Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48688838_48688918delCA2693644735WASn.354_434del
c.1110_1190del (p.Pro371_Pro397del)
c.954_1034del (p.Pro319_Pro345del)
 gnomAD v4
Xg.48688838_48688927delCA2693644759WASn.354_443del
c.1110_1199del (p.Pro371_Pro400del)
c.954_1043del (p.Pro319_Pro348del)
 gnomAD v4
Xg.48688862T>ACA516356253WASn.378T>A
c.1134T>A (p.Ser378=)
c.978T>A (p.Ser326=)
Xg.48688862T>CCA516356254WASn.378T>C
c.1134T>C (p.Ser378=)
c.978T>C (p.Ser326=)
 gnomAD v4
Xg.48688862T>GCA516356252WASn.378T>G
c.1134T>G (p.Ser378=)
c.978T>G (p.Ser326=)
 ClinVar
Xg.48688863G>ACA412873355WASn.379G>A
c.1135G>A (p.Gly379Arg)
c.979G>A (p.Gly327Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688863G>CCA412873356WASn.379G>C
c.1135G>C (p.Gly379Arg)
c.979G>C (p.Gly327Arg)
Xg.48688863G=CA2428355719WASn.379G=
c.1135G= (p.Gly379=)
c.979G= (p.Gly327=)
Xg.48688863G>TCA412873357WASn.379G>T
c.1135G>T (p.Gly379Ter)
c.979G>T (p.Gly327Ter)
 gnomAD v4
Xg.48688864G>ACA412873358WASn.380G>A
c.1136G>A (p.Gly379Glu)
c.980G>A (p.Gly327Glu)
 gnomAD v4
Xg.48688864G>CCA412873360WASn.380G>C
c.1136G>C (p.Gly379Ala)
c.980G>C (p.Gly327Ala)
Xg.48688864G>TCA412873359WASn.380G>T
c.1136G>T (p.Gly379Val)
c.980G>T (p.Gly327Val)
 gnomAD v4
Xg.48688865A=CA2428355720WASn.381A=
c.1137A= (p.Gly379=)
c.981A= (p.Gly327=)
Xg.48688865A>CCA516356256WASn.381A>C
c.1137A>C (p.Gly379=)
c.981A>C (p.Gly327=)
 dbSNP
Xg.48688865A>GCA516356257WASn.381A>G
c.1137A>G (p.Gly379=)
c.981A>G (p.Gly327=)
 gnomAD v4
Xg.48688865A>TCA516356258WASn.381A>T
c.1137A>T (p.Gly379=)
c.981A>T (p.Gly327=)
 dbSNP
Xg.48688866C>ACA412873361WASn.382C>A
c.1138C>A (p.Pro380Thr)
c.982C>A (p.Pro328Thr)
 gnomAD v4
Xg.48688866C>GCA412873362WASn.382C>G
c.1138C>G (p.Pro380Ala)
c.982C>G (p.Pro328Ala)
Xg.48688866C>TCA412873363WASn.382C>T
c.1138C>T (p.Pro380Ser)
c.982C>T (p.Pro328Ser)
 gnomAD v4
Xg.48688867C>ACA412873364WASn.383C>A
c.1139C>A (p.Pro380Gln)
c.983C>A (p.Pro328Gln)
 gnomAD v4
Xg.48688867C=CA2428355721WASn.383C=
c.1139C= (p.Pro380=)
c.983C= (p.Pro328=)
Xg.48688867C>GCA412873365WASn.383C>G
c.1139C>G (p.Pro380Arg)
c.983C>G (p.Pro328Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688867C>TCA412873366WASn.383C>T
c.1139C>T (p.Pro380Leu)
c.983C>T (p.Pro328Leu)
 gnomAD v4
Xg.48688868A>CCA516356264WASn.384A>C
c.1140A>C (p.Pro380=)
c.984A>C (p.Pro328=)
 ClinVar
Xg.48688868A>GCA516356263WASn.384A>G
c.1140A>G (p.Pro380=)
c.984A>G (p.Pro328=)
Xg.48688868A>TCA516356262WASn.384A>T
c.1140A>T (p.Pro380=)
c.984A>T (p.Pro328=)
Xg.48688869C>ACA412873367WASn.385C>A
c.1141C>A (p.Leu381Met)
c.985C>A (p.Leu329Met)
 gnomAD v4
Xg.48688869C>GCA412873368WASn.385C>G
c.1141C>G (p.Leu381Val)
c.985C>G (p.Leu329Val)
Xg.48688869C>TCA516356267WASn.385C>T
c.1141C>T (p.Leu381=)
c.985C>T (p.Leu329=)
 gnomAD v4
Xg.48688870T>ACA412873370WASn.386T>A
c.1142T>A (p.Leu381Gln)
c.986T>A (p.Leu329Gln)
 gnomAD v4
Xg.48688870T>CCA412873371WASn.386T>C
c.1142T>C (p.Leu381Pro)
c.986T>C (p.Leu329Pro)
 gnomAD v4
Xg.48688870T>GCA412873372WASn.386T>G
c.1142T>G (p.Leu381Arg)
c.986T>G (p.Leu329Arg)
Xg.48688871delCA2695233780WASn.387del
c.1143del (p.Pro383LeufsTer?)
c.987del (p.Pro331LeufsTer?)
Xg.48688871G>ACA516356269WASn.387G>A
c.1143G>A (p.Leu381=)
c.987G>A (p.Leu329=)
Xg.48688871G>CCA516356270WASn.387G>C
c.1143G>C (p.Leu381=)
c.987G>C (p.Leu329=)
 gnomAD v4
Xg.48688871G>TCA516356271WASn.387G>T
c.1143G>T (p.Leu381=)
c.987G>T (p.Leu329=)
 gnomAD v4
Xg.48688872C>ACA412873373WASn.388C>A
c.1144C>A (p.Pro382Thr)
c.988C>A (p.Pro330Thr)
 dbSNP gnomAD v4
Xg.48688872C=CA2428355722WASn.388C=
c.1144C= (p.Pro382=)
c.988C= (p.Pro330=)
Xg.48688872C>GCA412873375WASn.388C>G
c.1144C>G (p.Pro382Ala)
c.988C>G (p.Pro330Ala)
Xg.48688872C>TCA412873374WASn.388C>T
c.1144C>T (p.Pro382Ser)
c.988C>T (p.Pro330Ser)
 gnomAD v4
Xg.48688876dupCA1139554019WASn.392dup
c.1148dup (p.Pro384SerfsTer?)
c.992dup (p.Pro332SerfsTer?)
Xg.48688876delCA2693644878WASn.392del
c.1148del (p.Pro383LeufsTer?)
c.992del (p.Pro331LeufsTer?)
 gnomAD v4
Xg.48688873C>ACA412873376WASn.389C>A
c.1145C>A (p.Pro382His)
c.989C>A (p.Pro330His)
 gnomAD v4
Xg.48688873C>GCA412873377WASn.389C>G
c.1145C>G (p.Pro382Arg)
c.989C>G (p.Pro330Arg)
Xg.48688873C>TCA412873378WASn.389C>T
c.1145C>T (p.Pro382Leu)
c.989C>T (p.Pro330Leu)
 gnomAD v4
Xg.48688874C>ACA516356275WASn.390C>A
c.1146C>A (p.Pro382=)
c.990C>A (p.Pro330=)
 gnomAD v4
Xg.48688874C>GCA516356276WASn.390C>G
c.1146C>G (p.Pro382=)
c.990C>G (p.Pro330=)
Xg.48688874C>TCA516356277WASn.390C>T
c.1146C>T (p.Pro382=)
c.990C>T (p.Pro330=)
 gnomAD v4 COSMIC
Xg.48688875C>ACA412873379WASn.391C>A
c.1147C>A (p.Pro383Thr)
c.991C>A (p.Pro331Thr)
 gnomAD v4
Xg.48688875C>GCA412873380WASn.391C>G
c.1147C>G (p.Pro383Ala)
c.991C>G (p.Pro331Ala)
Xg.48688875C>TCA412873381WASn.391C>T
c.1147C>T (p.Pro383Ser)
c.991C>T (p.Pro331Ser)
 gnomAD v4
Xg.48688876C>ACA412873382WASn.392C>A
c.1148C>A (p.Pro383His)
c.992C>A (p.Pro331His)
 gnomAD v4
Xg.48688876C>GCA412873383WASn.392C>G
c.1148C>G (p.Pro383Arg)
c.992C>G (p.Pro331Arg)
Xg.48688876C>TCA412873384WASn.392C>T
c.1148C>T (p.Pro383Leu)
c.992C>T (p.Pro331Leu)
 ClinVar gnomAD v4
Xg.48688877T>ACA516356281WASn.393T>A
c.1149T>A (p.Pro383=)
c.993T>A (p.Pro331=)
 ClinVar gnomAD v3 gnomAD v4
Xg.48688877T>CCA516356282WASn.393T>C
c.1149T>C (p.Pro383=)
c.993T>C (p.Pro331=)
 dbSNP gnomAD v4
Xg.48688877T>GCA516356283WASn.393T>G
c.1149T>G (p.Pro383=)
c.993T>G (p.Pro331=)
Xg.48688877T=CA2428355723WASn.393T=
c.1149T= (p.Pro383=)
c.993T= (p.Pro331=)
Xg.48688878C>ACA329102264WASn.394C>A
c.1150C>A (p.Pro384Thr)
c.994C>A (p.Pro332Thr)
 dbSNP gnomAD v4
Xg.48688878C=CA2428355724WASn.394C=
c.1150C= (p.Pro384=)
c.994C= (p.Pro332=)
Xg.48688878C>GCA412873385WASn.394C>G
c.1150C>G (p.Pro384Ala)
c.994C>G (p.Pro332Ala)
 gnomAD v4
Xg.48688878C>TCA10404041WASn.394C>T
c.1150C>T (p.Pro384Ser)
c.994C>T (p.Pro332Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688879dupCA2695233781WASn.395dup
c.1151dup (p.Pro385ThrfsTer?)
c.995dup (p.Pro333ThrfsTer?)
Xg.48688879delCA2693644902WASn.395del
c.1151del (p.Pro384HisfsTer?)
c.995del (p.Pro332HisfsTer?)
 gnomAD v4
Xg.48688879C>ACA412873389WASn.395C>A
c.1151C>A (p.Pro384Gln)
c.995C>A (p.Pro332Gln)
 gnomAD v4
Xg.48688879C>GCA412873387WASn.395C>G
c.1151C>G (p.Pro384Arg)
c.995C>G (p.Pro332Arg)
Xg.48688879C>TCA412873388WASn.395C>T
c.1151C>T (p.Pro384Leu)
c.995C>T (p.Pro332Leu)
Xg.48688880A=CA2428355726WASn.396A=
c.1152A= (p.Pro384=)
c.996A= (p.Pro332=)
Xg.48688880A>CCA516356288WASn.396A>C
c.1152A>C (p.Pro384=)
c.996A>C (p.Pro332=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688880A>GCA516356289WASn.396A>G
c.1152A>G (p.Pro384=)
c.996A>G (p.Pro332=)
 gnomAD v4
Xg.48688880A>TCA516356290WASn.396A>T
c.1152A>T (p.Pro384=)
c.996A>T (p.Pro332=)
Xg.48688880_48688881delinsACCA2428355725WASn.396_397delinsAC
c.1152_1153delinsAC (p.Pro384=)
c.996_997delinsAC (p.Pro332=)
Xg.48688881C>ACA412873390WASn.397C>A
c.1153C>A (p.Pro385Thr)
c.997C>A (p.Pro333Thr)
 gnomAD v4
Xg.48688881C=CA2428355727WASn.397C=
c.1153C= (p.Pro385=)
c.997C= (p.Pro333=)
Xg.48688881C>GCA412873391WASn.397C>G
c.1153C>G (p.Pro385Ala)
c.997C>G (p.Pro333Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688881C>TCA412873392WASn.397C>T
c.1153C>T (p.Pro385Ser)
c.997C>T (p.Pro333Ser)
 gnomAD v4
Xg.48688885dupCA10603599WASn.401dup
c.1157dup (p.Gly387TrpfsTer?)
c.1001dup (p.Gly335TrpfsTer?)
 ClinVar dbSNP gnomAD v4
Xg.48688885delCA1139667532WASn.401del
c.1157del (p.Pro386LeufsTer?)
c.1001del (p.Pro334LeufsTer?)
 ClinVar dbSNP gnomAD v4
Xg.48688882C>ACA412873393WASn.398C>A
c.1154C>A (p.Pro385His)
c.998C>A (p.Pro333His)
 gnomAD v4
Xg.48688882C=CA2428355728WASn.398C=
c.1154C= (p.Pro385=)
c.998C= (p.Pro333=)
Xg.48688882C>GCA412873394WASn.398C>G
c.1154C>G (p.Pro385Arg)
c.998C>G (p.Pro333Arg)
 gnomAD v4
Xg.48688882C>TCA412873395WASn.398C>T
c.1154C>T (p.Pro385Leu)
c.998C>T (p.Pro333Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.48688883C>ACA516356295WASn.399C>A
c.1155C>A (p.Pro385=)
c.999C>A (p.Pro333=)
 gnomAD v4
Xg.48688883C=CA2428355729WASn.399C=
c.1155C= (p.Pro385=)
c.999C= (p.Pro333=)
Xg.48688883C>GCA516356294WASn.399C>G
c.1155C>G (p.Pro385=)
c.999C>G (p.Pro333=)
Xg.48688883C>TCA10404042WASn.399C>T
c.1155C>T (p.Pro385=)
c.999C>T (p.Pro333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688884C>ACA412873396WASn.400C>A
c.1156C>A (p.Pro386Thr)
c.1000C>A (p.Pro334Thr)
 gnomAD v4
Xg.48688884C=CA2428355730WASn.400C=
c.1156C= (p.Pro386=)
c.1000C= (p.Pro334=)
Xg.48688884C>GCA412873397WASn.400C>G
c.1156C>G (p.Pro386Ala)
c.1000C>G (p.Pro334Ala)
 gnomAD v4
Xg.48688884C>TCA329102302WASn.400C>T
c.1156C>T (p.Pro386Ser)
c.1000C>T (p.Pro334Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.48688885C>ACA412873400WASn.401C>A
c.1157C>A (p.Pro386His)
c.1001C>A (p.Pro334His)
 dbSNP gnomAD v4
Xg.48688885C=CA2428355731WASn.401C=
c.1157C= (p.Pro386=)
c.1001C= (p.Pro334=)
Xg.48688885C>GCA412873399WASn.401C>G
c.1157C>G (p.Pro386Arg)
c.1001C>G (p.Pro334Arg)
Xg.48688885C>TCA412873398WASn.401C>T
c.1157C>T (p.Pro386Leu)
c.1001C>T (p.Pro334Leu)
 gnomAD v4
Xg.48688886delCA2695233782WASn.402del
c.1158del (p.Gly387GlufsTer?)
c.1002del (p.Gly335GlufsTer?)
Xg.48688886T>ACA516356301WASn.402T>A
c.1158T>A (p.Pro386=)
c.1002T>A (p.Pro334=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688886T>CCA516356300WASn.402T>C
c.1158T>C (p.Pro386=)
c.1002T>C (p.Pro334=)
 dbSNP gnomAD v4
Xg.48688886T>GCA516356299WASn.402T>G
c.1158T>G (p.Pro386=)
c.1002T>G (p.Pro334=)
Xg.48688886T=CA2428355732WASn.402T=
c.1158T= (p.Pro386=)
c.1002T= (p.Pro334=)
Xg.48688887G>ACA412873401WASn.403G>A
c.1159G>A (p.Gly387Arg)
c.1003G>A (p.Gly335Arg)
 gnomAD v4
Xg.48688887G>CCA412873403WASn.403G>C
c.1159G>C (p.Gly387Arg)
c.1003G>C (p.Gly335Arg)
Xg.48688887G>TCA412873405WASn.403G>T
c.1159G>T (p.Gly387Ter)
c.1003G>T (p.Gly335Ter)
 gnomAD v4
Xg.48688888G>ACA412873406WASn.404G>A
c.1160G>A (p.Gly387Glu)
c.1004G>A (p.Gly335Glu)
 gnomAD v4
Xg.48688888G>CCA412873407WASn.404G>C
c.1160G>C (p.Gly387Ala)
c.1004G>C (p.Gly335Ala)
Xg.48688888G>TCA412873408WASn.404G>T
c.1160G>T (p.Gly387Val)
c.1004G>T (p.Gly335Val)
 gnomAD v4
Xg.48688889A=CA2428355733WASn.405A=
c.1161A= (p.Gly387=)
c.1005A= (p.Gly335=)
Xg.48688889A>CCA516356305WASn.405A>C
c.1161A>C (p.Gly387=)
c.1005A>C (p.Gly335=)
Xg.48688889A>GCA516356306WASn.405A>G
c.1161A>G (p.Gly387=)
c.1005A>G (p.Gly335=)
Xg.48688889A>TCA329102333WASn.405A>T
c.1161A>T (p.Gly387=)
c.1005A>T (p.Gly335=)
 dbSNP
Xg.48688890G>ACA412873411WASn.406G>A
c.1162G>A (p.Ala388Thr)
c.1006G>A (p.Ala336Thr)
 gnomAD v4
Xg.48688890G>CCA412873410WASn.406G>C
c.1162G>C (p.Ala388Pro)
c.1006G>C (p.Ala336Pro)
Xg.48688890G>TCA412873409WASn.406G>T
c.1162G>T (p.Ala388Ser)
c.1006G>T (p.Ala336Ser)
 gnomAD v4
Xg.48688891C>ACA412873412WASn.407C>A
c.1163C>A (p.Ala388Asp)
c.1007C>A (p.Ala336Asp)
 gnomAD v4
Xg.48688891C>GCA412873413WASn.407C>G
c.1163C>G (p.Ala388Gly)
c.1007C>G (p.Ala336Gly)
 gnomAD v4
Xg.48688891C>TCA412873414WASn.407C>T
c.1163C>T (p.Ala388Val)
c.1007C>T (p.Ala336Val)
 gnomAD v4
Xg.48688892T>ACA516356310WASn.408T>A
c.1164T>A (p.Ala388=)
c.1008T>A (p.Ala336=)
Xg.48688892T>CCA516356311WASn.408T>C
c.1164T>C (p.Ala388=)
c.1008T>C (p.Ala336=)
 gnomAD v4
Xg.48688892T>GCA516356312WASn.408T>G
c.1164T>G (p.Ala388=)
c.1008T>G (p.Ala336=)
Xg.48688893G>ACA412873415WASn.409G>A
c.1165G>A (p.Gly389Ser)
c.1009G>A (p.Gly337Ser)
 gnomAD v4
Xg.48688893G>CCA412873416WASn.409G>C
c.1165G>C (p.Gly389Arg)
c.1009G>C (p.Gly337Arg)
Xg.48688893G>TCA412873417WASn.409G>T
c.1165G>T (p.Gly389Cys)
c.1009G>T (p.Gly337Cys)
 gnomAD v4
Xg.48688894G>ACA412873418WASn.410G>A
c.1166G>A (p.Gly389Asp)
c.1010G>A (p.Gly337Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688894G>CCA412873420WASn.410G>C
c.1166G>C (p.Gly389Ala)
c.1010G>C (p.Gly337Ala)
Xg.48688894G=CA2428355734WASn.410G=
c.1166G= (p.Gly389=)
c.1010G= (p.Gly337=)
Xg.48688894G>TCA412873419WASn.410G>T
c.1166G>T (p.Gly389Val)
c.1010G>T (p.Gly337Val)
 gnomAD v4
Xg.48688895T>ACA516356316WASn.411T>A
c.1167T>A (p.Gly389=)
c.1011T>A (p.Gly337=)
 gnomAD v4
Xg.48688895T>CCA516356317WASn.411T>C
c.1167T>C (p.Gly389=)
c.1011T>C (p.Gly337=)
 gnomAD v4
Xg.48688895T>GCA516356318WASn.411T>G
c.1167T>G (p.Gly389=)
c.1011T>G (p.Gly337=)
Xg.48688896G>ACA412873421WASn.412G>A
c.1168G>A (p.Gly390Arg)
c.1012G>A (p.Gly338Arg)
Xg.48688896G>CCA412873422WASn.412G>C
c.1168G>C (p.Gly390Arg)
c.1012G>C (p.Gly338Arg)
Xg.48688896G>TCA412873423WASn.412G>T
c.1168G>T (p.Gly390Trp)
c.1012G>T (p.Gly338Trp)
 gnomAD v4
Xg.48688897G>ACA412873424WASn.413G>A
c.1169G>A (p.Gly390Glu)
c.1013G>A (p.Gly338Glu)
 gnomAD v4
Xg.48688897G>CCA412873425WASn.413G>C
c.1169G>C (p.Gly390Ala)
c.1013G>C (p.Gly338Ala)
Xg.48688897G>TCA412873426WASn.413G>T
c.1169G>T (p.Gly390Val)
c.1013G>T (p.Gly338Val)
 gnomAD v4
Xg.48688898G>ACA516356320WASn.414G>A
c.1170G>A (p.Gly390=)
c.1014G>A (p.Gly338=)
 dbSNP gnomAD v4
Xg.48688898G>CCA516356321WASn.414G>C
c.1170G>C (p.Gly390=)
c.1014G>C (p.Gly338=)
Xg.48688898G=CA2428355735WASn.414G=
c.1170G= (p.Gly390=)
c.1014G= (p.Gly338=)
Xg.48688898G>TCA516356322WASn.414G>T
c.1170G>T (p.Gly390=)
c.1014G>T (p.Gly338=)
Xg.48688899C>ACA412873427WASn.415C>A
c.1171C>A (p.Pro391Thr)
c.1015C>A (p.Pro339Thr)
 gnomAD v4
Xg.48688899C>GCA412873428WASn.415C>G
c.1171C>G (p.Pro391Ala)
c.1015C>G (p.Pro339Ala)
Xg.48688899C>TCA412873429WASn.415C>T
c.1171C>T (p.Pro391Ser)
c.1015C>T (p.Pro339Ser)
 gnomAD v4
Xg.48688901_48688903delCA2499214011WASn.417_419del
c.1173_1175del (p.Pro392del)
c.1017_1019del (p.Pro340del)
 gnomAD v4
Xg.48688900C>ACA412873430WASn.416C>A
c.1172C>A (p.Pro391Gln)
c.1016C>A (p.Pro339Gln)
Xg.48688900C=CA2428355736WASn.416C=
c.1172C= (p.Pro391=)
c.1016C= (p.Pro339=)
Xg.48688900C>GCA412873431WASn.416C>G
c.1172C>G (p.Pro391Arg)
c.1016C>G (p.Pro339Arg)
Xg.48688900C>TCA412873432WASn.416C>T
c.1172C>T (p.Pro391Leu)
c.1016C>T (p.Pro339Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688901A>CCA516356326WASn.417A>C
c.1173A>C (p.Pro391=)
c.1017A>C (p.Pro339=)
 dbSNP
Xg.48688901A>GCA516356327WASn.417A>G
c.1173A>G (p.Pro391=)
c.1017A>G (p.Pro339=)
Xg.48688901A>TCA516356328WASn.417A>T
c.1173A>T (p.Pro391=)
c.1017A>T (p.Pro339=)
Xg.48688902C>ACA329102334WASn.418C>A
c.1174C>A (p.Pro392Thr)
c.1018C>A (p.Pro340Thr)
 ClinVar dbSNP gnomAD v4
Xg.48688902C=CA2428355737WASn.418C=
c.1174C= (p.Pro392=)
c.1018C= (p.Pro340=)
Xg.48688902C>GCA412873434WASn.418C>G
c.1174C>G (p.Pro392Ala)
c.1018C>G (p.Pro340Ala)
Xg.48688902C>TCA412873433WASn.418C>T
c.1174C>T (p.Pro392Ser)
c.1018C>T (p.Pro340Ser)
 gnomAD v4
Xg.48688904delCA2693644932WASn.420del
c.1176del (p.Met393CysfsTer?)
c.1020del (p.Met341CysfsTer?)
 gnomAD v4
Xg.48688903C>ACA412873435WASn.419C>A
c.1175C>A (p.Pro392His)
c.1019C>A (p.Pro340His)
 gnomAD v4
Xg.48688903C=CA2428355738WASn.419C=
c.1175C= (p.Pro392=)
c.1019C= (p.Pro340=)
Xg.48688903C>GCA412873437WASn.419C>G
c.1175C>G (p.Pro392Arg)
c.1019C>G (p.Pro340Arg)
 gnomAD v4
Xg.48688903C>TCA10404043WASn.419C>T
c.1175C>T (p.Pro392Leu)
c.1019C>T (p.Pro340Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688904C>ACA516356332WASn.420C>A
c.1176C>A (p.Pro392=)
c.1020C>A (p.Pro340=)
Xg.48688904C>GCA516356333WASn.420C>G
c.1176C>G (p.Pro392=)
c.1020C>G (p.Pro340=)
Xg.48688904C>TCA516356331WASn.420C>T
c.1176C>T (p.Pro392=)
c.1020C>T (p.Pro340=)
Xg.48688905A>CCA412873438WASn.421A>C
c.1177A>C (p.Met393Leu)
c.1021A>C (p.Met341Leu)
 dbSNP
Xg.48688905A>GCA412873439WASn.421A>G
c.1177A>G (p.Met393Val)
c.1021A>G (p.Met341Val)
Xg.48688905A>TCA412873440WASn.421A>T
c.1177A>T (p.Met393Leu)
c.1021A>T (p.Met341Leu)
Xg.48688906T>ACA412873441WASn.422T>A
c.1178T>A (p.Met393Lys)
c.1022T>A (p.Met341Lys)
Xg.48688906T>CCA412873442WASn.422T>C
c.1178T>C (p.Met393Thr)
c.1022T>C (p.Met341Thr)
Xg.48688906T>GCA412873443WASn.422T>G
c.1178T>G (p.Met393Arg)
c.1022T>G (p.Met341Arg)
Xg.48688906dupCA2695233783WASn.422dup
c.1178dup (p.Met393IlefsTer?)
c.1022dup (p.Met341IlefsTer?)
Xg.48688907G>ACA412873444WASn.423G>A
c.1179G>A (p.Met393Ile)
c.1023G>A (p.Met341Ile)
 gnomAD v4
Xg.48688907G>CCA412873445WASn.423G>C
c.1179G>C (p.Met393Ile)
c.1023G>C (p.Met341Ile)
 gnomAD v4
Xg.48688907G=CA2428355740WASn.423G=
c.1179G= (p.Met393=)
c.1023G= (p.Met341=)
Xg.48688907G>TCA412873446WASn.423G>T
c.1179G>T (p.Met393Ile)
c.1023G>T (p.Met341Ile)
 gnomAD v4
Xg.48688907_48688912dupCA2693644933WASn.423_428dup
c.1179_1184dup (p.Pro395_Pro396insProPro)
c.1023_1028dup (p.Pro343_Pro344insProPro)
 gnomAD v4
Xg.48688907_48688915dupCA2740092136WASn.423_431dup
c.1179_1187dup (p.Pro396_Pro397insProProPro)
c.1023_1031dup (p.Pro344_Pro345insProProPro)
 ClinVar
Xg.48688907_48688916delinsGCCACCACCACA2428355739WASn.423_432delinsGCCACCACCA
c.1179_1188delinsGCCACCACCA (p.Met393=)
c.1023_1032delinsGCCACCACCA (p.Met341=)
Xg.48688916_48688927dupCA2693644934WASn.432_443dup
c.1188_1199dup (p.Pro400_Pro401insProProProPro)
c.1032_1043dup (p.Pro348_Pro349insProProProPro)
 gnomAD v4
Xg.48688916_48688927delCA2695233784WASn.432_443del
c.1188_1199del (p.Pro397_Pro400del)
c.1032_1043del (p.Pro345_Pro348del)
Xg.48688908C>ACA412873449WASn.424C>A
c.1180C>A (p.Pro394Thr)
c.1024C>A (p.Pro342Thr)
 gnomAD v4
Xg.48688908C=CA2428355741WASn.424C=
c.1180C= (p.Pro394=)
c.1024C= (p.Pro342=)
Xg.48688908C>GCA412873447WASn.424C>G
c.1180C>G (p.Pro394Ala)
c.1024C>G (p.Pro342Ala)
Xg.48688908C>TCA412873448WASn.424C>T
c.1180C>T (p.Pro394Ser)
c.1024C>T (p.Pro342Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688909_48688910insTCCCA2428355742WASn.425_426insTCC
c.1181_1182insTCC (p.Pro394_Pro395insPro)
c.1025_1026insTCC (p.Pro342_Pro343insPro)
 dbSNP
Xg.48688910_48688918dupCA2428355744WASn.426_434dup
c.1182_1190dup (p.Pro397_Pro398insProProPro)
c.1026_1034dup (p.Pro345_Pro346insProProPro)
 dbSNP gnomAD v4
Xg.48688916_48688918delCA641901768WASn.432_434del
c.1188_1190del (p.Pro397del)
c.1032_1034del (p.Pro345del)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688910_48688918delCA2428355743WASn.426_434del
c.1182_1190del (p.Pro395_Pro397del)
c.1026_1034del (p.Pro343_Pro345del)
 dbSNP gnomAD v4
Xg.48688913_48688927delCA516356337WASn.429_443del
c.1185_1199del (p.Pro396_Pro400del)
c.1029_1043del (p.Pro344_Pro348del)
Xg.48688909C>ACA412873450WASn.425C>A
c.1181C>A (p.Pro394Gln)
c.1025C>A (p.Pro342Gln)
 gnomAD v4
Xg.48688909C=CA2428355745WASn.425C=
c.1181C= (p.Pro394=)
c.1025C= (p.Pro342=)
Xg.48688909C>GCA412873451WASn.425C>G
c.1181C>G (p.Pro394Arg)
c.1025C>G (p.Pro342Arg)
Xg.48688909C>TCA10404044WASn.425C>T
c.1181C>T (p.Pro394Leu)
c.1025C>T (p.Pro342Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688910A=CA2428355747WASn.426A=
c.1182A= (p.Pro394=)
c.1026A= (p.Pro342=)
Xg.48688910A>CCA516356342WASn.426A>C
c.1182A>C (p.Pro394=)
c.1026A>C (p.Pro342=)
 dbSNP
Xg.48688910A>GCA516356343WASn.426A>G
c.1182A>G (p.Pro394=)
c.1026A>G (p.Pro342=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688910A>TCA516356344WASn.426A>T
c.1182A>T (p.Pro394=)
c.1026A>T (p.Pro342=)
Xg.48688910_48688919delinsACCACCACCGCA2428355746WASn.426_435delinsACCACCACCG
c.1182_1191delinsACCACCACCG (p.Pro394=)
c.1026_1035delinsACCACCACCG (p.Pro342=)
Xg.48688911C>ACA412873452WASn.427C>A
c.1183C>A (p.Pro395Thr)
c.1027C>A (p.Pro343Thr)
Xg.48688911C=CA2428355748WASn.427C=
c.1183C= (p.Pro395=)
c.1027C= (p.Pro343=)
Xg.48688911C>GCA412873453WASn.427C>G
c.1183C>G (p.Pro395Ala)
c.1027C>G (p.Pro343Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688911C>TCA412873454WASn.427C>T
c.1183C>T (p.Pro395Ser)
c.1027C>T (p.Pro343Ser)
 gnomAD v4
Xg.48688911_48688918dupCA16043275WASn.427_434dup
c.1183_1190dup (p.Pro398HisfsTer?)
c.1027_1034dup (p.Pro346HisfsTer?)
 ClinVar dbSNP
Xg.48688925_48688933dupCA10404045WASn.441_449dup
c.1197_1205dup (p.Pro402_Pro403insProProPro)
c.1041_1049dup (p.Pro350_Pro351insProProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688925_48688933delCA342890WASn.441_449del
c.1197_1205del (p.Pro400_Pro402del)
c.1041_1049del (p.Pro348_Pro350del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688912C>ACA412873455WASn.428C>A
c.1184C>A (p.Pro395Gln)
c.1028C>A (p.Pro343Gln)
 gnomAD v4
Xg.48688912C>GCA412873456WASn.428C>G
c.1184C>G (p.Pro395Arg)
c.1028C>G (p.Pro343Arg)
Xg.48688912C>TCA412873457WASn.428C>T
c.1184C>T (p.Pro395Leu)
c.1028C>T (p.Pro343Leu)
 gnomAD v4
Xg.48688913delCA2738505179WASn.429del
c.1185del (p.Pro396HisfsTer?)
c.1029del (p.Pro344HisfsTer?)
 dbSNP
Xg.48688913A>CCA516356351WASn.429A>C
c.1185A>C (p.Pro395=)
c.1029A>C (p.Pro343=)
 dbSNP
Xg.48688913A>GCA516356352WASn.429A>G
c.1185A>G (p.Pro395=)
c.1029A>G (p.Pro343=)
Xg.48688913A>TCA516356353WASn.429A>T
c.1185A>T (p.Pro395=)
c.1029A>T (p.Pro343=)
 gnomAD v4
Xg.48688914C>ACA412873460WASn.430C>A
c.1186C>A (p.Pro396Thr)
c.1030C>A (p.Pro344Thr)
 gnomAD v4
Xg.48688914C>GCA412873458WASn.430C>G
c.1186C>G (p.Pro396Ala)
c.1030C>G (p.Pro344Ala)
Xg.48688914C>TCA412873459WASn.430C>T
c.1186C>T (p.Pro396Ser)
c.1030C>T (p.Pro344Ser)
 gnomAD v4
Xg.48688922_48688936delCA2693644960WASn.438_452del
c.1194_1208del (p.Pro399_Pro403del)
c.1038_1052del (p.Pro347_Pro351del)
 gnomAD v4
Xg.48688915C>ACA412873461WASn.431C>A
c.1187C>A (p.Pro396Gln)
c.1031C>A (p.Pro344Gln)
 ClinVar gnomAD v4
Xg.48688915C=CA2428355749WASn.431C=
c.1187C= (p.Pro396=)
c.1031C= (p.Pro344=)
Xg.48688915C>GCA412873462WASn.431C>G
c.1187C>G (p.Pro396Arg)
c.1031C>G (p.Pro344Arg)
Xg.48688915C>TCA412873463WASn.431C>T
c.1187C>T (p.Pro396Leu)
c.1031C>T (p.Pro344Leu)
 dbSNP gnomAD v2
Xg.48688916A=CA2428355750WASn.432A=
c.1188A= (p.Pro396=)
c.1032A= (p.Pro344=)
Xg.48688916A>CCA516356357WASn.432A>C
c.1188A>C (p.Pro396=)
c.1032A>C (p.Pro344=)
 ClinVar dbSNP
Xg.48688916A>GCA516356358WASn.432A>G
c.1188A>G (p.Pro396=)
c.1032A>G (p.Pro344=)
 gnomAD v4
Xg.48688916A>TCA516356359WASn.432A>T
c.1188A>T (p.Pro396=)
c.1032A>T (p.Pro344=)
Xg.48688917C>ACA412873464WASn.433C>A
c.1189C>A (p.Pro397Thr)
c.1033C>A (p.Pro345Thr)
 gnomAD v4
Xg.48688917C>GCA412873466WASn.433C>G
c.1189C>G (p.Pro397Ala)
c.1033C>G (p.Pro345Ala)
Xg.48688917C>TCA412873465WASn.433C>T
c.1189C>T (p.Pro397Ser)
c.1033C>T (p.Pro345Ser)
 gnomAD v4
Xg.48688918delCA2695233785WASn.434del
c.1190del (p.Pro397ArgfsTer?)
c.1034del (p.Pro345ArgfsTer?)
Xg.48688918C>ACA412873467WASn.434C>A
c.1190C>A (p.Pro397Gln)
c.1034C>A (p.Pro345Gln)
 gnomAD v4
Xg.48688918C=CA2428355751WASn.434C=
c.1190C= (p.Pro397=)
c.1034C= (p.Pro345=)
Xg.48688918C>GCA412873468WASn.434C>G
c.1190C>G (p.Pro397Arg)
c.1034C>G (p.Pro345Arg)
Xg.48688918C>TCA412873469WASn.434C>T
c.1190C>T (p.Pro397Leu)
c.1034C>T (p.Pro345Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>ACA10404046WASn.435G>A
c.1191G>A (p.Pro397=)
c.1035G>A (p.Pro345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688919G>CCA516356363WASn.435G>C
c.1191G>C (p.Pro397=)
c.1035G>C (p.Pro345=)
 ClinVar dbSNP gnomAD v4
Xg.48688919G=CA2428355752WASn.435G=
c.1191G= (p.Pro397=)
c.1035G= (p.Pro345=)
Xg.48688919G>TCA516356364WASn.435G>T
c.1191G>T (p.Pro397=)
c.1035G>T (p.Pro345=)
 gnomAD v4
Xg.48688920C>ACA412873470WASn.436C>A
c.1192C>A (p.Pro398Thr)
c.1036C>A (p.Pro346Thr)
 gnomAD v4
Xg.48688920C>GCA412873471WASn.436C>G
c.1192C>G (p.Pro398Ala)
c.1036C>G (p.Pro346Ala)
Xg.48688920C>TCA412873472WASn.436C>T
c.1192C>T (p.Pro398Ser)
c.1036C>T (p.Pro346Ser)
Xg.48688921C>ACA412873473WASn.437C>A
c.1193C>A (p.Pro398Gln)
c.1037C>A (p.Pro346Gln)
 gnomAD v4
Xg.48688921C>GCA412873474WASn.437C>G
c.1193C>G (p.Pro398Arg)
c.1037C>G (p.Pro346Arg)
Xg.48688921C>TCA412873475WASn.437C>T
c.1193C>T (p.Pro398Leu)
c.1037C>T (p.Pro346Leu)
Xg.48688922A=CA2428355753WASn.438A=
c.1194A= (p.Pro398=)
c.1038A= (p.Pro346=)
Xg.48688922A>CCA516356369WASn.438A>C
c.1194A>C (p.Pro398=)
c.1038A>C (p.Pro346=)
 dbSNP gnomAD v4
Xg.48688922A>GCA10404047WASn.438A>G
c.1194A>G (p.Pro398=)
c.1038A>G (p.Pro346=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688922A>TCA516356370WASn.438A>T
c.1194A>T (p.Pro398=)
c.1038A>T (p.Pro346=)
Xg.48688923C>ACA412873476WASn.439C>A
c.1195C>A (p.Pro399Thr)
c.1039C>A (p.Pro347Thr)
Xg.48688923C>GCA412873478WASn.439C>G
c.1195C>G (p.Pro399Ala)
c.1039C>G (p.Pro347Ala)
Xg.48688923C>TCA412873477WASn.439C>T
c.1195C>T (p.Pro399Ser)
c.1039C>T (p.Pro347Ser)
 gnomAD v4
Xg.48688931_48688936dupCA2693644986WASn.447_452dup
c.1203_1208dup (p.Pro403_Pro404insProPro)
c.1047_1052dup (p.Pro351_Pro352insProPro)
 gnomAD v4
Xg.48688931_48688936delCA2693644988WASn.447_452del
c.1203_1208del (p.Pro402_Pro403del)
c.1047_1052del (p.Pro350_Pro351del)
 gnomAD v4
Xg.48688924C>ACA412873479WASn.440C>A
c.1196C>A (p.Pro399Gln)
c.1040C>A (p.Pro347Gln)
Xg.48688924C=CA2428355754WASn.440C=
c.1196C= (p.Pro399=)
c.1040C= (p.Pro347=)
Xg.48688924C>GCA412873480WASn.440C>G
c.1196C>G (p.Pro399Arg)
c.1040C>G (p.Pro347Arg)
 ClinVar dbSNP
Xg.48688924C>TCA412873481WASn.440C>T
c.1196C>T (p.Pro399Leu)
c.1040C>T (p.Pro347Leu)
Xg.48688925A=CA2428355755WASn.441A=
c.1197A= (p.Pro399=)
c.1041A= (p.Pro347=)
Xg.48688925A>CCA516356374WASn.441A>C
c.1197A>C (p.Pro399=)
c.1041A>C (p.Pro347=)
 dbSNP gnomAD v3 gnomAD v4
Xg.48688925A>GCA516356375WASn.441A>G
c.1197A>G (p.Pro399=)
c.1041A>G (p.Pro347=)
 ClinVar dbSNP gnomAD v4
Xg.48688925A>TCA516356376WASn.441A>T
c.1197A>T (p.Pro399=)
c.1041A>T (p.Pro347=)
Xg.48688926C>ACA412873482WASn.442C>A
c.1198C>A (p.Pro400Thr)
c.1042C>A (p.Pro348Thr)
Xg.48688926C=CA2428355757WASn.442C=
c.1198C= (p.Pro400=)
c.1042C= (p.Pro348=)
Xg.48688926C>GCA412873483WASn.442C>G
c.1198C>G (p.Pro400Ala)
c.1042C>G (p.Pro348Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688926C>TCA412873484WASn.442C>T
c.1198C>T (p.Pro400Ser)
c.1042C>T (p.Pro348Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688931_48688939dupCA2428355756WASn.447_455dup
c.1203_1211dup (p.Pro404_Ser405insProProPro)
c.1047_1055dup (p.Pro352_Ser353insProProPro)
 ClinVar dbSNP gnomAD v4
Xg.48688927C>ACA412873485WASn.443C>A
c.1199C>A (p.Pro400Gln)
c.1043C>A (p.Pro348Gln)
Xg.48688927C=CA2428355758WASn.443C=
c.1199C= (p.Pro400=)
c.1043C= (p.Pro348=)
Xg.48688927C>GCA412873486WASn.443C>G
c.1199C>G (p.Pro400Arg)
c.1043C>G (p.Pro348Arg)
Xg.48688927C>TCA10404048WASn.443C>T
c.1199C>T (p.Pro400Leu)
c.1043C>T (p.Pro348Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688928G>ACA10404049WASn.444G>A
c.1200G>A (p.Pro400=)
c.1044G>A (p.Pro348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688928G>CCA516356380WASn.444G>C
c.1200G>C (p.Pro400=)
c.1044G>C (p.Pro348=)
 dbSNP
Xg.48688928G=CA2428355759WASn.444G=
c.1200G= (p.Pro400=)
c.1044G= (p.Pro348=)
Xg.48688928G>TCA516356381WASn.444G>T
c.1200G>T (p.Pro400=)
c.1044G>T (p.Pro348=)
Xg.48688929C>ACA412873487WASn.445C>A
c.1201C>A (p.Pro401Thr)
c.1045C>A (p.Pro349Thr)
Xg.48688929C>GCA412873489WASn.445C>G
c.1201C>G (p.Pro401Ala)
c.1045C>G (p.Pro349Ala)
Xg.48688929C>TCA412873488WASn.445C>T
c.1201C>T (p.Pro401Ser)
c.1045C>T (p.Pro349Ser)
Xg.48688932_48688941delCA2695233786WASn.448_457del
c.1204_1213del (p.Pro402AlafsTer?)
c.1048_1057del (p.Pro350AlafsTer?)
Xg.48688930C>ACA412873490WASn.446C>A
c.1202C>A (p.Pro401Gln)
c.1046C>A (p.Pro349Gln)
 gnomAD v4
Xg.48688930C>GCA412873491WASn.446C>G
c.1202C>G (p.Pro401Arg)
c.1046C>G (p.Pro349Arg)
Xg.48688930C>TCA412873492WASn.446C>T
c.1202C>T (p.Pro401Leu)
c.1046C>T (p.Pro349Leu)
Xg.48688931delCA2580101064WASn.447del
c.1203del (p.Pro402ArgfsTer?)
c.1047del (p.Pro350ArgfsTer?)
 ClinVar
Xg.48688931A=CA2428355760WASn.447A=
c.1203A= (p.Pro401=)
c.1047A= (p.Pro349=)
Xg.48688931A>CCA516356384WASn.447A>C
c.1203A>C (p.Pro401=)
c.1047A>C (p.Pro349=)
 dbSNP
Xg.48688931A>GCA10404050WASn.447A>G
c.1203A>G (p.Pro401=)
c.1047A>G (p.Pro349=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688931A>TCA516356385WASn.447A>T
c.1203A>T (p.Pro401=)
c.1047A>T (p.Pro349=)
Xg.48688932C>ACA412873493WASn.448C>A
c.1204C>A (p.Pro402Thr)
c.1048C>A (p.Pro350Thr)
Xg.48688932C>GCA412873494WASn.448C>G
c.1204C>G (p.Pro402Ala)
c.1048C>G (p.Pro350Ala)
Xg.48688932C>TCA412873495WASn.448C>T
c.1204C>T (p.Pro402Ser)
c.1048C>T (p.Pro350Ser)
Xg.48688934_48688939dupCA2693645009WASn.450_455dup
c.1206_1211dup (p.Pro404_Ser405insProPro)
c.1050_1055dup (p.Pro352_Ser353insProPro)
 gnomAD v4
Xg.48688934_48688939delCA2579600725WASn.450_455del
c.1206_1211del (p.Pro403_Pro404del)
c.1050_1055del (p.Pro351_Pro352del)
Xg.48688933C>ACA412873496WASn.449C>A
c.1205C>A (p.Pro402Gln)
c.1049C>A (p.Pro350Gln)
Xg.48688933C=CA2428355761WASn.449C=
c.1205C= (p.Pro402=)
c.1049C= (p.Pro350=)
Xg.48688933C>GCA412873497WASn.449C>G
c.1205C>G (p.Pro402Arg)
c.1049C>G (p.Pro350Arg)
Xg.48688933C>TCA412873498WASn.449C>T
c.1205C>T (p.Pro402Leu)
c.1049C>T (p.Pro350Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48688934G>ACA516356389WASn.450G>A
c.1206G>A (p.Pro402=)
c.1050G>A (p.Pro350=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688934G>CCA516356390WASn.450G>C
c.1206G>C (p.Pro402=)
c.1050G>C (p.Pro350=)
 dbSNP
Xg.48688934G=CA2428355762WASn.450G=
c.1206G= (p.Pro402=)
c.1050G= (p.Pro350=)
Xg.48688934G>TCA516356391WASn.450G>T
c.1206G>T (p.Pro402=)
c.1050G>T (p.Pro350=)
Xg.48688935C>ACA412873499WASn.451C>A
c.1207C>A (p.Pro403Thr)
c.1051C>A (p.Pro351Thr)
 gnomAD v4
Xg.48688935C>GCA412873500WASn.451C>G
c.1207C>G (p.Pro403Ala)
c.1051C>G (p.Pro351Ala)
Xg.48688935C>TCA412873501WASn.451C>T
c.1207C>T (p.Pro403Ser)
c.1051C>T (p.Pro351Ser)
Xg.48688936C>ACA412873502WASn.452C>A
c.1208C>A (p.Pro403Gln)
c.1052C>A (p.Pro351Gln)
 gnomAD v4
Xg.48688936C=CA2428355763WASn.452C=
c.1208C= (p.Pro403=)
c.1052C= (p.Pro351=)
Xg.48688936C>GCA412873503WASn.452C>G
c.1208C>G (p.Pro403Arg)
c.1052C>G (p.Pro351Arg)
Xg.48688936C>TCA10404051WASn.452C>T
c.1208C>T (p.Pro403Leu)
c.1052C>T (p.Pro351Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688937G>ACA10404052WASn.453G>A
c.1209G>A (p.Pro403=)
c.1053G>A (p.Pro351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688937G>CCA516356395WASn.453G>C
c.1209G>C (p.Pro403=)
c.1053G>C (p.Pro351=)
 dbSNP
Xg.48688937G=CA2428355764WASn.453G=
c.1209G= (p.Pro403=)
c.1053G= (p.Pro351=)
Xg.48688937G>TCA516356396WASn.453G>T
c.1209G>T (p.Pro403=)
c.1053G>T (p.Pro351=)
Xg.48688938C>ACA412873504WASn.454C>A
c.1210C>A (p.Pro404Thr)
c.1054C>A (p.Pro352Thr)
Xg.48688938C>GCA412873505WASn.454C>G
c.1210C>G (p.Pro404Ala)
c.1054C>G (p.Pro352Ala)
Xg.48688938C>TCA412873506WASn.454C>T
c.1210C>T (p.Pro404Ser)
c.1054C>T (p.Pro352Ser)
Xg.48688939C>ACA412873507WASn.455C>A
c.1211C>A (p.Pro404His)
c.1055C>A (p.Pro352His)
Xg.48688939C=CA2428355765WASn.455C=
c.1211C= (p.Pro404=)
c.1055C= (p.Pro352=)
Xg.48688939C>GCA412873508WASn.455C>G
c.1211C>G (p.Pro404Arg)
c.1055C>G (p.Pro352Arg)
 gnomAD v4
Xg.48688939C>TCA412873509WASn.455C>T
c.1211C>T (p.Pro404Leu)
c.1055C>T (p.Pro352Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688939_48688940insGCCA2695233787WASn.455_456insGC
c.1211_1212insGC (p.Ser405ProfsTer?)
c.1055_1056insGC (p.Ser353ProfsTer?)
Xg.48688940C>ACA516356402WASn.456C>A
c.1212C>A (p.Pro404=)
c.1056C>A (p.Pro352=)
Xg.48688940C>GCA516356401WASn.456C>G
c.1212C>G (p.Pro404=)
c.1056C>G (p.Pro352=)
Xg.48688940C>TCA516356400WASn.456C>T
c.1212C>T (p.Pro404=)
c.1056C>T (p.Pro352=)
Xg.48688941A>CCA412873510WASn.457A>C
c.1213A>C (p.Ser405Arg)
c.1057A>C (p.Ser353Arg)
 dbSNP
Xg.48688941A>GCA412873511WASn.457A>G
c.1213A>G (p.Ser405Gly)
c.1057A>G (p.Ser353Gly)
Xg.48688941A>TCA412873512WASn.457A>T
c.1213A>T (p.Ser405Cys)
c.1057A>T (p.Ser353Cys)
Xg.48688942G>ACA412873514WASn.458G>A
c.1214G>A (p.Ser405Asn)
c.1058G>A (p.Ser353Asn)
Xg.48688942G>CCA412873515WASn.458G>C
c.1214G>C (p.Ser405Thr)
c.1058G>C (p.Ser353Thr)
 dbSNP
Xg.48688942G>TCA412873513WASn.458G>T
c.1214G>T (p.Ser405Ile)
c.1058G>T (p.Ser353Ile)
Xg.48688943C>ACA412873516WASn.459C>A
c.1215C>A (p.Ser405Arg)
c.1059C>A (p.Ser353Arg)
 gnomAD v4
Xg.48688943C>GCA412873517WASn.459C>G
c.1215C>G (p.Ser405Arg)
c.1059C>G (p.Ser353Arg)
Xg.48688943C>TCA516356407WASn.459C>T
c.1215C>T (p.Ser405=)
c.1059C>T (p.Ser353=)
Xg.48688944T>ACA412873518WASn.460T>A
c.1216T>A (p.Ser406Thr)
c.1060T>A (p.Ser354Thr)
 dbSNP
Xg.48688944T>CCA412873519WASn.460T>C
c.1216T>C (p.Ser406Pro)
c.1060T>C (p.Ser354Pro)
Xg.48688944T>GCA412873520WASn.460T>G
c.1216T>G (p.Ser406Ala)
c.1060T>G (p.Ser354Ala)
Xg.48688944T=CA2428355766WASn.460T=
c.1216T= (p.Ser406=)
c.1060T= (p.Ser354=)
Xg.48688945C>ACA412873523WASn.461C>A
c.1217C>A (p.Ser406Tyr)
c.1061C>A (p.Ser354Tyr)
Xg.48688945C>GCA412873522WASn.461C>G
c.1217C>G (p.Ser406Cys)
c.1061C>G (p.Ser354Cys)
Xg.48688945C>TCA412873521WASn.461C>T
c.1217C>T (p.Ser406Phe)
c.1061C>T (p.Ser354Phe)
Xg.48688947_48688963dupCA16621419WASn.463_479dup
c.1219_1235dup (p.Pro413GlyfsTer?)
c.1063_1079dup (p.Pro361GlyfsTer?)
 ClinVar dbSNP
Xg.48688947_48688963delCA2695233788WASn.463_479del
c.1219_1235del (p.Gly407SerfsTer?)
c.1063_1079del (p.Gly355SerfsTer?)
Xg.48688946C>ACA516356411WASn.462C>A
c.1218C>A (p.Ser406=)
c.1062C>A (p.Ser354=)
 gnomAD v4
Xg.48688946C=CA2428355767WASn.462C=
c.1218C= (p.Ser406=)
c.1062C= (p.Ser354=)
Xg.48688946C>GCA516356412WASn.462C>G
c.1218C>G (p.Ser406=)
c.1062C>G (p.Ser354=)
Xg.48688946C>TCA10404053WASn.462C>T
c.1218C>T (p.Ser406=)
c.1062C>T (p.Ser354=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688947G>ACA10404054WASn.463G>A
c.1219G>A (p.Gly407Arg)
c.1063G>A (p.Gly355Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688947G>CCA412873524WASn.463G>C
c.1219G>C (p.Gly407Arg)
c.1063G>C (p.Gly355Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688947G=CA2428355768WASn.463G=
c.1219G= (p.Gly407=)
c.1063G= (p.Gly355=)
Xg.48688947G>TCA412873525WASn.463G>T
c.1219G>T (p.Gly407Trp)
c.1063G>T (p.Gly355Trp)
 gnomAD v4
Xg.48688948_48688949dupCA2695233789WASn.464_465dup
c.1220_1221dup (p.Asn408GlyfsTer?)
c.1064_1065dup (p.Asn356GlyfsTer?)
Xg.48688949delCA2580101065WASn.465del
c.1221del (p.Asn408MetfsTer?)
c.1065del (p.Asn356MetfsTer?)
 ClinVar
Xg.48688948G>ACA412873526WASn.464G>A
c.1220G>A (p.Gly407Glu)
c.1064G>A (p.Gly355Glu)
Xg.48688948G>CCA412873527WASn.464G>C
c.1220G>C (p.Gly407Ala)
c.1064G>C (p.Gly355Ala)
Xg.48688948G>TCA412873528WASn.464G>T
c.1220G>T (p.Gly407Val)
c.1064G>T (p.Gly355Val)
 gnomAD v4
Xg.48688949G>ACA516356416WASn.465G>A
c.1221G>A (p.Gly407=)
c.1065G>A (p.Gly355=)
Xg.48688949G>CCA516356417WASn.465G>C
c.1221G>C (p.Gly407=)
c.1065G>C (p.Gly355=)
Xg.48688949G>TCA516356418WASn.465G>T
c.1221G>T (p.Gly407=)
c.1065G>T (p.Gly355=)
Xg.48688950A>CCA412873529WASn.466A>C
c.1222A>C (p.Asn408His)
c.1066A>C (p.Asn356His)
Xg.48688950A>GCA412873531WASn.466A>G
c.1222A>G (p.Asn408Asp)
c.1066A>G (p.Asn356Asp)
Xg.48688950A>TCA412873530WASn.466A>T
c.1222A>T (p.Asn408Tyr)
c.1066A>T (p.Asn356Tyr)
 gnomAD v4
Xg.48688951A>CCA412873532WASn.467A>C
c.1223A>C (p.Asn408Thr)
c.1067A>C (p.Asn356Thr)
Xg.48688951A>GCA412873533WASn.467A>G
c.1223A>G (p.Asn408Ser)
c.1067A>G (p.Asn356Ser)
Xg.48688951A>TCA412873534WASn.467A>T
c.1223A>T (p.Asn408Ile)
c.1067A>T (p.Asn356Ile)
Xg.48688951_48688952delCA2695233790WASn.467_468del
c.1223_1224del (p.Asn408ArgfsTer?)
c.1067_1068del (p.Asn356ArgfsTer?)
Xg.48688952T>ACA412873535WASn.468T>A
c.1224T>A (p.Asn408Lys)
c.1068T>A (p.Asn356Lys)
Xg.48688952T>CCA516356422WASn.468T>C
c.1224T>C (p.Asn408=)
c.1068T>C (p.Asn356=)
Xg.48688952T>GCA412873536WASn.468T>G
c.1224T>G (p.Asn408Lys)
c.1068T>G (p.Asn356Lys)
Xg.48688953G>ACA412873537WASn.469G>A
c.1225G>A (p.Gly409Arg)
c.1069G>A (p.Gly357Arg)
 gnomAD v4
Xg.48688953G>CCA412873538WASn.469G>C
c.1225G>C (p.Gly409Arg)
c.1069G>C (p.Gly357Arg)
Xg.48688953G>TCA412873539WASn.469G>T
c.1225G>T (p.Gly409Ter)
c.1069G>T (p.Gly357Ter)
 gnomAD v4
Xg.48688954G>ACA10404055WASn.470G>A
c.1226G>A (p.Gly409Glu)
c.1070G>A (p.Gly357Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48688954G>CCA412873540WASn.470G>C
c.1226G>C (p.Gly409Ala)
c.1070G>C (p.Gly357Ala)
Xg.48688954G=CA2428355769WASn.470G=
c.1226G= (p.Gly409=)
c.1070G= (p.Gly357=)
Xg.48688954G>TCA412873541WASn.470G>T
c.1226G>T (p.Gly409Val)
c.1070G>T (p.Gly357Val)
Xg.48688955A=CA2428355770WASn.471A=
c.1227A= (p.Gly409=)
c.1071A= (p.Gly357=)
Xg.48688955A>CCA10404056WASn.471A>C
c.1227A>C (p.Gly409=)
c.1071A>C (p.Gly357=)
 dbSNP ExAC gnomAD v4
Xg.48688955A>GCA516356426WASn.471A>G
c.1227A>G (p.Gly409=)
c.1071A>G (p.Gly357=)
Xg.48688955A>TCA516356427WASn.471A>T
c.1227A>T (p.Gly409=)
c.1071A>T (p.Gly357=)
Xg.48688956C>ACA412873542WASn.472C>A
c.1228C>A (p.Pro410Thr)
c.1072C>A (p.Pro358Thr)
Xg.48688956C>GCA412873544WASn.472C>G
c.1228C>G (p.Pro410Ala)
c.1072C>G (p.Pro358Ala)
Xg.48688956C>TCA412873543WASn.472C>T
c.1228C>T (p.Pro410Ser)
c.1072C>T (p.Pro358Ser)
Xg.48688957C>ACA412873545WASn.473C>A
c.1229C>A (p.Pro410Gln)
c.1073C>A (p.Pro358Gln)
 gnomAD v4
Xg.48688957C=CA2428355771WASn.473C=
c.1229C= (p.Pro410=)
c.1073C= (p.Pro358=)
Xg.48688957C>GCA412873546WASn.473C>G
c.1229C>G (p.Pro410Arg)
c.1073C>G (p.Pro358Arg)
 ClinVar dbSNP
Xg.48688957C>TCA412873547WASn.473C>T
c.1229C>T (p.Pro410Leu)
c.1073C>T (p.Pro358Leu)
Xg.48688958A>CCA516356431WASn.474A>C
c.1230A>C (p.Pro410=)
c.1074A>C (p.Pro358=)
Xg.48688958A>GCA516356432WASn.474A>G
c.1230A>G (p.Pro410=)
c.1074A>G (p.Pro358=)
Xg.48688958A>TCA516356433WASn.474A>T
c.1230A>T (p.Pro410=)
c.1074A>T (p.Pro358=)
Xg.48688959G>ACA412873548WASn.475G>A
c.1231G>A (p.Ala411Thr)
c.1075G>A (p.Ala359Thr)
 dbSNP
Xg.48688959G>CCA412873549WASn.475G>C
c.1231G>C (p.Ala411Pro)
c.1075G>C (p.Ala359Pro)
Xg.48688959G=CA2428355772WASn.475G=
c.1231G= (p.Ala411=)
c.1075G= (p.Ala359=)
Xg.48688959G>TCA412873550WASn.475G>T
c.1231G>T (p.Ala411Ser)
c.1075G>T (p.Ala359Ser)
Xg.48688960C>ACA412873551WASn.476C>A
c.1232C>A (p.Ala411Asp)
c.1076C>A (p.Ala359Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.48688960C=CA2428355773WASn.476C=
c.1232C= (p.Ala411=)
c.1076C= (p.Ala359=)
Xg.48688960C>GCA412873552WASn.476C>G
c.1232C>G (p.Ala411Gly)
c.1076C>G (p.Ala359Gly)
Xg.48688960C>TCA10404057WASn.476C>T
c.1232C>T (p.Ala411Val)
c.1076C>T (p.Ala359Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48688960_48688961delinsGCA2695233792WASn.476_477delinsG
c.1232_1233delinsG (p.Ala411GlyfsTer?)
c.1076_1077delinsG (p.Ala359GlyfsTer?)
Xg.48688963dupCA2695233794WASn.479dup
c.1235dup (p.Pro413SerfsTer?)
c.1079dup (p.Pro361SerfsTer?)
Xg.48688962_48688963dupCA2695233793WASn.478_479dup
c.1234_1235dup (p.Pro413LeufsTer?)
c.1078_1079dup (p.Pro361LeufsTer?)
Xg.48688963delCA2695233791WASn.479del
c.1235del (p.Pro412LeufsTer?)
c.1079del (p.Pro360LeufsTer?)
Xg.48688961C>ACA516356438WASn.477C>A
c.1233C>A (p.Ala411=)
c.1077C>A (p.Ala359=)
 gnomAD v4
Xg.48688961C>GCA516356436WASn.477C>G
c.1233C>G (p.Ala411=)
c.1077C>G (p.Ala359=)
Xg.48688961C>TCA516356437WASn.477C>T
c.1233C>T (p.Ala411=)
c.1077C>T (p.Ala359=)
 gnomAD v4
Xg.48688962C>ACA412873553WASn.478C>A
c.1234C>A (p.Pro412Thr)
c.1078C>A (p.Pro360Thr)
Xg.48688962C>GCA412873554WASn.478C>G
c.1234C>G (p.Pro412Ala)
c.1078C>G (p.Pro360Ala)
Xg.48688962C>TCA412873555WASn.478C>T
c.1234C>T (p.Pro412Ser)
c.1078C>T (p.Pro360Ser)

Number of alleles fetched