Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111410074_111410766delCA2580612296DCXc.-23+134_326del
c.-22-345_326del
c.-34_326del
c.210_569del
c.185_544del
n.219-345_566del
ClinVar
Xg.111410303_111410316delCA2695235808DCXc.87_100del (p.Thr30LeufsTer2)
c.330_343del (p.Thr111LeufsTer2)
c.305_318del
n.327_340del
Xg.111410303G>ACA10493342DCXc.96C>T (p.Ser32=)
c.339C>T (p.Ser113=)
c.314C>T
n.336C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111410303G>CCA414247126DCXc.96C>G (p.Ser32Arg)
c.339C>G (p.Ser113Arg)
c.314C>G
n.336C>G
Xg.111410303G=CA2451700434DCXc.96C= (p.Ser32=)
c.339C= (p.Ser113=)
c.314C=
n.336C=
Xg.111410303G>TCA414247125DCXc.96C>A (p.Ser32Arg)
c.339C>A (p.Ser113Arg)
c.314C>A
n.336C>A
Xg.111410304C>ACA414247127DCXc.95G>T (p.Ser32Ile)
c.338G>T (p.Ser113Ile)
c.313G>T
n.335G>T
Xg.111410304C=CA2451700435DCXc.95G= (p.Ser32=)
c.338G= (p.Ser113=)
c.313G=
n.335G=
Xg.111410304C>GCA414247128DCXc.95G>C (p.Ser32Thr)
c.338G>C (p.Ser113Thr)
c.313G>C
n.335G>C
Xg.111410304C>TCA172089DCXc.95G>A (p.Ser32Asn)
c.338G>A (p.Ser113Asn)
c.313G>A
n.335G>A
ClinVar dbSNP
Xg.111410305T>ACA414247129DCXc.94A>T (p.Ser32Cys)
c.337A>T (p.Ser113Cys)
c.312A>T
n.334A>T
Xg.111410305T>CCA414247130DCXc.94A>G (p.Ser32Gly)
c.337A>G (p.Ser113Gly)
c.312A>G
n.334A>G
Xg.111410305T>GCA414247131DCXc.94A>C (p.Ser32Arg)
c.337A>C (p.Ser113Arg)
c.312A>C
n.334A>C
Xg.111410306G>ACA518114738DCXc.93C>T (p.His31=)
c.336C>T (p.His112=)
c.311C>T
n.333C>T
Xg.111410306G>CCA414247132DCXc.93C>G (p.His31Gln)
c.336C>G (p.His112Gln)
c.311C>G
n.333C>G
Xg.111410306G>TCA414247133DCXc.93C>A (p.His31Gln)
c.336C>A (p.His112Gln)
c.311C>A
n.333C>A
Xg.111410307T>ACA414247134DCXc.92A>T (p.His31Leu)
c.335A>T (p.His112Leu)
c.310A>T
n.332A>T
Xg.111410307T>CCA414247135DCXc.92A>G (p.His31Arg)
c.335A>G (p.His112Arg)
c.310A>G
n.332A>G
gnomAD v4
Xg.111410307T>GCA414247136DCXc.92A>C (p.His31Pro)
c.335A>C (p.His112Pro)
c.310A>C
n.332A>C
Xg.111410307dupCA2695235809DCXc.92dup (p.His31GlnfsTer6)
c.335dup (p.His112GlnfsTer6)
c.310dup
n.332dup
Xg.111410308G>ACA414247137DCXc.91C>T (p.His31Tyr)
c.334C>T (p.His112Tyr)
c.309C>T
n.331C>T
Xg.111410308G>CCA414247139DCXc.91C>G (p.His31Asp)
c.334C>G (p.His112Asp)
c.309C>G
n.331C>G
Xg.111410308G>TCA414247138DCXc.91C>A (p.His31Asn)
c.334C>A (p.His112Asn)
c.309C>A
n.331C>A
Xg.111410309A>CCA518114743DCXc.90T>G (p.Thr30=)
c.333T>G (p.Thr111=)
c.308T>G
n.330T>G
Xg.111410309A>GCA518114741DCXc.90T>C (p.Thr30=)
c.333T>C (p.Thr111=)
c.308T>C
n.330T>C
Xg.111410309A>TCA518114742DCXc.90T>A (p.Thr30=)
c.333T>A (p.Thr111=)
c.308T>A
n.330T>A
Xg.111410310G>ACA414247140DCXc.89C>T (p.Thr30Ile)
c.332C>T (p.Thr111Ile)
c.307C>T
n.329C>T
Xg.111410310G>CCA414247142DCXc.89C>G (p.Thr30Ser)
c.332C>G (p.Thr111Ser)
c.307C>G
n.329C>G
gnomAD v4
Xg.111410310G>TCA414247141DCXc.89C>A (p.Thr30Asn)
c.332C>A (p.Thr111Asn)
c.307C>A
n.329C>A
COSMIC
Xg.111410311T>ACA414247143DCXc.88A>T (p.Thr30Ser)
c.331A>T (p.Thr111Ser)
c.306A>T
n.328A>T
Xg.111410311T>CCA414247144DCXc.88A>G (p.Thr30Ala)
c.331A>G (p.Thr111Ala)
c.306A>G
n.328A>G
dbSNP
Xg.111410311T>GCA414247145DCXc.88A>C (p.Thr30Pro)
c.331A>C (p.Thr111Pro)
c.306A>C
n.328A>C
Xg.111410312G>ACA334420947DCXc.87C>T (p.Pro29=)
c.330C>T (p.Pro110=)
c.305C>T
n.327C>T
dbSNP gnomAD v4
Xg.111410312G>CCA518114746DCXc.87C>G (p.Pro29=)
c.330C>G (p.Pro110=)
c.305C>G
n.327C>G
Xg.111410312G=CA2451700436DCXc.87C= (p.Pro29=)
c.330C= (p.Pro110=)
c.305C=
n.327C=
Xg.111410312G>TCA518114748DCXc.87C>A (p.Pro29=)
c.330C>A (p.Pro110=)
c.305C>A
n.327C>A
Xg.111410313G>ACA414247146DCXc.86C>T (p.Pro29Leu)
c.329C>T (p.Pro110Leu)
c.304C>T
n.326C>T
Xg.111410313G>CCA414247147DCXc.86C>G (p.Pro29Arg)
c.329C>G (p.Pro110Arg)
c.304C>G
n.326C>G
Xg.111410313G=CA2451700437DCXc.86C= (p.Pro29=)
c.329C= (p.Pro110=)
c.304C=
n.326C=
Xg.111410313G>TCA414247148DCXc.86C>A (p.Pro29His)
c.329C>A (p.Pro110His)
c.304C>A
n.326C>A
Xg.111410314G>ACA414247149DCXc.85C>T (p.Pro29Ser)
c.328C>T (p.Pro110Ser)
c.303C>T
n.325C>T
Xg.111410314G>CCA414247150DCXc.85C>G (p.Pro29Ala)
c.328C>G (p.Pro110Ala)
c.303C>G
n.325C>G
Xg.111410314G>TCA414247151DCXc.85C>A (p.Pro29Thr)
c.328C>A (p.Pro110Thr)
c.303C>A
n.325C>A
Xg.111410317_111410321dupCA207586DCXc.81_85dup (p.Pro29LeufsTer20)
c.324_328dup (p.Pro110LeufsTer20)
c.299_303dup
n.321_325dup
ClinVar dbSNP
Xg.111410315G>ACA10493343DCXc.84C>T (p.Ser28=)
c.327C>T (p.Ser109=)
c.302C>T
n.324C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410315G>CCA414247152DCXc.84C>G (p.Ser28Arg)
c.327C>G (p.Ser109Arg)
c.302C>G
n.324C>G
Xg.111410315G=CA2451700438DCXc.84C= (p.Ser28=)
c.327C= (p.Ser109=)
c.302C=
n.324C=
Xg.111410315G>TCA414247153DCXc.84C>A (p.Ser28Arg)
c.327C>A (p.Ser109Arg)
c.302C>A
n.324C>A
Xg.111410316C>ACA414247154DCXc.83G>T (p.Ser28Ile)
c.326G>T (p.Ser109Ile)
c.301G>T
n.323G>T
Xg.111410316C>GCA414247155DCXc.83G>C (p.Ser28Thr)
c.326G>C (p.Ser109Thr)
c.301G>C
n.323G>C
Xg.111410316C>TCA414247156DCXc.83G>A (p.Ser28Asn)
c.326G>A (p.Ser109Asn)
c.301G>A
n.323G>A
Xg.111410317T>ACA414247157DCXc.82A>T (p.Ser28Cys)
c.325A>T (p.Ser109Cys)
c.300A>T
n.322A>T
Xg.111410317T>CCA414247158DCXc.82A>G (p.Ser28Gly)
c.325A>G (p.Ser109Gly)
c.300A>G
n.322A>G
gnomAD v4
Xg.111410317T>GCA414247159DCXc.82A>C (p.Ser28Arg)
c.325A>C (p.Ser109Arg)
c.300A>C
n.322A>C
Xg.111410318A>CCA518114760DCXc.81T>G (p.Pro27=)
c.324T>G (p.Pro108=)
c.299T>G
n.321T>G
ClinVar
Xg.111410318A>GCA518114761DCXc.81T>C (p.Pro27=)
c.324T>C (p.Pro108=)
c.299T>C
n.321T>C
Xg.111410318A>TCA518114762DCXc.81T>A (p.Pro27=)
c.324T>A (p.Pro108=)
c.299T>A
n.321T>A
Xg.111410319G>ACA334420948DCXc.80C>T (p.Pro27Leu)
c.323C>T (p.Pro108Leu)
c.298C>T
n.320C>T
dbSNP gnomAD v3 gnomAD v4
Xg.111410319G>CCA414247160DCXc.80C>G (p.Pro27Arg)
c.323C>G (p.Pro108Arg)
c.298C>G
n.320C>G
dbSNP
Xg.111410319G=CA2451700439DCXc.80C= (p.Pro27=)
c.323C= (p.Pro108=)
c.298C=
n.320C=
Xg.111410319G>TCA414247161DCXc.80C>A (p.Pro27His)
c.323C>A (p.Pro108His)
c.298C>A
n.320C>A
Xg.111410320G>ACA414247162DCXc.79C>T (p.Pro27Ser)
c.322C>T (p.Pro108Ser)
c.297C>T
n.319C>T
Xg.111410320G>CCA414247163DCXc.79C>G (p.Pro27Ala)
c.322C>G (p.Pro108Ala)
c.297C>G
n.319C>G
Xg.111410320G>TCA414247164DCXc.79C>A (p.Pro27Thr)
c.322C>A (p.Pro108Thr)
c.297C>A
n.319C>A
COSMIC COSMIC
Xg.111410321C>ACA414247165DCXc.78G>T (p.Leu26Phe)
c.321G>T (p.Leu107Phe)
c.296G>T
n.318G>T
Xg.111410321C>GCA414247166DCXc.78G>C (p.Leu26Phe)
c.321G>C (p.Leu107Phe)
c.296G>C
n.318G>C
Xg.111410321C>TCA518114765DCXc.78G>A (p.Leu26=)
c.321G>A (p.Leu107=)
c.296G>A
n.318G>A
Xg.111410322A>CCA414247167DCXc.77T>G (p.Leu26Trp)
c.320T>G (p.Leu107Trp)
c.295T>G
n.317T>G
Xg.111410322A>GCA414247168DCXc.77T>C (p.Leu26Ser)
c.320T>C (p.Leu107Ser)
c.295T>C
n.317T>C
Xg.111410322A>TCA414247169DCXc.77T>A (p.Leu26Ter)
c.320T>A (p.Leu107Ter)
c.295T>A
n.317T>A
Xg.111410323A>CCA414247170DCXc.76T>G (p.Leu26Val)
c.319T>G (p.Leu107Val)
c.294T>G
n.316T>G
Xg.111410323A>GCA518114767DCXc.76T>C (p.Leu26=)
c.319T>C (p.Leu107=)
c.294T>C
n.316T>C
Xg.111410323A>TCA414247171DCXc.76T>A (p.Leu26Met)
c.319T>A (p.Leu107Met)
c.294T>A
n.316T>A
Xg.111410324C>ACA518114768DCXc.75G>T (p.Gly25=)
c.318G>T (p.Gly106=)
c.293G>T
n.315G>T
Xg.111410324C>GCA518114769DCXc.75G>C (p.Gly25=)
c.318G>C (p.Gly106=)
c.293G>C
n.315G>C
Xg.111410324C>TCA518114770DCXc.75G>A (p.Gly25=)
c.318G>A (p.Gly106=)
c.293G>A
n.315G>A
Xg.111410325C>ACA414247172DCXc.74G>T (p.Gly25Val)
c.317G>T (p.Gly106Val)
c.292G>T
n.314G>T
Xg.111410325C>GCA414247173DCXc.74G>C (p.Gly25Ala)
c.317G>C (p.Gly106Ala)
c.292G>C
n.314G>C
Xg.111410325C>TCA414247174DCXc.74G>A (p.Gly25Glu)
c.317G>A (p.Gly106Glu)
c.292G>A
n.314G>A
Xg.111410326C>ACA414247175DCXc.73G>T (p.Gly25Trp)
c.316G>T (p.Gly106Trp)
c.291G>T
n.313G>T
Xg.111410326C>GCA414247176DCXc.73G>C (p.Gly25Arg)
c.316G>C (p.Gly106Arg)
c.291G>C
n.313G>C
Xg.111410326C>TCA414247177DCXc.73G>A (p.Gly25Arg)
c.316G>A (p.Gly106Arg)
c.291G>A
n.313G>A
gnomAD v4
Xg.111410326_111410327insTCA2695235810DCXc.72_73insA (p.Gly25ArgfsTer4)
c.315_316insA (p.Gly106ArgfsTer4)
c.290_291insA
n.312_313insA
Xg.111410327A>CCA414247178DCXc.72T>G (p.Asn24Lys)
c.315T>G (p.Asn105Lys)
c.290T>G
n.312T>G
Xg.111410327A>GCA518114773DCXc.72T>C (p.Asn24=)
c.315T>C (p.Asn105=)
c.290T>C
n.312T>C
Xg.111410327A>TCA414247179DCXc.72T>A (p.Asn24Lys)
c.315T>A (p.Asn105Lys)
c.290T>A
n.312T>A
Xg.111410328T>ACA414247182DCXc.71A>T (p.Asn24Ile)
c.314A>T (p.Asn105Ile)
c.289A>T
n.311A>T
Xg.111410328T>CCA414247180DCXc.71A>G (p.Asn24Ser)
c.314A>G (p.Asn105Ser)
c.289A>G
n.311A>G
Xg.111410328T>GCA414247181DCXc.71A>C (p.Asn24Thr)
c.314A>C (p.Asn105Thr)
c.289A>C
n.311A>C
Xg.111410329T>ACA414247183DCXc.70A>T (p.Asn24Tyr)
c.313A>T (p.Asn105Tyr)
c.288A>T
n.310A>T
Xg.111410329T>CCA414247184DCXc.70A>G (p.Asn24Asp)
c.313A>G (p.Asn105Asp)
c.288A>G
n.310A>G
Xg.111410329T>GCA414247185DCXc.70A>C (p.Asn24His)
c.313A>C (p.Asn105His)
c.288A>C
n.310A>C
Xg.111410330C>ACA414247186DCXc.69G>T (p.Met23Ile)
c.312G>T (p.Met104Ile)
c.287G>T
n.309G>T
Xg.111410330C>GCA414247187DCXc.69G>C (p.Met23Ile)
c.312G>C (p.Met104Ile)
c.287G>C
n.309G>C
Xg.111410330C>TCA414247188DCXc.69G>A (p.Met23Ile)
c.312G>A (p.Met104Ile)
c.287G>A
n.309G>A
COSMIC COSMIC
Xg.111410331A>CCA414247189DCXc.68T>G (p.Met23Arg)
c.311T>G (p.Met104Arg)
c.286T>G
n.308T>G
Xg.111410331A>GCA414247190DCXc.68T>C (p.Met23Thr)
c.311T>C (p.Met104Thr)
c.286T>C
n.308T>C
Xg.111410331A>TCA414247191DCXc.68T>A (p.Met23Lys)
c.311T>A (p.Met104Lys)
c.286T>A
n.308T>A
Xg.111410332T>ACA414247192DCXc.67A>T (p.Met23Leu)
c.310A>T (p.Met104Leu)
c.285A>T
n.307A>T
Xg.111410332T>CCA414247193DCXc.67A>G (p.Met23Val)
c.310A>G (p.Met104Val)
c.285A>G
n.307A>G
Xg.111410332T>GCA414247194DCXc.67A>C (p.Met23Leu)
c.310A>C (p.Met104Leu)
c.285A>C
n.307A>C
Xg.111410333C>ACA518114778DCXc.66G>T (p.Arg22=)
c.309G>T (p.Arg103=)
c.284G>T
n.306G>T
Xg.111410333C>GCA518114779DCXc.66G>C (p.Arg22=)
c.309G>C (p.Arg103=)
c.284G>C
n.306G>C
Xg.111410333C>TCA518114780DCXc.66G>A (p.Arg22=)
c.309G>A (p.Arg103=)
c.284G>A
n.306G>A
Xg.111410334C>ACA414247196DCXc.65G>T (p.Arg22Leu)
c.308G>T (p.Arg103Leu)
c.283G>T
n.305G>T
Xg.111410334C=CA2451700440DCXc.65G= (p.Arg22=)
c.308G= (p.Arg103=)
c.283G=
n.305G=
Xg.111410334C>GCA414247195DCXc.65G>C (p.Arg22Pro)
c.308G>C (p.Arg103Pro)
c.283G>C
n.305G>C
Xg.111410334C>TCA334420949DCXc.65G>A (p.Arg22Gln)
c.308G>A (p.Arg103Gln)
c.283G>A
n.305G>A
ClinVar dbSNP
Xg.111410335G>ACA414247197DCXc.64C>T (p.Arg22Trp)
c.307C>T (p.Arg103Trp)
c.282C>T
n.304C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.111410335G>CCA414247198DCXc.64C>G (p.Arg22Gly)
c.307C>G (p.Arg103Gly)
c.282C>G
n.304C>G
Xg.111410335G=CA2451700441DCXc.64C= (p.Arg22=)
c.307C= (p.Arg103=)
c.282C=
n.304C=
Xg.111410335G>TCA518114781DCXc.64C>A (p.Arg22=)
c.307C>A (p.Arg103=)
c.282C>A
n.304C>A
Xg.111410336G>ACA518114783DCXc.63C>T (p.Ser21=)
c.306C>T (p.Ser102=)
c.281C>T
n.303C>T
Xg.111410336G>CCA518114784DCXc.63C>G (p.Ser21=)
c.306C>G (p.Ser102=)
c.281C>G
n.303C>G
Xg.111410336G>TCA518114785DCXc.63C>A (p.Ser21=)
c.306C>A (p.Ser102=)
c.281C>A
n.303C>A
Xg.111410337G>ACA414247199DCXc.62C>T (p.Ser21Phe)
c.305C>T (p.Ser102Phe)
c.280C>T
n.302C>T
Xg.111410337G>CCA414247201DCXc.62C>G (p.Ser21Cys)
c.305C>G (p.Ser102Cys)
c.280C>G
n.302C>G
Xg.111410337G>TCA414247200DCXc.62C>A (p.Ser21Tyr)
c.305C>A (p.Ser102Tyr)
c.280C>A
n.302C>A
Xg.111410338A>CCA414247202DCXc.61T>G (p.Ser21Ala)
c.304T>G (p.Ser102Ala)
c.279T>G
n.301T>G
Xg.111410338A>GCA414247204DCXc.61T>C (p.Ser21Pro)
c.304T>C (p.Ser102Pro)
c.279T>C
n.301T>C
Xg.111410338A>TCA414247203DCXc.61T>A (p.Ser21Thr)
c.304T>A (p.Ser102Thr)
c.279T>A
n.301T>A
Xg.111410339G>ACA518114787DCXc.60C>T (p.Gly20=)
c.303C>T (p.Gly101=)
c.278C>T
n.300C>T
COSMIC COSMIC
Xg.111410339G>CCA518114788DCXc.60C>G (p.Gly20=)
c.303C>G (p.Gly101=)
c.278C>G
n.300C>G
Xg.111410339G>TCA518114789DCXc.60C>A (p.Gly20=)
c.303C>A (p.Gly101=)
c.278C>A
n.300C>A
Xg.111410340C>ACA414247205DCXc.59G>T (p.Gly20Val)
c.302G>T (p.Gly101Val)
c.277G>T
n.299G>T
Xg.111410340C>GCA414247207DCXc.59G>C (p.Gly20Ala)
c.302G>C (p.Gly101Ala)
c.277G>C
n.299G>C
gnomAD v4
Xg.111410340C>TCA414247206DCXc.59G>A (p.Gly20Asp)
c.302G>A (p.Gly101Asp)
c.277G>A
n.299G>A
Xg.111410341C>ACA414247208DCXc.58G>T (p.Gly20Cys)
c.301G>T (p.Gly101Cys)
c.276G>T
n.298G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.111410341C=CA2451700442DCXc.58G= (p.Gly20=)
c.301G= (p.Gly101=)
c.276G=
n.298G=
Xg.111410341C>GCA414247210DCXc.58G>C (p.Gly20Arg)
c.301G>C (p.Gly101Arg)
c.276G>C
n.298G>C
Xg.111410341C>TCA414247209DCXc.58G>A (p.Gly20Ser)
c.301G>A (p.Gly101Ser)
c.276G>A
n.298G>A
Xg.111410342T>ACA518114793DCXc.57A>T (p.Arg19=)
c.300A>T (p.Arg100=)
c.275A>T
n.297A>T
Xg.111410342T>CCA518114795DCXc.57A>G (p.Arg19=)
c.300A>G (p.Arg100=)
c.275A>G
n.297A>G
Xg.111410342T>GCA518114794DCXc.57A>C (p.Arg19=)
c.300A>C (p.Arg100=)
c.275A>C
n.297A>C
Xg.111410343C>ACA414247211DCXc.56G>T (p.Arg19Leu)
c.299G>T (p.Arg100Leu)
c.274G>T
n.296G>T
Xg.111410343C=CA2451700443DCXc.56G= (p.Arg19=)
c.299G= (p.Arg100=)
c.274G=
n.296G=
Xg.111410343C>GCA414247213DCXc.56G>C (p.Arg19Pro)
c.299G>C (p.Arg100Pro)
c.274G>C
n.296G>C
Xg.111410343C>TCA414247212DCXc.56G>A (p.Arg19Gln)
c.299G>A (p.Arg100Gln)
c.274G>A
n.296G>A
dbSNP gnomAD v3 gnomAD v4
Xg.111410344G>ACA172001DCXc.55C>T (p.Arg19Ter)
c.298C>T (p.Arg100Ter)
c.273C>T
n.295C>T
ClinVar dbSNP
Xg.111410344G>CCA414247214DCXc.55C>G (p.Arg19Gly)
c.298C>G (p.Arg100Gly)
c.273C>G
n.295C>G
Xg.111410344G=CA2451700444DCXc.55C= (p.Arg19=)
c.298C= (p.Arg100=)
c.273C=
n.295C=
Xg.111410344G>TCA518114796DCXc.55C>A (p.Arg19=)
c.298C>A (p.Arg100=)
c.273C>A
n.295C>A
Xg.111410345C>ACA414247215DCXc.54G>T (p.Met18Ile)
c.297G>T (p.Met99Ile)
c.272G>T
n.294G>T
Xg.111410345C>GCA414247216DCXc.54G>C (p.Met18Ile)
c.297G>C (p.Met99Ile)
c.272G>C
n.294G>C
Xg.111410345C>TCA414247217DCXc.54G>A (p.Met18Ile)
c.297G>A (p.Met99Ile)
c.272G>A
n.294G>A
COSMIC COSMIC
Xg.111410346A>CCA414247218DCXc.53T>G (p.Met18Arg)
c.296T>G (p.Met99Arg)
c.271T>G
n.293T>G
Xg.111410346A>GCA414247219DCXc.53T>C (p.Met18Thr)
c.296T>C (p.Met99Thr)
c.271T>C
n.293T>C
Xg.111410346A>TCA414247220DCXc.53T>A (p.Met18Lys)
c.296T>A (p.Met99Lys)
c.271T>A
n.293T>A
Xg.111410347T>ACA414247221DCXc.52A>T (p.Met18Leu)
c.295A>T (p.Met99Leu)
c.270A>T
n.292A>T
Xg.111410347T>CCA414247222DCXc.52A>G (p.Met18Val)
c.295A>G (p.Met99Val)
c.270A>G
n.292A>G
Xg.111410347T>GCA414247223DCXc.52A>C (p.Met18Leu)
c.295A>C (p.Met99Leu)
c.270A>C
n.292A>C
Xg.111410348G>ACA518114800DCXc.51C>T (p.Asn17=)
c.294C>T (p.Asn98=)
c.269C>T
n.291C>T
Xg.111410348G>CCA414247225DCXc.51C>G (p.Asn17Lys)
c.294C>G (p.Asn98Lys)
c.269C>G
n.291C>G
Xg.111410348G>TCA414247224DCXc.51C>A (p.Asn17Lys)
c.294C>A (p.Asn98Lys)
c.269C>A
n.291C>A
Xg.111410349T>ACA414247226DCXc.50A>T (p.Asn17Ile)
c.293A>T (p.Asn98Ile)
c.268A>T
n.290A>T
Xg.111410349T>CCA414247227DCXc.50A>G (p.Asn17Ser)
c.293A>G (p.Asn98Ser)
c.268A>G
n.290A>G
COSMIC COSMIC
Xg.111410349T>GCA414247228DCXc.50A>C (p.Asn17Thr)
c.293A>C (p.Asn98Thr)
c.268A>C
n.290A>C
Xg.111410350T>ACA414247229DCXc.49A>T (p.Asn17Tyr)
c.292A>T (p.Asn98Tyr)
c.267A>T
n.289A>T
Xg.111410350T>CCA414247230DCXc.49A>G (p.Asn17Asp)
c.292A>G (p.Asn98Asp)
c.267A>G
n.289A>G
Xg.111410350T>GCA414247231DCXc.49A>C (p.Asn17His)
c.292A>C (p.Asn98His)
c.267A>C
n.289A>C
Xg.111410351C>ACA414247232DCXc.48G>T (p.Arg16Ser)
c.291G>T (p.Arg97Ser)
c.266G>T
n.288G>T
Xg.111410351C>GCA414247233DCXc.48G>C (p.Arg16Ser)
c.291G>C (p.Arg97Ser)
c.266G>C
n.288G>C
Xg.111410351C>TCA518114805DCXc.48G>A (p.Arg16=)
c.291G>A (p.Arg97=)
c.266G>A
n.288G>A
gnomAD v4
Xg.111410352C>ACA414247234DCXc.47G>T (p.Arg16Met)
c.290G>T (p.Arg97Met)
c.265G>T
n.287G>T
Xg.111410352C=CA2451700445DCXc.47G= (p.Arg16=)
c.290G= (p.Arg97=)
c.265G=
n.287G=
Xg.111410352C>GCA414247235DCXc.47G>C (p.Arg16Thr)
c.290G>C (p.Arg97Thr)
c.265G>C
n.287G>C
Xg.111410352C>TCA414247236DCXc.47G>A (p.Arg16Lys)
c.290G>A (p.Arg97Lys)
c.265G>A
n.287G>A
dbSNP gnomAD v2 gnomAD v4
Xg.111410353T>ACA414247238DCXc.46A>T (p.Arg16Trp)
c.289A>T (p.Arg97Trp)
c.264A>T
n.286A>T
gnomAD v4
Xg.111410353T>CCA414247237DCXc.46A>G (p.Arg16Gly)
c.289A>G (p.Arg97Gly)
c.264A>G
n.286A>G
Xg.111410353T>GCA518114806DCXc.46A>C (p.Arg16=)
c.289A>C (p.Arg97=)
c.264A>C
n.286A>C
Xg.111410354G>ACA518114808DCXc.45C>T (p.Ser15=)
c.288C>T (p.Ser96=)
c.263C>T
n.285C>T
Xg.111410354G>CCA518114809DCXc.45C>G (p.Ser15=)
c.288C>G (p.Ser96=)
c.263C>G
n.285C>G
Xg.111410354G>TCA518114810DCXc.45C>A (p.Ser15=)
c.288C>A (p.Ser96=)
c.263C>A
n.285C>A
Xg.111410355G>ACA414247239DCXc.44C>T (p.Ser15Phe)
c.287C>T (p.Ser96Phe)
c.262C>T
n.284C>T
gnomAD v4
Xg.111410355G>CCA334420950DCXc.44C>G (p.Ser15Cys)
c.287C>G (p.Ser96Cys)
c.262C>G
n.284C>G
dbSNP gnomAD v4
Xg.111410355G=CA2451700446DCXc.44C= (p.Ser15=)
c.287C= (p.Ser96=)
c.262C=
n.284C=
Xg.111410355G>TCA414247240DCXc.44C>A (p.Ser15Tyr)
c.287C>A (p.Ser96Tyr)
c.262C>A
n.284C>A
Xg.111410356A>CCA414247241DCXc.43T>G (p.Ser15Ala)
c.286T>G (p.Ser96Ala)
c.261T>G
n.283T>G
Xg.111410356A>GCA414247242DCXc.43T>C (p.Ser15Pro)
c.286T>C (p.Ser96Pro)
c.261T>C
n.283T>C
Xg.111410356A>TCA414247243DCXc.43T>A (p.Ser15Thr)
c.286T>A (p.Ser96Thr)
c.261T>A
n.283T>A
Xg.111410357T>ACA518114814DCXc.42A>T (p.Thr14=)
c.285A>T (p.Thr95=)
c.260A>T
n.282A>T
Xg.111410357T>CCA518114815DCXc.42A>G (p.Thr14=)
c.285A>G (p.Thr95=)
c.260A>G
n.282A>G
gnomAD v4
Xg.111410357T>GCA518114816DCXc.42A>C (p.Thr14=)
c.285A>C (p.Thr95=)
c.260A>C
n.282A>C
gnomAD v4
Xg.111410358G>ACA414247246DCXc.41C>T (p.Thr14Ile)
c.284C>T (p.Thr95Ile)
c.259C>T
n.281C>T
Xg.111410358G>CCA414247244DCXc.41C>G (p.Thr14Arg)
c.284C>G (p.Thr95Arg)
c.259C>G
n.281C>G
Xg.111410358G>TCA414247245DCXc.41C>A (p.Thr14Lys)
c.284C>A (p.Thr95Lys)
c.259C>A
n.281C>A
Xg.111410359T>ACA414247247DCXc.40A>T (p.Thr14Ser)
c.283A>T (p.Thr95Ser)
c.258A>T
n.280A>T
Xg.111410359T>CCA414247248DCXc.40A>G (p.Thr14Ala)
c.283A>G (p.Thr95Ala)
c.258A>G
n.280A>G
Xg.111410359T>GCA414247249DCXc.40A>C (p.Thr14Pro)
c.283A>C (p.Thr95Pro)
c.258A>C
n.280A>C
Xg.111410360C>ACA414247250DCXc.39G>T (p.Lys13Asn)
c.282G>T (p.Lys94Asn)
c.257G>T
n.279G>T
Xg.111410360C>GCA414247251DCXc.39G>C (p.Lys13Asn)
c.282G>C (p.Lys94Asn)
c.257G>C
n.279G>C
COSMIC COSMIC
Xg.111410360C>TCA518114820DCXc.39G>A (p.Lys13=)
c.282G>A (p.Lys94=)
c.257G>A
n.279G>A
Xg.111410361T>ACA414247252DCXc.38A>T (p.Lys13Met)
c.281A>T (p.Lys94Met)
c.256A>T
n.278A>T
Xg.111410361T>CCA414247254DCXc.38A>G (p.Lys13Arg)
c.281A>G (p.Lys94Arg)
c.256A>G
n.278A>G
Xg.111410361T>GCA414247253DCXc.38A>C (p.Lys13Thr)
c.281A>C (p.Lys94Thr)
c.256A>C
n.278A>C
Xg.111410361_111410362delCA2573159137DCXc.37_38del (p.Lys13AspfsTer15)
c.280_281del (p.Lys94AspfsTer15)
c.255_256del
n.277_278del
ClinVar dbSNP
Xg.111410362T>ACA414247255DCXc.37A>T (p.Lys13Ter)
c.280A>T (p.Lys94Ter)
c.255A>T
n.277A>T
Xg.111410362T>CCA414247256DCXc.37A>G (p.Lys13Glu)
c.280A>G (p.Lys94Glu)
c.255A>G
n.277A>G
Xg.111410362T>GCA414247257DCXc.37A>C (p.Lys13Gln)
c.280A>C (p.Lys94Gln)
c.255A>C
n.277A>C
Xg.111410363A=CA2451700447DCXc.36T= (p.Asp12=)
c.279T= (p.Asp93=)
c.254T=
n.276T=
Xg.111410363A>CCA414247258DCXc.36T>G (p.Asp12Glu)
c.279T>G (p.Asp93Glu)
c.254T>G
n.276T>G
Xg.111410363A>GCA518114822DCXc.36T>C (p.Asp12=)
c.279T>C (p.Asp93=)
c.254T>C
n.276T>C
Xg.111410363A>TCA414247259DCXc.36T>A (p.Asp12Glu)
c.279T>A (p.Asp93Glu)
c.254T>A
n.276T>A
Xg.111410364T>ACA414247260DCXc.35A>T (p.Asp12Val)
c.278A>T (p.Asp93Val)
c.253A>T
n.275A>T
Xg.111410364T>CCA414247261DCXc.35A>G (p.Asp12Gly)
c.278A>G (p.Asp93Gly)
c.253A>G
n.275A>G
ClinVar dbSNP gnomAD v4
Xg.111410364T>GCA414247262DCXc.35A>C (p.Asp12Ala)
c.278A>C (p.Asp93Ala)
c.253A>C
n.275A>C
Xg.111410367_111410368dupCA913191169DCXc.34_35dup (p.Asp12GlufsTer13)
c.277_278dup (p.Asp93GlufsTer13)
c.252_253dup
n.274_275dup
ClinVar dbSNP
Xg.111410365C>ACA414247263DCXc.34G>T (p.Asp12Tyr)
c.277G>T (p.Asp93Tyr)
c.252G>T
n.274G>T
Xg.111410365C>GCA414247264DCXc.34G>C (p.Asp12His)
c.277G>C (p.Asp93His)
c.252G>C
n.274G>C
Xg.111410365C>TCA414247265DCXc.34G>A (p.Asp12Asn)
c.277G>A (p.Asp93Asn)
c.252G>A
n.274G>A
gnomAD v4 COSMIC COSMIC
Xg.111410366T>ACA414247266DCXc.33A>T (p.Arg11Ser)
c.276A>T (p.Arg92Ser)
c.251A>T
n.273A>T
Xg.111410366T>CCA518114828DCXc.33A>G (p.Arg11=)
c.276A>G (p.Arg92=)
c.251A>G
n.273A>G
Xg.111410366T>GCA414247267DCXc.33A>C (p.Arg11Ser)
c.276A>C (p.Arg92Ser)
c.251A>C
n.273A>C
Xg.111410367C>ACA414247268DCXc.32G>T (p.Arg11Ile)
c.275G>T (p.Arg92Ile)
c.250G>T
n.272G>T
Xg.111410367C>GCA414247270DCXc.32G>C (p.Arg11Thr)
c.275G>C (p.Arg92Thr)
c.250G>C
n.272G>C
dbSNP
Xg.111410367C>TCA414247269DCXc.32G>A (p.Arg11Lys)
c.275G>A (p.Arg92Lys)
c.250G>A
n.272G>A
Xg.111410367_111410369delinsCTTCA2451700448DCXc.30_32delinsAAG (p.Glu10=)
c.273_275delinsAAG (p.Glu91=)
c.248_250delinsAAG
n.270_272delinsAAG
Xg.111410368T>ACA414247271DCXc.31A>T (p.Arg11Ter)
c.274A>T (p.Arg92Ter)
c.249A>T
n.271A>T
Xg.111410368T>CCA414247272DCXc.31A>G (p.Arg11Gly)
c.274A>G (p.Arg92Gly)
c.249A>G
n.271A>G
Xg.111410368T>GCA518114833DCXc.31A>C (p.Arg11=)
c.274A>C (p.Arg92=)
c.249A>C
n.271A>C
Xg.111410370delCA2536958887DCXc.31del (p.Arg11GlufsTer13)
c.274del (p.Arg92GlufsTer13)
c.249del
n.271del
Xg.111410369_111410370delCA645294135DCXc.30_31del (p.Asp12Ter)
c.273_274del (p.Asp93Ter)
c.248_249del
n.270_271del
ClinVar dbSNP
Xg.111410369T>ACA414247273DCXc.30A>T (p.Glu10Asp)
c.273A>T (p.Glu91Asp)
c.248A>T
n.270A>T
Xg.111410369T>CCA518114835DCXc.30A>G (p.Glu10=)
c.273A>G (p.Glu91=)
c.248A>G
n.270A>G
Xg.111410369T>GCA414247274DCXc.30A>C (p.Glu10Asp)
c.273A>C (p.Glu91Asp)
c.248A>C
n.270A>C
Xg.111410370T>ACA414247275DCXc.29A>T (p.Glu10Val)
c.272A>T (p.Glu91Val)
c.247A>T
n.269A>T
Xg.111410370T>CCA414247276DCXc.29A>G (p.Glu10Gly)
c.272A>G (p.Glu91Gly)
c.247A>G
n.269A>G
Xg.111410370T>GCA414247277DCXc.29A>C (p.Glu10Ala)
c.272A>C (p.Glu91Ala)
c.247A>C
n.269A>C
Xg.111410371C>ACA414247278DCXc.28G>T (p.Glu10Ter)
c.271G>T (p.Glu91Ter)
c.246G>T
n.268G>T
Xg.111410371C>GCA414247279DCXc.28G>C (p.Glu10Gln)
c.271G>C (p.Glu91Gln)
c.246G>C
n.268G>C
Xg.111410371C>TCA414247280DCXc.28G>A (p.Glu10Lys)
c.271G>A (p.Glu91Lys)
c.246G>A
n.268G>A
COSMIC COSMIC
Xg.111410372G>ACA518114839DCXc.27C>T (p.Asp9=)
c.270C>T (p.Asp90=)
c.245C>T
n.267C>T
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111410372G>CCA414247281DCXc.27C>G (p.Asp9Glu)
c.270C>G (p.Asp90Glu)
c.245C>G
n.267C>G
Xg.111410372G=CA2451700449DCXc.27C= (p.Asp9=)
c.270C= (p.Asp90=)
c.245C=
n.267C=
Xg.111410372G>TCA414247282DCXc.27C>A (p.Asp9Glu)
c.270C>A (p.Asp90Glu)
c.245C>A
n.267C>A
Xg.111410373T>ACA414247285DCXc.26A>T (p.Asp9Val)
c.269A>T (p.Asp90Val)
c.244A>T
n.266A>T
Xg.111410373T>CCA414247283DCXc.26A>G (p.Asp9Gly)
c.269A>G (p.Asp90Gly)
c.244A>G
n.266A>G
Xg.111410373T>GCA414247284DCXc.26A>C (p.Asp9Ala)
c.269A>C (p.Asp90Ala)
c.244A>C
n.266A>C
Xg.111410374C>ACA414247286DCXc.25G>T (p.Asp9Tyr)
c.268G>T (p.Asp90Tyr)
c.243G>T
n.265G>T
COSMIC COSMIC
Xg.111410374C>GCA414247287DCXc.25G>C (p.Asp9His)
c.268G>C (p.Asp90His)
c.243G>C
n.265G>C
Xg.111410374C>TCA414247288DCXc.25G>A (p.Asp9Asn)
c.268G>A (p.Asp90Asn)
c.243G>A
n.265G>A
Xg.111410374_111410376delinsCAACA2451700450DCXc.23_25delinsTTG (p.Phe8=)
c.266_268delinsTTG (p.Phe89=)
c.241_243delinsTTG
n.263_265delinsTTG
Xg.111410375A=CA2451700451DCXc.24T= (p.Phe8=)
c.267T= (p.Phe89=)
c.242T=
n.264T=
Xg.111410375A>CCA414247289DCXc.24T>G (p.Phe8Leu)
c.267T>G (p.Phe89Leu)
c.242T>G
n.264T>G
Xg.111410375A>GCA10493344DCXc.24T>C (p.Phe8=)
c.267T>C (p.Phe89=)
c.242T>C
n.264T>C
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410375A>TCA414247290DCXc.24T>A (p.Phe8Leu)
c.267T>A (p.Phe89Leu)
c.242T>A
n.264T>A
Xg.111410376_111410377delCA207198DCXc.23_24del (p.Phe8Ter)
c.266_267del (p.Phe89Ter)
c.241_242del
n.263_264del
ClinVar dbSNP
Xg.111410376A=CA2451700452DCXc.23T= (p.Phe8=)
c.266T= (p.Phe89=)
c.241T=
n.263T=
Xg.111410376A>CCA414247291DCXc.23T>G (p.Phe8Cys)
c.266T>G (p.Phe89Cys)
c.241T>G
n.263T>G
dbSNP gnomAD v2 gnomAD v4
Xg.111410376A>GCA414247292DCXc.23T>C (p.Phe8Ser)
c.266T>C (p.Phe89Ser)
c.241T>C
n.263T>C
Xg.111410376A>TCA414247293DCXc.23T>A (p.Phe8Tyr)
c.266T>A (p.Phe89Tyr)
c.241T>A
n.263T>A
Xg.111410377A>CCA414247296DCXc.22T>G (p.Phe8Val)
c.265T>G (p.Phe89Val)
c.240T>G
n.262T>G
Xg.111410377A>GCA414247295DCXc.22T>C (p.Phe8Leu)
c.265T>C (p.Phe89Leu)
c.240T>C
n.262T>C
Xg.111410377A>TCA414247294DCXc.22T>A (p.Phe8Ile)
c.265T>A (p.Phe89Ile)
c.240T>A
n.262T>A
Xg.111410378G>ACA518114851DCXc.21C>T (p.His7=)
c.264C>T (p.His88=)
c.239C>T
n.261C>T
Xg.111410378G>CCA414247297DCXc.21C>G (p.His7Gln)
c.264C>G (p.His88Gln)
c.239C>G
n.261C>G
Xg.111410378G>TCA414247298DCXc.21C>A (p.His7Gln)
c.264C>A (p.His88Gln)
c.239C>A
n.261C>A
Xg.111410379T>ACA414247299DCXc.20A>T (p.His7Leu)
c.263A>T (p.His88Leu)
c.238A>T
n.260A>T
Xg.111410379T>CCA414247300DCXc.20A>G (p.His7Arg)
c.263A>G (p.His88Arg)
c.238A>G
n.260A>G
Xg.111410379T>GCA414247301DCXc.20A>C (p.His7Pro)
c.263A>C (p.His88Pro)
c.238A>C
n.260A>C
Xg.111410380G>ACA414247302DCXc.19C>T (p.His7Tyr)
c.262C>T (p.His88Tyr)
c.237C>T
n.259C>T
Xg.111410380G>CCA414247303DCXc.19C>G (p.His7Asp)
c.262C>G (p.His88Asp)
c.237C>G
n.259C>G
Xg.111410380G>TCA414247304DCXc.19C>A (p.His7Asn)
c.262C>A (p.His88Asn)
c.237C>A
n.259C>A
Xg.111410381T>ACA518114857DCXc.18A>T (p.Gly6=)
c.261A>T (p.Gly87=)
c.236A>T
n.258A>T
Xg.111410381T>CCA518114858DCXc.18A>G (p.Gly6=)
c.261A>G (p.Gly87=)
c.236A>G
n.258A>G
Xg.111410381T>GCA518114859DCXc.18A>C (p.Gly6=)
c.261A>C (p.Gly87=)
c.236A>C
n.258A>C
Xg.111410382C>ACA414247305DCXc.17G>T (p.Gly6Val)
c.260G>T (p.Gly87Val)
c.235G>T
n.257G>T
Xg.111410382C>GCA414247306DCXc.17G>C (p.Gly6Ala)
c.260G>C (p.Gly87Ala)
c.235G>C
n.257G>C
Xg.111410382C>TCA414247307DCXc.17G>A (p.Gly6Glu)
c.260G>A (p.Gly87Glu)
c.235G>A
n.257G>A
Xg.111410383C>ACA414247310DCXc.16G>T (p.Gly6Ter)
c.259G>T (p.Gly87Ter)
c.234G>T
n.256G>T
Xg.111410383C>GCA414247309DCXc.16G>C (p.Gly6Arg)
c.259G>C (p.Gly87Arg)
c.234G>C
n.256G>C
Xg.111410383C>TCA414247308DCXc.16G>A (p.Gly6Arg)
c.259G>A (p.Gly87Arg)
c.234G>A
n.256G>A
Xg.111410384A>CCA414247311DCXc.15T>G (p.Phe5Leu)
c.258T>G (p.Phe86Leu)
c.233T>G
n.255T>G
Xg.111410384A>GCA518114295DCXc.15T>C (p.Phe5=)
c.258T>C (p.Phe86=)
c.233T>C
n.255T>C
Xg.111410384A>TCA414247312DCXc.15T>A (p.Phe5Leu)
c.258T>A (p.Phe86Leu)
c.233T>A
n.255T>A
Xg.111410385A>CCA414247313DCXc.14T>G (p.Phe5Cys)
c.257T>G (p.Phe86Cys)
c.232T>G
n.254T>G
Xg.111410385A>GCA414247314DCXc.14T>C (p.Phe5Ser)
c.257T>C (p.Phe86Ser)
c.232T>C
n.254T>C
Xg.111410385A>TCA414247315DCXc.14T>A (p.Phe5Tyr)
c.257T>A (p.Phe86Tyr)
c.232T>A
n.254T>A
Xg.111410386A>CCA414247316DCXc.13T>G (p.Phe5Val)
c.256T>G (p.Phe86Val)
c.231T>G
n.253T>G
Xg.111410386A>GCA414247317DCXc.13T>C (p.Phe5Leu)
c.256T>C (p.Phe86Leu)
c.231T>C
n.253T>C
Xg.111410386A>TCA414247318DCXc.13T>A (p.Phe5Ile)
c.256T>A (p.Phe86Ile)
c.231T>A
n.253T>A
Xg.111410387A>CCA414247319DCXc.12T>G (p.Asp4Glu)
c.255T>G (p.Asp85Glu)
c.230T>G
n.252T>G
Xg.111410387A>GCA518114297DCXc.12T>C (p.Asp4=)
c.255T>C (p.Asp85=)
c.230T>C
n.252T>C
Xg.111410387A>TCA414247320DCXc.12T>A (p.Asp4Glu)
c.255T>A (p.Asp85Glu)
c.230T>A
n.252T>A
Xg.111410388T>ACA414247321DCXc.11A>T (p.Asp4Val)
c.254A>T (p.Asp85Val)
c.229A>T
n.251A>T
Xg.111410388T>CCA414247322DCXc.11A>G (p.Asp4Gly)
c.254A>G (p.Asp85Gly)
c.229A>G
n.251A>G
Xg.111410388T>GCA414247323DCXc.11A>C (p.Asp4Ala)
c.254A>C (p.Asp85Ala)
c.229A>C
n.251A>C
Xg.111410389C>ACA414247325DCXc.10G>T (p.Asp4Tyr)
c.253G>T (p.Asp85Tyr)
c.228G>T
n.250G>T
Xg.111410389C>GCA414247326DCXc.10G>C (p.Asp4His)
c.253G>C (p.Asp85His)
c.228G>C
n.250G>C
Xg.111410389C>TCA414247324DCXc.10G>A (p.Asp4Asn)
c.253G>A (p.Asp85Asn)
c.228G>A
n.250G>A
Xg.111410390A=CA2451700453DCXc.9T= (p.Leu3=)
c.252T= (p.Leu84=)
c.227T=
n.249T=
Xg.111410390A>CCA518114298DCXc.9T>G (p.Leu3=)
c.252T>G (p.Leu84=)
c.227T>G
n.249T>G
Xg.111410390A>GCA518114300DCXc.9T>C (p.Leu3=)
c.252T>C (p.Leu84=)
c.227T>C
n.249T>C
dbSNP gnomAD v4 COSMIC COSMIC
Xg.111410390A>TCA518114299DCXc.9T>A (p.Leu3=)
c.252T>A (p.Leu84=)
c.227T>A
n.249T>A
Xg.111410391A>CCA414247329DCXc.8T>G (p.Leu3Arg)
c.251T>G (p.Leu84Arg)
c.226T>G
n.248T>G
Xg.111410391A>GCA414247327DCXc.8T>C (p.Leu3Pro)
c.251T>C (p.Leu84Pro)
c.226T>C
n.248T>C
Xg.111410391A>TCA414247328DCXc.8T>A (p.Leu3His)
c.251T>A (p.Leu84His)
c.226T>A
n.248T>A
Xg.111410392G>ACA414247330DCXc.7C>T (p.Leu3Phe)
c.250C>T (p.Leu84Phe)
c.225C>T
n.247C>T
gnomAD v4 COSMIC COSMIC
Xg.111410392G>CCA414247331DCXc.7C>G (p.Leu3Val)
c.250C>G (p.Leu84Val)
c.225C>G
n.247C>G
Xg.111410392G>TCA414247332DCXc.7C>A (p.Leu3Ile)
c.250C>A (p.Leu84Ile)
c.225C>A
n.247C>A
Xg.111410393T>ACA414247333DCXc.6A>T (p.Glu2Asp)
c.249A>T (p.Glu83Asp)
c.224A>T
n.246A>T
Xg.111410393T>CCA518114304DCXc.6A>G (p.Glu2=)
c.249A>G (p.Glu83=)
c.224A>G
n.246A>G
Xg.111410393T>GCA414247334DCXc.6A>C (p.Glu2Asp)
c.249A>C (p.Glu83Asp)
c.224A>C
n.246A>C
Xg.111410394T>ACA414247335DCXc.5A>T (p.Glu2Val)
c.248A>T (p.Glu83Val)
c.223A>T
n.245A>T
Xg.111410394T>CCA414247336DCXc.5A>G (p.Glu2Gly)
c.248A>G (p.Glu83Gly)
c.223A>G
n.245A>G
Xg.111410394T>GCA414247337DCXc.5A>C (p.Glu2Ala)
c.248A>C (p.Glu83Ala)
c.223A>C
n.245A>C
Xg.111410395C>ACA414247338DCXc.4G>T (p.Glu2Ter)
c.247G>T (p.Glu83Ter)
c.222G>T
n.244G>T
Xg.111410395C>GCA414247339DCXc.4G>C (p.Glu2Gln)
c.247G>C (p.Glu83Gln)
c.222G>C
n.244G>C
Xg.111410395C>TCA414247340DCXc.4G>A (p.Glu2Lys)
c.247G>A (p.Glu83Lys)
c.222G>A
n.244G>A
ClinVar
Xg.111410396C>ACA414247342DCXc.3G>T (p.Met1Ile)
c.246G>T (p.Met82Ile)
c.221G>T
n.243G>T
Xg.111410396C>GCA414247343DCXc.3G>C (p.Met1Ile)
c.246G>C (p.Met82Ile)
c.221G>C
n.243G>C
Xg.111410396C>TCA414247341DCXc.3G>A (p.Met1Ile)
c.246G>A (p.Met82Ile)
c.221G>A
n.243G>A
Xg.111410397A=CA2451700454DCXc.2T= (p.Met1=)
c.245T= (p.Met82=)
c.220T=
n.242T=
Xg.111410397A>CCA414247344DCXc.2T>G (p.Met1Arg)
c.245T>G (p.Met82Arg)
c.220T>G
n.242T>G
Xg.111410397A>GCA171917DCXc.2T>C (p.Met1Thr)
c.245T>C (p.Met82Thr)
c.220T>C
n.242T>C
ClinVar dbSNP
Xg.111410397A>TCA414247345DCXc.2T>A (p.Met1Lys)
c.245T>A (p.Met82Lys)
c.220T>A
n.242T>A
Xg.111410398T>ACA414247346DCXc.1A>T (p.Met1Leu)
c.244A>T (p.Met82Leu)
c.219A>T
n.241A>T
Xg.111410398T>CCA414247347DCXc.1A>G (p.Met1Val)
c.244A>G (p.Met82Val)
c.219A>G
n.241A>G
Xg.111410398T>GCA414247348DCXc.1A>C (p.Met1Leu)
c.244A>C (p.Met82Leu)
c.219A>C
n.241A>C
Xg.111410399A=CA2451700455DCXc.-1T= (n.-1T=)
c.243T= (p.Asn81=)
c.218T=
n.240T=
Xg.111410399A>CCA414247349DCXc.-1T>G (n.-1T>G)
c.243T>G (p.Asn81Lys)
c.218T>G
n.240T>G
Xg.111410399A>GCA518114307DCXc.-1T>C (n.-1T>C)
c.243T>C (p.Asn81=)
c.218T>C
n.240T>C
dbSNP
Xg.111410399A>TCA414247350DCXc.-1T>A (n.-1T>A)
c.243T>A (p.Asn81Lys)
c.218T>A
n.240T>A
Xg.111410400T>ACA414247351DCXc.-2A>T (n.-2A>T)
c.242A>T (p.Asn81Ile)
c.217A>T
n.239A>T
dbSNP gnomAD v2 gnomAD v4
Xg.111410400T>CCA414247352DCXc.-2A>G (n.-2A>G)
c.242A>G (p.Asn81Ser)
c.217A>G
n.239A>G
Xg.111410400T>GCA414247353DCXc.-2A>C (n.-2A>C)
c.242A>C (p.Asn81Thr)
c.217A>C
n.239A>C
Xg.111410400T=CA2451700456DCXc.-2A= (n.-2A=)
c.242A= (p.Asn81=)
c.217A=
n.239A=
Xg.111410401T>ACA414247354DCXc.-3A>T (n.-3A>T)
c.241A>T (p.Asn81Tyr)
c.216A>T
n.238A>T
Xg.111410401T>CCA414247355DCXc.-3A>G (n.-3A>G)
c.241A>G (p.Asn81Asp)
c.216A>G
n.238A>G
Xg.111410401T>GCA414247356DCXc.-3A>C (n.-3A>C)
c.241A>C (p.Asn81His)
c.216A>C
n.238A>C
Xg.111410402T>ACA414247357DCXc.-4A>T (n.-4A>T)
c.240A>T (p.Gln80His)
c.215A>T
n.237A>T
Xg.111410402T>CCA518114309DCXc.-4A>G (n.-4A>G)
c.240A>G (p.Gln80=)
c.215A>G
n.237A>G
Xg.111410402T>GCA414247358DCXc.-4A>C (n.-4A>C)
c.240A>C (p.Gln80His)
c.215A>C
n.237A>C
Xg.111410403T>ACA414247359DCXc.-5A>T (n.-5A>T)
c.239A>T (p.Gln80Leu)
c.214A>T
n.236A>T
Xg.111410403T>CCA414247360DCXc.-5A>G (n.-5A>G)
c.239A>G (p.Gln80Arg)
c.214A>G
n.236A>G
Xg.111410403T>GCA414247361DCXc.-5A>C (n.-5A>C)
c.239A>C (p.Gln80Pro)
c.214A>C
n.236A>C

Number of alleles fetched