| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110173908C>A | CA388664114 | COL4A1 | c.3497G>T (p.Gly1166Val) c.3305G>T (p.Gly1102Val) | ClinVar dbSNP |
| 13 | g.110173908C= | CA2118737020 | COL4A1 | c.3497G= (p.Gly1166=) c.3305G= (p.Gly1102=) | |
| 13 | g.110173908C>G | CA388664115 | COL4A1 | c.3497G>C (p.Gly1166Ala) c.3305G>C (p.Gly1102Ala) | |
| 13 | g.110173908C>T | CA388664116 | COL4A1 | c.3497G>A (p.Gly1166Asp) c.3305G>A (p.Gly1102Asp) | ClinVar |
| 13 | g.110173909C>A | CA7047255 | COL4A1 | c.3496G>T (p.Gly1166Cys) c.3304G>T (p.Gly1102Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173909C= | CA2118737026 | COL4A1 | c.3496G= (p.Gly1166=) c.3304G= (p.Gly1102=) | |
| 13 | g.110173909C>G | CA388664117 | COL4A1 | c.3496G>C (p.Gly1166Arg) c.3304G>C (p.Gly1102Arg) | |
| 13 | g.110173909C>T | CA388664118 | COL4A1 | c.3496G>A (p.Gly1166Ser) c.3304G>A (p.Gly1102Ser) | |
| 13 | g.110173910C>A | CA388664120 | COL4A1 | c.3495G>T (p.Lys1165Asn) c.3303G>T (p.Lys1101Asn) | |
| 13 | g.110173910C= | CA2118737031 | COL4A1 | c.3495G= (p.Lys1165=) c.3303G= (p.Lys1101=) | |
| 13 | g.110173910C>G | CA388664119 | COL4A1 | c.3495G>C (p.Lys1165Asn) c.3303G>C (p.Lys1101Asn) | ClinVar dbSNP |
| 13 | g.110173910C>T | CA484789110 | COL4A1 | c.3495G>A (p.Lys1165=) c.3303G>A (p.Lys1101=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173911T>A | CA388664121 | COL4A1 | c.3494A>T (p.Lys1165Met) c.3302A>T (p.Lys1101Met) | |
| 13 | g.110173911T>C | CA388664122 | COL4A1 | c.3494A>G (p.Lys1165Arg) c.3302A>G (p.Lys1101Arg) | |
| 13 | g.110173911T>G | CA388664123 | COL4A1 | c.3494A>C (p.Lys1165Thr) c.3302A>C (p.Lys1101Thr) | COSMIC COSMIC |
| 13 | g.110173912T>A | CA388664124 | COL4A1 | c.3493A>T (p.Lys1165Ter) c.3301A>T (p.Lys1101Ter) | |
| 13 | g.110173912T>C | CA388664125 | COL4A1 | c.3493A>G (p.Lys1165Glu) c.3301A>G (p.Lys1101Glu) | ClinVar gnomAD v4 |
| 13 | g.110173912T>G | CA388664126 | COL4A1 | c.3493A>C (p.Lys1165Gln) c.3301A>C (p.Lys1101Gln) | |
| 13 | g.110173913C>A | CA388664127 | COL4A1 | c.3492G>T (p.Glu1164Asp) c.3300G>T (p.Glu1100Asp) | gnomAD v4 |
| 13 | g.110173913C= | CA2118737034 | COL4A1 | c.3492G= (p.Glu1164=) c.3300G= (p.Glu1100=) | |
| 13 | g.110173913C>G | CA388664128 | COL4A1 | c.3492G>C (p.Glu1164Asp) c.3300G>C (p.Glu1100Asp) | |
| 13 | g.110173913C>T | CA7047256 | COL4A1 | c.3492G>A (p.Glu1164=) c.3300G>A (p.Glu1100=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110173914T>A | CA388664129 | COL4A1 | c.3491A>T (p.Glu1164Val) c.3299A>T (p.Glu1100Val) | |
| 13 | g.110173914T>C | CA388664130 | COL4A1 | c.3491A>G (p.Glu1164Gly) c.3299A>G (p.Glu1100Gly) | |
| 13 | g.110173914T>G | CA388664131 | COL4A1 | c.3491A>C (p.Glu1164Ala) c.3299A>C (p.Glu1100Ala) | |
| 13 | g.110173915C>A | CA388664132 | COL4A1 | c.3490G>T (p.Glu1164Ter) c.3298G>T (p.Glu1100Ter) | |
| 13 | g.110173915C>G | CA388664133 | COL4A1 | c.3490G>C (p.Glu1164Gln) c.3298G>C (p.Glu1100Gln) | |
| 13 | g.110173915C>T | CA388664134 | COL4A1 | c.3490G>A (p.Glu1164Lys) c.3298G>A (p.Glu1100Lys) | |
| 13 | g.110173916T>A | CA484789111 | COL4A1 | c.3489A>T (p.Gly1163=) c.3297A>T (p.Gly1099=) | |
| 13 | g.110173916T>C | CA484789112 | COL4A1 | c.3489A>G (p.Gly1163=) c.3297A>G (p.Gly1099=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110173916T>G | CA484789113 | COL4A1 | c.3489A>C (p.Gly1163=) c.3297A>C (p.Gly1099=) | |
| 13 | g.110173916T= | CA2118737036 | COL4A1 | c.3489A= (p.Gly1163=) c.3297A= (p.Gly1099=) | |
| 13 | g.110173917C>A | CA388664135 | COL4A1 | c.3488G>T (p.Gly1163Val) c.3296G>T (p.Gly1099Val) | |
| 13 | g.110173917C>G | CA388664136 | COL4A1 | c.3488G>C (p.Gly1163Ala) c.3296G>C (p.Gly1099Ala) | |
| 13 | g.110173917C>T | CA388664137 | COL4A1 | c.3488G>A (p.Gly1163Glu) c.3296G>A (p.Gly1099Glu) | ClinVar dbSNP |
| 13 | g.110173918C>A | CA388664138 | COL4A1 | c.3487G>T (p.Gly1163Ter) c.3295G>T (p.Gly1099Ter) | |
| 13 | g.110173918C>G | CA388664139 | COL4A1 | c.3487G>C (p.Gly1163Arg) c.3295G>C (p.Gly1099Arg) | |
| 13 | g.110173918C>T | CA388664140 | COL4A1 | c.3487G>A (p.Gly1163Arg) c.3295G>A (p.Gly1099Arg) | |
| 13 | g.110173919T>A | CA484789114 | COL4A1 | c.3486A>T (p.Ala1162=) c.3294A>T (p.Ala1098=) | |
| 13 | g.110173919T>C | CA484789115 | COL4A1 | c.3486A>G (p.Ala1162=) c.3294A>G (p.Ala1098=) | |
| 13 | g.110173919T>G | CA484789116 | COL4A1 | c.3486A>C (p.Ala1162=) c.3294A>C (p.Ala1098=) | |
| 13 | g.110173920G>A | CA7047257 | COL4A1 | c.3485C>T (p.Ala1162Val) c.3293C>T (p.Ala1098Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110173920G>C | CA388664142 | COL4A1 | c.3485C>G (p.Ala1162Gly) c.3293C>G (p.Ala1098Gly) | |
| 13 | g.110173920G= | CA2118737038 | COL4A1 | c.3485C= (p.Ala1162=) c.3293C= (p.Ala1098=) | |
| 13 | g.110173920G>T | CA388664141 | COL4A1 | c.3485C>A (p.Ala1162Glu) c.3293C>A (p.Ala1098Glu) | gnomAD v4 |
| 13 | g.110173921C>A | CA388664143 | COL4A1 | c.3484G>T (p.Ala1162Ser) c.3292G>T (p.Ala1098Ser) | gnomAD v4 |
| 13 | g.110173921C= | CA2118737040 | COL4A1 | c.3484G= (p.Ala1162=) c.3292G= (p.Ala1098=) | |
| 13 | g.110173921C>G | CA388664144 | COL4A1 | c.3484G>C (p.Ala1162Pro) c.3292G>C (p.Ala1098Pro) | |
| 13 | g.110173921C>T | CA7047258 | COL4A1 | c.3484G>A (p.Ala1162Thr) c.3292G>A (p.Ala1098Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110173922T>A | CA484789117 | COL4A1 | c.3483A>T (p.Ser1161=) c.3291A>T (p.Ser1097=) |