n.1108+8G=) | |
X | g.153869795C>T | CA645288980 | L1CAM | c.1123+8G>A (n.1123+8G>A) c.1108+8G>A (n.1108+8G>A) | dbSNP gnomAD v2 |
X | g.153869797G>A | CA2695068547 | L1CAM | c.1123+6C>T (n.1123+6C>T) c.1108+6C>T (n.1108+6C>T) | gnomAD v4 |
X | g.153869797G>C | CA10554435 | L1CAM | c.1123+6C>G (n.1123+6C>G) c.1108+6C>G (n.1108+6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.153869797G= | CA2466506924 | L1CAM | c.1123+6C= (n.1123+6C=) c.1108+6C= (n.1108+6C=) | |
X | g.153869797G>T | CA2695068548 | L1CAM | c.1123+6C>A (n.1123+6C>A) c.1108+6C>A (n.1108+6C>A) | gnomAD v4 |
X | g.153869798C= | CA2466506925 | L1CAM | c.1123+5G= (n.1123+5G=) c.1108+5G= (n.1108+5G=) | |
X | g.153869798C>T | CA658659081 | L1CAM | c.1123+5G>A (n.1123+5G>A) c.1108+5G>A (n.1108+5G>A) | ClinVar dbSNP |
X | g.153869800C>A | CA2824280686 | L1CAM | c.1123+3G>T (n.1123+3G>T) c.1108+3G>T (n.1108+3G>T) | |
X | g.153869800C>T | CA2580101877 | L1CAM | c.1123+3G>A (n.1123+3G>A) c.1108+3G>A (n.1108+3G>A) | ClinVar gnomAD v4 |
X | g.153869801A>C | CA415130276 | L1CAM | c.1123+2T>G (n.1123+2T>G) c.1108+2T>G (n.1108+2T>G) | |
X | g.153869801A>G | CA415130277 | L1CAM | c.1123+2T>C (n.1123+2T>C) c.1108+2T>C (n.1108+2T>C) | |
X | g.153869801A>T | CA415130281 | L1CAM | c.1123+2T>A (n.1123+2T>A) c.1108+2T>A (n.1108+2T>A) | |
X | g.153869802C>A | CA415130288 | L1CAM | c.1123+1G>T (n.1123+1G>T) c.1108+1G>T (n.1108+1G>T) | |
X | g.153869802C>G | CA415130287 | L1CAM | c.1123+1G>C (n.1123+1G>C) c.1108+1G>C (n.1108+1G>C) | |
X | g.153869802C>T | CA415130286 | L1CAM | c.1123+1G>A (n.1123+1G>A) c.1108+1G>A (n.1108+1G>A) | |
X | g.153869803C>A | CA415130289 | L1CAM | c.1123G>T (p.Glu375Ter) c.1108G>T (p.Glu370Ter) | |
X | g.153869803C>G | CA415130294 | L1CAM | c.1123G>C (p.Glu375Gln) c.1108G>C (p.Glu370Gln) | |
X | g.153869803C>T | CA415130291 | L1CAM | c.1123G>A (p.Glu375Lys) c.1108G>A (p.Glu370Lys) | |
X | g.153869804C>A | CA415130297 | L1CAM | c.1122G>T (p.Glu374Asp) c.1107G>T (p.Glu369Asp) | |
X | g.153869804C>G | CA415130300 | L1CAM | c.1122G>C (p.Glu374Asp) c.1107G>C (p.Glu369Asp) | |
X | g.153869804C>T | CA519343910 | L1CAM | c.1122G>A (p.Glu374=) c.1107G>A (p.Glu369=) | |
X | g.153869805T>A | CA415130303 | L1CAM | c.1121A>T (p.Glu374Val) c.1106A>T (p.Glu369Val) | |
X | g.153869805T>C | CA415130305 | L1CAM | c.1121A>G (p.Glu374Gly) c.1106A>G (p.Glu369Gly) | |
X | g.153869805T>G | CA415130308 | L1CAM | c.1121A>C (p.Glu374Ala) c.1106A>C (p.Glu369Ala) | |
X | g.153869806C>A | CA415130319 | L1CAM | c.1120G>T (p.Glu374Ter) c.1105G>T (p.Glu369Ter) | ClinVar dbSNP |
X | g.153869806C= | CA2466506926 | L1CAM | c.1120G= (p.Glu374=) c.1105G= (p.Glu369=) | |
X | g.153869806C>G | CA415130318 | L1CAM | c.1120G>C (p.Glu374Gln) c.1105G>C (p.Glu369Gln) | |
X | g.153869806C>T | CA337263239 | L1CAM | c.1120G>A (p.Glu374Lys) c.1105G>A (p.Glu369Lys) | dbSNP gnomAD v4 |
X | g.153869807C>A | CA519343911 | L1CAM | c.1119G>T (p.Val373=) c.1104G>T (p.Val368=) | |
X | g.153869807C= | CA2466506927 | L1CAM | c.1119G= (p.Val373=) c.1104G= (p.Val368=) | |
X | g.153869807C>G | CA519343912 | L1CAM | c.1119G>C (p.Val373=) c.1104G>C (p.Val368=) | dbSNP |
X | g.153869807C>T | CA519343913 | L1CAM | c.1119G>A (p.Val373=) c.1104G>A (p.Val368=) | gnomAD v4 |
X | g.153869808A>C | CA415130323 | L1CAM | c.1118T>G (p.Val373Gly) c.1103T>G (p.Val368Gly) | |
X | g.153869808A>G | CA415130324 | L1CAM | c.1118T>C (p.Val373Ala) c.1103T>C (p.Val368Ala) | ClinVar |
X | g.153869808A>T | CA415130325 | L1CAM | c.1118T>A (p.Val373Glu) c.1103T>A (p.Val368Glu) | |
X | g.153869809C>A | CA415130326 | L1CAM | c.1117G>T (p.Val373Leu) c.1102G>T (p.Val368Leu) | |
X | g.153869809C= | CA2466506928 | L1CAM | c.1117G= (p.Val373=) c.1102G= (p.Val368=) | |
X | g.153869809C>G | CA415130327 | L1CAM | c.1117G>C (p.Val373Leu) c.1102G>C (p.Val368Leu) | |
X | g.153869809C>T | CA415130330 | L1CAM | c.1117G>A (p.Val373Met) c.1102G>A (p.Val368Met) | ClinVar dbSNP gnomAD v4 |
X | g.153869810A>C | CA519343914 | L1CAM | c.1116T>G (p.Pro372=) c.1101T>G (p.Pro367=) | |
X | g.153869810A>G | CA519343916 | L1CAM | c.1116T>C (p.Pro372=) c.1101T>C (p.Pro367=) | |
X | g.153869810A>T | CA519343915 | L1CAM | c.1116T>A (p.Pro372=) c.1101T>A (p.Pro367=) | |
X | g.153869811G>A | CA415130333 | L1CAM | c.1115C>T (p.Pro372Leu) c.1100C>T (p.Pro367Leu) | |
X | g.153869811G>C | CA415130341 | L1CAM | c.1115C>G (p.Pro372Arg) c.1100C>G (p.Pro367Arg) | |
X | g.153869811G>T | CA415130337 | L1CAM | c.1115C>A (p.Pro372His) c.1100C>A (p.Pro367His) | |
X | g.153869812G>A | CA415130345 | L1CAM | c.1114C>T (p.Pro372Ser) c.1099C>T (p.Pro367Ser) | COSMIC |
X | g.153869812G>C | CA415130348 | L1CAM | c.1114C>G (p.Pro372Ala) c.1099C>G (p.Pro367Ala) | |
X | g.153869812G>T | CA415130350 | L1CAM | c.1114C>A (p.Pro372Thr) c.1099C>A (p.Pro367Thr) | |
X | g.153869813G>A | CA519343917 | L1CAM | c.1113C>T (p.Ile371=) c.1098C>T (p.Ile366=) | |
X | g.153869813G>C | CA415130354 | L1CAM | c.1113C>G (p.Ile371Met) c.1098C>G (p.Ile366Met) | |
X | g.153869813G>T | CA519343918 | L1CAM | c.1113C>A (p.Ile371=) c.1098C>A (p.Ile366=) | |
X | g.153869814A>C | CA415130358 | L1CAM | c.1112T>G (p.Ile371Ser) c.1097T>G (p.Ile366Ser) | |
X | g.153869814A>G | CA415130361 | L1CAM | c.1112T>C (p.Ile371Thr) c.1097T>C (p.Ile366Thr) | |
X | g.153869814A>T | CA415130364 | L1CAM | c.1112T>A (p.Ile371Asn) c.1097T>A (p.Ile366Asn) | |
X | g.153869815T>A | CA337263246 | L1CAM | c.1111A>T (p.Ile371Phe) c.1096A>T (p.Ile366Phe) | dbSNP gnomAD v4 |
X | g.153869815T>C | CA415130379 | L1CAM | c.1111A>G (p.Ile371Val) c.1096A>G (p.Ile366Val) | |
X | g.153869815T>G | CA415130385 | L1CAM | c.1111A>C (p.Ile371Leu) c.1096A>C (p.Ile366Leu) | |
X | g.153869815T= | CA2466506929 | L1CAM | c.1111A= (p.Ile371=) c.1096A= (p.Ile366=) | |
X | g.153869816C>A | CA519343919 | L1CAM | c.1110G>T (p.Gly370=) c.1095G>T (p.Gly365=) | |
X | g.153869816C>G | CA519343921 | L1CAM | c.1110G>C (p.Gly370=) c.1095G>C (p.Gly365=) | gnomAD v4 |
X | g.153869816C>T | CA519343920 | L1CAM | c.1110G>A (p.Gly370=) c.1095G>A (p.Gly365=) | gnomAD v4 COSMIC |
X | g.153869817C>A | CA415130388 | L1CAM | c.1109G>T (p.Gly370Val) c.1094G>T (p.Gly365Val) | |
X | g.153869817C= | CA2466506930 | L1CAM | c.1109G= (p.Gly370=) c.1094G= (p.Gly365=) | |
X | g.153869817C>G | CA415130395 | L1CAM | c.1109G>C (p.Gly370Ala) c.1094G>C (p.Gly365Ala) | |
X | g.153869817C>T | CA415130391 | L1CAM | c.1109G>A (p.Gly370Glu) c.1094G>A (p.Gly365Glu) | dbSNP |
X | g.153869818C>A | CA415130399 | L1CAM | c.1108G>T (p.Gly370Trp) c.1093G>T (p.Gly365Trp) | gnomAD v4 |
X | g.153869818C= | CA2466506931 | L1CAM | c.1108G= (p.Gly370=) c.1093G= (p.Gly365=) | |
X | g.153869818C>G | CA415130400 | L1CAM | c.1108G>C (p.Gly370Arg) c.1093G>C (p.Gly365Arg) | |
X | g.153869818C>T | CA254962 | L1CAM | c.1108G>A (p.Gly370Arg) c.1093G>A (p.Gly365Arg) | ClinVar dbSNP |
X | g.153869819G>A | CA10554436 | L1CAM | c.1107C>T (p.Asn369=) c.1092C>T (p.Asn364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153869819G>C | CA415130401 | L1CAM | c.1107C>G (p.Asn369Lys) c.1092C>G (p.Asn364Lys) | |
X | g.153869819G= | CA2466506932 | L1CAM | c.1107C= (p.Asn369=) c.1092C= (p.Asn364=) | |
X | g.153869819G>T | CA415130404 | L1CAM | c.1107C>A (p.Asn369Lys) c.1092C>A (p.Asn364Lys) | |
X | g.153869820T>A | CA415130407 | L1CAM | c.1106A>T (p.Asn369Ile) c.1091A>T (p.Asn364Ile) | |
X | g.153869820T>C | CA415130410 | L1CAM | c.1106A>G (p.Asn369Ser) c.1091A>G (p.Asn364Ser) | |
X | g.153869820T>G | CA415130412 | L1CAM | c.1106A>C (p.Asn369Thr) c.1091A>C (p.Asn364Thr) | |
X | g.153869821T>A | CA415130415 | L1CAM | c.1105A>T (p.Asn369Tyr) c.1090A>T (p.Asn364Tyr) | |
X | g.153869821T>C | CA415130423 | L1CAM | c.1105A>G (p.Asn369Asp) c.1090A>G (p.Asn364Asp) | |
X | g.153869821T>G | CA415130431 | L1CAM | c.1105A>C (p.Asn369His) c.1090A>C (p.Asn364His) | |
X | g.153869822G>A | CA519343922 | L1CAM | c.1104C>T (p.Ile368=) c.1089C>T (p.Ile363=) | gnomAD v4 |
X | g.153869822G>C | CA415130434 | L1CAM | c.1104C>G (p.Ile368Met) c.1089C>G (p.Ile363Met) | |
X | g.153869822G>T | CA519343923 | L1CAM | c.1104C>A (p.Ile368=) c.1089C>A (p.Ile363=) | |
X | g.153869823A>C | CA415130437 | L1CAM | c.1103T>G (p.Ile368Ser) c.1088T>G (p.Ile363Ser) | |
X | g.153869823A>G | CA415130440 | L1CAM | c.1103T>C (p.Ile368Thr) c.1088T>C (p.Ile363Thr) | |
X | g.153869823A>T | CA415130447 | L1CAM | c.1103T>A (p.Ile368Asn) c.1088T>A (p.Ile363Asn) | ClinVar dbSNP |
X | g.153869824T>A | CA415130450 | L1CAM | c.1102A>T (p.Ile368Phe) c.1087A>T (p.Ile363Phe) | |
X | g.153869824T>C | CA415130453 | L1CAM | c.1102A>G (p.Ile368Val) c.1087A>G (p.Ile363Val) | |
X | g.153869824T>G | CA415130461 | L1CAM | c.1102A>C (p.Ile368Leu) c.1087A>C (p.Ile363Leu) | |
X | g.153869825T>A | CA415130466 | L1CAM | c.1101A>T (p.Arg367Ser) c.1086A>T (p.Arg362Ser) | |
X | g.153869825T>C | CA519343924 | L1CAM | c.1101A>G (p.Arg367=) c.1086A>G (p.Arg362=) | ClinVar gnomAD v4 |
X | g.153869825T>G | CA415130469 | L1CAM | c.1101A>C (p.Arg367Ser) c.1086A>C (p.Arg362Ser) | |
X | g.153869826C>A | CA415130492 | L1CAM | c.1100G>T (p.Arg367Ile) c.1085G>T (p.Arg362Ile) | |
X | g.153869826C= | CA2466506933 | L1CAM | c.1100G= (p.Arg367=) c.1085G= (p.Arg362=) | |
X | g.153869826C>G | CA415130493 | L1CAM | c.1100G>C (p.Arg367Thr) c.1085G>C (p.Arg362Thr) | |
X | g.153869826C>T | CA415130494 | L1CAM | c.1100G>A (p.Arg367Lys) c.1085G>A (p.Arg362Lys) | ClinVar dbSNP gnomAD v4 |
X | g.153869827T>A | CA415130495 | L1CAM | c.1099A>T (p.Arg367Ter) c.1084A>T (p.Arg362Ter) | |
X | g.153869827T>C | CA415130498 | L1CAM | c.1099A>G (p.Arg367Gly) c.1084A>G (p.Arg362Gly) | |
X | g.153869827T>G | CA519343925 | L1CAM | c.1099A>C (p.Arg367=) c.1084A>C (p.Arg362=) | |
X | g.153869828C>A | CA415130500 | L1CAM | c.1098G>T (p.Trp366Cys) c.1083G>T (p.Trp361Cys) | |
X | g.153869828C>G | CA415130502 | L1CAM | c.1098G>C (p.Trp366Cys) c.1083G>C (p.Trp361Cys) | |
X | g.153869828C>T | CA415130503 | L1CAM | c.1098G>A (p.Trp366Ter) c.1083G>A (p.Trp361Ter) | |
X | g.153869829C>A | CA415130507 | L1CAM | c.1097G>T (p.Trp366Leu) c.1082G>T (p.Trp361Leu) | |
X | g.153869829C>G | CA415130508 | L1CAM | c.1097G>C (p.Trp366Ser) c.1082G>C (p.Trp361Ser) | |
X | g.153869829C>T | CA415130510 | L1CAM | c.1097G>A (p.Trp366Ter) c.1082G>A (p.Trp361Ter) | |
X | g.153869830A>C | CA415130513 | L1CAM | c.1096T>G (p.Trp366Gly) c.1081T>G (p.Trp361Gly) | |
X | g.153869830A>G | CA415130514 | L1CAM | c.1096T>C (p.Trp366Arg) c.1081T>C (p.Trp361Arg) | |
X | g.153869830A>T | CA415130518 | L1CAM | c.1096T>A (p.Trp366Arg) c.1081T>A (p.Trp361Arg) | |
X | g.153869831G>A | CA519343928 | L1CAM | c.1095C>T (p.Thr365=) c.1080C>T (p.Thr360=) | |
X | g.153869831G>C | CA519343926 | L1CAM | c.1095C>G (p.Thr365=) c.1080C>G (p.Thr360=) | |
X | g.153869831G>T | CA519343927 | L1CAM | c.1095C>A (p.Thr365=) c.1080C>A (p.Thr360=) | |
X | g.153869832G>A | CA415130530 | L1CAM | c.1094C>T (p.Thr365Ile) c.1079C>T (p.Thr360Ile) | |
X | g.153869832G>C | CA415130533 | L1CAM | c.1094C>G (p.Thr365Ser) c.1079C>G (p.Thr360Ser) | |
X | g.153869832G>T | CA415130541 | L1CAM | c.1094C>A (p.Thr365Asn) c.1079C>A (p.Thr360Asn) | |
X | g.153869833T>A | CA415130554 | L1CAM | c.1093A>T (p.Thr365Ser) c.1078A>T (p.Thr360Ser) | |
X | g.153869833T>C | CA415130549 | L1CAM | c.1093A>G (p.Thr365Ala) c.1078A>G (p.Thr360Ala) | |
X | g.153869833T>G | CA415130546 | L1CAM | c.1093A>C (p.Thr365Pro) c.1078A>C (p.Thr360Pro) | |
X | g.153869834G>A | CA10554437 | L1CAM | c.1092C>T (p.Val364=) c.1077C>T (p.Val359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153869834G>C | CA519343929 | L1CAM | c.1092C>G (p.Val364=) c.1077C>G (p.Val359=) | |
X | g.153869834G= | CA2466506934 | L1CAM | c.1092C= (p.Val364=) c.1077C= (p.Val359=) | |
X | g.153869834G>T | CA519343930 | L1CAM | c.1092C>A (p.Val364=) c.1077C>A (p.Val359=) | |
X | g.153869835A>C | CA415130561 | L1CAM | c.1091T>G (p.Val364Gly) c.1076T>G (p.Val359Gly) | |
X | g.153869835A>G | CA415130564 | L1CAM | c.1091T>C (p.Val364Ala) c.1076T>C (p.Val359Ala) | |
X | g.153869835A>T | CA415130567 | L1CAM | c.1091T>A (p.Val364Asp) c.1076T>A (p.Val359Asp) | |
X | g.153869836C>A | CA415130571 | L1CAM | c.1090G>T (p.Val364Phe) c.1075G>T (p.Val359Phe) | |
X | g.153869836C>G | CA415130573 | L1CAM | c.1090G>C (p.Val364Leu) c.1075G>C (p.Val359Leu) | |
X | g.153869836C>T | CA415130577 | L1CAM | c.1090G>A (p.Val364Ile) c.1075G>A (p.Val359Ile) | gnomAD v4 |
X | g.153869837C>A | CA415130580 | L1CAM | c.1089G>T (p.Glu363Asp) c.1074G>T (p.Glu358Asp) | |
X | g.153869837C>G | CA415130583 | L1CAM | c.1089G>C (p.Glu363Asp) c.1074G>C (p.Glu358Asp) | |
X | g.153869837C>T | CA519343931 | L1CAM | c.1089G>A (p.Glu363=) c.1074G>A (p.Glu358=) | |
X | g.153869839_153869840del | CA2579732966 | L1CAM | c.1088_1089del (p.Glu363GlyfsTer?) c.1073_1074del (p.Glu358GlyfsTer?) | |
X | g.153869838T>A | CA415130585 | L1CAM | c.1088A>T (p.Glu363Val) c.1073A>T (p.Glu358Val) | |
X | g.153869838T>C | CA337263275 | L1CAM | c.1088A>G (p.Glu363Gly) c.1073A>G (p.Glu358Gly) | dbSNP gnomAD v4 |
X | g.153869838T>G | CA415130589 | L1CAM | c.1088A>C (p.Glu363Ala) c.1073A>C (p.Glu358Ala) | |
X | g.153869838T= | CA2466506935 | L1CAM | c.1088A= (p.Glu363=) c.1073A= (p.Glu358=) | |
X | g.153869839C>A | CA415130594 | L1CAM | c.1087G>T (p.Glu363Ter) c.1072G>T (p.Glu358Ter) | |
X | g.153869839C>G | CA415130601 | L1CAM | c.1087G>C (p.Glu363Gln) c.1072G>C (p.Glu358Gln) | |
X | g.153869839C>T | CA415130600 | L1CAM | c.1087G>A (p.Glu363Lys) c.1072G>A (p.Glu358Lys) | |
X | g.153869840T>A | CA519343932 | L1CAM | c.1086A>T (p.Pro362=) c.1071A>T (p.Pro357=) | |
X | g.153869840T>C | CA519343933 | L1CAM | c.1086A>G (p.Pro362=) c.1071A>G (p.Pro357=) | |
X | g.153869840T>G | CA519343934 | L1CAM | c.1086A>C (p.Pro362=) c.1071A>C (p.Pro357=) | |
X | g.153869841G>A | CA415130602 | L1CAM | c.1085C>T (p.Pro362Leu) c.1070C>T (p.Pro357Leu) | |
X | g.153869841G>C | CA415130603 | L1CAM | c.1085C>G (p.Pro362Arg) c.1070C>G (p.Pro357Arg) | |
X | g.153869841G>T | CA415130604 | L1CAM | c.1085C>A (p.Pro362Gln) c.1070C>A (p.Pro357Gln) | |
X | g.153869842G>A | CA415130605 | L1CAM | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) | |
X | g.153869842G>C | CA415130606 | L1CAM | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) | |
X | g.153869842G>T | CA415130608 | L1CAM | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) | gnomAD v4 |
X | g.153869843T>A | CA415130611 | L1CAM | c.1083A>T (p.Gln361His) c.1068A>T (p.Gln356His) | ClinVar |
X | g.153869843T>C | CA519343935 | L1CAM | c.1083A>G (p.Gln361=) c.1068A>G (p.Gln356=) | |
X | g.153869843T>G | CA415130615 | L1CAM | c.1083A>C (p.Gln361His) c.1068A>C (p.Gln356His) | |
X | g.153869844T>A | CA415130618 | L1CAM | c.1082A>T (p.Gln361Leu) c.1067A>T (p.Gln356Leu) | |
X | g.153869844T>C | CA415130620 | L1CAM | c.1082A>G (p.Gln361Arg) c.1067A>G (p.Gln356Arg) | |
X | g.153869844T>G | CA415130622 | L1CAM | c.1082A>C (p.Gln361Pro) c.1067A>C (p.Gln356Pro) | |
X | g.153869845G>A | CA415130630 | L1CAM | c.1081C>T (p.Gln361Ter) c.1066C>T (p.Gln356Ter) | |
X | g.153869845G>C | CA415130624 | L1CAM | c.1081C>G (p.Gln361Glu) c.1066C>G (p.Gln356Glu) | |
X | g.153869845G>T | CA415130626 | L1CAM | c.1081C>A (p.Gln361Lys) c.1066C>A (p.Gln356Lys) | |
X | g.153869846G>A | CA519343938 | L1CAM | c.1080C>T (p.Pro360=) c.1065C>T (p.Pro355=) | |
X | g.153869846G>C | CA519343936 | L1CAM | c.1080C>G (p.Pro360=) c.1065C>G (p.Pro355=) | |
X | g.153869846G>T | CA519343937 | L1CAM | c.1080C>A (p.Pro360=) c.1065C>A (p.Pro355=) | |
X | g.153869847G>A | CA415130632 | L1CAM | c.1079C>T (p.Pro360Leu) c.1064C>T (p.Pro355Leu) | gnomAD v4 |
X | g.153869847G>C | CA415130635 | L1CAM | c.1079C>G (p.Pro360Arg) c.1064C>G (p.Pro355Arg) | |
X | g.153869847G>T | CA415130637 | L1CAM | c.1079C>A (p.Pro360His) c.1064C>A (p.Pro355His) | |
X | g.153869848G>A | CA415130639 | L1CAM | c.1078C>T (p.Pro360Ser) c.1063C>T (p.Pro355Ser) | gnomAD v4 |
X | g.153869848G>C | CA415130640 | L1CAM | c.1078C>G (p.Pro360Ala) c.1063C>G (p.Pro355Ala) | |
X | g.153869848G>T | CA415130643 | L1CAM | c.1078C>A (p.Pro360Thr) c.1063C>A (p.Pro355Thr) | |
X | g.153869849C>A | CA415130649 | L1CAM | c.1077G>T (p.Arg359Ser) c.1062G>T (p.Arg354Ser) | |
X | g.153869849C>G | CA415130651 | L1CAM | c.1077G>C (p.Arg359Ser) c.1062G>C (p.Arg354Ser) | |
X | g.153869849C>T | CA519343939 | L1CAM | c.1077G>A (p.Arg359=) c.1062G>A (p.Arg354=) | gnomAD v4 |
X | g.153869850C>A | CA415130653 | L1CAM | c.1076G>T (p.Arg359Met) c.1061G>T (p.Arg354Met) | |
X | g.153869850C>G | CA415130655 | L1CAM | c.1076G>C (p.Arg359Thr) c.1061G>C (p.Arg354Thr) | |
X | g.153869850C>T | CA415130659 | L1CAM | c.1076G>A (p.Arg359Lys) c.1061G>A (p.Arg354Lys) | |
X | g.153869852_153869861del | CA2830782868 | L1CAM | c.1067_1076del (p.Val356GlyfsTer?) c.1052_1061del (p.Val351GlyfsTer?) | |
X | g.153869851T>A | CA415130663 | L1CAM | c.1075A>T (p.Arg359Trp) c.1060A>T (p.Arg354Trp) | COSMIC |
X | g.153869851T>C | CA415130665 | L1CAM | c.1075A>G (p.Arg359Gly) c.1060A>G (p.Arg354Gly) | gnomAD v4 |
X | g.153869851T>G | CA519343940 | L1CAM | c.1075A>C (p.Arg359=) c.1060A>C (p.Arg354=) | |
X | g.153869851dup | CA2842767244 | L1CAM | c.1075dup (p.Arg359LysfsTer?) c.1060dup (p.Arg354LysfsTer?) | |
X | g.153869852G>A | CA519343941 | L1CAM | c.1074C>T (p.Gly358=) c.1059C>T (p.Gly353=) | |
X | g.153869852G>C | CA519343942 | L1CAM | c.1074C>G (p.Gly358=) c.1059C>G (p.Gly353=) | |
X | g.153869852G>T | CA519343943 | L1CAM | c.1074C>A (p.Gly358=) c.1059C>A (p.Gly353=) | ClinVar |
X | g.153869853C>A | CA415130669 | L1CAM | c.1073G>T (p.Gly358Val) c.1058G>T (p.Gly353Val) | |
X | g.153869853C>G | CA415130675 | L1CAM | c.1073G>C (p.Gly358Ala) c.1058G>C (p.Gly353Ala) | |
X | g.153869853C>T | CA415130672 | L1CAM | c.1073G>A (p.Gly358Asp) c.1058G>A (p.Gly353Asp) | |
X | g.153869855dup | CA2842767246 | L1CAM | c.1073dup (p.Arg359GlnfsTer?) c.1058dup (p.Arg354GlnfsTer?) | |
X | g.153869855del | CA2579732967 | L1CAM | c.1073del (p.Gly358AlafsTer?) c.1058del (p.Gly353AlafsTer?) | |
X | g.153869854C>A | CA415130682 | L1CAM | c.1072G>T (p.Gly358Cys) c.1057G>T (p.Gly353Cys) | |
X | g.153869854C>G | CA415130690 | L1CAM | c.1072G>C (p.Gly358Arg) c.1057G>C (p.Gly353Arg) | |
X | g.153869854C>T | CA415130687 | L1CAM | c.1072G>A (p.Gly358Ser) c.1057G>A (p.Gly353Ser) | |
X | g.153869855C>A | CA415130691 | L1CAM | c.1071G>T (p.Gln357His) c.1056G>T (p.Gln352His) | |
X | g.153869855C= | CA2466506936 | L1CAM | c.1071G= (p.Gln357=) c.1056G= (p.Gln352=) | |
X | g.153869855C>G | CA415130693 | L1CAM | c.1071G>C (p.Gln357His) c.1056G>C (p.Gln352His) | |
X | g.153869855C>T | CA519343944 | L1CAM | c.1071G>A (p.Gln357=) c.1056G>A (p.Gln352=) | dbSNP |
X | g.153869856T>A | CA415130696 | L1CAM | c.1070A>T (p.Gln357Leu) c.1055A>T (p.Gln352Leu) | |
X | g.153869856T>C | CA415130698 | L1CAM | c.1070A>G (p.Gln357Arg) c.1055A>G (p.Gln352Arg) | |
X | g.153869856T>G | CA415130699 | L1CAM | c.1070A>C (p.Gln357Pro) c.1055A>C (p.Gln352Pro) | |
X | g.153869857G>A | CA415130704 | L1CAM | c.1069C>T (p.Gln357Ter) c.1054C>T (p.Gln352Ter) | |
X | g.153869857G>C | CA415130707 | L1CAM | c.1069C>G (p.Gln357Glu) c.1054C>G (p.Gln352Glu) | |
X | g.153869857G>T | CA415130715 | L1CAM | c.1069C>A (p.Gln357Lys) c.1054C>A (p.Gln352Lys) | |
X | g.153869858G>A | CA519343945 | L1CAM | c.1068C>T (p.Val356=) c.1053C>T (p.Val351=) | |
X | g.153869858G>C | CA519343946 | L1CAM | c.1068C>G (p.Val356=) c.1053C>G (p.Val351=) | |
X | g.153869858G>T | CA519343947 | L1CAM | c.1068C>A (p.Val356=) c.1053C>A (p.Val351=) | |
X | g.153869859A>C | CA415130725 | L1CAM | c.1067T>G (p.Val356Gly) c.1052T>G (p.Val351Gly) | |
X | g.153869859A>G | CA415130726 | L1CAM | c.1067T>C (p.Val356Ala) c.1052T>C (p.Val351Ala) | gnomAD v4 |
X | g.153869859A>T | CA415130729 | L1CAM | c.1067T>A (p.Val356Asp) c.1052T>A (p.Val351Asp) |