| 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.108668355G>A | CA258916 | COL4A5 | c.3641G>A (p.Gly1214Glu) c.3317G>A (p.Gly1106Glu) c.1214G>A (p.Gly405Glu) c.3656G>A (p.Gly1219Glu) c.1976G>A (p.Gly659Glu) | dbSNP |
| X | g.108668355G>C | CA413848470 | COL4A5 | c.3641G>C (p.Gly1214Ala) c.3317G>C (p.Gly1106Ala) c.1214G>C (p.Gly405Ala) c.3656G>C (p.Gly1219Ala) c.1976G>C (p.Gly659Ala) | |
| X | g.108668355G= | CA2450712928 | COL4A5 | c.3641G= (p.Gly1214=) c.3317G= (p.Gly1106=) c.1214G= (p.Gly405=) c.3656G= (p.Gly1219=) c.1976G= (p.Gly659=) | |
| X | g.108668355G>T | CA413848468 | COL4A5 | c.3641G>T (p.Gly1214Val) c.3317G>T (p.Gly1106Val) c.1214G>T (p.Gly405Val) c.3656G>T (p.Gly1219Val) c.1976G>T (p.Gly659Val) | |
| X | g.108668356A>C | CA517922571 | COL4A5 | c.3642A>C (p.Gly1214=) c.3318A>C (p.Gly1106=) c.1215A>C (p.Gly405=) c.3657A>C (p.Gly1219=) c.1977A>C (p.Gly659=) | |
| X | g.108668356A>G | CA517922572 | COL4A5 | c.3642A>G (p.Gly1214=) c.3318A>G (p.Gly1106=) c.1215A>G (p.Gly405=) c.3657A>G (p.Gly1219=) c.1977A>G (p.Gly659=) | |
| X | g.108668356A>T | CA517922573 | COL4A5 | c.3642A>T (p.Gly1214=) c.3318A>T (p.Gly1106=) c.1215A>T (p.Gly405=) c.3657A>T (p.Gly1219=) c.1977A>T (p.Gly659=) | |
| X | g.108668357A= | CA2450712929 | COL4A5 | c.3643A= (p.Asn1215=) c.3319A= (p.Asn1107=) c.1216A= (p.Asn406=) c.3658A= (p.Asn1220=) c.1978A= (p.Asn660=) | |
| X | g.108668357A>C | CA413848473 | COL4A5 | c.3643A>C (p.Asn1215His) c.3319A>C (p.Asn1107His) c.1216A>C (p.Asn406His) c.3658A>C (p.Asn1220His) c.1978A>C (p.Asn660His) | |
| X | g.108668357A>G | CA413848476 | COL4A5 | c.3643A>G (p.Asn1215Asp) c.3319A>G (p.Asn1107Asp) c.1216A>G (p.Asn406Asp) c.3658A>G (p.Asn1220Asp) c.1978A>G (p.Asn660Asp) | dbSNP |
| X | g.108668357A>T | CA413848474 | COL4A5 | c.3643A>T (p.Asn1215Tyr) c.3319A>T (p.Asn1107Tyr) c.1216A>T (p.Asn406Tyr) c.3658A>T (p.Asn1220Tyr) c.1978A>T (p.Asn660Tyr) | |
| X | g.108668358A>C | CA413848479 | COL4A5 | c.3644A>C (p.Asn1215Thr) c.3320A>C (p.Asn1107Thr) c.1217A>C (p.Asn406Thr) c.3659A>C (p.Asn1220Thr) c.1979A>C (p.Asn660Thr) | |
| X | g.108668358A>G | CA413848480 | COL4A5 | c.3644A>G (p.Asn1215Ser) c.3320A>G (p.Asn1107Ser) c.1217A>G (p.Asn406Ser) c.3659A>G (p.Asn1220Ser) c.1979A>G (p.Asn660Ser) | |
| X | g.108668358A>T | CA413848483 | COL4A5 | c.3644A>T (p.Asn1215Ile) c.3320A>T (p.Asn1107Ile) c.1217A>T (p.Asn406Ile) c.3659A>T (p.Asn1220Ile) c.1979A>T (p.Asn660Ile) | |
| X | g.108668359T>A | CA413848485 | COL4A5 | c.3645T>A (p.Asn1215Lys) c.3321T>A (p.Asn1107Lys) c.1218T>A (p.Asn406Lys) c.3660T>A (p.Asn1220Lys) c.1980T>A (p.Asn660Lys) | |
| X | g.108668359T>C | CA517922574 | COL4A5 | c.3645T>C (p.Asn1215=) c.3321T>C (p.Asn1107=) c.1218T>C (p.Asn406=) c.3660T>C (p.Asn1220=) c.1980T>C (p.Asn660=) | |
| X | g.108668359T>G | CA413848486 | COL4A5 | c.3645T>G (p.Asn1215Lys) c.3321T>G (p.Asn1107Lys) c.1218T>G (p.Asn406Lys) c.3660T>G (p.Asn1220Lys) c.1980T>G (p.Asn660Lys) | |
| X | g.108668359_108668360delinsTC | CA2450712930 | COL4A5 | c.3645_3646delinsTC (p.Asn1215=) c.3321_3322delinsTC (p.Asn1107=) c.1218_1219delinsTC (p.Asn406=) c.3660_3661delinsTC (p.Asn1220=) c.1980_1981delinsTC (p.Asn660=) | |
| X | g.108668360C>A | CA413848489 | COL4A5 | c.3646C>A (p.Pro1216Thr) c.3322C>A (p.Pro1108Thr) c.1219C>A (p.Pro407Thr) c.3661C>A (p.Pro1221Thr) c.1981C>A (p.Pro661Thr) | |
| X | g.108668360C= | CA2450712931 | COL4A5 | c.3646C= (p.Pro1216=) c.3322C= (p.Pro1108=) c.1219C= (p.Pro407=) c.3661C= (p.Pro1221=) c.1981C= (p.Pro661=) | |
| X | g.108668360C>G | CA413848491 | COL4A5 | c.3646C>G (p.Pro1216Ala) c.3322C>G (p.Pro1108Ala) c.1219C>G (p.Pro407Ala) c.3661C>G (p.Pro1221Ala) c.1981C>G (p.Pro661Ala) | |
| X | g.108668360C>T | CA10489156 | COL4A5 | c.3646C>T (p.Pro1216Ser) c.3322C>T (p.Pro1108Ser) c.1219C>T (p.Pro407Ser) c.3661C>T (p.Pro1221Ser) c.1981C>T (p.Pro661Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108668361del | CA258919 | COL4A5 | c.3647del (p.Pro1216LeufsTer?) c.3323del (p.Pro1108LeufsTer?) c.1220del (p.Pro407LeufsTer?) c.3662del (p.Pro1221LeufsTer?) c.1982del (p.Pro661LeufsTer?) | dbSNP |
| X | g.108668361C>A | CA413848495 | COL4A5 | c.3647C>A (p.Pro1216His) c.3323C>A (p.Pro1108His) c.1220C>A (p.Pro407His) c.3662C>A (p.Pro1221His) c.1982C>A (p.Pro661His) | |
| X | g.108668361C= | CA2450712932 | COL4A5 | c.3647C= (p.Pro1216=) c.3323C= (p.Pro1108=) c.1220C= (p.Pro407=) c.3662C= (p.Pro1221=) c.1982C= (p.Pro661=) | |
| X | g.108668361C>G | CA413848497 | COL4A5 | c.3647C>G (p.Pro1216Arg) c.3323C>G (p.Pro1108Arg) c.1220C>G (p.Pro407Arg) c.3662C>G (p.Pro1221Arg) c.1982C>G (p.Pro661Arg) | |
| X | g.108668361C>T | CA413848499 | COL4A5 | c.3647C>T (p.Pro1216Leu) c.3323C>T (p.Pro1108Leu) c.1220C>T (p.Pro407Leu) c.3662C>T (p.Pro1221Leu) c.1982C>T (p.Pro661Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668362T>A | CA517922575 | COL4A5 | c.3648T>A (p.Pro1216=) c.3324T>A (p.Pro1108=) c.1221T>A (p.Pro407=) c.3663T>A (p.Pro1221=) c.1983T>A (p.Pro661=) | |
| X | g.108668362T>C | CA517922576 | COL4A5 | c.3648T>C (p.Pro1216=) c.3324T>C (p.Pro1108=) c.1221T>C (p.Pro407=) c.3663T>C (p.Pro1221=) c.1983T>C (p.Pro661=) | |
| X | g.108668362T>G | CA517922577 | COL4A5 | c.3648T>G (p.Pro1216=) c.3324T>G (p.Pro1108=) c.1221T>G (p.Pro407=) c.3663T>G (p.Pro1221=) c.1983T>G (p.Pro661=) | |
| 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=) |