11 | g.71147069C>A | CA2614884895 | SHANK2 | c.207+51G>T (n.207+51G>T)
| gnomAD v4 |
11 | g.71147069C>T | CA2614884896 | SHANK2 | c.207+51G>A (n.207+51G>A)
| gnomAD v4 |
11 | g.71147070A>G | CA2574909167 | SHANK2 | c.207+50T>C (n.207+50T>C)
| |
11 | g.71147070A>T | CA2614884897 | SHANK2 | c.207+50T>A (n.207+50T>A)
| gnomAD v4 |
11 | g.71147071C>A | CA2614884898 | SHANK2 | c.207+49G>T (n.207+49G>T)
| gnomAD v4 |
11 | g.71147071C= | CA1981345980 | SHANK2 | c.207+49G= (n.207+49G=)
| |
11 | g.71147071C>G | CA939354800 | SHANK2 | c.207+49G>C (n.207+49G>C)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147071C>T | CA679876636 | SHANK2 | c.207+49G>A (n.207+49G>A)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147072A= | CA1981345983 | SHANK2 | c.207+48T= (n.207+48T=)
| |
11 | g.71147072A>C | CA939354801 | SHANK2 | c.207+48T>G (n.207+48T>G)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147072A>G | CA2614884900 | SHANK2 | c.207+48T>C (n.207+48T>C)
| gnomAD v4 |
11 | g.71147072A>T | CA2614884899 | SHANK2 | c.207+48T>A (n.207+48T>A)
| gnomAD v4 |
11 | g.71147073G>T | CA2574909170 | SHANK2 | c.207+47C>A (n.207+47C>A)
| gnomAD v4 |
11 | g.71147074G>A | CA1981345986 | SHANK2 | c.207+46C>T (n.207+46C>T)
| dbSNP gnomAD v4 |
11 | g.71147074G= | CA1981345985 | SHANK2 | c.207+46C= (n.207+46C=)
| |
11 | g.71147074G>T | CA2614884901 | SHANK2 | c.207+46C>A (n.207+46C>A)
| gnomAD v4 |
11 | g.71147075T>C | CA1981345989 | SHANK2 | c.207+45A>G (n.207+45A>G)
| dbSNP |
11 | g.71147075T>G | CA2614884902 | SHANK2 | c.207+45A>C (n.207+45A>C)
| gnomAD v4 |
11 | g.71147075T= | CA1981345987 | SHANK2 | c.207+45A= (n.207+45A=)
| |
11 | g.71147076G>A | CA2614884903 | SHANK2 | c.207+44C>T (n.207+44C>T)
| gnomAD v4 |
11 | g.71147076G>T | CA2574909171 | SHANK2 | c.207+44C>A (n.207+44C>A)
| gnomAD v4 |
11 | g.71147077A>G | CA2614884904 | SHANK2 | c.207+43T>C (n.207+43T>C)
| gnomAD v4 |
11 | g.71147078C>A | CA2614884905 | SHANK2 | c.207+42G>T (n.207+42G>T)
| gnomAD v4 |
11 | g.71147078C= | CA1981345994 | SHANK2 | c.207+42G= (n.207+42G=)
| |
11 | g.71147078C>T | CA600180822 | SHANK2 | c.207+42G>A (n.207+42G>A)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147080T>A | CA2614884906 | SHANK2 | c.207+40A>T (n.207+40A>T)
| gnomAD v4 |
11 | g.71147080T>C | CA224343863 | SHANK2 | c.207+40A>G (n.207+40A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147080T= | CA1981345996 | SHANK2 | c.207+40A= (n.207+40A=)
| |
11 | g.71147081T>C | CA2524027255 | SHANK2 | c.207+39A>G (n.207+39A>G)
| gnomAD v4 |
11 | g.71147082G>T | CA2614884907 | SHANK2 | c.207+38C>A (n.207+38C>A)
| gnomAD v4 |
11 | g.71147083T>C | CA2614884908 | SHANK2 | c.207+37A>G (n.207+37A>G)
| gnomAD v4 |
11 | g.71147085C>A | CA2614884909 | SHANK2 | c.207+35G>T (n.207+35G>T)
| gnomAD v4 |
11 | g.71147085C= | CA1981345998 | SHANK2 | c.207+35G= (n.207+35G=)
| |
11 | g.71147085C>T | CA600180828 | SHANK2 | c.207+35G>A (n.207+35G>A)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147086del | CA2574909172 | SHANK2 | c.207+34del (n.207+34del)
| |
11 | g.71147086A>T | CA2614884910 | SHANK2 | c.207+34T>A (n.207+34T>A)
| gnomAD v4 |
11 | g.71147087G>A | CA2614884911 | SHANK2 | c.207+33C>T (n.207+33C>T)
| gnomAD v4 |
11 | g.71147087G= | CA1981346000 | SHANK2 | c.207+33C= (n.207+33C=)
| |
11 | g.71147087G>T | CA600180831 | SHANK2 | c.207+33C>A (n.207+33C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147088A= | CA1981346002 | SHANK2 | c.207+32T= (n.207+32T=)
| |
11 | g.71147088A>T | CA1981346001 | SHANK2 | c.207+32T>A (n.207+32T>A)
| dbSNP gnomAD v4 |
11 | g.71147090G>A | CA6162161 | SHANK2 | c.207+30C>T (n.207+30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71147090G= | CA1981346004 | SHANK2 | c.207+30C= (n.207+30C=)
| |
11 | g.71147090G>T | CA2614884912 | SHANK2 | c.207+30C>A (n.207+30C>A)
| gnomAD v4 |
11 | g.71147092G>A | CA600180836 | SHANK2 | c.207+28C>T (n.207+28C>T)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147092G>C | CA2614884913 | SHANK2 | c.207+28C>G (n.207+28C>G)
| gnomAD v4 |
11 | g.71147092G= | CA1981346007 | SHANK2 | c.207+28C= (n.207+28C=)
| |
11 | g.71147092G>T | CA2614884914 | SHANK2 | c.207+28C>A (n.207+28C>A)
| gnomAD v4 |
11 | g.71147095C>G | CA2614884916 | SHANK2 | c.207+25G>C (n.207+25G>C)
| gnomAD v4 |
11 | g.71147096del | CA2614884915 | SHANK2 | c.207+25del (n.207+25del)
| gnomAD v4 |
11 | g.71147099A>G | CA2614884918 | SHANK2 | c.207+21T>C (n.207+21T>C)
| gnomAD v4 |
11 | g.71147099_71147102del | CA2614884917 | SHANK2 | c.207+18_207+21del (n.207+18_207+21del)
| gnomAD v4 |
11 | g.71147100G>C | CA2614884919 | SHANK2 | c.207+20C>G (n.207+20C>G)
| gnomAD v4 |
11 | g.71147100G>T | CA2614884920 | SHANK2 | c.207+20C>A (n.207+20C>A)
| gnomAD v4 |
11 | g.71147101G>A | CA2614884921 | SHANK2 | c.207+19C>T (n.207+19C>T)
| gnomAD v4 |
11 | g.71147101G>T | CA2614884922 | SHANK2 | c.207+19C>A (n.207+19C>A)
| gnomAD v4 |
11 | g.71147102G>T | CA2614884923 | SHANK2 | c.207+18C>A (n.207+18C>A)
| gnomAD v4 |
11 | g.71147103C>A | CA2614884924 | SHANK2 | c.207+17G>T (n.207+17G>T)
| gnomAD v4 |
11 | g.71147103C>T | CA2614884925 | SHANK2 | c.207+17G>A (n.207+17G>A)
| gnomAD v4 |
11 | g.71147105G>A | CA6162162 | SHANK2 | c.207+15C>T (n.207+15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147105G= | CA1981346012 | SHANK2 | c.207+15C= (n.207+15C=)
| |
11 | g.71147105G>T | CA2614884926 | SHANK2 | c.207+15C>A (n.207+15C>A)
| gnomAD v4 |
11 | g.71147107C= | CA1981346013 | SHANK2 | c.207+13G= (n.207+13G=)
| |
11 | g.71147107C>T | CA6162163 | SHANK2 | c.207+13G>A (n.207+13G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147108C>A | CA2614884927 | SHANK2 | c.207+12G>T (n.207+12G>T)
| gnomAD v4 |
11 | g.71147110C>A | CA2614884928 | SHANK2 | c.207+10G>T (n.207+10G>T)
| gnomAD v4 |
11 | g.71147110C= | CA1981346014 | SHANK2 | c.207+10G= (n.207+10G=)
| |
11 | g.71147110C>G | CA1981346015 | SHANK2 | c.207+10G>C (n.207+10G>C)
| dbSNP |
11 | g.71147110C>T | CA600180848 | SHANK2 | c.207+10G>A (n.207+10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147111G>A | CA224343869 | SHANK2 | c.207+9C>T (n.207+9C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147111G= | CA1981346016 | SHANK2 | c.207+9C= (n.207+9C=)
| |
11 | g.71147111G>T | CA2614884929 | SHANK2 | c.207+9C>A (n.207+9C>A)
| gnomAD v4 |
11 | g.71147112G>A | CA1981346018 | SHANK2 | c.207+8C>T (n.207+8C>T)
| dbSNP |
11 | g.71147112G= | CA1981346017 | SHANK2 | c.207+8C= (n.207+8C=)
| |
11 | g.71147113G>A | CA600180853 | SHANK2 | c.207+7C>T (n.207+7C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147113G= | CA1981346019 | SHANK2 | c.207+7C= (n.207+7C=)
| |
11 | g.71147113G>T | CA2614884930 | SHANK2 | c.207+7C>A (n.207+7C>A)
| gnomAD v4 |
11 | g.71147114G>A | CA2614884931 | SHANK2 | c.207+6C>T (n.207+6C>T)
| gnomAD v4 |
11 | g.71147114G>C | CA2614884932 | SHANK2 | c.207+6C>G (n.207+6C>G)
| gnomAD v4 |
11 | g.71147114G= | CA1981346020 | SHANK2 | c.207+6C= (n.207+6C=)
| |
11 | g.71147114G>T | CA1981346021 | SHANK2 | c.207+6C>A (n.207+6C>A)
| dbSNP gnomAD v4 |
11 | g.71147115del | CA2614884933 | SHANK2 | c.207+5del (n.207+5del)
| gnomAD v4 |
11 | g.71147115C>A | CA2792620353 | SHANK2 | c.207+5G>T (n.207+5G>T)
| |
11 | g.71147115C= | CA1981346022 | SHANK2 | c.207+5G= (n.207+5G=)
| |
11 | g.71147115C>G | CA679876657 | SHANK2 | c.207+5G>C (n.207+5G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147116T>G | CA2614884934 | SHANK2 | c.207+4A>C (n.207+4A>C)
| gnomAD v4 |
11 | g.71147117C>T | CA2614884935 | SHANK2 | c.207+3G>A (n.207+3G>A)
| gnomAD v4 |
11 | g.71147118A>C | CA381961082 | SHANK2 | c.207+2T>G (n.207+2T>G)
| |
11 | g.71147118A>G | CA381961083 | SHANK2 | c.207+2T>C (n.207+2T>C)
| |
11 | g.71147118A>T | CA381961084 | SHANK2 | c.207+2T>A (n.207+2T>A)
| |
11 | g.71147119C>A | CA381961085 | SHANK2 | c.207+1G>T (n.207+1G>T)
| |
11 | g.71147119C>G | CA381961086 | SHANK2 | c.207+1G>C (n.207+1G>C)
| gnomAD v4 |
11 | g.71147119C>T | CA381961087 | SHANK2 | c.207+1G>A (n.207+1G>A)
| gnomAD v4 |
11 | g.71147120C>A | CA475815160 | SHANK2 | c.207G>T (p.Thr69=)
| gnomAD v4 |
11 | g.71147120C= | CA1981346023 | SHANK2 | c.207G= (p.Thr69=)
| |
11 | g.71147120C>G | CA475815161 | SHANK2 | c.207G>C (p.Thr69=)
| |
11 | g.71147120C>T | CA475815162 | SHANK2 | c.207G>A (p.Thr69=)
| dbSNP gnomAD v4 |
11 | g.71147121G>A | CA6162164 | SHANK2 | c.206C>T (p.Thr69Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.71147121G>C | CA381961088 | SHANK2 | c.206C>G (p.Thr69Arg)
| gnomAD v4 |
11 | g.71147121G= | CA1981346024 | SHANK2 | c.206C= (p.Thr69=)
| |
11 | g.71147121G>T | CA381961089 | SHANK2 | c.206C>A (p.Thr69Lys)
| gnomAD v4 |
11 | g.71147122T>A | CA381961091 | SHANK2 | c.205A>T (p.Thr69Ser)
| |
11 | g.71147122T>C | CA381961092 | SHANK2 | c.205A>G (p.Thr69Ala)
| |
11 | g.71147122T>G | CA381961090 | SHANK2 | c.205A>C (p.Thr69Pro)
| |
11 | g.71147123C>A | CA381961093 | SHANK2 | c.204G>T (p.Gln68His)
| |
11 | g.71147123C>G | CA381961094 | SHANK2 | c.204G>C (p.Gln68His)
| |
11 | g.71147123C>T | CA475815163 | SHANK2 | c.204G>A (p.Gln68=)
| gnomAD v4 |
11 | g.71147124T>A | CA381961095 | SHANK2 | c.203A>T (p.Gln68Leu)
| |
11 | g.71147124T>C | CA381961096 | SHANK2 | c.203A>G (p.Gln68Arg)
| |
11 | g.71147124T>G | CA381961097 | SHANK2 | c.203A>C (p.Gln68Pro)
| |
11 | g.71147125G>A | CA381961098 | SHANK2 | c.202C>T (p.Gln68Ter)
| dbSNP |
11 | g.71147125G>C | CA381961099 | SHANK2 | c.202C>G (p.Gln68Glu)
| |
11 | g.71147125G= | CA1981346025 | SHANK2 | c.202C= (p.Gln68=)
| |
11 | g.71147125G>T | CA381961100 | SHANK2 | c.202C>A (p.Gln68Lys)
| |
11 | g.71147126C>A | CA381961101 | SHANK2 | c.201G>T (p.Gln67His)
| |
11 | g.71147126C= | CA1981346026 | SHANK2 | c.201G= (p.Gln67=)
| |
11 | g.71147126C>G | CA381961102 | SHANK2 | c.201G>C (p.Gln67His)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147126C>T | CA475815164 | SHANK2 | c.201G>A (p.Gln67=)
| |
11 | g.71147127T>A | CA381961103 | SHANK2 | c.200A>T (p.Gln67Leu)
| |
11 | g.71147127T>C | CA381961104 | SHANK2 | c.200A>G (p.Gln67Arg)
| gnomAD v4 |
11 | g.71147127T>G | CA381961105 | SHANK2 | c.200A>C (p.Gln67Pro)
| |
11 | g.71147128G>A | CA381961107 | SHANK2 | c.199C>T (p.Gln67Ter)
| gnomAD v4 |
11 | g.71147128G>C | CA381961106 | SHANK2 | c.199C>G (p.Gln67Glu)
| |
11 | g.71147128G= | CA1981346027 | SHANK2 | c.199C= (p.Gln67=)
| |
11 | g.71147128G>T | CA6162165 | SHANK2 | c.199C>A (p.Gln67Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71147129C>A | CA475815167 | SHANK2 | c.198G>T (p.Leu66=)
| gnomAD v4 |
11 | g.71147129C>G | CA475815166 | SHANK2 | c.198G>C (p.Leu66=)
| |
11 | g.71147129C>T | CA475815165 | SHANK2 | c.198G>A (p.Leu66=)
| gnomAD v4 |
11 | g.71147130A>C | CA381961108 | SHANK2 | c.197T>G (p.Leu66Arg)
| |
11 | g.71147130A>G | CA381961109 | SHANK2 | c.197T>C (p.Leu66Pro)
| |
11 | g.71147130A>T | CA381961110 | SHANK2 | c.197T>A (p.Leu66Gln)
| |
11 | g.71147131G>A | CA475815169 | SHANK2 | c.196C>T (p.Leu66=)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147131G>C | CA381961111 | SHANK2 | c.196C>G (p.Leu66Val)
| |
11 | g.71147131G= | CA1981346028 | SHANK2 | c.196C= (p.Leu66=)
| |
11 | g.71147131G>T | CA381961112 | SHANK2 | c.196C>A (p.Leu66Met)
| gnomAD v4 |
11 | g.71147132G>A | CA475815171 | SHANK2 | c.195C>T (p.Asp65=)
| gnomAD v4 |
11 | g.71147132G>C | CA381961113 | SHANK2 | c.195C>G (p.Asp65Glu)
| |
11 | g.71147132G>T | CA381961114 | SHANK2 | c.195C>A (p.Asp65Glu)
| gnomAD v4 |
11 | g.71147133T>A | CA381961115 | SHANK2 | c.194A>T (p.Asp65Val)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147133T>C | CA381961116 | SHANK2 | c.194A>G (p.Asp65Gly)
| |
11 | g.71147133T>G | CA381961117 | SHANK2 | c.194A>C (p.Asp65Ala)
| |
11 | g.71147133T= | CA1981346029 | SHANK2 | c.194A= (p.Asp65=)
| |
11 | g.71147134C>A | CA381961118 | SHANK2 | c.193G>T (p.Asp65Tyr)
| |
11 | g.71147134C>G | CA381961119 | SHANK2 | c.193G>C (p.Asp65His)
| |
11 | g.71147134C>T | CA381961120 | SHANK2 | c.193G>A (p.Asp65Asn)
| gnomAD v4 |
11 | g.71147135A>C | CA381961122 | SHANK2 | c.192T>G (p.His64Gln)
| |
11 | g.71147135A>G | CA475815172 | SHANK2 | c.192T>C (p.His64=)
| gnomAD v4 |
11 | g.71147135A>T | CA381961121 | SHANK2 | c.192T>A (p.His64Gln)
| |
11 | g.71147137_71147152del | CA2614884936 | SHANK2 | c.177_192del (p.Ile59MetfsTer28)
| gnomAD v4 |
11 | g.71147136T>A | CA381961123 | SHANK2 | c.191A>T (p.His64Leu)
| |
11 | g.71147136T>C | CA10640014 | SHANK2 | c.191A>G (p.His64Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147136T>G | CA6162166 | SHANK2 | c.191A>C (p.His64Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147136T= | CA1981346030 | SHANK2 | c.191A= (p.His64=)
| |
11 | g.71147137G>A | CA381961124 | SHANK2 | c.190C>T (p.His64Tyr)
| |
11 | g.71147137G>C | CA381961125 | SHANK2 | c.190C>G (p.His64Asp)
| |
11 | g.71147137G>T | CA381961126 | SHANK2 | c.190C>A (p.His64Asn)
| gnomAD v4 |
11 | g.71147138G>A | CA475815176 | SHANK2 | c.189C>T (p.Ile63=)
| |
11 | g.71147138G>C | CA381961127 | SHANK2 | c.189C>G (p.Ile63Met)
| |
11 | g.71147138G>T | CA475815175 | SHANK2 | c.189C>A (p.Ile63=)
| gnomAD v4 |
11 | g.71147139A= | CA1981346034 | SHANK2 | c.188T= (p.Ile63=)
| |
11 | g.71147139A>C | CA381961128 | SHANK2 | c.188T>G (p.Ile63Ser)
| |
11 | g.71147139A>G | CA381961129 | SHANK2 | c.188T>C (p.Ile63Thr)
| dbSNP |
11 | g.71147139A>T | CA381961130 | SHANK2 | c.188T>A (p.Ile63Asn)
| |
11 | g.71147139_71147147delinsATGACCACG | CA1981346035 | SHANK2 | c.180_188delinsCGTGGTCAT (p.Arg60=)
| |
11 | g.71147140T>A | CA381961131 | SHANK2 | c.187A>T (p.Ile63Phe)
| |
11 | g.71147140T>C | CA381961132 | SHANK2 | c.187A>G (p.Ile63Val)
| |
11 | g.71147140T>G | CA381961133 | SHANK2 | c.187A>C (p.Ile63Leu)
| |
11 | g.71147140_71147147del | CA939354817 | SHANK2 | c.180_187del (p.Val61ProfsTer2)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147141G>A | CA475815177 | SHANK2 | c.186C>T (p.Val62=)
| |
11 | g.71147141G>C | CA475815179 | SHANK2 | c.186C>G (p.Val62=)
| |
11 | g.71147141G>T | CA475815178 | SHANK2 | c.186C>A (p.Val62=)
| gnomAD v4 |
11 | g.71147142A>C | CA381961134 | SHANK2 | c.185T>G (p.Val62Gly)
| |
11 | g.71147142A>G | CA381961135 | SHANK2 | c.185T>C (p.Val62Ala)
| gnomAD v4 |
11 | g.71147142A>T | CA381961136 | SHANK2 | c.185T>A (p.Val62Asp)
| |
11 | g.71147143C>A | CA381961139 | SHANK2 | c.184G>T (p.Val62Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147143C= | CA1981346043 | SHANK2 | c.184G= (p.Val62=)
| |
11 | g.71147143C>G | CA381961137 | SHANK2 | c.184G>C (p.Val62Leu)
| gnomAD v4 |
11 | g.71147143C>T | CA381961138 | SHANK2 | c.184G>A (p.Val62Ile)
| |
11 | g.71147144C>A | CA475815182 | SHANK2 | c.183G>T (p.Val61=)
| gnomAD v4 |
11 | g.71147144C>G | CA475815183 | SHANK2 | c.183G>C (p.Val61=)
| |
11 | g.71147144C>T | CA475815184 | SHANK2 | c.183G>A (p.Val61=)
| gnomAD v4 |
11 | g.71147145A>C | CA381961140 | SHANK2 | c.182T>G (p.Val61Gly)
| |
11 | g.71147145A>G | CA381961141 | SHANK2 | c.182T>C (p.Val61Ala)
| |
11 | g.71147145A>T | CA381961142 | SHANK2 | c.182T>A (p.Val61Glu)
| |
11 | g.71147146C>A | CA381961143 | SHANK2 | c.181G>T (p.Val61Leu)
| |
11 | g.71147146C= | CA1981346045 | SHANK2 | c.181G= (p.Val61=)
| |
11 | g.71147146C>G | CA381961144 | SHANK2 | c.181G>C (p.Val61Leu)
| |
11 | g.71147146C>T | CA381961145 | SHANK2 | c.181G>A (p.Val61Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147147G>A | CA475815185 | SHANK2 | c.180C>T (p.Arg60=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147147G>C | CA475815186 | SHANK2 | c.180C>G (p.Arg60=)
| |
11 | g.71147147G= | CA1981346046 | SHANK2 | c.180C= (p.Arg60=)
| |
11 | g.71147147G>T | CA475815187 | SHANK2 | c.180C>A (p.Arg60=)
| |
11 | g.71147147_71147148insACA | CA2792620354 | SHANK2 | c.179_180insTGT (p.Arg60_Val61insVal)
| |
11 | g.71147147_71147148insACACGATTACGAGGCGGGCTTTAGCGGCTCTAAAAAGAGTTGGCTTGGATGATAAAACAGCTGAAAGTCCATATGACCTGTCATTGT | CA475815188 | SHANK2 | c.179_180insACAATGACAGGTCATATGGACTTTCAGCTGTTTTATCATCCAAGCCAACTCTTTTTAGAGCCGCTAAAGCCCGCCTCGTAATCGTGT (p.Arg61GlnfsTer2)
| |
11 | g.71147148C>A | CA381961146 | SHANK2 | c.179G>T (p.Arg60Leu)
| |
11 | g.71147148C= | CA1981346049 | SHANK2 | c.179G= (p.Arg60=)
| |
11 | g.71147148C>G | CA381961147 | SHANK2 | c.179G>C (p.Arg60Pro)
| |
11 | g.71147148C>T | CA6162167 | SHANK2 | c.179G>A (p.Arg60His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147149G>A | CA6162168 | SHANK2 | c.178C>T (p.Arg60Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.71147149G>C | CA381961148 | SHANK2 | c.178C>G (p.Arg60Gly)
| gnomAD v4 |
11 | g.71147149G= | CA1981346052 | SHANK2 | c.178C= (p.Arg60=)
| |
11 | g.71147149G>T | CA381961149 | SHANK2 | c.178C>A (p.Arg60Ser)
| |
11 | g.71147150del | CA2792620355 | SHANK2 | c.178del (p.Arg60AlafsTer?)
| |
11 | g.71147150G>A | CA475815190 | SHANK2 | c.177C>T (p.Ile59=)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147150G>C | CA381961150 | SHANK2 | c.177C>G (p.Ile59Met)
| gnomAD v4 |
11 | g.71147150G= | CA1981346057 | SHANK2 | c.177C= (p.Ile59=)
| |
11 | g.71147150G>T | CA475815191 | SHANK2 | c.177C>A (p.Ile59=)
| |
11 | g.71147151A>C | CA381961153 | SHANK2 | c.176T>G (p.Ile59Ser)
| |
11 | g.71147151A>G | CA381961151 | SHANK2 | c.176T>C (p.Ile59Thr)
| gnomAD v4 |
11 | g.71147151A>T | CA381961152 | SHANK2 | c.176T>A (p.Ile59Asn)
| |
11 | g.71147152T>A | CA381961154 | SHANK2 | c.175A>T (p.Ile59Phe)
| |
11 | g.71147152T>C | CA381961155 | SHANK2 | c.175A>G (p.Ile59Val)
| |
11 | g.71147152T>G | CA381961156 | SHANK2 | c.175A>C (p.Ile59Leu)
| |
11 | g.71147153C>A | CA475815192 | SHANK2 | c.174G>T (p.Val58=)
| dbSNP |
11 | g.71147153C= | CA1981346060 | SHANK2 | c.174G= (p.Val58=)
| |
11 | g.71147153C>G | CA475815193 | SHANK2 | c.174G>C (p.Val58=)
| |
11 | g.71147153C>T | CA475815194 | SHANK2 | c.174G>A (p.Val58=)
| gnomAD v4 |
11 | g.71147153dup | CA2614884937 | SHANK2 | c.174dup (p.Ile59AspfsTer7)
| ClinVar gnomAD v4 |
11 | g.71147154A>C | CA381961157 | SHANK2 | c.173T>G (p.Val58Gly)
| |
11 | g.71147154A>G | CA381961158 | SHANK2 | c.173T>C (p.Val58Ala)
| |
11 | g.71147154A>T | CA381961159 | SHANK2 | c.173T>A (p.Val58Glu)
| |
11 | g.71147155C>A | CA381961160 | SHANK2 | c.172G>T (p.Val58Leu)
| |
11 | g.71147155C>G | CA381961161 | SHANK2 | c.172G>C (p.Val58Leu)
| |
11 | g.71147155C>T | CA381961162 | SHANK2 | c.172G>A (p.Val58Met)
| |
11 | g.71147156C>A | CA475815196 | SHANK2 | c.171G>T (p.Leu57=)
| |
11 | g.71147156C>G | CA475815198 | SHANK2 | c.171G>C (p.Leu57=)
| |
11 | g.71147156C>T | CA475815197 | SHANK2 | c.171G>A (p.Leu57=)
| |
11 | g.71147157A= | CA1981346064 | SHANK2 | c.170T= (p.Leu57=)
| |
11 | g.71147157A>C | CA381961163 | SHANK2 | c.170T>G (p.Leu57Arg)
| |
11 | g.71147157A>G | CA381961164 | SHANK2 | c.170T>C (p.Leu57Pro)
| dbSNP gnomAD v4 |
11 | g.71147157A>T | CA381961165 | SHANK2 | c.170T>A (p.Leu57Gln)
| |
11 | g.71147158G>A | CA475815199 | SHANK2 | c.169C>T (p.Leu57=)
| |
11 | g.71147158G>C | CA381961166 | SHANK2 | c.169C>G (p.Leu57Val)
| |
11 | g.71147158G>T | CA381961167 | SHANK2 | c.169C>A (p.Leu57Met)
| |
11 | g.71147159C>A | CA475815200 | SHANK2 | c.168G>T (p.Thr56=)
| dbSNP gnomAD v2 |
11 | g.71147159C= | CA1981346073 | SHANK2 | c.168G= (p.Thr56=)
| |
11 | g.71147159C>G | CA475815201 | SHANK2 | c.168G>C (p.Thr56=)
| |
11 | g.71147159C>T | CA6162169 | SHANK2 | c.168G>A (p.Thr56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147159_71147160insAA | CA2614884938 | SHANK2 | c.167_168insTT (p.Leu57CysfsTer3)
| gnomAD v4 |
11 | g.71147160G>A | CA6162170 | SHANK2 | c.167C>T (p.Thr56Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147160G>C | CA381961168 | SHANK2 | c.167C>G (p.Thr56Arg)
| gnomAD v4 |
11 | g.71147160G= | CA1981346077 | SHANK2 | c.167C= (p.Thr56=)
| |
11 | g.71147160G>T | CA381961169 | SHANK2 | c.167C>A (p.Thr56Lys)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147161T>A | CA381961170 | SHANK2 | c.166A>T (p.Thr56Ser)
| |
11 | g.71147161T>C | CA381961171 | SHANK2 | c.166A>G (p.Thr56Ala)
| gnomAD v4 |
11 | g.71147161T>G | CA381961172 | SHANK2 | c.166A>C (p.Thr56Pro)
| |
11 | g.71147162G>A | CA475815206 | SHANK2 | c.165C>T (p.Asn55=)
| gnomAD v4 |
11 | g.71147162G>C | CA381961173 | SHANK2 | c.165C>G (p.Asn55Lys)
| |
11 | g.71147162G>T | CA381961174 | SHANK2 | c.165C>A (p.Asn55Lys)
| |
11 | g.71147163T>A | CA381961175 | SHANK2 | c.164A>T (p.Asn55Ile)
| gnomAD v4 |
11 | g.71147163T>C | CA6162171 | SHANK2 | c.164A>G (p.Asn55Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147163T>G | CA381961176 | SHANK2 | c.164A>C (p.Asn55Thr)
| dbSNP |
11 | g.71147163T= | CA1981346083 | SHANK2 | c.164A= (p.Asn55=)
| |
11 | g.71147164T>A | CA381961177 | SHANK2 | c.163A>T (p.Asn55Tyr)
| |
11 | g.71147164T>C | CA381961178 | SHANK2 | c.163A>G (p.Asn55Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71147164T>G | CA6162172 | SHANK2 | c.163A>C (p.Asn55His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71147164T= | CA1981346088 | SHANK2 | c.163A= (p.Asn55=)
| |
11 | g.71147165del | CA2740093123 | SHANK2 | c.162del (p.Asn55ThrfsTer4)
| ClinVar |
11 | g.71147165G>A | CA475815207 | SHANK2 | c.162C>T (p.Gly54=)
| gnomAD v4 |
11 | g.71147165G>C | CA475815208 | SHANK2 | c.162C>G (p.Gly54=)
| |
11 | g.71147165G>T | CA475815209 | SHANK2 | c.162C>A (p.Gly54=)
| |
11 | g.71147166C>A | CA381961179 | SHANK2 | c.161G>T (p.Gly54Val)
| gnomAD v4 COSMIC |
11 | g.71147166C= | CA1981346091 | SHANK2 | c.161G= (p.Gly54=)
| |
11 | g.71147166C>G | CA381961181 | SHANK2 | c.161G>C (p.Gly54Ala)
| |
11 | g.71147166C>T | CA381961180 | SHANK2 | c.161G>A (p.Gly54Asp)
| dbSNP gnomAD v3 gnomAD v4 |
11 | g.71147167C>A | CA381961182 | SHANK2 | c.160G>T (p.Gly54Cys)
| dbSNP gnomAD v2 gnomAD v4 |
11 | g.71147167C= | CA1981346095 | SHANK2 | c.160G= (p.Gly54=)
| |
11 | g.71147167C>G | CA381961184 | SHANK2 | c.160G>C (p.Gly54Arg)
| |
11 | g.71147167C>T | CA381961183 | SHANK2 | c.160G>A (p.Gly54Ser)
| dbSNP |
11 | g.71147168C>A | CA381961185 | SHANK2 | c.159G>T (p.Gln53His)
| |
11 | g.71147168C>G | CA381961186 | SHANK2 | c.159G>C (p.Gln53His)
| |
11 | g.71147168C>T | CA475815211 | SHANK2 | c.159G>A (p.Gln53=)
| gnomAD v4 |
11 | g.71147169T>A | CA381961187 | SHANK2 | c.158A>T (p.Gln53Leu)
| |
11 | g.71147169T>C | CA381961189 | SHANK2 | c.158A>G (p.Gln53Arg)
| |
11 | g.71147169T>G | CA381961188 | SHANK2 | c.158A>C (p.Gln53Pro)
| |