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.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
| X | g.108668363G>A | CA413848501 | COL4A5 | c.3649G>A (p.Gly1217Ser) c.3325G>A (p.Gly1109Ser) c.1222G>A (p.Gly408Ser) c.3664G>A (p.Gly1222Ser) c.1984G>A (p.Gly662Ser) | |
| X | g.108668363G>C | CA413848504 | COL4A5 | c.3649G>C (p.Gly1217Arg) c.3325G>C (p.Gly1109Arg) c.1222G>C (p.Gly408Arg) c.3664G>C (p.Gly1222Arg) c.1984G>C (p.Gly662Arg) | |
| X | g.108668363G>T | CA413848502 | COL4A5 | c.3649G>T (p.Gly1217Cys) c.3325G>T (p.Gly1109Cys) c.1222G>T (p.Gly408Cys) c.3664G>T (p.Gly1222Cys) c.1984G>T (p.Gly662Cys) | |
| X | g.108668364G>A | CA413848506 | COL4A5 | c.3650G>A (p.Gly1217Asp) c.3326G>A (p.Gly1109Asp) c.1223G>A (p.Gly408Asp) c.3665G>A (p.Gly1222Asp) c.1985G>A (p.Gly662Asp) | ClinVar |
| X | g.108668364G>C | CA413848508 | COL4A5 | c.3650G>C (p.Gly1217Ala) c.3326G>C (p.Gly1109Ala) c.1223G>C (p.Gly408Ala) c.3665G>C (p.Gly1222Ala) c.1985G>C (p.Gly662Ala) | |
| X | g.108668364G= | CA2450712933 | COL4A5 | c.3650G= (p.Gly1217=) c.3326G= (p.Gly1109=) c.1223G= (p.Gly408=) c.3665G= (p.Gly1222=) c.1985G= (p.Gly662=) | |
| X | g.108668364G>T | CA413848510 | COL4A5 | c.3650G>T (p.Gly1217Val) c.3326G>T (p.Gly1109Val) c.1223G>T (p.Gly408Val) c.3665G>T (p.Gly1222Val) c.1985G>T (p.Gly662Val) | |
| X | g.108668365C>A | CA517922578 | COL4A5 | c.3651C>A (p.Gly1217=) c.3327C>A (p.Gly1109=) c.1224C>A (p.Gly408=) c.3666C>A (p.Gly1222=) c.1986C>A (p.Gly662=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668365C= | CA2450712934 | COL4A5 | c.3651C= (p.Gly1217=) c.3327C= (p.Gly1109=) c.1224C= (p.Gly408=) c.3666C= (p.Gly1222=) c.1986C= (p.Gly662=) | |
| X | g.108668365C>G | CA517922579 | COL4A5 | c.3651C>G (p.Gly1217=) c.3327C>G (p.Gly1109=) c.1224C>G (p.Gly408=) c.3666C>G (p.Gly1222=) c.1986C>G (p.Gly662=) | |
| X | g.108668365C>T | CA517922580 | COL4A5 | c.3651C>T (p.Gly1217=) c.3327C>T (p.Gly1109=) c.1224C>T (p.Gly408=) c.3666C>T (p.Gly1222=) c.1986C>T (p.Gly662=) | |
| X | g.108668366C>A | CA413848512 | COL4A5 | c.3652C>A (p.Leu1218Ile) c.3328C>A (p.Leu1110Ile) c.1225C>A (p.Leu409Ile) c.3667C>A (p.Leu1223Ile) c.1987C>A (p.Leu663Ile) | |
| X | g.108668366C>G | CA413848514 | COL4A5 | c.3652C>G (p.Leu1218Val) c.3328C>G (p.Leu1110Val) c.1225C>G (p.Leu409Val) c.3667C>G (p.Leu1223Val) c.1987C>G (p.Leu663Val) | |
| X | g.108668366C>T | CA413848516 | COL4A5 | c.3652C>T (p.Leu1218Phe) c.3328C>T (p.Leu1110Phe) c.1225C>T (p.Leu409Phe) c.3667C>T (p.Leu1223Phe) c.1987C>T (p.Leu663Phe) | ClinVar dbSNP |
| X | g.108668369_108668394del | CA2697544720 | COL4A5 | c.3655_3680del (p.Pro1219SerfsTer24) c.3331_3356del (p.Pro1111SerfsTer24) c.1228_1253del (p.Pro410SerfsTer24) c.3670_3695del (p.Pro1224SerfsTer24) c.1990_2015del (p.Pro664SerfsTer24) | ClinVar |
| X | g.108668367T>A | CA413848520 | COL4A5 | c.3653T>A (p.Leu1218His) c.3329T>A (p.Leu1110His) c.1226T>A (p.Leu409His) c.3668T>A (p.Leu1223His) c.1988T>A (p.Leu663His) | |
| X | g.108668367T>C | CA413848522 | COL4A5 | c.3653T>C (p.Leu1218Pro) c.3329T>C (p.Leu1110Pro) c.1226T>C (p.Leu409Pro) c.3668T>C (p.Leu1223Pro) c.1988T>C (p.Leu663Pro) | |
| X | g.108668367T>G | CA413848523 | COL4A5 | c.3653T>G (p.Leu1218Arg) c.3329T>G (p.Leu1110Arg) c.1226T>G (p.Leu409Arg) c.3668T>G (p.Leu1223Arg) c.1988T>G (p.Leu663Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668367T= | CA2450712936 | COL4A5 | c.3653T= (p.Leu1218=) c.3329T= (p.Leu1110=) c.1226T= (p.Leu409=) c.3668T= (p.Leu1223=) c.1988T= (p.Leu663=) | |
| X | g.108668367_108668439delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC | CA2450712935 | COL4A5 | c.3653_3725delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1218=) c.3329_3401delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1110=) c.1226_1298delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu409=) c.3668_3740delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu1223=) c.1988_2060delinsTTCCAGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTC (p.Leu663=) | |
| X | g.108668368T>A | CA517922643 | COL4A5 | c.3654T>A (p.Leu1218=) c.3330T>A (p.Leu1110=) c.1227T>A (p.Leu409=) c.3669T>A (p.Leu1223=) c.1989T>A (p.Leu663=) | |
| X | g.108668368T>C | CA517922645 | COL4A5 | c.3654T>C (p.Leu1218=) c.3330T>C (p.Leu1110=) c.1227T>C (p.Leu409=) c.3669T>C (p.Leu1223=) c.1989T>C (p.Leu663=) | |
| X | g.108668368T>G | CA517922646 | COL4A5 | c.3654T>G (p.Leu1218=) c.3330T>G (p.Leu1110=) c.1227T>G (p.Leu409=) c.3669T>G (p.Leu1223=) c.1989T>G (p.Leu663=) | |
| X | g.108668371_108668442del | CA258920 | COL4A5 | c.3657_3728del (p.Gly1220_Pro1243del) c.3333_3404del (p.Gly1112_Pro1135del) c.1230_1301del (p.Gly411_Pro434del) c.3672_3743del (p.Gly1225_Pro1248del) c.1992_2063del (p.Gly665_Pro688del) | dbSNP |
| X | g.108668369C>A | CA413848529 | COL4A5 | c.3655C>A (p.Pro1219Thr) c.3331C>A (p.Pro1111Thr) c.1228C>A (p.Pro410Thr) c.3670C>A (p.Pro1224Thr) c.1990C>A (p.Pro664Thr) | |
| X | g.108668369C>G | CA413848531 | COL4A5 | c.3655C>G (p.Pro1219Ala) c.3331C>G (p.Pro1111Ala) c.1228C>G (p.Pro410Ala) c.3670C>G (p.Pro1224Ala) c.1990C>G (p.Pro664Ala) | |
| X | g.108668369C>T | CA413848527 | COL4A5 | c.3655C>T (p.Pro1219Ser) c.3331C>T (p.Pro1111Ser) c.1228C>T (p.Pro410Ser) c.3670C>T (p.Pro1224Ser) c.1990C>T (p.Pro664Ser) | COSMIC COSMIC |
| X | g.108668370del | CA2579676917 | COL4A5 | c.3656del (p.Pro1219GlnfsTer?) c.3332del (p.Pro1111GlnfsTer?) c.1229del (p.Pro410GlnfsTer?) c.3671del (p.Pro1224GlnfsTer?) c.1991del (p.Pro664GlnfsTer?) | |
| X | g.108668370C>A | CA413848533 | COL4A5 | c.3656C>A (p.Pro1219Gln) c.3332C>A (p.Pro1111Gln) c.1229C>A (p.Pro410Gln) c.3671C>A (p.Pro1224Gln) c.1991C>A (p.Pro664Gln) | |
| X | g.108668370C>G | CA413848535 | COL4A5 | c.3656C>G (p.Pro1219Arg) c.3332C>G (p.Pro1111Arg) c.1229C>G (p.Pro410Arg) c.3671C>G (p.Pro1224Arg) c.1991C>G (p.Pro664Arg) | |
| X | g.108668370C>T | CA413848538 | COL4A5 | c.3656C>T (p.Pro1219Leu) c.3332C>T (p.Pro1111Leu) c.1229C>T (p.Pro410Leu) c.3671C>T (p.Pro1224Leu) c.1991C>T (p.Pro664Leu) | ClinVar COSMIC COSMIC |
| X | g.108668371A>C | CA517922650 | COL4A5 | c.3657A>C (p.Pro1219=) c.3333A>C (p.Pro1111=) c.1230A>C (p.Pro410=) c.3672A>C (p.Pro1224=) c.1992A>C (p.Pro664=) | |
| X | g.108668371A>G | CA517922652 | COL4A5 | c.3657A>G (p.Pro1219=) c.3333A>G (p.Pro1111=) c.1230A>G (p.Pro410=) c.3672A>G (p.Pro1224=) c.1992A>G (p.Pro664=) | COSMIC COSMIC |
| X | g.108668371A>T | CA517922654 | COL4A5 | c.3657A>T (p.Pro1219=) c.3333A>T (p.Pro1111=) c.1230A>T (p.Pro410=) c.3672A>T (p.Pro1224=) c.1992A>T (p.Pro664=) | |
| X | g.108668372G>A | CA413848541 | COL4A5 | c.3658G>A (p.Gly1220Ser) c.3334G>A (p.Gly1112Ser) c.1231G>A (p.Gly411Ser) c.3673G>A (p.Gly1225Ser) c.1993G>A (p.Gly665Ser) | |
| X | g.108668372G>C | CA413848543 | COL4A5 | c.3658G>C (p.Gly1220Arg) c.3334G>C (p.Gly1112Arg) c.1231G>C (p.Gly411Arg) c.3673G>C (p.Gly1225Arg) c.1993G>C (p.Gly665Arg) | |
| X | g.108668372G>T | CA413848545 | COL4A5 | c.3658G>T (p.Gly1220Cys) c.3334G>T (p.Gly1112Cys) c.1231G>T (p.Gly411Cys) c.3673G>T (p.Gly1225Cys) c.1993G>T (p.Gly665Cys) | |
| X | g.108668373G>A | CA258923 | COL4A5 | c.3659G>A (p.Gly1220Asp) c.3335G>A (p.Gly1112Asp) c.1232G>A (p.Gly411Asp) c.3674G>A (p.Gly1225Asp) c.1994G>A (p.Gly665Asp) | ClinVar dbSNP |
| X | g.108668373G>C | CA413848550 | COL4A5 | c.3659G>C (p.Gly1220Ala) c.3335G>C (p.Gly1112Ala) c.1232G>C (p.Gly411Ala) c.3674G>C (p.Gly1225Ala) c.1994G>C (p.Gly665Ala) | |
| X | g.108668373G= | CA2450712937 | COL4A5 | c.3659G= (p.Gly1220=) c.3335G= (p.Gly1112=) c.1232G= (p.Gly411=) c.3674G= (p.Gly1225=) c.1994G= (p.Gly665=) | |
| X | g.108668373G>T | CA413848553 | COL4A5 | c.3659G>T (p.Gly1220Val) c.3335G>T (p.Gly1112Val) c.1232G>T (p.Gly411Val) c.3674G>T (p.Gly1225Val) c.1994G>T (p.Gly665Val) | ClinVar dbSNP |
| X | g.108668374T>A | CA517922656 | COL4A5 | c.3660T>A (p.Gly1220=) c.3336T>A (p.Gly1112=) c.1233T>A (p.Gly411=) c.3675T>A (p.Gly1225=) c.1995T>A (p.Gly665=) | |
| X | g.108668374T>C | CA517922658 | COL4A5 | c.3660T>C (p.Gly1220=) c.3336T>C (p.Gly1112=) c.1233T>C (p.Gly411=) c.3675T>C (p.Gly1225=) c.1995T>C (p.Gly665=) | |
| X | g.108668374T>G | CA517922660 | COL4A5 | c.3660T>G (p.Gly1220=) c.3336T>G (p.Gly1112=) c.1233T>G (p.Gly411=) c.3675T>G (p.Gly1225=) c.1995T>G (p.Gly665=) | |
| X | g.108668375C>A | CA413848555 | COL4A5 | c.3661C>A (p.Pro1221Thr) c.3337C>A (p.Pro1113Thr) c.1234C>A (p.Pro412Thr) c.3676C>A (p.Pro1226Thr) c.1996C>A (p.Pro666Thr) | |
| X | g.108668375C>G | CA413848558 | COL4A5 | c.3661C>G (p.Pro1221Ala) c.3337C>G (p.Pro1113Ala) c.1234C>G (p.Pro412Ala) c.3676C>G (p.Pro1226Ala) c.1996C>G (p.Pro666Ala) | |
| X | g.108668375C>T | CA413848561 | COL4A5 | c.3661C>T (p.Pro1221Ser) c.3337C>T (p.Pro1113Ser) c.1234C>T (p.Pro412Ser) c.3676C>T (p.Pro1226Ser) c.1996C>T (p.Pro666Ser) | COSMIC COSMIC |
| X | g.108668376C>A | CA413848569 | COL4A5 | c.3662C>A (p.Pro1221Gln) c.3338C>A (p.Pro1113Gln) c.1235C>A (p.Pro412Gln) c.3677C>A (p.Pro1226Gln) c.1997C>A (p.Pro666Gln) | |
| X | g.108668376C= | CA2450712938 | COL4A5 | c.3662C= (p.Pro1221=) c.3338C= (p.Pro1113=) c.1235C= (p.Pro412=) c.3677C= (p.Pro1226=) c.1997C= (p.Pro666=) |