Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.155806513G>ACA458750786SHHc.345C>T (p.Asn115=)
c.84C>T (p.Asn28=)
n.254C>T
c.6C>T (p.Asn2=)
n.345C>T
 dbSNP gnomAD v3 gnomAD v4
7g.155806513G>CCA370149358SHHc.345C>G (p.Asn115Lys)
c.84C>G (p.Asn28Lys)
n.254C>G
c.6C>G (p.Asn2Lys)
n.345C>G
7g.155806513G=CA1754773583SHHc.345C= (p.Asn115=)
c.84C= (p.Asn28=)
n.254C=
c.6C= (p.Asn2=)
n.345C=
7g.155806513G>TCA340846SHHc.345C>A (p.Asn115Lys)
c.84C>A (p.Asn28Lys)
n.254C>A
c.6C>A (p.Asn2Lys)
n.345C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.155806514T>ACA370149359SHHc.344A>T (p.Asn115Ile)
c.83A>T (p.Asn28Ile)
n.253A>T
c.5A>T (p.Asn2Ile)
n.344A>T
7g.155806514T>CCA370149360SHHc.344A>G (p.Asn115Ser)
c.83A>G (p.Asn28Ser)
n.253A>G
c.5A>G (p.Asn2Ser)
n.344A>G
7g.155806514T>GCA370149361SHHc.344A>C (p.Asn115Thr)
c.83A>C (p.Asn28Thr)
n.253A>C
c.5A>C (p.Asn2Thr)
n.344A>C
 dbSNP gnomAD v3 gnomAD v4
7g.155806514T=CA1754773591SHHc.344A= (p.Asn115=)
c.83A= (p.Asn28=)
n.253A=
c.5A= (p.Asn2=)
n.344A=
7g.155806515T>ACA370149362SHHc.343A>T (p.Asn115Tyr)
c.82A>T (p.Asn28Tyr)
n.252A>T
c.4A>T (p.Asn2Tyr)
n.343A>T
7g.155806515T>CCA370149363SHHc.343A>G (p.Asn115Asp)
c.82A>G (p.Asn28Asp)
n.252A>G
c.4A>G (p.Asn2Asp)
n.343A>G
7g.155806515T>GCA370149364SHHc.343A>C (p.Asn115His)
c.82A>C (p.Asn28His)
n.252A>C
c.4A>C (p.Asn2His)
n.343A>C
7g.155806516C>ACA370149366SHHc.342G>T (p.Met114Ile)
c.81G>T (p.Met27Ile)
n.251G>T
c.3G>T (p.Met1Ile)
n.342G>T
 COSMIC
7g.155806516C=CA1754773596SHHc.342G= (p.Met114=)
c.81G= (p.Met27=)
n.251G=
c.3G= (p.Met1=)
n.342G=
7g.155806516C>GCA370149365SHHc.342G>C (p.Met114Ile)
c.81G>C (p.Met27Ile)
n.251G>C
c.3G>C (p.Met1Ile)
n.342G>C
7g.155806516C>TCA4587029SHHc.342G>A (p.Met114Ile)
c.81G>A (p.Met27Ile)
n.251G>A
c.3G>A (p.Met1Ile)
n.342G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.155806517A>CCA370149367SHHc.341T>G (p.Met114Arg)
c.80T>G (p.Met27Arg)
n.250T>G
c.2T>G (p.Met1Arg)
n.341T>G
7g.155806517A>GCA370149368SHHc.341T>C (p.Met114Thr)
c.80T>C (p.Met27Thr)
n.250T>C
c.2T>C (p.Met1Thr)
n.341T>C
7g.155806517A>TCA370149369SHHc.341T>A (p.Met114Lys)
c.80T>A (p.Met27Lys)
n.250T>A
c.2T>A (p.Met1Lys)
n.341T>A
7g.155806518T>ACA370149370SHHc.340A>T (p.Met114Leu)
c.79A>T (p.Met27Leu)
n.249A>T
c.1A>T (p.Met1Leu)
n.340A>T
7g.155806518T>CCA370149371SHHc.340A>G (p.Met114Val)
c.79A>G (p.Met27Val)
n.249A>G
c.1A>G (p.Met1Val)
n.340A>G
7g.155806518T>GCA370149372SHHc.340A>C (p.Met114Leu)
c.79A>C (p.Met27Leu)
n.249A>C
c.1A>C (p.Met1Leu)
n.340A>C
7g.155806519C>ACA458750787SHHc.339G>T (p.Val113=)
c.78G>T (p.Val26=)
n.248G>T
c.-1G>T (n.-1G>T)
n.339G>T
7g.155806519C=CA1754773603SHHc.339G= (p.Val113=)
c.78G= (p.Val26=)
n.248G=
c.-1G= (n.-1G=)
n.339G=
7g.155806519C>GCA4587030SHHc.339G>C (p.Val113=)
c.78G>C (p.Val26=)
n.248G>C
c.-1G>C (n.-1G>C)
n.339G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.155806519C>TCA458750788SHHc.339G>A (p.Val113=)
c.78G>A (p.Val26=)
n.248G>A
c.-1G>A (n.-1G>A)
n.339G>A
7g.155806520A>CCA370149373SHHc.338T>G (p.Val113Gly)
c.77T>G (p.Val26Gly)
n.247T>G
c.-2T>G (n.-2T>G)
n.338T>G
7g.155806520A>GCA370149374SHHc.338T>C (p.Val113Ala)
c.77T>C (p.Val26Ala)
n.247T>C
c.-2T>C (n.-2T>C)
n.338T>C
7g.155806520A>TCA370149375SHHc.338T>A (p.Val113Glu)
c.77T>A (p.Val26Glu)
n.247T>A
c.-2T>A (n.-2T>A)
n.338T>A
7g.155806521C>ACA370149376SHHc.337G>T (p.Val113Leu)
c.76G>T (p.Val26Leu)
n.246G>T
c.-3G>T (n.-3G>T)
n.337G>T
7g.155806521C>GCA370149377SHHc.337G>C (p.Val113Leu)
c.76G>C (p.Val26Leu)
n.246G>C
c.-3G>C (n.-3G>C)
n.337G>C
7g.155806521C>TCA370149378SHHc.337G>A (p.Val113Met)
c.76G>A (p.Val26Met)
n.246G>A
c.-3G>A (n.-3G>A)
n.337G>A
7g.155806523_155806531delCA2695208852SHHc.329_337del (p.Ala110_Ser112del)
c.68_76del (p.Ala23_Ser25del)
n.238_246del
c.-11_-3del (n.-11_-3del)
n.329_337del
7g.155806522C>ACA458750789SHHc.336G>T (p.Ser112=)
c.75G>T (p.Ser25=)
n.245G>T
c.-4G>T (n.-4G>T)
n.336G>T
7g.155806522C=CA1754773607SHHc.336G= (p.Ser112=)
c.75G= (p.Ser25=)
n.245G=
c.-4G= (n.-4G=)
n.336G=
7g.155806522C>GCA458750790SHHc.336G>C (p.Ser112=)
c.75G>C (p.Ser25=)
n.245G>C
c.-4G>C (n.-4G>C)
n.336G>C
7g.155806522C>TCA169423610SHHc.336G>A (p.Ser112=)
c.75G>A (p.Ser25=)
n.245G>A
c.-4G>A (n.-4G>A)
n.336G>A
 dbSNP gnomAD v3 gnomAD v4
7g.155806523G>ACA370149381SHHc.335C>T (p.Ser112Leu)
c.74C>T (p.Ser25Leu)
n.244C>T
c.-5C>T (n.-5C>T)
n.335C>T
7g.155806523G>CCA370149379SHHc.335C>G (p.Ser112Trp)
c.74C>G (p.Ser25Trp)
n.244C>G
c.-5C>G (n.-5C>G)
n.335C>G
 ClinVar dbSNP
7g.155806523G>TCA370149380SHHc.335C>A (p.Ser112Ter)
c.74C>A (p.Ser25Ter)
n.244C>A
c.-5C>A (n.-5C>A)
n.335C>A
7g.155806524A>CCA370149382SHHc.334T>G (p.Ser112Ala)
c.73T>G (p.Ser25Ala)
n.243T>G
c.-6T>G (n.-6T>G)
n.334T>G
7g.155806524A>GCA370149383SHHc.334T>C (p.Ser112Pro)
c.73T>C (p.Ser25Pro)
n.243T>C
c.-6T>C (n.-6T>C)
n.334T>C
7g.155806524A>TCA370149384SHHc.334T>A (p.Ser112Thr)
c.73T>A (p.Ser25Thr)
n.243T>A
c.-6T>A (n.-6T>A)
n.334T>A
7g.155806525G>ACA458750791SHHc.333C>T (p.Ile111=)
c.72C>T (p.Ile24=)
n.242C>T
c.-7C>T (n.-7C>T)
n.333C>T
7g.155806525G>CCA370149385SHHc.333C>G (p.Ile111Met)
c.72C>G (p.Ile24Met)
n.242C>G
c.-7C>G (n.-7C>G)
n.333C>G
7g.155806525G>TCA458750792SHHc.333C>A (p.Ile111=)
c.72C>A (p.Ile24=)
n.242C>A
c.-7C>A (n.-7C>A)
n.333C>A
7g.155806526A>CCA370149386SHHc.332T>G (p.Ile111Ser)
c.71T>G (p.Ile24Ser)
n.241T>G
c.-8T>G (n.-8T>G)
n.332T>G
7g.155806526A>GCA370149387SHHc.332T>C (p.Ile111Thr)
c.71T>C (p.Ile24Thr)
n.241T>C
c.-8T>C (n.-8T>C)
n.332T>C
 ClinVar dbSNP
7g.155806526A>TCA370149388SHHc.332T>A (p.Ile111Asn)
c.71T>A (p.Ile24Asn)
n.241T>A
c.-8T>A (n.-8T>A)
n.332T>A
7g.155806527T>ACA119987SHHc.331A>T (p.Ile111Phe)
c.70A>T (p.Ile24Phe)
n.240A>T
c.-9A>T (n.-9A>T)
n.331A>T
 ClinVar dbSNP gnomAD v4
7g.155806527T>CCA370149389SHHc.331A>G (p.Ile111Val)
c.70A>G (p.Ile24Val)
n.240A>G
c.-9A>G (n.-9A>G)
n.331A>G

Number of alleles fetched