Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.65402507A= | CA1634215993 | EYS | c.1155T= (p.Cys385=) | |
6 | g.65402507A>C | CA364662318 | EYS | c.1155T>G (p.Cys385Trp) | gnomAD v4 |
6 | g.65402507A>G | CA450707779 | EYS | c.1155T>C (p.Cys385=) | |
6 | g.65402507A>T | CA3877854 | EYS | c.1155T>A (p.Cys385Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402508C>A | CA364662319 | EYS | c.1154G>T (p.Cys385Phe) | |
6 | g.65402508C= | CA1634215999 | EYS | c.1154G= (p.Cys385=) | |
6 | g.65402508C>G | CA364662320 | EYS | c.1154G>C (p.Cys385Ser) | |
6 | g.65402508C>T | CA3877855 | EYS | c.1154G>A (p.Cys385Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402509A>C | CA364662321 | EYS | c.1153T>G (p.Cys385Gly) | ClinVar gnomAD v4 |
6 | g.65402509A>G | CA364662322 | EYS | c.1153T>C (p.Cys385Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.65402509A>T | CA364662323 | EYS | c.1153T>A (p.Cys385Ser) | gnomAD v4 |
6 | g.65402510T>A | CA450707780 | EYS | c.1152A>T (p.Thr384=) | |
6 | g.65402510T>C | CA450707781 | EYS | c.1152A>G (p.Thr384=) | ClinVar dbSNP gnomAD v4 |
6 | g.65402510T>G | CA450707782 | EYS | c.1152A>C (p.Thr384=) | |
6 | g.65402511G>A | CA364662324 | EYS | c.1151C>T (p.Thr384Ile) | gnomAD v4 |
6 | g.65402511G>C | CA364662325 | EYS | c.1151C>G (p.Thr384Arg) | |
6 | g.65402511G>T | CA364662326 | EYS | c.1151C>A (p.Thr384Lys) | gnomAD v4 |
6 | g.65402512T>A | CA364662328 | EYS | c.1150A>T (p.Thr384Ser) | |
6 | g.65402512T>C | CA139844993 | EYS | c.1150A>G (p.Thr384Ala) | dbSNP gnomAD v4 |
6 | g.65402512T>G | CA364662327 | EYS | c.1150A>C (p.Thr384Pro) | |
6 | g.65402512T= | CA1634216002 | EYS | c.1150A= (p.Thr384=) | |
6 | g.65402513A>C | CA450707783 | EYS | c.1149T>G (p.Ala383=) | |
6 | g.65402513A>G | CA450707784 | EYS | c.1149T>C (p.Ala383=) | gnomAD v4 |
6 | g.65402513A>T | CA450707785 | EYS | c.1149T>A (p.Ala383=) | |
6 | g.65402514G>A | CA364662329 | EYS | c.1148C>T (p.Ala383Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402514G>C | CA364662330 | EYS | c.1148C>G (p.Ala383Gly) | |
6 | g.65402514G= | CA1634216004 | EYS | c.1148C= (p.Ala383=) | |
6 | g.65402514G>T | CA364662331 | EYS | c.1148C>A (p.Ala383Asp) | gnomAD v4 |
6 | g.65402515C>A | CA364662332 | EYS | c.1147G>T (p.Ala383Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.65402515C= | CA1634216006 | EYS | c.1147G= (p.Ala383=) | |
6 | g.65402515C>G | CA364662333 | EYS | c.1147G>C (p.Ala383Pro) | |
6 | g.65402515C>T | CA3877856 | EYS | c.1147G>A (p.Ala383Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402515_65402516delinsTG | CA2499218490 | EYS | c.1146_1147delinsCA (p.Ala383Thr) | ClinVar |
6 | g.65402516A= | CA1630834435 | EYS | c.1146T= (p.Asn382=) | |
6 | g.65402516A>C | CA364662334 | EYS | c.1146T>G (p.Asn382Lys) | gnomAD v4 |
6 | g.65402516A>G | CA290793 | EYS | c.1146T>C (p.Asn382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402516A>T | CA364662335 | EYS | c.1146T>A (p.Asn382Lys) | gnomAD v4 |
6 | g.65402516_65402517insGGCG | CA2679289088 | EYS | c.1145_1146insCGCC (p.Thr384CysfsTer4) | gnomAD v4 |
6 | g.65402517T>A | CA3877857 | EYS | c.1145A>T (p.Asn382Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65402517T>C | CA3877858 | EYS | c.1145A>G (p.Asn382Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.65402517T>G | CA364662336 | EYS | c.1145A>C (p.Asn382Thr) | |
6 | g.65402517T= | CA1634216012 | EYS | c.1145A= (p.Asn382=) | |
6 | g.65402518T>A | CA364662338 | EYS | c.1144A>T (p.Asn382Tyr) | gnomAD v4 |
6 | g.65402518T>C | CA364662339 | EYS | c.1144A>G (p.Asn382Asp) | gnomAD v4 |
6 | g.65402518T>G | CA364662337 | EYS | c.1144A>C (p.Asn382His) | |
6 | g.65402519A= | CA1634216016 | EYS | c.1143T= (p.Asn381=) | |
6 | g.65402519A>C | CA364662341 | EYS | c.1143T>G (p.Asn381Lys) | |
6 | g.65402519A>G | CA450707786 | EYS | c.1143T>C (p.Asn381=) | gnomAD v4 |
6 | g.65402519A>T | CA364662340 | EYS | c.1143T>A (p.Asn381Lys) | dbSNP |
6 | g.65402520T>A | CA364662342 | EYS | c.1142A>T (p.Asn381Ile) | dbSNP |