Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108299837_108309100delCA915947621ATMc.*193_*827-1060del
c.5129_5763-1060del
n.1344_1978-1060del
n.533_1167-1060del
c.1085_1719-1060del
c.4964_5598-1060del
c.4085_4719-1060del
c.3821_4455-1060del
c.200_834-1060del
n.5729_6363-1060del
ClinVar
11g.108302847_108302850delCA349708ATMc.*384-6_*384-3del (p.=)
c.5320-6_5320-3del (p.=)
n.1535-6_1535-3del
n.724-6_724-3del
n.549-6_549-3del
c.1276-6_1276-3del (p.=)
c.5155-6_5155-3del (p.=)
c.4276-6_4276-3del (p.=)
c.4012-6_4012-3del (p.=)
c.5319-4_5319-1del (p.=)
c.391-6_391-3del (p.=)
c.*1-6_*1-3del (p.=)
n.5920-6_5920-3del
ClinVar dbSNP gnomAD
11g.108302845_108302853delinsCTTTCTAGTCA1998799561ATMc.*384-8_*384delinsCTTTCTAGT
c.5320-8_5320delinsCTTTCTAGT
n.1535-8_1535delinsCTTTCTAGT
n.724-8_724delinsCTTTCTAGT
n.549-8_549delinsCTTTCTAGT
c.1276-8_1276delinsCTTTCTAGT
c.5155-8_5155delinsCTTTCTAGT
c.4276-8_4276delinsCTTTCTAGT
c.4012-8_4012delinsCTTTCTAGT
c.5319-6_5321delinsCTTTCTAGT
c.391-8_391delinsCTTTCTAGT
c.*1-8_*1delinsCTTTCTAGT
n.5920-8_5920delinsCTTTCTAGT
11g.108302849_108302856delCA16041416ATMc.*384-4_*387del
c.5320-4_5323del
n.1535-4_1538del
n.724-4_727del
n.549-4_552del
c.1276-4_1279del
c.5155-4_5158del
c.4276-4_4279del
c.4012-4_4015del
c.5319-2_5324del
c.391-4_394del
c.*1-4_*4del
n.5920-4_5923del
ClinVar dbSNP
11g.108302847_108302851delinsTTCTACA1998799575ATMc.*384-6_*384-2delinsTTCTA (p.=)
c.5320-6_5320-2delinsTTCTA (p.=)
n.1535-6_1535-2delinsTTCTA
n.724-6_724-2delinsTTCTA
n.549-6_549-2delinsTTCTA
c.1276-6_1276-2delinsTTCTA (p.=)
c.5155-6_5155-2delinsTTCTA (p.=)
c.4276-6_4276-2delinsTTCTA (p.=)
c.4012-6_4012-2delinsTTCTA (p.=)
c.5319-4_5319delinsTTCTA
c.391-6_391-2delinsTTCTA (p.=)
c.*1-6_*1-2delinsTTCTA (p.=)
n.5920-6_5920-2delinsTTCTA
11g.108302848_108302851delCA298027ATMc.*384-5_*384-2del (p.=)
c.5320-5_5320-2del (p.=)
n.1535-5_1535-2del
n.724-5_724-2del
n.549-5_549-2del
c.1276-5_1276-2del (p.=)
c.5155-5_5155-2del (p.=)
c.4276-5_4276-2del (p.=)
c.4012-5_4012-2del (p.=)
c.5319-3_5319del
c.391-5_391-2del (p.=)
c.*1-5_*1-2del (p.=)
n.5920-5_5920-2del
ClinVar dbSNP
11g.108302849C=CA1998799584ATMc.*384-4C= (p.=)
c.5320-4C= (p.=)
n.1535-4C=
n.724-4C=
n.549-4C=
c.1276-4C= (p.=)
c.5155-4C= (p.=)
c.4276-4C= (p.=)
c.4012-4C= (p.=)
c.5319-2C= (p.=)
c.391-4C= (p.=)
c.*1-4C= (p.=)
n.5920-4C=
11g.108302849C>GCA602132836ATMc.*384-4C>G (p.=)
c.5320-4C>G (p.=)
n.1535-4C>G
n.724-4C>G
n.549-4C>G
c.1276-4C>G (p.=)
c.5155-4C>G (p.=)
c.4276-4C>G (p.=)
c.4012-4C>G (p.=)
c.5319-2C>G (p.=)
c.391-4C>G (p.=)
c.*1-4C>G (p.=)
n.5920-4C>G
ClinVar gnomAD
11g.108302850T>CCA602132837ATMc.*384-3T>C (p.=)
c.5320-3T>C (p.=)
n.1535-3T>C
n.724-3T>C
n.549-3T>C
c.1276-3T>C (p.=)
c.5155-3T>C (p.=)
c.4276-3T>C (p.=)
c.4012-3T>C (p.=)
c.5319-1T>C (p.=)
c.391-3T>C (p.=)
c.*1-3T>C (p.=)
n.5920-3T>C
ClinVar gnomAD
11g.108302850T=CA1998799588ATMc.*384-3T= (p.=)
c.5320-3T= (p.=)
n.1535-3T=
n.724-3T=
n.549-3T=
c.1276-3T= (p.=)
c.5155-3T= (p.=)
c.4276-3T= (p.=)
c.4012-3T= (p.=)
c.5319-1T= (p.=)
c.391-3T= (p.=)
c.*1-3T= (p.=)
n.5920-3T=
11g.108302851A=CA1998799590ATMc.*384-2A= (p.=)
c.5320-2A= (p.=)
n.1535-2A=
n.724-2A=
n.549-2A=
c.1276-2A= (p.=)
c.5155-2A= (p.=)
c.4276-2A= (p.=)
c.4012-2A= (p.=)
c.5319A= (p.Lys1773=)
c.391-2A= (p.=)
c.*1-2A= (p.=)
n.5920-2A=
11g.108302851A>CCA382542972ATMc.*384-2A>C (p.=)
c.5320-2A>C (p.=)
n.1535-2A>C
n.724-2A>C
n.549-2A>C
c.1276-2A>C (p.=)
c.5155-2A>C (p.=)
c.4276-2A>C (p.=)
c.4012-2A>C (p.=)
c.5319A>C (p.Lys1773Asn)
c.391-2A>C (p.=)
c.*1-2A>C (p.=)
n.5920-2A>C
gnomAD
11g.108302851A>GCA382542975ATMc.*384-2A>G (p.=)
c.5320-2A>G (p.=)
n.1535-2A>G
n.724-2A>G
n.549-2A>G
c.1276-2A>G (p.=)
c.5155-2A>G (p.=)
c.4276-2A>G (p.=)
c.4012-2A>G (p.=)
c.5319A>G (p.Lys1773=)
c.391-2A>G (p.=)
c.*1-2A>G (p.=)
n.5920-2A>G
11g.108302851A>TCA382542978ATMc.*384-2A>T (p.=)
c.5320-2A>T (p.=)
n.1535-2A>T
n.724-2A>T
n.549-2A>T
c.1276-2A>T (p.=)
c.5155-2A>T (p.=)
c.4276-2A>T (p.=)
c.4012-2A>T (p.=)
c.5319A>T (p.Lys1773Asn)
c.391-2A>T (p.=)
c.*1-2A>T (p.=)
n.5920-2A>T
COSMIC
11g.108302852G>ACA382542985ATMc.*384-1G>A (p.=)
c.5320-1G>A (p.=)
n.1535-1G>A
n.724-1G>A
n.549-1G>A
c.1276-1G>A (p.=)
c.5155-1G>A (p.=)
c.4276-1G>A (p.=)
c.4012-1G>A (p.=)
c.5320G>A (p.Val1774Ile)
c.391-1G>A (p.=)
c.*1-1G>A (p.=)
n.5920-1G>A
COSMIC COSMIC
11g.108302852G>CCA382542988ATMc.*384-1G>C (p.=)
c.5320-1G>C (p.=)
n.1535-1G>C
n.724-1G>C
n.549-1G>C
c.1276-1G>C (p.=)
c.5155-1G>C (p.=)
c.4276-1G>C (p.=)
c.4012-1G>C (p.=)
c.5320G>C (p.Val1774Leu)
c.391-1G>C (p.=)
c.*1-1G>C (p.=)
n.5920-1G>C
11g.108302852G>TCA382542994ATMc.*384-1G>T (p.=)
c.5320-1G>T (p.=)
n.1535-1G>T
n.724-1G>T
n.549-1G>T
c.1276-1G>T (p.=)
c.5155-1G>T (p.=)
c.4276-1G>T (p.=)
c.4012-1G>T (p.=)
c.5320G>T (p.Val1774Phe)
c.391-1G>T (p.=)
c.*1-1G>T (p.=)
n.5920-1G>T
11g.108302852_108302853delinsGTCA1998799593ATMc.*384-1_*384delinsGT
c.5320-1_5320delinsGT
n.1535-1_1535delinsGT
n.724-1_724delinsGT
n.549-1_549delinsGT
c.1276-1_1276delinsGT
c.5155-1_5155delinsGT
c.4276-1_4276delinsGT
c.4012-1_4012delinsGT
c.5320_5321delinsGT (p.Val1774=)
c.391-1_391delinsGT
c.*1-1_*1delinsGT
n.5920-1_5920delinsGT
11g.108302853T>ACA382542995ATMc.*384T>A (p.=)
c.5320T>A (p.Phe1774Ile)
n.1535T>A
n.724T>A
n.549T>A
c.1276T>A (p.Phe426Ile)
c.5155T>A (p.Phe1719Ile)
c.4276T>A (p.Phe1426Ile)
c.4012T>A (p.Phe1338Ile)
c.5321T>A (p.Val1774Asp)
c.391T>A (p.Phe131Ile)
c.*1T>A
n.5920T>A
11g.108302853T>CCA382542997ATMc.*384T>C (p.=)
c.5320T>C (p.Phe1774Leu)
n.1535T>C
n.724T>C
n.549T>C
c.1276T>C (p.Phe426Leu)
c.5155T>C (p.Phe1719Leu)
c.4276T>C (p.Phe1426Leu)
c.4012T>C (p.Phe1338Leu)
c.5321T>C (p.Val1774Ala)
c.391T>C (p.Phe131Leu)
c.*1T>C
n.5920T>C
11g.108302853T>GCA382542999ATMc.*384T>G (p.=)
c.5320T>G (p.Phe1774Val)
n.1535T>G
n.724T>G
n.549T>G
c.1276T>G (p.Phe426Val)
c.5155T>G (p.Phe1719Val)
c.4276T>G (p.Phe1426Val)
c.4012T>G (p.Phe1338Val)
c.5321T>G (p.Val1774Gly)
c.391T>G (p.Phe131Val)
c.*1T>G
n.5920T>G
11g.108302857delCA916080498ATMc.*388del (p.=)
c.5324del (p.Leu1775Ter)
n.1539del
n.728del
n.553del
c.1280del (p.Leu427Ter)
c.5159del (p.Leu1720Ter)
c.4280del (p.Leu1427Ter)
c.4016del (p.Leu1339Ter)
c.5325del (p.Phe1775LeufsTer?)
c.395del (p.Leu132Ter)
c.*5del (p.=)
n.5924del
ClinVar dbSNP
11g.108302854T>ACA382543003ATMc.*385T>A (p.=)
c.5321T>A (p.Phe1774Tyr)
n.1536T>A
n.725T>A
n.550T>A
c.1277T>A (p.Phe426Tyr)
c.5156T>A (p.Phe1719Tyr)
c.4277T>A (p.Phe1426Tyr)
c.4013T>A (p.Phe1338Tyr)
c.5322T>A (p.Val1774=)
c.392T>A (p.Phe131Tyr)
c.*2T>A
n.5921T>A
11g.108302854T>CCA382543001ATMc.*385T>C (p.=)
c.5321T>C (p.Phe1774Ser)
n.1536T>C
n.725T>C
n.550T>C
c.1277T>C (p.Phe426Ser)
c.5156T>C (p.Phe1719Ser)
c.4277T>C (p.Phe1426Ser)
c.4013T>C (p.Phe1338Ser)
c.5322T>C (p.Val1774=)
c.392T>C (p.Phe131Ser)
c.*2T>C
n.5921T>C
11g.108302854T>GCA382543002ATMc.*385T>G (p.=)
c.5321T>G (p.Phe1774Cys)
n.1536T>G
n.725T>G
n.550T>G
c.1277T>G (p.Phe426Cys)
c.5156T>G (p.Phe1719Cys)
c.4277T>G (p.Phe1426Cys)
c.4013T>G (p.Phe1338Cys)
c.5322T>G (p.Val1774=)
c.392T>G (p.Phe131Cys)
c.*2T>G
n.5921T>G
11g.108302855T>ACA382543004ATMc.*386T>A (p.=)
c.5322T>A (p.Phe1774Leu)
n.1537T>A
n.726T>A
n.551T>A
c.1278T>A (p.Phe426Leu)
c.5157T>A (p.Phe1719Leu)
c.4278T>A (p.Phe1426Leu)
c.4014T>A (p.Phe1338Leu)
c.5323T>A (p.Phe1775Ile)
c.393T>A (p.Phe131Leu)
c.*3T>A
n.5922T>A
11g.108302855T>CCA476674858ATMc.*386T>C (p.=)
c.5322T>C (p.Phe1774=)
n.1537T>C
n.726T>C
n.551T>C
c.1278T>C (p.Phe426=)
c.5157T>C (p.Phe1719=)
c.4278T>C (p.Phe1426=)
c.4014T>C (p.Phe1338=)
c.5323T>C (p.Phe1775Leu)
c.393T>C (p.Phe131=)
c.*3T>C
n.5922T>C
11g.108302855T>GCA382543007ATMc.*386T>G (p.=)
c.5322T>G (p.Phe1774Leu)
n.1537T>G
n.726T>G
n.551T>G
c.1278T>G (p.Phe426Leu)
c.5157T>G (p.Phe1719Leu)
c.4278T>G (p.Phe1426Leu)
c.4014T>G (p.Phe1338Leu)
c.5323T>G (p.Phe1775Val)
c.393T>G (p.Phe131Leu)
c.*3T>G
n.5922T>G
11g.108302856T>ACA382543010ATMc.*387T>A (p.=)
c.5323T>A (p.Leu1775Ile)
n.1538T>A
n.727T>A
n.552T>A
c.1279T>A (p.Leu427Ile)
c.5158T>A (p.Leu1720Ile)
c.4279T>A (p.Leu1427Ile)
c.4015T>A (p.Leu1339Ile)
c.5324T>A (p.Phe1775Tyr)
c.394T>A (p.Leu132Ile)
c.*4T>A (p.=)
n.5923T>A
11g.108302856T>CCA476674860ATMc.*387T>C (p.=)
c.5323T>C (p.Leu1775=)
n.1538T>C
n.727T>C
n.552T>C
c.1279T>C (p.Leu427=)
c.5158T>C (p.Leu1720=)
c.4279T>C (p.Leu1427=)
c.4015T>C (p.Leu1339=)
c.5324T>C (p.Phe1775Ser)
c.394T>C (p.Leu132=)
c.*4T>C (p.=)
n.5923T>C
11g.108302856T>GCA228388283ATMc.*387T>G (p.=)
c.5323T>G (p.Leu1775Val)
n.1538T>G
n.727T>G
n.552T>G
c.1279T>G (p.Leu427Val)
c.5158T>G (p.Leu1720Val)
c.4279T>G (p.Leu1427Val)
c.4015T>G (p.Leu1339Val)
c.5324T>G (p.Phe1775Cys)
c.394T>G (p.Leu132Val)
c.*4T>G (p.=)
n.5923T>G
ClinVar dbSNP
11g.108302856T=CA1998799604ATMc.*387T= (p.=)
c.5323T= (p.Leu1775=)
n.1538T=
n.727T=
n.552T=
c.1279T= (p.Leu427=)
c.5158T= (p.Leu1720=)
c.4279T= (p.Leu1427=)
c.4015T= (p.Leu1339=)
c.5324T= (p.Phe1775=)
c.394T= (p.Leu132=)
c.*4T= (p.=)
n.5923T=
11g.108302857T>ACA382543017ATMc.*388T>A (p.=)
c.5324T>A (p.Leu1775Ter)
n.1539T>A
n.728T>A
n.553T>A
c.1280T>A (p.Leu427Ter)
c.5159T>A (p.Leu1720Ter)
c.4280T>A (p.Leu1427Ter)
c.4016T>A (p.Leu1339Ter)
c.5325T>A (p.Phe1775Leu)
c.395T>A (p.Leu132Ter)
c.*5T>A (p.=)
n.5924T>A
11g.108302857T>CCA382543019ATMc.*388T>C (p.=)
c.5324T>C (p.Leu1775Ser)
n.1539T>C
n.728T>C
n.553T>C
c.1280T>C (p.Leu427Ser)
c.5159T>C (p.Leu1720Ser)
c.4280T>C (p.Leu1427Ser)
c.4016T>C (p.Leu1339Ser)
c.5325T>C (p.Phe1775=)
c.395T>C (p.Leu132Ser)
c.*5T>C (p.=)
n.5924T>C
ClinVar
11g.108302857T>GCA382543021ATMc.*388T>G (p.=)
c.5324T>G (p.Leu1775Ter)
n.1539T>G
n.728T>G
n.553T>G
c.1280T>G (p.Leu427Ter)
c.5159T>G (p.Leu1720Ter)
c.4280T>G (p.Leu1427Ter)
c.4016T>G (p.Leu1339Ter)
c.5325T>G (p.Phe1775Leu)
c.395T>G (p.Leu132Ter)
c.*5T>G (p.=)
n.5924T>G
11g.108302857T=CA1998799610ATMc.*388T= (p.=)
c.5324T= (p.Leu1775=)
n.1539T=
n.728T=
n.553T=
c.1280T= (p.Leu427=)
c.5159T= (p.Leu1720=)
c.4280T= (p.Leu1427=)
c.4016T= (p.Leu1339=)
c.5325T= (p.Phe1775=)
c.395T= (p.Leu132=)
c.*5T= (p.=)
n.5924T=
11g.108302858A=CA1998799624ATMc.*389A= (p.=)
c.5325A= (p.Leu1775=)
n.1540A=
n.729A=
n.554A=
c.1281A= (p.Leu427=)
c.5160A= (p.Leu1720=)
c.4281A= (p.Leu1427=)
c.4017A= (p.Leu1339=)
c.5326A= (p.Arg1776=)
c.396A= (p.Leu132=)
c.*6A= (p.=)
n.5925A=
11g.108302858A>CCA382543023ATMc.*389A>C (p.=)
c.5325A>C (p.Leu1775Phe)
n.1540A>C
n.729A>C
n.554A>C
c.1281A>C (p.Leu427Phe)
c.5160A>C (p.Leu1720Phe)
c.4281A>C (p.Leu1427Phe)
c.4017A>C (p.Leu1339Phe)
c.5326A>C (p.Arg1776=)
c.396A>C (p.Leu132Phe)
c.*6A>C (p.=)
n.5925A>C
ClinVar
11g.108302858A>GCA476674862ATMc.*389A>G (p.=)
c.5325A>G (p.Leu1775=)
n.1540A>G
n.729A>G
n.554A>G
c.1281A>G (p.Leu427=)
c.5160A>G (p.Leu1720=)
c.4281A>G (p.Leu1427=)
c.4017A>G (p.Leu1339=)
c.5326A>G (p.Arg1776Gly)
c.396A>G (p.Leu132=)
c.*6A>G (p.=)
n.5925A>G
11g.108302858A>TCA382543026ATMc.*389A>T (p.=)
c.5325A>T (p.Leu1775Phe)
n.1540A>T
n.729A>T
n.554A>T
c.1281A>T (p.Leu427Phe)
c.5160A>T (p.Leu1720Phe)
c.4281A>T (p.Leu1427Phe)
c.4017A>T (p.Leu1339Phe)
c.5326A>T (p.Arg1776Ter)
c.396A>T (p.Leu132Phe)
c.*6A>T (p.=)
n.5925A>T
11g.108302859_108302860delCA645569733ATMc.*390_*391del (p.=)
c.5326_5327del (p.Glu1776SerfsTer5)
n.1541_1542del
n.730_731del
n.555_556del
c.1282_1283del (p.Glu428SerfsTer5)
c.5161_5162del (p.Glu1721SerfsTer5)
c.4282_4283del (p.Glu1428SerfsTer5)
c.4018_4019del (p.Glu1340SerfsTer5)
c.5327_5328del (p.Arg1776LysfsTer17)
c.397_398del (p.Glu133SerfsTer5)
c.*7_*8del (p.=)
n.5926_5927del
COSMIC COSMIC
11g.108302862_108302882dupCA286888ATMc.*393_*413dup (p.=)
c.5329_5349dup (p.Glu1783_Asn1784insValProArgPheAspLysGlu)
n.1544_1564dup
n.733_753dup
n.558_578dup
c.1285_1305dup (p.Glu435_Asn436insValProArgPheAspLysGlu)
c.5164_5184dup (p.Glu1728_Asn1729insValProArgPheAspLysGlu)
c.4285_4305dup (p.Glu1435_Asn1436insValProArgPheAspLysGlu)
c.4021_4041dup (p.Glu1347_Asn1348insValProArgPheAspLysGlu)
c.5330_*7dup (p.=)
c.400_420dup (p.Glu140_Asn141insValProArgPheAspLysGlu)
c.*10_*30dup (p.=)
n.5929_5949dup
ClinVar dbSNP
11g.108302859G>ACA382543034ATMc.*390G>A (p.=)
c.5326G>A (p.Glu1776Lys)
n.1541G>A
n.730G>A
n.555G>A
c.1282G>A (p.Glu428Lys)
c.5161G>A (p.Glu1721Lys)
c.4282G>A (p.Glu1428Lys)
c.4018G>A (p.Glu1340Lys)
c.5327G>A (p.Arg1776Lys)
c.397G>A (p.Glu133Lys)
c.*7G>A (p.=)
n.5926G>A
ClinVar
11g.108302859G>CCA382543037ATMc.*390G>C (p.=)
c.5326G>C (p.Glu1776Gln)
n.1541G>C
n.730G>C
n.555G>C
c.1282G>C (p.Glu428Gln)
c.5161G>C (p.Glu1721Gln)
c.4282G>C (p.Glu1428Gln)
c.4018G>C (p.Glu1340Gln)
c.5327G>C (p.Arg1776Thr)
c.397G>C (p.Glu133Gln)
c.*7G>C (p.=)
n.5926G>C
11g.108302859G=CA1998799632ATMc.*390G= (p.=)
c.5326G= (p.Glu1776=)
n.1541G=
n.730G=
n.555G=
c.1282G= (p.Glu428=)
c.5161G= (p.Glu1721=)
c.4282G= (p.Glu1428=)
c.4018G= (p.Glu1340=)
c.5327G= (p.Arg1776=)
c.397G= (p.Glu133=)
c.*7G= (p.=)
n.5926G=
11g.108302859G>TCA382543040ATMc.*390G>T (p.=)
c.5326G>T (p.Glu1776Ter)
n.1541G>T
n.730G>T
n.555G>T
c.1282G>T (p.Glu428Ter)
c.5161G>T (p.Glu1721Ter)
c.4282G>T (p.Glu1428Ter)
c.4018G>T (p.Glu1340Ter)
c.5327G>T (p.Arg1776Ile)
c.397G>T (p.Glu133Ter)
c.*7G>T (p.=)
n.5926G>T
ClinVar
11g.108302860A=CA1998799639ATMc.*391A= (p.=)
c.5327A= (p.Glu1776=)
n.1542A=
n.731A=
n.556A=
c.1283A= (p.Glu428=)
c.5162A= (p.Glu1721=)
c.4283A= (p.Glu1428=)
c.4019A= (p.Glu1340=)
c.5328A= (p.Arg1776=)
c.398A= (p.Glu133=)
c.*8A= (p.=)
n.5927A=
11g.108302860A>CCA382543044ATMc.*391A>C (p.=)
c.5327A>C (p.Glu1776Ala)
n.1542A>C
n.731A>C
n.556A>C
c.1283A>C (p.Glu428Ala)
c.5162A>C (p.Glu1721Ala)
c.4283A>C (p.Glu1428Ala)
c.4019A>C (p.Glu1340Ala)
c.5328A>C (p.Arg1776Ser)
c.398A>C (p.Glu133Ala)
c.*8A>C (p.=)
n.5927A>C
11g.108302860A>GCA382543048ATMc.*391A>G (p.=)
c.5327A>G (p.Glu1776Gly)
n.1542A>G
n.731A>G
n.556A>G
c.1283A>G (p.Glu428Gly)
c.5162A>G (p.Glu1721Gly)
c.4283A>G (p.Glu1428Gly)
c.4019A>G (p.Glu1340Gly)
c.5328A>G (p.Arg1776=)
c.398A>G (p.Glu133Gly)
c.*8A>G (p.=)
n.5927A>G
11g.108302860A>TCA382543051ATMc.*391A>T (p.=)
c.5327A>T (p.Glu1776Val)
n.1542A>T
n.731A>T
n.556A>T
c.1283A>T (p.Glu428Val)
c.5162A>T (p.Glu1721Val)
c.4283A>T (p.Glu1428Val)
c.4019A>T (p.Glu1340Val)
c.5328A>T (p.Arg1776Ser)
c.398A>T (p.Glu133Val)
c.*8A>T (p.=)
n.5927A>T
ClinVar

Number of alleles fetched