Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154863125G>ACA255211F8c.6532C>T (p.Arg2178Cys)
c.265C>T (p.Arg89Cys)
c.127C>T (p.Arg43Cys)
c.6427C>T (p.Arg2143Cys)
ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC
Xg.154863125G>CCA414907205F8c.6532C>G (p.Arg2178Gly)
c.265C>G (p.Arg89Gly)
c.127C>G (p.Arg43Gly)
c.6427C>G (p.Arg2143Gly)
Xg.154863125G=CA2466815631F8c.6532C= (p.Arg2178=)
c.265C= (p.Arg89=)
c.127C= (p.Arg43=)
c.6427C= (p.Arg2143=)
Xg.154863125G>TCA414907212F8c.6532C>A (p.Arg2178Ser)
c.265C>A (p.Arg89Ser)
c.127C>A (p.Arg43Ser)
c.6427C>A (p.Arg2143Ser)
Xg.154863126A>CCA414907217F8c.6531T>G (p.Ile2177Met)
c.264T>G (p.Ile88Met)
c.126T>G (p.Ile42Met)
c.6426T>G (p.Ile2142Met)
Xg.154863126A>GCA519357862F8c.6531T>C (p.Ile2177=)
c.264T>C (p.Ile88=)
c.126T>C (p.Ile42=)
c.6426T>C (p.Ile2142=)
Xg.154863126A>TCA519357863F8c.6531T>A (p.Ile2177=)
c.264T>A (p.Ile88=)
c.126T>A (p.Ile42=)
c.6426T>A (p.Ile2142=)
Xg.154863127A>CCA414907225F8c.6530T>G (p.Ile2177Ser)
c.263T>G (p.Ile88Ser)
c.125T>G (p.Ile42Ser)
c.6425T>G (p.Ile2142Ser)
Xg.154863127A>GCA414907223F8c.6530T>C (p.Ile2177Thr)
c.263T>C (p.Ile88Thr)
c.125T>C (p.Ile42Thr)
c.6425T>C (p.Ile2142Thr)
Xg.154863127A>TCA414907228F8c.6530T>A (p.Ile2177Asn)
c.263T>A (p.Ile88Asn)
c.125T>A (p.Ile42Asn)
c.6425T>A (p.Ile2142Asn)
Xg.154863128T>ACA414907232F8c.6529A>T (p.Ile2177Phe)
c.262A>T (p.Ile88Phe)
c.124A>T (p.Ile42Phe)
c.6424A>T (p.Ile2142Phe)
Xg.154863128T>CCA414907234F8c.6529A>G (p.Ile2177Val)
c.262A>G (p.Ile88Val)
c.124A>G (p.Ile42Val)
c.6424A>G (p.Ile2142Val)
Xg.154863128T>GCA414907236F8c.6529A>C (p.Ile2177Leu)
c.262A>C (p.Ile88Leu)
c.124A>C (p.Ile42Leu)
c.6424A>C (p.Ile2142Leu)
Xg.154863129G>ACA519357867F8c.6528C>T (p.Ser2176=)
c.261C>T (p.Ser87=)
c.123C>T (p.Ser41=)
c.6423C>T (p.Ser2141=)
COSMIC COSMIC
Xg.154863129G>CCA414907237F8c.6528C>G (p.Ser2176Arg)
c.261C>G (p.Ser87Arg)
c.123C>G (p.Ser41Arg)
c.6423C>G (p.Ser2141Arg)
Xg.154863129G>TCA414907238F8c.6528C>A (p.Ser2176Arg)
c.261C>A (p.Ser87Arg)
c.123C>A (p.Ser41Arg)
c.6423C>A (p.Ser2141Arg)
Xg.154863130C>ACA414907242F8c.6527G>T (p.Ser2176Ile)
c.260G>T (p.Ser87Ile)
c.122G>T (p.Ser41Ile)
c.6422G>T (p.Ser2141Ile)
Xg.154863130C>GCA414907244F8c.6527G>C (p.Ser2176Thr)
c.260G>C (p.Ser87Thr)
c.122G>C (p.Ser41Thr)
c.6422G>C (p.Ser2141Thr)
Xg.154863130C>TCA414907247F8c.6527G>A (p.Ser2176Asn)
c.260G>A (p.Ser87Asn)
c.122G>A (p.Ser41Asn)
c.6422G>A (p.Ser2141Asn)
Xg.154863131T>ACA414907251F8c.6526A>T (p.Ser2176Cys)
c.259A>T (p.Ser87Cys)
c.121A>T (p.Ser41Cys)
c.6421A>T (p.Ser2141Cys)
Xg.154863131T>CCA414907252F8c.6526A>G (p.Ser2176Gly)
c.259A>G (p.Ser87Gly)
c.121A>G (p.Ser41Gly)
c.6421A>G (p.Ser2141Gly)
Xg.154863131T>GCA414907253F8c.6526A>C (p.Ser2176Arg)
c.259A>C (p.Ser87Arg)
c.121A>C (p.Ser41Arg)
c.6421A>C (p.Ser2141Arg)
Xg.154863131_154863134delinsTATACA2466815634F8c.6523_6526delinsTATA (p.Tyr2175=)
c.256_259delinsTATA (p.Tyr86=)
c.118_121delinsTATA (p.Tyr40=)
c.6418_6421delinsTATA (p.Tyr2140=)
Xg.154863132A>CCA414907265F8c.6525T>G (p.Tyr2175Ter)
c.258T>G (p.Tyr86Ter)
c.120T>G (p.Tyr40Ter)
c.6420T>G (p.Tyr2140Ter)
Xg.154863132A>GCA519357869F8c.6525T>C (p.Tyr2175=)
c.258T>C (p.Tyr86=)
c.120T>C (p.Tyr40=)
c.6420T>C (p.Tyr2140=)
Xg.154863132A>TCA414907257F8c.6525T>A (p.Tyr2175Ter)
c.258T>A (p.Tyr86Ter)
c.120T>A (p.Tyr40Ter)
c.6420T>A (p.Tyr2140Ter)
Xg.154863134_154863136delCA1139667895F8c.6523_6525del (p.Tyr2175del)
c.256_258del (p.Tyr86del)
c.118_120del (p.Tyr40del)
c.6418_6420del (p.Tyr2140del)
ClinVar dbSNP
Xg.154863133T>ACA414907269F8c.6524A>T (p.Tyr2175Phe)
c.257A>T (p.Tyr86Phe)
c.119A>T (p.Tyr40Phe)
c.6419A>T (p.Tyr2140Phe)
Xg.154863133T>CCA414907272F8c.6524A>G (p.Tyr2175Cys)
c.257A>G (p.Tyr86Cys)
c.119A>G (p.Tyr40Cys)
c.6419A>G (p.Tyr2140Cys)
Xg.154863133T>GCA414907276F8c.6524A>C (p.Tyr2175Ser)
c.257A>C (p.Tyr86Ser)
c.119A>C (p.Tyr40Ser)
c.6419A>C (p.Tyr2140Ser)
Xg.154863134A>CCA414907287F8c.6523T>G (p.Tyr2175Asp)
c.256T>G (p.Tyr86Asp)
c.118T>G (p.Tyr40Asp)
c.6418T>G (p.Tyr2140Asp)
Xg.154863134A>GCA414907290F8c.6523T>C (p.Tyr2175His)
c.256T>C (p.Tyr86His)
c.118T>C (p.Tyr40His)
c.6418T>C (p.Tyr2140His)
Xg.154863134A>TCA414907293F8c.6523T>A (p.Tyr2175Asn)
c.256T>A (p.Tyr86Asn)
c.118T>A (p.Tyr40Asn)
c.6418T>A (p.Tyr2140Asn)
Xg.154863135delCA2695237167F8c.6523del (p.Tyr2175IlefsTer11)
c.256del (p.Tyr86IlefsTer11)
c.118del (p.Tyr40IlefsTer11)
c.6418del (p.Tyr2140IlefsTer11)
Xg.154863135A>CCA414907300F8c.6522T>G (p.His2174Gln)
c.255T>G (p.His85Gln)
c.117T>G (p.His39Gln)
c.6417T>G (p.His2139Gln)
Xg.154863135A>GCA519357872F8c.6522T>C (p.His2174=)
c.255T>C (p.His85=)
c.117T>C (p.His39=)
c.6417T>C (p.His2139=)
Xg.154863135A>TCA414907304F8c.6522T>A (p.His2174Gln)
c.255T>A (p.His85Gln)
c.117T>A (p.His39Gln)
c.6417T>A (p.His2139Gln)
Xg.154863136T>ACA414907312F8c.6521A>T (p.His2174Leu)
c.254A>T (p.His85Leu)
c.116A>T (p.His39Leu)
c.6416A>T (p.His2139Leu)
Xg.154863136T>CCA414907313F8c.6521A>G (p.His2174Arg)
c.254A>G (p.His85Arg)
c.116A>G (p.His39Arg)
c.6416A>G (p.His2139Arg)
COSMIC COSMIC
Xg.154863136T>GCA414907315F8c.6521A>C (p.His2174Pro)
c.254A>C (p.His85Pro)
c.116A>C (p.His39Pro)
c.6416A>C (p.His2139Pro)
Xg.154863137G>ACA414907326F8c.6520C>T (p.His2174Tyr)
c.253C>T (p.His85Tyr)
c.115C>T (p.His39Tyr)
c.6415C>T (p.His2139Tyr)
Xg.154863137G>CCA414907323F8c.6520C>G (p.His2174Asp)
c.253C>G (p.His85Asp)
c.115C>G (p.His39Asp)
c.6415C>G (p.His2139Asp)
Xg.154863137G>TCA414907318F8c.6520C>A (p.His2174Asn)
c.253C>A (p.His85Asn)
c.115C>A (p.His39Asn)
c.6415C>A (p.His2139Asn)
Xg.154863138A>CCA519357876F8c.6519T>G (p.Thr2173=)
c.252T>G (p.Thr84=)
c.114T>G (p.Thr38=)
c.6414T>G (p.Thr2138=)
Xg.154863138A>GCA519357877F8c.6519T>C (p.Thr2173=)
c.252T>C (p.Thr84=)
c.114T>C (p.Thr38=)
c.6414T>C (p.Thr2138=)
COSMIC COSMIC
Xg.154863138A>TCA519357878F8c.6519T>A (p.Thr2173=)
c.252T>A (p.Thr84=)
c.114T>A (p.Thr38=)
c.6414T>A (p.Thr2138=)
Xg.154863138_154863140dupCA2695237168F8c.6517_6519dup (p.Thr2173_His2174insThr)
c.250_252dup (p.Thr84_His85insThr)
c.112_114dup (p.Thr38_His39insThr)
c.6412_6414dup (p.Thr2138_His2139insThr)
Xg.154863139G>ACA255210F8c.6518C>T (p.Thr2173Ile)
c.251C>T (p.Thr84Ile)
c.113C>T (p.Thr38Ile)
c.6413C>T (p.Thr2138Ile)
ClinVar dbSNP
Xg.154863139G>CCA414907336F8c.6518C>G (p.Thr2173Ser)
c.251C>G (p.Thr84Ser)
c.113C>G (p.Thr38Ser)
c.6413C>G (p.Thr2138Ser)
dbSNP gnomAD v3 gnomAD v4
Xg.154863139G=CA2466815638F8c.6518C= (p.Thr2173=)
c.251C= (p.Thr84=)
c.113C= (p.Thr38=)
c.6413C= (p.Thr2138=)

Number of alleles fetched