Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3659941_3659950delCA2580093570CTNSc.936_945del (p.Ser312ArgfsTer14)
c.183_192del (p.Ser61ArgfsTer14)
c.495_504del (p.Ser165ArgfsTer14)
n.2862_2871del
 ClinVar
17g.3659949A=CA2243978605CTNSc.944A= (p.Gln315=)
c.191A= (p.Gln64=)
c.503A= (p.Gln168=)
n.2870A=
17g.3659949A>CCA397693280CTNSc.944A>C (p.Gln315Pro)
c.191A>C (p.Gln64Pro)
c.503A>C (p.Gln168Pro)
n.2870A>C
17g.3659949A>GCA16620398CTNSc.944A>G (p.Gln315Arg)
c.191A>G (p.Gln64Arg)
c.503A>G (p.Gln168Arg)
n.2870A>G
 ClinVar dbSNP gnomAD v2
17g.3659949A>TCA397693283CTNSc.944A>T (p.Gln315Leu)
c.191A>T (p.Gln64Leu)
c.503A>T (p.Gln168Leu)
n.2870A>T
17g.3659950G>ACA497466697CTNSc.945G>A (p.Gln315=)
c.192G>A (p.Gln64=)
c.504G>A (p.Gln168=)
n.2871G>A
 COSMIC COSMIC
17g.3659950G>CCA397693285CTNSc.945G>C (p.Gln315His)
c.192G>C (p.Gln64His)
c.504G>C (p.Gln168His)
n.2871G>C
 gnomAD v4
17g.3659950G>TCA397693287CTNSc.945G>T (p.Gln315His)
c.192G>T (p.Gln64His)
c.504G>T (p.Gln168His)
n.2871G>T
17g.3659951A=CA2243978607CTNSc.946A= (p.Met316=)
c.193A= (p.Met65=)
c.505A= (p.Met169=)
17g.3659951A>CCA397693288CTNSc.946A>C (p.Met316Leu)
c.193A>C (p.Met65Leu)
c.505A>C (p.Met169Leu)
17g.3659951A>GCA397693289CTNSc.946A>G (p.Met316Val)
c.193A>G (p.Met65Val)
c.505A>G (p.Met169Val)
 dbSNP
17g.3659951A>TCA397693290CTNSc.946A>T (p.Met316Leu)
c.193A>T (p.Met65Leu)
c.505A>T (p.Met169Leu)
17g.3659952T>ACA8291961CTNSc.947T>A (p.Met316Lys)
c.194T>A (p.Met65Lys)
c.506T>A (p.Met169Lys)
 dbSNP ExAC gnomAD v2
17g.3659952T>CCA397693295CTNSc.947T>C (p.Met316Thr)
c.194T>C (p.Met65Thr)
c.506T>C (p.Met169Thr)
17g.3659952T>GCA397693293CTNSc.947T>G (p.Met316Arg)
c.194T>G (p.Met65Arg)
c.506T>G (p.Met169Arg)
17g.3659952T=CA2243978609CTNSc.947T= (p.Met316=)
c.194T= (p.Met65=)
c.506T= (p.Met169=)
17g.3659953G>ACA287019913CTNSc.948G>A (p.Met316Ile)
c.195G>A (p.Met65Ile)
c.507G>A (p.Met169Ile)
 ClinVar dbSNP
17g.3659953G>CCA397693299CTNSc.948G>C (p.Met316Ile)
c.195G>C (p.Met65Ile)
c.507G>C (p.Met169Ile)
17g.3659953G=CA2243978610CTNSc.948G= (p.Met316=)
c.195G= (p.Met65=)
c.507G= (p.Met169=)
17g.3659953G>TCA397693300CTNSc.948G>T (p.Met316Ile)
c.195G>T (p.Met65Ile)
c.507G>T (p.Met169Ile)
17g.3659954T>ACA397693301CTNSc.949T>A (p.Phe317Ile)
c.196T>A (p.Phe66Ile)
c.508T>A (p.Phe170Ile)
17g.3659954T>CCA287019917CTNSc.949T>C (p.Phe317Leu)
c.196T>C (p.Phe66Leu)
c.508T>C (p.Phe170Leu)
 dbSNP
17g.3659954T>GCA397693302CTNSc.949T>G (p.Phe317Val)
c.196T>G (p.Phe66Val)
c.508T>G (p.Phe170Val)
17g.3659954T=CA2243978612CTNSc.949T= (p.Phe317=)
c.196T= (p.Phe66=)
c.508T= (p.Phe170=)
17g.3659955T>ACA397693309CTNSc.950T>A (p.Phe317Tyr)
c.197T>A (p.Phe66Tyr)
c.509T>A (p.Phe170Tyr)
17g.3659955T>CCA397693307CTNSc.950T>C (p.Phe317Ser)
c.197T>C (p.Phe66Ser)
c.509T>C (p.Phe170Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.3659955T>GCA397693305CTNSc.950T>G (p.Phe317Cys)
c.197T>G (p.Phe66Cys)
c.509T>G (p.Phe170Cys)
17g.3659955T=CA2243978614CTNSc.950T= (p.Phe317=)
c.197T= (p.Phe66=)
c.509T= (p.Phe170=)
17g.3659956C>ACA397693311CTNSc.951C>A (p.Phe317Leu)
c.198C>A (p.Phe66Leu)
c.510C>A (p.Phe170Leu)
17g.3659956C=CA2243978616CTNSc.951C= (p.Phe317=)
c.198C= (p.Phe66=)
c.510C= (p.Phe170=)
17g.3659956C>GCA397693313CTNSc.951C>G (p.Phe317Leu)
c.198C>G (p.Phe66Leu)
c.510C>G (p.Phe170Leu)
17g.3659956C>TCA8291962CTNSc.951C>T (p.Phe317=)
c.198C>T (p.Phe66=)
c.510C>T (p.Phe170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659957C>ACA397693316CTNSc.952C>A (p.Leu318Ile)
c.199C>A (p.Leu67Ile)
c.511C>A (p.Leu171Ile)
17g.3659957C=CA2243978619CTNSc.952C= (p.Leu318=)
c.199C= (p.Leu67=)
c.511C= (p.Leu171=)
17g.3659957C>GCA397693318CTNSc.952C>G (p.Leu318Val)
c.199C>G (p.Leu67Val)
c.511C>G (p.Leu171Val)
17g.3659957C>TCA8291963CTNSc.952C>T (p.Leu318Phe)
c.199C>T (p.Leu67Phe)
c.511C>T (p.Leu171Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659958_3659959delCA2576123922CTNSc.953_954del (p.Leu318ProfsTer?)
c.200_201del (p.Leu67ProfsTer?)
c.512_513del (p.Leu171ProfsTer?)
17g.3659958T>ACA397693320CTNSc.953T>A (p.Leu318His)
c.200T>A (p.Leu67His)
c.512T>A (p.Leu171His)
17g.3659958T>CCA397693324CTNSc.953T>C (p.Leu318Pro)
c.200T>C (p.Leu67Pro)
c.512T>C (p.Leu171Pro)
17g.3659958T>GCA397693323CTNSc.953T>G (p.Leu318Arg)
c.200T>G (p.Leu67Arg)
c.512T>G (p.Leu171Arg)
17g.3659959C>ACA497466698CTNSc.954C>A (p.Leu318=)
c.201C>A (p.Leu67=)
c.513C>A (p.Leu171=)
17g.3659959C>GCA497466700CTNSc.954C>G (p.Leu318=)
c.201C>G (p.Leu67=)
c.513C>G (p.Leu171=)
 gnomAD v4
17g.3659959C>TCA497466699CTNSc.954C>T (p.Leu318=)
c.201C>T (p.Leu67=)
c.513C>T (p.Leu171=)
 ClinVar dbSNP gnomAD v4
17g.3659960C>ACA397693327CTNSc.955C>A (p.Gln319Lys)
c.202C>A (p.Gln68Lys)
c.514C>A (p.Gln172Lys)
17g.3659960C>GCA397693328CTNSc.955C>G (p.Gln319Glu)
c.202C>G (p.Gln68Glu)
c.514C>G (p.Gln172Glu)
17g.3659960C>TCA397693330CTNSc.955C>T (p.Gln319Ter)
c.202C>T (p.Gln68Ter)
c.514C>T (p.Gln172Ter)
 ClinVar dbSNP gnomAD v4
17g.3659961A>CCA397693332CTNSc.956A>C (p.Gln319Pro)
c.203A>C (p.Gln68Pro)
c.515A>C (p.Gln172Pro)
17g.3659961A>GCA397693334CTNSc.956A>G (p.Gln319Arg)
c.203A>G (p.Gln68Arg)
c.515A>G (p.Gln172Arg)
17g.3659961A>TCA397693335CTNSc.956A>T (p.Gln319Leu)
c.203A>T (p.Gln68Leu)
c.515A>T (p.Gln172Leu)
17g.3659962G>ACA497466701CTNSc.957G>A (p.Gln319=)
c.204G>A (p.Gln68=)
c.516G>A (p.Gln172=)

Number of alleles fetched