UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108667144T>A | CA413848055 | COL4A5 | c.3565T>A (p.Phe1189Ile) c.3241T>A (p.Phe1081Ile) c.1138T>A (p.Phe380Ile) c.3580T>A (p.Phe1194Ile) c.1900T>A (p.Phe634Ile) | |
| X | g.108667144T>C | CA413848057 | COL4A5 | c.3565T>C (p.Phe1189Leu) c.3241T>C (p.Phe1081Leu) c.1138T>C (p.Phe380Leu) c.3580T>C (p.Phe1194Leu) c.1900T>C (p.Phe634Leu) | gnomAD v4 |
| X | g.108667144T>G | CA413848059 | COL4A5 | c.3565T>G (p.Phe1189Val) c.3241T>G (p.Phe1081Val) c.1138T>G (p.Phe380Val) c.3580T>G (p.Phe1194Val) c.1900T>G (p.Phe634Val) | |
| X | g.108667145T>A | CA413848062 | COL4A5 | c.3566T>A (p.Phe1189Tyr) c.3242T>A (p.Phe1081Tyr) c.1139T>A (p.Phe380Tyr) c.3581T>A (p.Phe1194Tyr) c.1901T>A (p.Phe634Tyr) | gnomAD v4 |
| X | g.108667145T>C | CA413848064 | COL4A5 | c.3566T>C (p.Phe1189Ser) c.3242T>C (p.Phe1081Ser) c.1139T>C (p.Phe380Ser) c.3581T>C (p.Phe1194Ser) c.1901T>C (p.Phe634Ser) | |
| X | g.108667145T>G | CA413848066 | COL4A5 | c.3566T>G (p.Phe1189Cys) c.3242T>G (p.Phe1081Cys) c.1139T>G (p.Phe380Cys) c.3581T>G (p.Phe1194Cys) c.1901T>G (p.Phe634Cys) | |
| X | g.108667146T>A | CA413848068 | COL4A5 | c.3567T>A (p.Phe1189Leu) c.3243T>A (p.Phe1081Leu) c.1140T>A (p.Phe380Leu) c.3582T>A (p.Phe1194Leu) c.1902T>A (p.Phe634Leu) | |
| X | g.108667146T>C | CA517922475 | COL4A5 | c.3567T>C (p.Phe1189=) c.3243T>C (p.Phe1081=) c.1140T>C (p.Phe380=) c.3582T>C (p.Phe1194=) c.1902T>C (p.Phe634=) | |
| X | g.108667146T>G | CA413848070 | COL4A5 | c.3567T>G (p.Phe1189Leu) c.3243T>G (p.Phe1081Leu) c.1140T>G (p.Phe380Leu) c.3582T>G (p.Phe1194Leu) c.1902T>G (p.Phe634Leu) | |
| X | g.108667147G>A | CA413848077 | COL4A5 | c.3568G>A (p.Gly1190Arg) c.3244G>A (p.Gly1082Arg) c.1141G>A (p.Gly381Arg) c.3583G>A (p.Gly1195Arg) c.1903G>A (p.Gly635Arg) | |
| X | g.108667147G>C | CA413848075 | COL4A5 | c.3568G>C (p.Gly1190Arg) c.3244G>C (p.Gly1082Arg) c.1141G>C (p.Gly381Arg) c.3583G>C (p.Gly1195Arg) c.1903G>C (p.Gly635Arg) | |
| X | g.108667147G>T | CA413848073 | COL4A5 | c.3568G>T (p.Gly1190Ter) c.3244G>T (p.Gly1082Ter) c.1141G>T (p.Gly381Ter) c.3583G>T (p.Gly1195Ter) c.1903G>T (p.Gly635Ter) | |
| X | g.108667148G>A | CA413848079 | COL4A5 | c.3569G>A (p.Gly1190Glu) c.3245G>A (p.Gly1082Glu) c.1142G>A (p.Gly381Glu) c.3584G>A (p.Gly1195Glu) c.1904G>A (p.Gly635Glu) | |
| X | g.108667148G>C | CA413848081 | COL4A5 | c.3569G>C (p.Gly1190Ala) c.3245G>C (p.Gly1082Ala) c.1142G>C (p.Gly381Ala) c.3584G>C (p.Gly1195Ala) c.1904G>C (p.Gly635Ala) | |
| X | g.108667148G>T | CA413848083 | COL4A5 | c.3569G>T (p.Gly1190Val) c.3245G>T (p.Gly1082Val) c.1142G>T (p.Gly381Val) c.3584G>T (p.Gly1195Val) c.1904G>T (p.Gly635Val) | |
| X | g.108667149A= | CA2450712537 | COL4A5 | c.3570A= (p.Gly1190=) c.3246A= (p.Gly1082=) c.1143A= (p.Gly381=) c.3585A= (p.Gly1195=) c.1905A= (p.Gly635=) | |
| X | g.108667149A>C | CA517922482 | COL4A5 | c.3570A>C (p.Gly1190=) c.3246A>C (p.Gly1082=) c.1143A>C (p.Gly381=) c.3585A>C (p.Gly1195=) c.1905A>C (p.Gly635=) | |
| X | g.108667149A>G | CA517922483 | COL4A5 | c.3570A>G (p.Gly1190=) c.3246A>G (p.Gly1082=) c.1143A>G (p.Gly381=) c.3585A>G (p.Gly1195=) c.1905A>G (p.Gly635=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108667149A>T | CA517922481 | COL4A5 | c.3570A>T (p.Gly1190=) c.3246A>T (p.Gly1082=) c.1143A>T (p.Gly381=) c.3585A>T (p.Gly1195=) c.1905A>T (p.Gly635=) | |
| X | g.108667150A>C | CA413848085 | COL4A5 | c.3571A>C (p.Asn1191His) c.3247A>C (p.Asn1083His) c.1144A>C (p.Asn382His) c.3586A>C (p.Asn1196His) c.1906A>C (p.Asn636His) | |
| X | g.108667150A>G | CA413848086 | COL4A5 | c.3571A>G (p.Asn1191Asp) c.3247A>G (p.Asn1083Asp) c.1144A>G (p.Asn382Asp) c.3586A>G (p.Asn1196Asp) c.1906A>G (p.Asn636Asp) | |
| X | g.108667150A>T | CA413848088 | COL4A5 | c.3571A>T (p.Asn1191Tyr) c.3247A>T (p.Asn1083Tyr) c.1144A>T (p.Asn382Tyr) c.3586A>T (p.Asn1196Tyr) c.1906A>T (p.Asn636Tyr) | |
| X | g.108667151A>C | CA413848090 | COL4A5 | c.3572A>C (p.Asn1191Thr) c.3248A>C (p.Asn1083Thr) c.1145A>C (p.Asn382Thr) c.3587A>C (p.Asn1196Thr) c.1907A>C (p.Asn636Thr) | |
| X | g.108667151A>G | CA413848092 | COL4A5 | c.3572A>G (p.Asn1191Ser) c.3248A>G (p.Asn1083Ser) c.1145A>G (p.Asn382Ser) c.3587A>G (p.Asn1196Ser) c.1907A>G (p.Asn636Ser) | COSMIC COSMIC |
| X | g.108667151A>T | CA413848094 | COL4A5 | c.3572A>T (p.Asn1191Ile) c.3248A>T (p.Asn1083Ile) c.1145A>T (p.Asn382Ile) c.3587A>T (p.Asn1196Ile) c.1907A>T (p.Asn636Ile) | |
| X | g.108667152C>A | CA413848097 | COL4A5 | c.3573C>A (p.Asn1191Lys) c.3249C>A (p.Asn1083Lys) c.1146C>A (p.Asn382Lys) c.3588C>A (p.Asn1196Lys) c.1908C>A (p.Asn636Lys) | |
| X | g.108667152C= | CA2450712538 | COL4A5 | c.3573C= (p.Asn1191=) c.3249C= (p.Asn1083=) c.1146C= (p.Asn382=) c.3588C= (p.Asn1196=) c.1908C= (p.Asn636=) | |
| X | g.108667152C>G | CA413848098 | COL4A5 | c.3573C>G (p.Asn1191Lys) c.3249C>G (p.Asn1083Lys) c.1146C>G (p.Asn382Lys) c.3588C>G (p.Asn1196Lys) c.1908C>G (p.Asn636Lys) | |
| X | g.108667152C>T | CA10489135 | COL4A5 | c.3573C>T (p.Asn1191=) c.3249C>T (p.Asn1083=) c.1146C>T (p.Asn382=) c.3588C>T (p.Asn1196=) c.1908C>T (p.Asn636=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108667153C>A | CA413848104 | COL4A5 | c.3574C>A (p.Pro1192Thr) c.3250C>A (p.Pro1084Thr) c.1147C>A (p.Pro383Thr) c.3589C>A (p.Pro1197Thr) c.1909C>A (p.Pro637Thr) | |
| X | g.108667153C>G | CA413848102 | COL4A5 | c.3574C>G (p.Pro1192Ala) c.3250C>G (p.Pro1084Ala) c.1147C>G (p.Pro383Ala) c.3589C>G (p.Pro1197Ala) c.1909C>G (p.Pro637Ala) | |
| X | g.108667153C>T | CA413848101 | COL4A5 | c.3574C>T (p.Pro1192Ser) c.3250C>T (p.Pro1084Ser) c.1147C>T (p.Pro383Ser) c.3589C>T (p.Pro1197Ser) c.1909C>T (p.Pro637Ser) | |
| X | g.108667154C>A | CA413848107 | COL4A5 | c.3575C>A (p.Pro1192Gln) c.3251C>A (p.Pro1084Gln) c.1148C>A (p.Pro383Gln) c.3590C>A (p.Pro1197Gln) c.1910C>A (p.Pro637Gln) | |
| X | g.108667154C>G | CA413848109 | COL4A5 | c.3575C>G (p.Pro1192Arg) c.3251C>G (p.Pro1084Arg) c.1148C>G (p.Pro383Arg) c.3590C>G (p.Pro1197Arg) c.1910C>G (p.Pro637Arg) | |
| X | g.108667154C>T | CA413848111 | COL4A5 | c.3575C>T (p.Pro1192Leu) c.3251C>T (p.Pro1084Leu) c.1148C>T (p.Pro383Leu) c.3590C>T (p.Pro1197Leu) c.1910C>T (p.Pro637Leu) | |
| X | g.108667155A= | CA2450712539 | COL4A5 | c.3576A= (p.Pro1192=) c.3252A= (p.Pro1084=) c.1149A= (p.Pro383=) c.3591A= (p.Pro1197=) c.1911A= (p.Pro637=) | |
| X | g.108667155A>C | CA517922489 | COL4A5 | c.3576A>C (p.Pro1192=) c.3252A>C (p.Pro1084=) c.1149A>C (p.Pro383=) c.3591A>C (p.Pro1197=) c.1911A>C (p.Pro637=) | |
| X | g.108667155A>G | CA517922491 | COL4A5 | c.3576A>G (p.Pro1192=) c.3252A>G (p.Pro1084=) c.1149A>G (p.Pro383=) c.3591A>G (p.Pro1197=) c.1911A>G (p.Pro637=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108667155A>T | CA517922492 | COL4A5 | c.3576A>T (p.Pro1192=) c.3252A>T (p.Pro1084=) c.1149A>T (p.Pro383=) c.3591A>T (p.Pro1197=) c.1911A>T (p.Pro637=) | |
| X | g.108667156G>A | CA413848113 | COL4A5 | c.3577G>A (p.Gly1193Arg) c.3253G>A (p.Gly1085Arg) c.1150G>A (p.Gly384Arg) c.3592G>A (p.Gly1198Arg) c.1912G>A (p.Gly638Arg) | |
| X | g.108667156G>C | CA413848116 | COL4A5 | c.3577G>C (p.Gly1193Arg) c.3253G>C (p.Gly1085Arg) c.1150G>C (p.Gly384Arg) c.3592G>C (p.Gly1198Arg) c.1912G>C (p.Gly638Arg) | |
| X | g.108667156G>T | CA413848118 | COL4A5 | c.3577G>T (p.Gly1193Ter) c.3253G>T (p.Gly1085Ter) c.1150G>T (p.Gly384Ter) c.3592G>T (p.Gly1198Ter) c.1912G>T (p.Gly638Ter) | |
| X | g.108667157del | CA2695235650 | COL4A5 | c.3578del (p.Gly1193AspfsTer?) c.3254del (p.Gly1085AspfsTer?) c.1151del (p.Gly384AspfsTer?) c.3593del (p.Gly1198AspfsTer?) c.1913del (p.Gly638AspfsTer?) | |
| X | g.108667157G>A | CA413848121 | COL4A5 | c.3578G>A (p.Gly1193Glu) c.3254G>A (p.Gly1085Glu) c.1151G>A (p.Gly384Glu) c.3593G>A (p.Gly1198Glu) c.1913G>A (p.Gly638Glu) | |
| X | g.108667157G>C | CA413848122 | COL4A5 | c.3578G>C (p.Gly1193Ala) c.3254G>C (p.Gly1085Ala) c.1151G>C (p.Gly384Ala) c.3593G>C (p.Gly1198Ala) c.1913G>C (p.Gly638Ala) | |
| X | g.108667157G>T | CA413848125 | COL4A5 | c.3578G>T (p.Gly1193Val) c.3254G>T (p.Gly1085Val) c.1151G>T (p.Gly384Val) c.3593G>T (p.Gly1198Val) c.1913G>T (p.Gly638Val) | |
| X | g.108667158A>C | CA517922495 | COL4A5 | c.3579A>C (p.Gly1193=) c.3255A>C (p.Gly1085=) c.1152A>C (p.Gly384=) c.3594A>C (p.Gly1198=) c.1914A>C (p.Gly638=) | |
| X | g.108667158A>G | CA517922497 | COL4A5 | c.3579A>G (p.Gly1193=) c.3255A>G (p.Gly1085=) c.1152A>G (p.Gly384=) c.3594A>G (p.Gly1198=) c.1914A>G (p.Gly638=) | |
| X | g.108667158A>T | CA517922498 | COL4A5 | c.3579A>T (p.Gly1193=) c.3255A>T (p.Gly1085=) c.1152A>T (p.Gly384=) c.3594A>T (p.Gly1198=) c.1914A>T (p.Gly638=) | |
| X | g.108667159C>A | CA10489136 | COL4A5 | c.3580C>A (p.Pro1194Thr) c.3256C>A (p.Pro1086Thr) c.1153C>A (p.Pro385Thr) c.3595C>A (p.Pro1199Thr) c.1915C>A (p.Pro639Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |