Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17527256G>A | CA5905040 | USH1C | c.463C>T (p.Arg155Ter) c.496C>T (p.Arg166Ter) c.370C>T (p.Arg124Ter) n.572C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527256G>C | CA379795210 | USH1C | c.463C>G (p.Arg155Gly) c.496C>G (p.Arg166Gly) c.370C>G (p.Arg124Gly) n.572C>G | |
11 | g.17527256G= | CA1955187075 | USH1C | c.463C= (p.Arg155=) c.496C= (p.Arg166=) c.370C= (p.Arg124=) n.572C= | |
11 | g.17527256G>T | CA473302413 | USH1C | c.463C>A (p.Arg155=) c.496C>A (p.Arg166=) c.370C>A (p.Arg124=) n.572C>A | |
11 | g.17527257A>C | CA379795211 | USH1C | c.462T>G (p.Ile154Met) c.495T>G (p.Ile165Met) c.369T>G (p.Ile123Met) n.571T>G | |
11 | g.17527257A>G | CA473302415 | USH1C | c.462T>C (p.Ile154=) c.495T>C (p.Ile165=) c.369T>C (p.Ile123=) n.571T>C | |
11 | g.17527257A>T | CA473302416 | USH1C | c.462T>A (p.Ile154=) c.495T>A (p.Ile165=) c.369T>A (p.Ile123=) n.571T>A | |
11 | g.17527258A= | CA1955187076 | USH1C | c.461T= (p.Ile154=) c.494T= (p.Ile165=) c.368T= (p.Ile123=) n.570T= | |
11 | g.17527258A>C | CA379795212 | USH1C | c.461T>G (p.Ile154Ser) c.494T>G (p.Ile165Ser) c.368T>G (p.Ile123Ser) n.570T>G | |
11 | g.17527258A>G | CA379795213 | USH1C | c.461T>C (p.Ile154Thr) c.494T>C (p.Ile165Thr) c.368T>C (p.Ile123Thr) n.570T>C | gnomAD v4 |
11 | g.17527258A>T | CA379795214 | USH1C | c.461T>A (p.Ile154Asn) c.494T>A (p.Ile165Asn) c.368T>A (p.Ile123Asn) n.570T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527259T>A | CA379795215 | USH1C | c.460A>T (p.Ile154Phe) c.493A>T (p.Ile165Phe) c.367A>T (p.Ile123Phe) n.569A>T | |
11 | g.17527259T>C | CA5905041 | USH1C | c.460A>G (p.Ile154Val) c.493A>G (p.Ile165Val) c.367A>G (p.Ile123Val) n.569A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527259T>G | CA379795216 | USH1C | c.460A>C (p.Ile154Leu) c.493A>C (p.Ile165Leu) c.367A>C (p.Ile123Leu) n.569A>C | |
11 | g.17527259T= | CA1955187077 | USH1C | c.460A= (p.Ile154=) c.493A= (p.Ile165=) c.367A= (p.Ile123=) n.569A= | |
11 | g.17527260G>A | CA473302421 | USH1C | c.459C>T (p.Leu153=) c.492C>T (p.Leu164=) c.366C>T (p.Leu122=) n.568C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527260G>C | CA473302423 | USH1C | c.459C>G (p.Leu153=) c.492C>G (p.Leu164=) c.366C>G (p.Leu122=) n.568C>G | |
11 | g.17527260G= | CA1955187078 | USH1C | c.459C= (p.Leu153=) c.492C= (p.Leu164=) c.366C= (p.Leu122=) n.568C= | |
11 | g.17527260G>T | CA473302424 | USH1C | c.459C>A (p.Leu153=) c.492C>A (p.Leu164=) c.366C>A (p.Leu122=) n.568C>A | |
11 | g.17527261A>C | CA379795217 | USH1C | c.458T>G (p.Leu153Arg) c.491T>G (p.Leu164Arg) c.365T>G (p.Leu122Arg) n.567T>G | |
11 | g.17527261A>G | CA379795218 | USH1C | c.458T>C (p.Leu153Pro) c.491T>C (p.Leu164Pro) c.365T>C (p.Leu122Pro) n.567T>C | |
11 | g.17527261A>T | CA379795219 | USH1C | c.458T>A (p.Leu153His) c.491T>A (p.Leu164His) c.365T>A (p.Leu122His) n.567T>A | |
11 | g.17527262G>A | CA379795220 | USH1C | c.457C>T (p.Leu153Phe) c.490C>T (p.Leu164Phe) c.364C>T (p.Leu122Phe) n.566C>T | gnomAD v4 |
11 | g.17527262G>C | CA379795221 | USH1C | c.457C>G (p.Leu153Val) c.490C>G (p.Leu164Val) c.364C>G (p.Leu122Val) n.566C>G | |
11 | g.17527262G>T | CA379795222 | USH1C | c.457C>A (p.Leu153Ile) c.490C>A (p.Leu164Ile) c.364C>A (p.Leu122Ile) n.566C>A | |
11 | g.17527263G>A | CA473302430 | USH1C | c.456C>T (p.Asn152=) c.489C>T (p.Asn163=) c.363C>T (p.Asn121=) n.565C>T | |
11 | g.17527263G>C | CA379795223 | USH1C | c.456C>G (p.Asn152Lys) c.489C>G (p.Asn163Lys) c.363C>G (p.Asn121Lys) n.565C>G | |
11 | g.17527263G>T | CA379795224 | USH1C | c.456C>A (p.Asn152Lys) c.489C>A (p.Asn163Lys) c.363C>A (p.Asn121Lys) n.565C>A | |
11 | g.17527264T>A | CA379795225 | USH1C | c.455A>T (p.Asn152Ile) c.488A>T (p.Asn163Ile) c.362A>T (p.Asn121Ile) n.564A>T | |
11 | g.17527264T>C | CA379795226 | USH1C | c.455A>G (p.Asn152Ser) c.488A>G (p.Asn163Ser) c.362A>G (p.Asn121Ser) n.564A>G | gnomAD v4 |
11 | g.17527264T>G | CA379795227 | USH1C | c.455A>C (p.Asn152Thr) c.488A>C (p.Asn163Thr) c.362A>C (p.Asn121Thr) n.564A>C | |
11 | g.17527265T>A | CA379795228 | USH1C | c.454A>T (p.Asn152Tyr) c.487A>T (p.Asn163Tyr) c.361A>T (p.Asn121Tyr) n.563A>T | |
11 | g.17527265T>C | CA379795229 | USH1C | c.454A>G (p.Asn152Asp) c.487A>G (p.Asn163Asp) c.361A>G (p.Asn121Asp) n.563A>G | |
11 | g.17527265T>G | CA379795230 | USH1C | c.454A>C (p.Asn152His) c.487A>C (p.Asn163His) c.361A>C (p.Asn121His) n.563A>C | |
11 | g.17527266G>A | CA473302435 | USH1C | c.453C>T (p.Ile151=) c.486C>T (p.Ile162=) c.360C>T (p.Ile120=) n.562C>T | ClinVar dbSNP |
11 | g.17527266G>C | CA379795231 | USH1C | c.453C>G (p.Ile151Met) c.486C>G (p.Ile162Met) c.360C>G (p.Ile120Met) n.562C>G | |
11 | g.17527266G= | CA1955187079 | USH1C | c.453C= (p.Ile151=) c.486C= (p.Ile162=) c.360C= (p.Ile120=) n.562C= | |
11 | g.17527266G>T | CA218461782 | USH1C | c.453C>A (p.Ile151=) c.486C>A (p.Ile162=) c.360C>A (p.Ile120=) n.562C>A | ClinVar dbSNP |
11 | g.17527267A>C | CA379795232 | USH1C | c.452T>G (p.Ile151Ser) c.485T>G (p.Ile162Ser) c.359T>G (p.Ile120Ser) n.561T>G | |
11 | g.17527267A>G | CA379795233 | USH1C | c.452T>C (p.Ile151Thr) c.485T>C (p.Ile162Thr) c.359T>C (p.Ile120Thr) n.561T>C | |
11 | g.17527267A>T | CA379795234 | USH1C | c.452T>A (p.Ile151Asn) c.485T>A (p.Ile162Asn) c.359T>A (p.Ile120Asn) n.561T>A | |
11 | g.17527268T>A | CA379795235 | USH1C | c.451A>T (p.Ile151Phe) c.484A>T (p.Ile162Phe) c.358A>T (p.Ile120Phe) n.560A>T | |
11 | g.17527268T>C | CA218461796 | USH1C | c.451A>G (p.Ile151Val) c.484A>G (p.Ile162Val) c.358A>G (p.Ile120Val) n.560A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527268T>G | CA379795236 | USH1C | c.451A>C (p.Ile151Leu) c.484A>C (p.Ile162Leu) c.358A>C (p.Ile120Leu) n.560A>C | |
11 | g.17527268T= | CA1955187080 | USH1C | c.451A= (p.Ile151=) c.484A= (p.Ile162=) c.358A= (p.Ile120=) n.560A= | |
11 | g.17527269G>A | CA473302438 | USH1C | c.450C>T (p.Val150=) c.483C>T (p.Val161=) c.357C>T (p.Val119=) n.559C>T | |
11 | g.17527269G>C | CA473302439 | USH1C | c.450C>G (p.Val150=) c.483C>G (p.Val161=) c.357C>G (p.Val119=) n.559C>G | |
11 | g.17527269G>T | CA473302441 | USH1C | c.450C>A (p.Val150=) c.483C>A (p.Val161=) c.357C>A (p.Val119=) n.559C>A | |
11 | g.17527270A>C | CA379795237 | USH1C | c.449T>G (p.Val150Gly) c.482T>G (p.Val161Gly) c.356T>G (p.Val119Gly) n.558T>G | |
11 | g.17527270A>G | CA379795239 | USH1C | c.449T>C (p.Val150Ala) c.482T>C (p.Val161Ala) c.356T>C (p.Val119Ala) n.558T>C |