Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.91055394_91055397delCA2054259600KERAc.886+5_886+8del
dbSNP gnomAD v4
12g.91055396T>ACA386013135KERAc.886A>T (p.Ser296Cys)
12g.91055396T>CCA386013137KERAc.886A>G (p.Ser296Gly)
12g.91055396T>GCA386013136KERAc.886A>C (p.Ser296Arg)
12g.91055397T>ACA386013138KERAc.885A>T (p.Lys295Asn)
12g.91055397T>CCA481306333KERAc.885A>G (p.Lys295=)
12g.91055397T>GCA386013139KERAc.885A>C (p.Lys295Asn)
12g.91055398T>ACA386013140KERAc.884A>T (p.Lys295Ile)
12g.91055398T>CCA386013142KERAc.884A>G (p.Lys295Arg)
12g.91055398T>GCA386013141KERAc.884A>C (p.Lys295Thr)
12g.91055399T>ACA386013143KERAc.883A>T (p.Lys295Ter)
12g.91055399T>CCA6716488KERAc.883A>G (p.Lys295Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055399T>GCA386013144KERAc.883A>C (p.Lys295Gln)
12g.91055399T=CA2054259603KERAc.883A= (p.Lys295=)
12g.91055400A>CCA386013145KERAc.882T>G (p.Ile294Met)
12g.91055400A>GCA481306336KERAc.882T>C (p.Ile294=)
12g.91055400A>TCA481306337KERAc.882T>A (p.Ile294=)
12g.91055401A>CCA386013146KERAc.881T>G (p.Ile294Ser)
12g.91055401A>GCA386013147KERAc.881T>C (p.Ile294Thr)
12g.91055401A>TCA386013148KERAc.881T>A (p.Ile294Asn)
12g.91055402T>ACA386013149KERAc.880A>T (p.Ile294Phe)
12g.91055402T>CCA386013150KERAc.880A>G (p.Ile294Val)
12g.91055402T>GCA386013151KERAc.880A>C (p.Ile294Leu)
12g.91055403T>ACA241201162KERAc.879A>T (p.Lys293Asn)
dbSNP gnomAD v4
12g.91055403T>CCA481306341KERAc.879A>G (p.Lys293=)
gnomAD v4
12g.91055403T>GCA386013152KERAc.879A>C (p.Lys293Asn)
12g.91055403T=CA2054259604KERAc.879A= (p.Lys293=)
12g.91055404T>ACA386013155KERAc.878A>T (p.Lys293Ile)
12g.91055404T>CCA386013153KERAc.878A>G (p.Lys293Arg)
12g.91055404T>GCA386013154KERAc.878A>C (p.Lys293Thr)
12g.91055405T>ACA386013156KERAc.877A>T (p.Lys293Ter)
12g.91055405T>CCA386013157KERAc.877A>G (p.Lys293Glu)
12g.91055405T>GCA386013158KERAc.877A>C (p.Lys293Gln)
gnomAD v4
12g.91055406G>ACA481306345KERAc.876C>T (p.Asn292=)
12g.91055406G>CCA386013159KERAc.876C>G (p.Asn292Lys)
12g.91055406G>TCA386013160KERAc.876C>A (p.Asn292Lys)
gnomAD v4
12g.91055407T>ACA386013161KERAc.875A>T (p.Asn292Ile)
12g.91055407T>CCA386013162KERAc.875A>G (p.Asn292Ser)
12g.91055407T>GCA386013163KERAc.875A>C (p.Asn292Thr)
12g.91055408T>ACA386013166KERAc.874A>T (p.Asn292Tyr)
COSMIC
12g.91055408T>CCA386013165KERAc.874A>G (p.Asn292Asp)
12g.91055408T>GCA386013164KERAc.874A>C (p.Asn292His)
12g.91055409A>CCA386013167KERAc.873T>G (p.His291Gln)
12g.91055409A>GCA481306347KERAc.873T>C (p.His291=)
gnomAD v4
12g.91055409A>TCA386013168KERAc.873T>A (p.His291Gln)
12g.91055410T>ACA386013169KERAc.872A>T (p.His291Leu)
12g.91055410T>CCA386013170KERAc.872A>G (p.His291Arg)
12g.91055410T>GCA386013171KERAc.872A>C (p.His291Pro)
12g.91055411G>ACA386013172KERAc.871C>T (p.His291Tyr)
COSMIC
12g.91055411G>CCA386013173KERAc.871C>G (p.His291Asp)
12g.91055411G>TCA386013174KERAc.871C>A (p.His291Asn)
12g.91055412A>CCA386013175KERAc.870T>G (p.Asp290Glu)
12g.91055412A>GCA481306351KERAc.870T>C (p.Asp290=)
12g.91055412A>TCA386013176KERAc.870T>A (p.Asp290Glu)
12g.91055413T>ACA386013179KERAc.869A>T (p.Asp290Val)
12g.91055413T>CCA386013177KERAc.869A>G (p.Asp290Gly)
dbSNP gnomAD v4
12g.91055413T>GCA386013178KERAc.869A>C (p.Asp290Ala)
12g.91055413T=CA2054259605KERAc.869A= (p.Asp290=)
12g.91055414C>ACA386013180KERAc.868G>T (p.Asp290Tyr)
12g.91055414C>GCA386013181KERAc.868G>C (p.Asp290His)
gnomAD v4
12g.91055414C>TCA386013182KERAc.868G>A (p.Asp290Asn)
12g.91055415A=CA2054259606KERAc.867T= (p.Leu289=)
12g.91055415A>CCA481306356KERAc.867T>G (p.Leu289=)
12g.91055415A>GCA481306354KERAc.867T>C (p.Leu289=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.91055415A>TCA481306353KERAc.867T>A (p.Leu289=)
12g.91055416A>CCA386013183KERAc.866T>G (p.Leu289Arg)
12g.91055416A>GCA386013184KERAc.866T>C (p.Leu289Pro)
12g.91055416A>TCA386013185KERAc.866T>A (p.Leu289His)
12g.91055417G>ACA386013186KERAc.865C>T (p.Leu289Phe)
12g.91055417G>CCA386013187KERAc.865C>G (p.Leu289Val)
12g.91055417G>TCA386013188KERAc.865C>A (p.Leu289Ile)
12g.91055418G>ACA481306357KERAc.864C>T (p.His288=)
dbSNP gnomAD v4 COSMIC
12g.91055418G>CCA386013190KERAc.864C>G (p.His288Gln)
12g.91055418G=CA2054259607KERAc.864C= (p.His288=)
12g.91055418G>TCA386013189KERAc.864C>A (p.His288Gln)
dbSNP gnomAD v2 gnomAD v4
12g.91055419T>ACA241201163KERAc.863A>T (p.His288Leu)
dbSNP
12g.91055419T>CCA386013191KERAc.863A>G (p.His288Arg)
gnomAD v4
12g.91055419T>GCA386013192KERAc.863A>C (p.His288Pro)
12g.91055419T=CA2054259608KERAc.863A= (p.His288=)
12g.91055420G>ACA386013193KERAc.862C>T (p.His288Tyr)
12g.91055420G>CCA386013194KERAc.862C>G (p.His288Asp)
12g.91055420G>TCA386013195KERAc.862C>A (p.His288Asn)
12g.91055421A>CCA481306359KERAc.861T>G (p.Leu287=)
12g.91055421A>GCA481306361KERAc.861T>C (p.Leu287=)
12g.91055421A>TCA481306360KERAc.861T>A (p.Leu287=)
12g.91055422A>CCA386013196KERAc.860T>G (p.Leu287Arg)
12g.91055422A>GCA386013197KERAc.860T>C (p.Leu287Pro)
12g.91055422A>TCA386013198KERAc.860T>A (p.Leu287His)
12g.91055423G>ACA386013200KERAc.859C>T (p.Leu287Phe)
12g.91055423G>CCA386013201KERAc.859C>G (p.Leu287Val)
12g.91055423G>TCA386013202KERAc.859C>A (p.Leu287Ile)
12g.91055424G>ACA481306364KERAc.858C>T (p.His286=)
dbSNP gnomAD v2 gnomAD v4
12g.91055424G>CCA386013204KERAc.858C>G (p.His286Gln)
12g.91055424G=CA2054259609KERAc.858C= (p.His286=)
12g.91055424G>TCA386013203KERAc.858C>A (p.His286Gln)
12g.91055425T>ACA386013205KERAc.857A>T (p.His286Leu)
12g.91055425T>CCA386013206KERAc.857A>G (p.His286Arg)
12g.91055425T>GCA386013207KERAc.857A>C (p.His286Pro)
12g.91055426G>ACA386013208KERAc.856C>T (p.His286Tyr)
gnomAD v4
12g.91055426G>CCA386013209KERAc.856C>G (p.His286Asp)
12g.91055426G>TCA386013210KERAc.856C>A (p.His286Asn)
12g.91055427C>ACA386013211KERAc.855G>T (p.Gln285His)
12g.91055427C=CA2054259610KERAc.855G= (p.Gln285=)
12g.91055427C>GCA241201167KERAc.855G>C (p.Gln285His)
dbSNP gnomAD v2 gnomAD v4
12g.91055427C>TCA6716489KERAc.855G>A (p.Gln285=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055428T>ACA386013212KERAc.854A>T (p.Gln285Leu)
12g.91055428T>CCA6716490KERAc.854A>G (p.Gln285Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055428T>GCA386013213KERAc.854A>C (p.Gln285Pro)
12g.91055428T=CA2054259611KERAc.854A= (p.Gln285=)
12g.91055429G>ACA386013214KERAc.853C>T (p.Gln285Ter)
dbSNP gnomAD v4
12g.91055429G>CCA386013216KERAc.853C>G (p.Gln285Glu)
12g.91055429G=CA2054259612KERAc.853C= (p.Gln285=)
12g.91055429G>TCA386013215KERAc.853C>A (p.Gln285Lys)
12g.91055430C>ACA6716491KERAc.852G>T (p.Leu284=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055430C=CA2054259613KERAc.852G= (p.Leu284=)
12g.91055430C>GCA481306370KERAc.852G>C (p.Leu284=)
12g.91055430C>TCA481306371KERAc.852G>A (p.Leu284=)
12g.91055431A>CCA386013217KERAc.851T>G (p.Leu284Arg)
12g.91055431A>GCA386013218KERAc.851T>C (p.Leu284Pro)
12g.91055431A>TCA386013219KERAc.851T>A (p.Leu284Gln)
12g.91055432G>ACA6716492KERAc.850C>T (p.Leu284=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055432G>CCA386013220KERAc.850C>G (p.Leu284Val)
12g.91055432G=CA2054259614KERAc.850C= (p.Leu284=)
12g.91055432G>TCA386013221KERAc.850C>A (p.Leu284Met)
12g.91055433A>CCA386013222KERAc.849T>G (p.His283Gln)
12g.91055433A>GCA481306375KERAc.849T>C (p.His283=)
12g.91055433A>TCA386013223KERAc.849T>A (p.His283Gln)
gnomAD v4
12g.91055434T>ACA386013226KERAc.848A>T (p.His283Leu)
12g.91055434T>CCA386013225KERAc.848A>G (p.His283Arg)
12g.91055434T>GCA386013224KERAc.848A>C (p.His283Pro)
gnomAD v4
12g.91055435G>ACA386013227KERAc.847C>T (p.His283Tyr)
12g.91055435G>CCA386013228KERAc.847C>G (p.His283Asp)
12g.91055435G>TCA386013229KERAc.847C>A (p.His283Asn)
dbSNP gnomAD v4
12g.91055436A=CA2054259615KERAc.846T= (p.Ala282=)
12g.91055436A>CCA481306377KERAc.846T>G (p.Ala282=)
gnomAD v4
12g.91055436A>GCA6716493KERAc.846T>C (p.Ala282=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055436A>TCA481306379KERAc.846T>A (p.Ala282=)
12g.91055437G>ACA6716494KERAc.845C>T (p.Ala282Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055437G>CCA386013230KERAc.845C>G (p.Ala282Gly)
12g.91055437G=CA2054259616KERAc.845C= (p.Ala282=)
12g.91055437G>TCA386013231KERAc.845C>A (p.Ala282Asp)
12g.91055438C>ACA386013232KERAc.844G>T (p.Ala282Ser)
12g.91055438C>GCA386013233KERAc.844G>C (p.Ala282Pro)
12g.91055438C>TCA386013234KERAc.844G>A (p.Ala282Thr)
12g.91055439_91055446dupCA6716495KERAc.837_844dup (p.Ala282GlufsTer19)
dbSNP ExAC gnomAD v4
12g.91055439A>CCA386013235KERAc.843T>G (p.Ser281Arg)
12g.91055439A>GCA481306381KERAc.843T>C (p.Ser281=)
gnomAD v4
12g.91055439A>TCA386013236KERAc.843T>A (p.Ser281Arg)
12g.91055440C>ACA386013237KERAc.842G>T (p.Ser281Ile)
12g.91055440C>GCA386013238KERAc.842G>C (p.Ser281Thr)
12g.91055440C>TCA386013239KERAc.842G>A (p.Ser281Asn)
gnomAD v4
12g.91055441T>ACA386013240KERAc.841A>T (p.Ser281Cys)
12g.91055441T>CCA386013241KERAc.841A>G (p.Ser281Gly)
12g.91055441T>GCA386013242KERAc.841A>C (p.Ser281Arg)
12g.91055442G>ACA481306385KERAc.840C>T (p.Ile280=)
12g.91055442G>CCA386013243KERAc.840C>G (p.Ile280Met)
12g.91055442G>TCA481306384KERAc.840C>A (p.Ile280=)
12g.91055443A>CCA386013244KERAc.839T>G (p.Ile280Ser)
12g.91055443A>GCA386013245KERAc.839T>C (p.Ile280Thr)
12g.91055443A>TCA386013246KERAc.839T>A (p.Ile280Asn)
12g.91055444T>ACA386013247KERAc.838A>T (p.Ile280Phe)
12g.91055444T>CCA386013248KERAc.838A>G (p.Ile280Val)
12g.91055444T>GCA386013249KERAc.838A>C (p.Ile280Leu)
12g.91055445T>ACA481306387KERAc.837A>T (p.Arg279=)
12g.91055445T>CCA481306388KERAc.837A>G (p.Arg279=)
dbSNP
12g.91055445T>GCA481306389KERAc.837A>C (p.Arg279=)
12g.91055445T=CA2054259617KERAc.837A= (p.Arg279=)
12g.91055446C>ACA386013251KERAc.836G>T (p.Arg279Leu)
12g.91055446C=CA2054259618KERAc.836G= (p.Arg279=)
12g.91055446C>GCA386013250KERAc.836G>C (p.Arg279Pro)
12g.91055446C>TCA6716496KERAc.836G>A (p.Arg279Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055447G>ACA144359KERAc.835C>T (p.Arg279Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055447G>CCA386013252KERAc.835C>G (p.Arg279Gly)
12g.91055447G=CA2054259619KERAc.835C= (p.Arg279=)
12g.91055447G>TCA481306393KERAc.835C>A (p.Arg279=)
12g.91055450delCA2620149234KERAc.835del (p.Arg279GlufsTer19)
gnomAD v4
12g.91055448G>ACA481306394KERAc.834C>T (p.Pro278=)
gnomAD v4
12g.91055448G>CCA481306396KERAc.834C>G (p.Pro278=)
12g.91055448G>TCA481306395KERAc.834C>A (p.Pro278=)
12g.91055449G>ACA386013253KERAc.833C>T (p.Pro278Leu)
dbSNP
12g.91055449G>CCA386013254KERAc.833C>G (p.Pro278Arg)
12g.91055449G=CA2054259620KERAc.833C= (p.Pro278=)
12g.91055449G>TCA386013255KERAc.833C>A (p.Pro278His)
12g.91055450G>ACA6716497KERAc.832C>T (p.Pro278Ser)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.91055450G>CCA386013256KERAc.832C>G (p.Pro278Ala)
12g.91055450G=CA2054259621KERAc.832C= (p.Pro278=)
12g.91055450G>TCA386013257KERAc.832C>A (p.Pro278Thr)
12g.91055451A>CCA481306398KERAc.831T>G (p.Val277=)
12g.91055451A>GCA481306399KERAc.831T>C (p.Val277=)
12g.91055451A>TCA481306400KERAc.831T>A (p.Val277=)
12g.91055452A>CCA386013258KERAc.830T>G (p.Val277Gly)
12g.91055452A>GCA386013259KERAc.830T>C (p.Val277Ala)
12g.91055452A>TCA386013260KERAc.830T>A (p.Val277Asp)
12g.91055453C>ACA6716499KERAc.829G>T (p.Val277Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055453C=CA2054259622KERAc.829G= (p.Val277=)
12g.91055453C>GCA386013261KERAc.829G>C (p.Val277Leu)
dbSNP gnomAD v3 gnomAD v4
12g.91055453C>TCA6716498KERAc.829G>A (p.Val277Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C>ACA6716500KERAc.828G>T (p.Lys276Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C=CA2054259623KERAc.828G= (p.Lys276=)
12g.91055454C>GCA6716502KERAc.828G>C (p.Lys276Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055454C>TCA6716501KERAc.828G>A (p.Lys276=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055455T>ACA386013262KERAc.827A>T (p.Lys276Met)
12g.91055455T>CCA386013263KERAc.827A>G (p.Lys276Arg)
12g.91055455T>GCA386013264KERAc.827A>C (p.Lys276Thr)
12g.91055456T>ACA386013265KERAc.826A>T (p.Lys276Ter)
12g.91055456T>CCA386013266KERAc.826A>G (p.Lys276Glu)
gnomAD v4
12g.91055456T>GCA386013267KERAc.826A>C (p.Lys276Gln)
12g.91055457T>ACA481306407KERAc.825A>T (p.Thr275=)
12g.91055457T>CCA481306405KERAc.825A>G (p.Thr275=)
12g.91055457T>GCA481306406KERAc.825A>C (p.Thr275=)
12g.91055458G>ACA386013268KERAc.824C>T (p.Thr275Ile)
gnomAD v4
12g.91055458G>CCA386013269KERAc.824C>G (p.Thr275Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.91055458G=CA2054259624KERAc.824C= (p.Thr275=)
12g.91055458G>TCA386013270KERAc.824C>A (p.Thr275Lys)
COSMIC
12g.91055459T>ACA386013271KERAc.823A>T (p.Thr275Ser)
12g.91055459T>CCA386013273KERAc.823A>G (p.Thr275Ala)
12g.91055459T>GCA386013272KERAc.823A>C (p.Thr275Pro)
gnomAD v4
12g.91055460G>ACA481306417KERAc.822C>T (p.Leu274=)
dbSNP
12g.91055460G>CCA481306418KERAc.822C>G (p.Leu274=)
12g.91055460G>TCA481306420KERAc.822C>A (p.Leu274=)
12g.91055461A>CCA386013274KERAc.821T>G (p.Leu274Arg)
12g.91055461A>GCA386013275KERAc.821T>C (p.Leu274Pro)
12g.91055461A>TCA386013276KERAc.821T>A (p.Leu274His)
gnomAD v4
12g.91055462G>ACA386013277KERAc.820C>T (p.Leu274Phe)
12g.91055462G>CCA386013278KERAc.820C>G (p.Leu274Val)
12g.91055462G>TCA386013279KERAc.820C>A (p.Leu274Ile)
12g.91055463T>ACA386013280KERAc.819A>T (p.Gln273His)
12g.91055463T>CCA241201216KERAc.819A>G (p.Gln273=)
dbSNP gnomAD v4
12g.91055463T>GCA386013281KERAc.819A>C (p.Gln273His)
12g.91055463T=CA2054259625KERAc.819A= (p.Gln273=)
12g.91055464T>ACA386013282KERAc.818A>T (p.Gln273Leu)
12g.91055464T>CCA386013284KERAc.818A>G (p.Gln273Arg)
12g.91055464T>GCA386013283KERAc.818A>C (p.Gln273Pro)
12g.91055465G>ACA386013285KERAc.817C>T (p.Gln273Ter)
12g.91055465G>CCA386013287KERAc.817C>G (p.Gln273Glu)
12g.91055465G>TCA386013286KERAc.817C>A (p.Gln273Lys)
12g.91055466A=CA2054259626KERAc.816T= (p.Asn272=)
12g.91055466A>CCA386013288KERAc.816T>G (p.Asn272Lys)
12g.91055466A>GCA481306430KERAc.816T>C (p.Asn272=)
12g.91055466A>TCA386013289KERAc.816T>A (p.Asn272Lys)
dbSNP gnomAD v2 gnomAD v4
12g.91055467T>ACA386013290KERAc.815A>T (p.Asn272Ile)
12g.91055467T>CCA386013291KERAc.815A>G (p.Asn272Ser)
dbSNP gnomAD v2 gnomAD v4
12g.91055467T>GCA386013292KERAc.815A>C (p.Asn272Thr)
12g.91055467T=CA2054259627KERAc.815A= (p.Asn272=)
12g.91055468T>ACA386013293KERAc.814A>T (p.Asn272Tyr)
12g.91055468T>CCA386013294KERAc.814A>G (p.Asn272Asp)
gnomAD v4
12g.91055468T>GCA386013295KERAc.814A>C (p.Asn272His)
12g.91055469G>ACA481306435KERAc.813C>T (p.His271=)
gnomAD v4
12g.91055469G>CCA386013296KERAc.813C>G (p.His271Gln)
12g.91055469G>TCA386013297KERAc.813C>A (p.His271Gln)
12g.91055470T>ACA386013300KERAc.812A>T (p.His271Leu)
12g.91055470T>CCA386013298KERAc.812A>G (p.His271Arg)
gnomAD v4
12g.91055470T>GCA386013299KERAc.812A>C (p.His271Pro)
12g.91055471G>ACA386013301KERAc.811C>T (p.His271Tyr)
12g.91055471G>CCA386013302KERAc.811C>G (p.His271Asp)
12g.91055471G>TCA386013303KERAc.811C>A (p.His271Asn)
12g.91055472C>ACA6716504KERAc.810G>T (p.Ser270=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055472C=CA2054259628KERAc.810G= (p.Ser270=)
12g.91055472C>GCA481306440KERAc.810G>C (p.Ser270=)
dbSNP gnomAD v3 gnomAD v4
12g.91055472C>TCA6716503KERAc.810G>A (p.Ser270=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055473G>ACA6716505KERAc.809C>T (p.Ser270Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.91055473G>CCA386013304KERAc.809C>G (p.Ser270Trp)
dbSNP
12g.91055473G=CA2054259629KERAc.809C= (p.Ser270=)
12g.91055473G>TCA386013305KERAc.809C>A (p.Ser270Ter)
12g.91055474A=CA2054259630KERAc.808T= (p.Ser270=)
12g.91055474A>CCA241201223KERAc.808T>G (p.Ser270Ala)
dbSNP
12g.91055474A>GCA386013307KERAc.808T>C (p.Ser270Pro)
12g.91055474A>TCA386013306KERAc.808T>A (p.Ser270Thr)
12g.91055475C>ACA481306447KERAc.807G>T (p.Leu269=)
dbSNP gnomAD v3 gnomAD v4
12g.91055475C=CA2054259631KERAc.807G= (p.Leu269=)
12g.91055475C>GCA481306448KERAc.807G>C (p.Leu269=)
12g.91055475C>TCA241201233KERAc.807G>A (p.Leu269=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055476A>CCA386013308KERAc.806T>G (p.Leu269Arg)
12g.91055476A>GCA386013309KERAc.806T>C (p.Leu269Pro)
12g.91055476A>TCA386013310KERAc.806T>A (p.Leu269Gln)
12g.91055477G>ACA481306450KERAc.805C>T (p.Leu269=)
12g.91055477G>CCA386013311KERAc.805C>G (p.Leu269Val)
12g.91055477G>TCA386013312KERAc.805C>A (p.Leu269Met)
12g.91055478T>ACA386013313KERAc.804A>T (p.Gln268His)
dbSNP
12g.91055478T>CCA241201239KERAc.804A>G (p.Gln268=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.91055478T>GCA386013314KERAc.804A>C (p.Gln268His)
12g.91055478T=CA2054259632KERAc.804A= (p.Gln268=)
12g.91055479T>ACA386013315KERAc.803A>T (p.Gln268Leu)
12g.91055479T>CCA386013316KERAc.803A>G (p.Gln268Arg)
12g.91055479T>GCA386013317KERAc.803A>C (p.Gln268Pro)
12g.91055480G>ACA386013318KERAc.802C>T (p.Gln268Ter)
12g.91055480G>CCA386013320KERAc.802C>G (p.Gln268Glu)
12g.91055480G>TCA386013319KERAc.802C>A (p.Gln268Lys)
12g.91055481A>CCA481306458KERAc.801T>G (p.Leu267=)
12g.91055481A>GCA481306459KERAc.801T>C (p.Leu267=)
COSMIC
12g.91055481A>TCA481306461KERAc.801T>A (p.Leu267=)
12g.91055482A>CCA386013321KERAc.800T>G (p.Leu267Arg)
12g.91055482A>GCA386013322KERAc.800T>C (p.Leu267Pro)
12g.91055482A>TCA386013323KERAc.800T>A (p.Leu267His)
12g.91055483G>ACA241201245KERAc.799C>T (p.Leu267Phe)
dbSNP gnomAD v4
12g.91055483G>CCA386013324KERAc.799C>G (p.Leu267Val)
gnomAD v4
12g.91055483G=CA2054259633KERAc.799C= (p.Leu267=)
12g.91055483G>TCA386013325KERAc.799C>A (p.Leu267Ile)
gnomAD v4
12g.91055484A>CCA386013326KERAc.798T>G (p.Asp266Glu)
12g.91055484A>GCA481306468KERAc.798T>C (p.Asp266=)
gnomAD v4
12g.91055484A>TCA386013327KERAc.798T>A (p.Asp266Glu)
12g.91055485T>ACA386013328KERAc.797A>T (p.Asp266Val)
12g.91055485T>CCA6716506KERAc.797A>G (p.Asp266Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055485T>GCA386013329KERAc.797A>C (p.Asp266Ala)
12g.91055485T=CA2054259634KERAc.797A= (p.Asp266=)
12g.91055486C>ACA386013330KERAc.796G>T (p.Asp266Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.91055486C=CA2054259635KERAc.796G= (p.Asp266=)
12g.91055486C>GCA386013331KERAc.796G>C (p.Asp266His)
12g.91055486C>TCA386013332KERAc.796G>A (p.Asp266Asn)
12g.91055487T>ACA481306475KERAc.795A>T (p.Leu265=)
12g.91055487T>CCA481306476KERAc.795A>G (p.Leu265=)
dbSNP gnomAD v2 gnomAD v4
12g.91055487T>GCA481306477KERAc.795A>C (p.Leu265=)
12g.91055487T=CA2054259636KERAc.795A= (p.Leu265=)
12g.91055488A=CA2054259637KERAc.794T= (p.Leu265=)
12g.91055488A>CCA386013333KERAc.794T>G (p.Leu265Arg)
12g.91055488A>GCA6716507KERAc.794T>C (p.Leu265Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055488A>TCA386013334KERAc.794T>A (p.Leu265Gln)
12g.91055489G>ACA481306478KERAc.793C>T (p.Leu265=)
12g.91055489G>CCA386013335KERAc.793C>G (p.Leu265Val)
12g.91055489G>TCA386013336KERAc.793C>A (p.Leu265Ile)
12g.91055490A=CA2054259638KERAc.792T= (p.Ile264=)
12g.91055490A>CCA386013337KERAc.792T>G (p.Ile264Met)
12g.91055490A>GCA481306480KERAc.792T>C (p.Ile264=)
12g.91055490A>TCA6716508KERAc.792T>A (p.Ile264=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055491A>CCA386013338KERAc.791T>G (p.Ile264Ser)
12g.91055491A>GCA386013339KERAc.791T>C (p.Ile264Thr)
12g.91055491A>TCA386013340KERAc.791T>A (p.Ile264Asn)
12g.91055492T>ACA386013341KERAc.790A>T (p.Ile264Phe)
12g.91055492T>CCA6716509KERAc.790A>G (p.Ile264Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.91055492T>GCA386013342KERAc.790A>C (p.Ile264Leu)
12g.91055492T=CA2054259639KERAc.790A= (p.Ile264=)
12g.91055493T>ACA481306483KERAc.789A>T (p.Ser263=)
12g.91055493T>CCA481306484KERAc.789A>G (p.Ser263=)
12g.91055493T>GCA481306486KERAc.789A>C (p.Ser263=)
12g.91055497_91055499delCA2620149235KERAc.787_789del (p.Ser263del)
gnomAD v4
12g.91055494G>ACA241201269KERAc.788C>T (p.Ser263Leu)
dbSNP gnomAD v2 gnomAD v4
12g.91055494G>CCA386013343KERAc.788C>G (p.Ser263Ter)
12g.91055494G=CA2054259640KERAc.788C= (p.Ser263=)
12g.91055494G>TCA386013344KERAc.788C>A (p.Ser263Ter)
12g.91055495A>CCA386013345KERAc.787T>G (p.Ser263Ala)
12g.91055495A>GCA386013346KERAc.787T>C (p.Ser263Pro)
12g.91055495A>TCA386013347KERAc.787T>A (p.Ser263Thr)
12g.91055496T>ACA6716510KERAc.786A>T (p.Ser262=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.91055496T>CCA481306490KERAc.786A>G (p.Ser262=)
dbSNP gnomAD v4
12g.91055496T>GCA481306491KERAc.786A>C (p.Ser262=)
12g.91055496T=CA2054259641KERAc.786A= (p.Ser262=)

Number of alleles fetched