| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110174445C>A | CA388664313 | COL4A1 | c.3406+1G>T (n.3406+1G>T) c.3214+1G>T (n.3214+1G>T) | |
| 13 | g.110174445C>G | CA388664314 | COL4A1 | c.3406+1G>C (n.3406+1G>C) c.3214+1G>C (n.3214+1G>C) | |
| 13 | g.110174445C>T | CA388664315 | COL4A1 | c.3406+1G>A (n.3406+1G>A) c.3214+1G>A (n.3214+1G>A) | |
| 13 | g.110174446C>A | CA388664318 | COL4A1 | c.3406G>T (p.Gly1136Cys) c.3214G>T (p.Gly1072Cys) | ClinVar |
| 13 | g.110174446C= | CA2118737519 | COL4A1 | c.3406G= (p.Gly1136=) c.3214G= (p.Gly1072=) | |
| 13 | g.110174446C>G | CA388664317 | COL4A1 | c.3406G>C (p.Gly1136Arg) c.3214G>C (p.Gly1072Arg) | |
| 13 | g.110174446C>T | CA388664316 | COL4A1 | c.3406G>A (p.Gly1136Ser) c.3214G>A (p.Gly1072Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.110174447T>A | CA484789266 | COL4A1 | c.3405A>T (p.Ala1135=) c.3213A>T (p.Ala1071=) | |
| 13 | g.110174447T>C | CA484789265 | COL4A1 | c.3405A>G (p.Ala1135=) c.3213A>G (p.Ala1071=) | |
| 13 | g.110174447T>G | CA484789264 | COL4A1 | c.3405A>C (p.Ala1135=) c.3213A>C (p.Ala1071=) | |
| 13 | g.110174448G>A | CA388664319 | COL4A1 | c.3404C>T (p.Ala1135Val) c.3212C>T (p.Ala1071Val) | COSMIC COSMIC |
| 13 | g.110174448G>C | CA388664321 | COL4A1 | c.3404C>G (p.Ala1135Gly) c.3212C>G (p.Ala1071Gly) | gnomAD v4 |
| 13 | g.110174448G>T | CA388664320 | COL4A1 | c.3404C>A (p.Ala1135Glu) c.3212C>A (p.Ala1071Glu) | |
| 13 | g.110174449C>A | CA388664322 | COL4A1 | c.3403G>T (p.Ala1135Ser) c.3211G>T (p.Ala1071Ser) | |
| 13 | g.110174449C>G | CA388664323 | COL4A1 | c.3403G>C (p.Ala1135Pro) c.3211G>C (p.Ala1071Pro) | |
| 13 | g.110174449C>T | CA388664324 | COL4A1 | c.3403G>A (p.Ala1135Thr) c.3211G>A (p.Ala1071Thr) | gnomAD v4 |
| 13 | g.110174450T>A | CA388664325 | COL4A1 | c.3402A>T (p.Glu1134Asp) c.3210A>T (p.Glu1070Asp) | |
| 13 | g.110174450T>C | CA484789268 | COL4A1 | c.3402A>G (p.Glu1134=) c.3210A>G (p.Glu1070=) | |
| 13 | g.110174450T>G | CA388664326 | COL4A1 | c.3402A>C (p.Glu1134Asp) c.3210A>C (p.Glu1070Asp) | |
| 13 | g.110174451T>A | CA388664327 | COL4A1 | c.3401A>T (p.Glu1134Val) c.3209A>T (p.Glu1070Val) | ClinVar dbSNP gnomAD v4 |
| 13 | g.110174451T>C | CA7047279 | COL4A1 | c.3401A>G (p.Glu1134Gly) c.3209A>G (p.Glu1070Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174451T>G | CA388664328 | COL4A1 | c.3401A>C (p.Glu1134Ala) c.3209A>C (p.Glu1070Ala) | |
| 13 | g.110174451T= | CA2118737523 | COL4A1 | c.3401A= (p.Glu1134=) c.3209A= (p.Glu1070=) | |
| 13 | g.110174452C>A | CA388664329 | COL4A1 | c.3400G>T (p.Glu1134Ter) c.3208G>T (p.Glu1070Ter) | |
| 13 | g.110174452C>G | CA388664330 | COL4A1 | c.3400G>C (p.Glu1134Gln) c.3208G>C (p.Glu1070Gln) | |
| 13 | g.110174452C>T | CA388664331 | COL4A1 | c.3400G>A (p.Glu1134Lys) c.3208G>A (p.Glu1070Lys) | |
| 13 | g.110174453T>A | CA484789270 | COL4A1 | c.3399A>T (p.Gly1133=) c.3207A>T (p.Gly1069=) | |
| 13 | g.110174453T>C | CA484789271 | COL4A1 | c.3399A>G (p.Gly1133=) c.3207A>G (p.Gly1069=) | |
| 13 | g.110174453T>G | CA484789272 | COL4A1 | c.3399A>C (p.Gly1133=) c.3207A>C (p.Gly1069=) | |
| 13 | g.110174454C>A | CA388664334 | COL4A1 | c.3398G>T (p.Gly1133Val) c.3206G>T (p.Gly1069Val) | |
| 13 | g.110174454C>G | CA388664332 | COL4A1 | c.3398G>C (p.Gly1133Ala) c.3206G>C (p.Gly1069Ala) | |
| 13 | g.110174454C>T | CA388664333 | COL4A1 | c.3398G>A (p.Gly1133Glu) c.3206G>A (p.Gly1069Glu) | COSMIC COSMIC |
| 13 | g.110174455C>A | CA388664335 | COL4A1 | c.3397G>T (p.Gly1133Ter) c.3205G>T (p.Gly1069Ter) | |
| 13 | g.110174455C>G | CA388664336 | COL4A1 | c.3397G>C (p.Gly1133Arg) c.3205G>C (p.Gly1069Arg) | |
| 13 | g.110174455C>T | CA388664337 | COL4A1 | c.3397G>A (p.Gly1133Arg) c.3205G>A (p.Gly1069Arg) | ClinVar |
| 13 | g.110174456T>A | CA388664338 | COL4A1 | c.3396A>T (p.Lys1132Asn) c.3204A>T (p.Lys1068Asn) | |
| 13 | g.110174456T>C | CA484789276 | COL4A1 | c.3396A>G (p.Lys1132=) c.3204A>G (p.Lys1068=) | gnomAD v4 |
| 13 | g.110174456T>G | CA388664339 | COL4A1 | c.3396A>C (p.Lys1132Asn) c.3204A>C (p.Lys1068Asn) | |
| 13 | g.110174457T>A | CA388664340 | COL4A1 | c.3395A>T (p.Lys1132Ile) c.3203A>T (p.Lys1068Ile) | |
| 13 | g.110174457T>C | CA388664341 | COL4A1 | c.3395A>G (p.Lys1132Arg) c.3203A>G (p.Lys1068Arg) | ClinVar gnomAD v4 |
| 13 | g.110174457T>G | CA388664342 | COL4A1 | c.3395A>C (p.Lys1132Thr) c.3203A>C (p.Lys1068Thr) | |
| 13 | g.110174458T>A | CA388664343 | COL4A1 | c.3394A>T (p.Lys1132Ter) c.3202A>T (p.Lys1068Ter) | gnomAD v4 |
| 13 | g.110174458T>C | CA388664344 | COL4A1 | c.3394A>G (p.Lys1132Glu) c.3202A>G (p.Lys1068Glu) | |
| 13 | g.110174458T>G | CA388664345 | COL4A1 | c.3394A>C (p.Lys1132Gln) c.3202A>C (p.Lys1068Gln) | |
| 13 | g.110174459G>A | CA484789279 | COL4A1 | c.3393C>T (p.Val1131=) c.3201C>T (p.Val1067=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174459G>C | CA484789280 | COL4A1 | c.3393C>G (p.Val1131=) c.3201C>G (p.Val1067=) | |
| 13 | g.110174459G= | CA2118737526 | COL4A1 | c.3393C= (p.Val1131=) c.3201C= (p.Val1067=) | |
| 13 | g.110174459G>T | CA484789281 | COL4A1 | c.3393C>A (p.Val1131=) c.3201C>A (p.Val1067=) | |
| 13 | g.110174460A= | CA2118737529 | COL4A1 | c.3392T= (p.Val1131=) c.3200T= (p.Val1067=) | |
| 13 | g.110174460A>C | CA388664347 | COL4A1 | c.3392T>G (p.Val1131Gly) c.3200T>G (p.Val1067Gly) | |
| 13 | g.110174460A>G | CA7047280 | COL4A1 | c.3392T>C (p.Val1131Ala) c.3200T>C (p.Val1067Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174460A>T | CA388664346 | COL4A1 | c.3392T>A (p.Val1131Asp) c.3200T>A (p.Val1067Asp) | |
| 13 | g.110174461C>A | CA388664348 | COL4A1 | c.3391G>T (p.Val1131Phe) c.3199G>T (p.Val1067Phe) | |
| 13 | g.110174461C= | CA2118737532 | COL4A1 | c.3391G= (p.Val1131=) c.3199G= (p.Val1067=) | |
| 13 | g.110174461C>G | CA388664349 | COL4A1 | c.3391G>C (p.Val1131Leu) c.3199G>C (p.Val1067Leu) | |
| 13 | g.110174461C>T | CA7047281 | COL4A1 | c.3391G>A (p.Val1131Ile) c.3199G>A (p.Val1067Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174462A= | CA2118737534 | COL4A1 | c.3390T= (p.Gly1130=) c.3198T= (p.Gly1066=) | |
| 13 | g.110174462A>C | CA484789284 | COL4A1 | c.3390T>G (p.Gly1130=) c.3198T>G (p.Gly1066=) | |
| 13 | g.110174462A>G | CA484789285 | COL4A1 | c.3390T>C (p.Gly1130=) c.3198T>C (p.Gly1066=) | gnomAD v4 |
| 13 | g.110174462A>T | CA484789286 | COL4A1 | c.3390T>A (p.Gly1130=) c.3198T>A (p.Gly1066=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174463C>A | CA388664350 | COL4A1 | c.3389G>T (p.Gly1130Val) c.3197G>T (p.Gly1066Val) | |
| 13 | g.110174463C= | CA2118737538 | COL4A1 | c.3389G= (p.Gly1130=) c.3197G= (p.Gly1066=) | |
| 13 | g.110174463C>G | CA388664351 | COL4A1 | c.3389G>C (p.Gly1130Ala) c.3197G>C (p.Gly1066Ala) | |
| 13 | g.110174463C>T | CA341450 | COL4A1 | c.3389G>A (p.Gly1130Asp) c.3197G>A (p.Gly1066Asp) | ClinVar dbSNP |
| 13 | g.110174464C>A | CA388664352 | COL4A1 | c.3388G>T (p.Gly1130Cys) c.3196G>T (p.Gly1066Cys) | |
| 13 | g.110174464C>G | CA388664353 | COL4A1 | c.3388G>C (p.Gly1130Arg) c.3196G>C (p.Gly1066Arg) | |
| 13 | g.110174464C>T | CA388664354 | COL4A1 | c.3388G>A (p.Gly1130Ser) c.3196G>A (p.Gly1066Ser) | |
| 13 | g.110174465A>C | CA484789290 | COL4A1 | c.3387T>G (p.Pro1129=) c.3195T>G (p.Pro1065=) | |
| 13 | g.110174465A>G | CA484789291 | COL4A1 | c.3387T>C (p.Pro1129=) c.3195T>C (p.Pro1065=) | |
| 13 | g.110174465A>T | CA484789292 | COL4A1 | c.3387T>A (p.Pro1129=) c.3195T>A (p.Pro1065=) | |
| 13 | g.110174466G>A | CA388664355 | COL4A1 | c.3386C>T (p.Pro1129Leu) c.3194C>T (p.Pro1065Leu) | gnomAD v4 |
| 13 | g.110174466G>C | CA388664356 | COL4A1 | c.3386C>G (p.Pro1129Arg) c.3194C>G (p.Pro1065Arg) | |
| 13 | g.110174466G>T | CA388664357 | COL4A1 | c.3386C>A (p.Pro1129His) c.3194C>A (p.Pro1065His) | |
| 13 | g.110174467G>A | CA388664359 | COL4A1 | c.3385C>T (p.Pro1129Ser) c.3193C>T (p.Pro1065Ser) | gnomAD v4 |
| 13 | g.110174467G>C | CA388664360 | COL4A1 | c.3385C>G (p.Pro1129Ala) c.3193C>G (p.Pro1065Ala) | |
| 13 | g.110174467G>T | CA388664358 | COL4A1 | c.3385C>A (p.Pro1129Thr) c.3193C>A (p.Pro1065Thr) | |
| 13 | g.110174468G>A | CA484789294 | COL4A1 | c.3384C>T (p.Ile1128=) c.3192C>T (p.Ile1064=) | |
| 13 | g.110174468G>C | CA388664361 | COL4A1 | c.3384C>G (p.Ile1128Met) c.3192C>G (p.Ile1064Met) | |
| 13 | g.110174468G= | CA2118737546 | COL4A1 | c.3384C= (p.Ile1128=) c.3192C= (p.Ile1064=) | |
| 13 | g.110174468G>T | CA484789295 | COL4A1 | c.3384C>A (p.Ile1128=) c.3192C>A (p.Ile1064=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174469A= | CA2118737548 | COL4A1 | c.3383T= (p.Ile1128=) c.3191T= (p.Ile1064=) | |
| 13 | g.110174469A>C | CA388664362 | COL4A1 | c.3383T>G (p.Ile1128Ser) c.3191T>G (p.Ile1064Ser) | |
| 13 | g.110174469A>G | CA388664363 | COL4A1 | c.3383T>C (p.Ile1128Thr) c.3191T>C (p.Ile1064Thr) | |
| 13 | g.110174469A>T | CA7047282 | COL4A1 | c.3383T>A (p.Ile1128Asn) c.3191T>A (p.Ile1064Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174470T>A | CA388664366 | COL4A1 | c.3382A>T (p.Ile1128Phe) c.3190A>T (p.Ile1064Phe) | |
| 13 | g.110174470T>C | CA388664365 | COL4A1 | c.3382A>G (p.Ile1128Val) c.3190A>G (p.Ile1064Val) | |
| 13 | g.110174470T>G | CA388664364 | COL4A1 | c.3382A>C (p.Ile1128Leu) c.3190A>C (p.Ile1064Leu) | |
| 13 | g.110174471G>A | CA7047283 | COL4A1 | c.3381C>T (p.Gly1127=) c.3189C>T (p.Gly1063=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174471G>C | CA484789299 | COL4A1 | c.3381C>G (p.Gly1127=) c.3189C>G (p.Gly1063=) | |
| 13 | g.110174471G= | CA2118737552 | COL4A1 | c.3381C= (p.Gly1127=) c.3189C= (p.Gly1063=) | |
| 13 | g.110174471G>T | CA484789298 | COL4A1 | c.3381C>A (p.Gly1127=) c.3189C>A (p.Gly1063=) | |
| 13 | g.110174472C>A | CA388664367 | COL4A1 | c.3380G>T (p.Gly1127Val) c.3188G>T (p.Gly1063Val) | |
| 13 | g.110174472C>G | CA388664368 | COL4A1 | c.3380G>C (p.Gly1127Ala) c.3188G>C (p.Gly1063Ala) | |
| 13 | g.110174472C>T | CA388664369 | COL4A1 | c.3380G>A (p.Gly1127Asp) c.3188G>A (p.Gly1063Asp) | |
| 13 | g.110174473C>A | CA388664370 | COL4A1 | c.3379G>T (p.Gly1127Cys) c.3187G>T (p.Gly1063Cys) | |
| 13 | g.110174473C>G | CA388664371 | COL4A1 | c.3379G>C (p.Gly1127Arg) c.3187G>C (p.Gly1063Arg) | |
| 13 | g.110174473C>T | CA388664372 | COL4A1 | c.3379G>A (p.Gly1127Ser) c.3187G>A (p.Gly1063Ser) | ClinVar gnomAD v4 |
| 13 | g.110174474A= | CA2118737559 | COL4A1 | c.3378T= (p.Asp1126=) c.3186T= (p.Asp1062=) | |
| 13 | g.110174474A>C | CA388664374 | COL4A1 | c.3378T>G (p.Asp1126Glu) c.3186T>G (p.Asp1062Glu) | |
| 13 | g.110174474A>G | CA256253696 | COL4A1 | c.3378T>C (p.Asp1126=) c.3186T>C (p.Asp1062=) | dbSNP gnomAD v4 |
| 13 | g.110174474A>T | CA388664373 | COL4A1 | c.3378T>A (p.Asp1126Glu) c.3186T>A (p.Asp1062Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174475T>A | CA388664375 | COL4A1 | c.3377A>T (p.Asp1126Val) c.3185A>T (p.Asp1062Val) | |
| 13 | g.110174475T>C | CA388664377 | COL4A1 | c.3377A>G (p.Asp1126Gly) c.3185A>G (p.Asp1062Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174475T>G | CA388664376 | COL4A1 | c.3377A>C (p.Asp1126Ala) c.3185A>C (p.Asp1062Ala) | |
| 13 | g.110174475T= | CA2118737563 | COL4A1 | c.3377A= (p.Asp1126=) c.3185A= (p.Asp1062=) | |
| 13 | g.110174476C>A | CA388664378 | COL4A1 | c.3376G>T (p.Asp1126Tyr) c.3184G>T (p.Asp1062Tyr) | ClinVar dbSNP |
| 13 | g.110174476C= | CA2118737565 | COL4A1 | c.3376G= (p.Asp1126=) c.3184G= (p.Asp1062=) | |
| 13 | g.110174476C>G | CA388664379 | COL4A1 | c.3376G>C (p.Asp1126His) c.3184G>C (p.Asp1062His) | |
| 13 | g.110174476C>T | CA388664380 | COL4A1 | c.3376G>A (p.Asp1126Asn) c.3184G>A (p.Asp1062Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110174477C>A | CA388664381 | COL4A1 | c.3375G>T (p.Leu1125Phe) c.3183G>T (p.Leu1061Phe) | gnomAD v4 |
| 13 | g.110174477C= | CA2118737569 | COL4A1 | c.3375G= (p.Leu1125=) c.3183G= (p.Leu1061=) | |
| 13 | g.110174477C>G | CA388664382 | COL4A1 | c.3375G>C (p.Leu1125Phe) c.3183G>C (p.Leu1061Phe) | |
| 13 | g.110174477C>T | CA484789303 | COL4A1 | c.3375G>A (p.Leu1125=) c.3183G>A (p.Leu1061=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.110174478A>C | CA388664383 | COL4A1 | c.3374T>G (p.Leu1125Trp) c.3182T>G (p.Leu1061Trp) | |
| 13 | g.110174478A>G | CA388664384 | COL4A1 | c.3374T>C (p.Leu1125Ser) c.3182T>C (p.Leu1061Ser) | |
| 13 | g.110174478A>T | CA388664385 | COL4A1 | c.3374T>A (p.Leu1125Ter) c.3182T>A (p.Leu1061Ter) | |
| 13 | g.110174479A>C | CA388664386 | COL4A1 | c.3373T>G (p.Leu1125Val) c.3181T>G (p.Leu1061Val) | |
| 13 | g.110174479A>G | CA484789304 | COL4A1 | c.3373T>C (p.Leu1125=) c.3181T>C (p.Leu1061=) | gnomAD v4 |
| 13 | g.110174479A>T | CA388664387 | COL4A1 | c.3373T>A (p.Leu1125Met) c.3181T>A (p.Leu1061Met) | |
| 13 | g.110174480T>A | CA484789305 | COL4A1 | c.3372A>T (p.Gly1124=) c.3180A>T (p.Gly1060=) | |
| 13 | g.110174480T>C | CA484789306 | COL4A1 | c.3372A>G (p.Gly1124=) c.3180A>G (p.Gly1060=) | gnomAD v4 |
| 13 | g.110174480T>G | CA484789307 | COL4A1 | c.3372A>C (p.Gly1124=) c.3180A>C (p.Gly1060=) | |
| 13 | g.110174481C>A | CA388664388 | COL4A1 | c.3371G>T (p.Gly1124Val) c.3179G>T (p.Gly1060Val) | |
| 13 | g.110174481C= | CA2118737576 | COL4A1 | c.3371G= (p.Gly1124=) c.3179G= (p.Gly1060=) | |
| 13 | g.110174481C>G | CA388664389 | COL4A1 | c.3371G>C (p.Gly1124Ala) c.3179G>C (p.Gly1060Ala) | |
| 13 | g.110174481C>T | CA388664390 | COL4A1 | c.3371G>A (p.Gly1124Glu) c.3179G>A (p.Gly1060Glu) | ClinVar dbSNP |
| 13 | g.110174482C>A | CA388664393 | COL4A1 | c.3370G>T (p.Gly1124Ter) c.3178G>T (p.Gly1060Ter) | |
| 13 | g.110174482C>G | CA388664391 | COL4A1 | c.3370G>C (p.Gly1124Arg) c.3178G>C (p.Gly1060Arg) | |
| 13 | g.110174482C>T | CA388664392 | COL4A1 | c.3370G>A (p.Gly1124Arg) c.3178G>A (p.Gly1060Arg) | |
| 13 | g.110174483T>A | CA484789308 | COL4A1 | c.3369A>T (p.Pro1123=) c.3177A>T (p.Pro1059=) | |
| 13 | g.110174483T>C | CA484789310 | COL4A1 | c.3369A>G (p.Pro1123=) c.3177A>G (p.Pro1059=) | |
| 13 | g.110174483T>G | CA484789309 | COL4A1 | c.3369A>C (p.Pro1123=) c.3177A>C (p.Pro1059=) | |
| 13 | g.110174484G>A | CA388664394 | COL4A1 | c.3368C>T (p.Pro1123Leu) c.3176C>T (p.Pro1059Leu) | dbSNP gnomAD v4 |
| 13 | g.110174484G>C | CA388664395 | COL4A1 | c.3368C>G (p.Pro1123Arg) c.3176C>G (p.Pro1059Arg) | gnomAD v4 |
| 13 | g.110174484G= | CA2118737581 | COL4A1 | c.3368C= (p.Pro1123=) c.3176C= (p.Pro1059=) | |
| 13 | g.110174484G>T | CA388664396 | COL4A1 | c.3368C>A (p.Pro1123Gln) c.3176C>A (p.Pro1059Gln) | |
| 13 | g.110174485G>A | CA388664397 | COL4A1 | c.3367C>T (p.Pro1123Ser) c.3175C>T (p.Pro1059Ser) | COSMIC COSMIC |
| 13 | g.110174485G>C | CA388664398 | COL4A1 | c.3367C>G (p.Pro1123Ala) c.3175C>G (p.Pro1059Ala) | |
| 13 | g.110174485G>T | CA388664399 | COL4A1 | c.3367C>A (p.Pro1123Thr) c.3175C>A (p.Pro1059Thr) | |
| 13 | g.110174486G>A | CA7047284 | COL4A1 | c.3366C>T (p.Leu1122=) c.3174C>T (p.Leu1058=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174486G>C | CA484789311 | COL4A1 | c.3366C>G (p.Leu1122=) c.3174C>G (p.Leu1058=) | |
| 13 | g.110174486G= | CA2118737586 | COL4A1 | c.3366C= (p.Leu1122=) c.3174C= (p.Leu1058=) | |
| 13 | g.110174486G>T | CA484789312 | COL4A1 | c.3366C>A (p.Leu1122=) c.3174C>A (p.Leu1058=) | |
| 13 | g.110174487A= | CA2118737589 | COL4A1 | c.3365T= (p.Leu1122=) c.3173T= (p.Leu1058=) | |
| 13 | g.110174487A>C | CA388664400 | COL4A1 | c.3365T>G (p.Leu1122Arg) c.3173T>G (p.Leu1058Arg) | |
| 13 | g.110174487A>G | CA388664401 | COL4A1 | c.3365T>C (p.Leu1122Pro) c.3173T>C (p.Leu1058Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110174487A>T | CA388664402 | COL4A1 | c.3365T>A (p.Leu1122His) c.3173T>A (p.Leu1058His) | |
| 13 | g.110174488G>A | CA7047285 | COL4A1 | c.3364C>T (p.Leu1122Phe) c.3172C>T (p.Leu1058Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.110174488G>C | CA388664403 | COL4A1 | c.3364C>G (p.Leu1122Val) c.3172C>G (p.Leu1058Val) | |
| 13 | g.110174488G= | CA2118737592 | COL4A1 | c.3364C= (p.Leu1122=) c.3172C= (p.Leu1058=) | |
| 13 | g.110174488G>T | CA388664404 | COL4A1 | c.3364C>A (p.Leu1122Ile) c.3172C>A (p.Leu1058Ile) | |
| 13 | g.110174489G>A | CA7047286 | COL4A1 | c.3363C>T (p.Gly1121=) c.3171C>T (p.Gly1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174489G>C | CA484789313 | COL4A1 | c.3363C>G (p.Gly1121=) c.3171C>G (p.Gly1057=) | |
| 13 | g.110174489G= | CA2118737596 | COL4A1 | c.3363C= (p.Gly1121=) c.3171C= (p.Gly1057=) | |
| 13 | g.110174489G>T | CA484789314 | COL4A1 | c.3363C>A (p.Gly1121=) c.3171C>A (p.Gly1057=) | dbSNP |
| 13 | g.110174490C>A | CA388664407 | COL4A1 | c.3362G>T (p.Gly1121Val) c.3170G>T (p.Gly1057Val) | |
| 13 | g.110174490C>G | CA388664405 | COL4A1 | c.3362G>C (p.Gly1121Ala) c.3170G>C (p.Gly1057Ala) | COSMIC COSMIC |
| 13 | g.110174490C>T | CA388664406 | COL4A1 | c.3362G>A (p.Gly1121Asp) c.3170G>A (p.Gly1057Asp) | COSMIC COSMIC |
| 13 | g.110174491C>A | CA388664408 | COL4A1 | c.3361G>T (p.Gly1121Cys) c.3169G>T (p.Gly1057Cys) | |
| 13 | g.110174491C>G | CA388664409 | COL4A1 | c.3361G>C (p.Gly1121Arg) c.3169G>C (p.Gly1057Arg) | |
| 13 | g.110174491C>T | CA388664410 | COL4A1 | c.3361G>A (p.Gly1121Ser) c.3169G>A (p.Gly1057Ser) | |
| 13 | g.110174492T>A | CA388664411 | COL4A1 | c.3360A>T (p.Lys1120Asn) c.3168A>T (p.Lys1056Asn) | |
| 13 | g.110174492T>C | CA484789315 | COL4A1 | c.3360A>G (p.Lys1120=) c.3168A>G (p.Lys1056=) | |
| 13 | g.110174492T>G | CA388664412 | COL4A1 | c.3360A>C (p.Lys1120Asn) c.3168A>C (p.Lys1056Asn) | |
| 13 | g.110174493T>A | CA388664414 | COL4A1 | c.3359A>T (p.Lys1120Ile) c.3167A>T (p.Lys1056Ile) | |
| 13 | g.110174493T>C | CA7047287 | COL4A1 | c.3359A>G (p.Lys1120Arg) c.3167A>G (p.Lys1056Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174493T>G | CA388664413 | COL4A1 | c.3359A>C (p.Lys1120Thr) c.3167A>C (p.Lys1056Thr) | |
| 13 | g.110174493T= | CA2118737600 | COL4A1 | c.3359A= (p.Lys1120=) c.3167A= (p.Lys1056=) | |
| 13 | g.110174494T>A | CA388664415 | COL4A1 | c.3358A>T (p.Lys1120Ter) c.3166A>T (p.Lys1056Ter) | |
| 13 | g.110174494T>C | CA388664416 | COL4A1 | c.3358A>G (p.Lys1120Glu) c.3166A>G (p.Lys1056Glu) | ClinVar dbSNP |
| 13 | g.110174494T>G | CA388664417 | COL4A1 | c.3358A>C (p.Lys1120Gln) c.3166A>C (p.Lys1056Gln) | |
| 13 | g.110174494T= | CA2118737608 | COL4A1 | c.3358A= (p.Lys1120=) c.3166A= (p.Lys1056=) | |
| 13 | g.110174495G>A | CA484789316 | COL4A1 | c.3357C>T (p.Asp1119=) c.3165C>T (p.Asp1055=) | |
| 13 | g.110174495G>C | CA388664418 | COL4A1 | c.3357C>G (p.Asp1119Glu) c.3165C>G (p.Asp1055Glu) | |
| 13 | g.110174495G= | CA2118737614 | COL4A1 | c.3357C= (p.Asp1119=) c.3165C= (p.Asp1055=) | |
| 13 | g.110174495G>T | CA256253714 | COL4A1 | c.3357C>A (p.Asp1119Glu) c.3165C>A (p.Asp1055Glu) | dbSNP |
| 13 | g.110174496T>A | CA388664419 | COL4A1 | c.3356A>T (p.Asp1119Val) c.3164A>T (p.Asp1055Val) | |
| 13 | g.110174496T>C | CA388664421 | COL4A1 | c.3356A>G (p.Asp1119Gly) c.3164A>G (p.Asp1055Gly) | |
| 13 | g.110174496T>G | CA388664420 | COL4A1 | c.3356A>C (p.Asp1119Ala) c.3164A>C (p.Asp1055Ala) | |
| 13 | g.110174497C>A | CA388664422 | COL4A1 | c.3355G>T (p.Asp1119Tyr) c.3163G>T (p.Asp1055Tyr) | |
| 13 | g.110174497C>G | CA388664423 | COL4A1 | c.3355G>C (p.Asp1119His) c.3163G>C (p.Asp1055His) | |
| 13 | g.110174497C>T | CA388664424 | COL4A1 | c.3355G>A (p.Asp1119Asn) c.3163G>A (p.Asp1055Asn) | |
| 13 | g.110174498A>C | CA484789317 | COL4A1 | c.3354T>G (p.Gly1118=) c.3162T>G (p.Gly1054=) | |
| 13 | g.110174498A>G | CA484789318 | COL4A1 | c.3354T>C (p.Gly1118=) c.3162T>C (p.Gly1054=) | |
| 13 | g.110174498A>T | CA484789319 | COL4A1 | c.3354T>A (p.Gly1118=) c.3162T>A (p.Gly1054=) | |
| 13 | g.110174499C>A | CA388664425 | COL4A1 | c.3353G>T (p.Gly1118Val) c.3161G>T (p.Gly1054Val) | |
| 13 | g.110174499C= | CA2118737618 | COL4A1 | c.3353G= (p.Gly1118=) c.3161G= (p.Gly1054=) | |
| 13 | g.110174499C>G | CA388664426 | COL4A1 | c.3353G>C (p.Gly1118Ala) c.3161G>C (p.Gly1054Ala) | |
| 13 | g.110174499C>T | CA388664427 | COL4A1 | c.3353G>A (p.Gly1118Asp) c.3161G>A (p.Gly1054Asp) | ClinVar dbSNP |
| 13 | g.110174500C>A | CA388664428 | COL4A1 | c.3352G>T (p.Gly1118Cys) c.3160G>T (p.Gly1054Cys) | |
| 13 | g.110174500C>G | CA388664429 | COL4A1 | c.3352G>C (p.Gly1118Arg) c.3160G>C (p.Gly1054Arg) | |
| 13 | g.110174500C>T | CA388664430 | COL4A1 | c.3352G>A (p.Gly1118Ser) c.3160G>A (p.Gly1054Ser) | |
| 13 | g.110174501T>A | CA388664431 | COL4A1 | c.3351A>T (p.Lys1117Asn) c.3159A>T (p.Lys1053Asn) | |
| 13 | g.110174501T>C | CA484789320 | COL4A1 | c.3351A>G (p.Lys1117=) c.3159A>G (p.Lys1053=) | |
| 13 | g.110174501T>G | CA388664432 | COL4A1 | c.3351A>C (p.Lys1117Asn) c.3159A>C (p.Lys1053Asn) | |
| 13 | g.110174505del | CA645573517 | COL4A1 | c.3351del (p.Gly1118ValfsTer?) c.3159del (p.Gly1054ValfsTer?) | gnomAD v4 COSMIC COSMIC |
| 13 | g.110174502T>A | CA388664433 | COL4A1 | c.3350A>T (p.Lys1117Ile) c.3158A>T (p.Lys1053Ile) | |
| 13 | g.110174502T>C | CA388664435 | COL4A1 | c.3350A>G (p.Lys1117Arg) c.3158A>G (p.Lys1053Arg) | |
| 13 | g.110174502T>G | CA388664434 | COL4A1 | c.3350A>C (p.Lys1117Thr) c.3158A>C (p.Lys1053Thr) | |
| 13 | g.110174503T>A | CA388664436 | COL4A1 | c.3349A>T (p.Lys1117Ter) c.3157A>T (p.Lys1053Ter) | |
| 13 | g.110174503T>C | CA388664438 | COL4A1 | c.3349A>G (p.Lys1117Glu) c.3157A>G (p.Lys1053Glu) | |
| 13 | g.110174503T>G | CA388664437 | COL4A1 | c.3349A>C (p.Lys1117Gln) c.3157A>C (p.Lys1053Gln) | |
| 13 | g.110174504T>A | CA388664439 | COL4A1 | c.3348A>T (p.Glu1116Asp) c.3156A>T (p.Glu1052Asp) | |
| 13 | g.110174504T>C | CA484789321 | COL4A1 | c.3348A>G (p.Glu1116=) c.3156A>G (p.Glu1052=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110174504T>G | CA388664440 | COL4A1 | c.3348A>C (p.Glu1116Asp) c.3156A>C (p.Glu1052Asp) | |
| 13 | g.110174504T= | CA2118737625 | COL4A1 | c.3348A= (p.Glu1116=) c.3156A= (p.Glu1052=) | |
| 13 | g.110174505T>A | CA388664441 | COL4A1 | c.3347A>T (p.Glu1116Val) c.3155A>T (p.Glu1052Val) | ClinVar |
| 13 | g.110174505T>C | CA388664442 | COL4A1 | c.3347A>G (p.Glu1116Gly) c.3155A>G (p.Glu1052Gly) | |
| 13 | g.110174505T>G | CA388664443 | COL4A1 | c.3347A>C (p.Glu1116Ala) c.3155A>C (p.Glu1052Ala) | |
| 13 | g.110174506C>A | CA388664444 | COL4A1 | c.3346G>T (p.Glu1116Ter) c.3154G>T (p.Glu1052Ter) | |
| 13 | g.110174506C>G | CA388664445 | COL4A1 | c.3346G>C (p.Glu1116Gln) c.3154G>C (p.Glu1052Gln) | |
| 13 | g.110174506C>T | CA388664446 | COL4A1 | c.3346G>A (p.Glu1116Lys) c.3154G>A (p.Glu1052Lys) | COSMIC COSMIC |
| 13 | g.110174507T>A | CA484789322 | COL4A1 | c.3345A>T (p.Gly1115=) c.3153A>T (p.Gly1051=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174507T>C | CA484789323 | COL4A1 | c.3345A>G (p.Gly1115=) c.3153A>G (p.Gly1051=) | gnomAD v4 |
| 13 | g.110174507T>G | CA484789324 | COL4A1 | c.3345A>C (p.Gly1115=) c.3153A>C (p.Gly1051=) | |
| 13 | g.110174507T= | CA2118737629 | COL4A1 | c.3345A= (p.Gly1115=) c.3153A= (p.Gly1051=) | |
| 13 | g.110174508C>A | CA388664447 | COL4A1 | c.3344G>T (p.Gly1115Val) c.3152G>T (p.Gly1051Val) | |
| 13 | g.110174508C>G | CA388664448 | COL4A1 | c.3344G>C (p.Gly1115Ala) c.3152G>C (p.Gly1051Ala) | COSMIC COSMIC |
| 13 | g.110174508C>T | CA388664449 | COL4A1 | c.3344G>A (p.Gly1115Glu) c.3152G>A (p.Gly1051Glu) | |
| 13 | g.110174509C>A | CA388664452 | COL4A1 | c.3343G>T (p.Gly1115Ter) c.3151G>T (p.Gly1051Ter) | |
| 13 | g.110174509C>G | CA388664451 | COL4A1 | c.3343G>C (p.Gly1115Arg) c.3151G>C (p.Gly1051Arg) | |
| 13 | g.110174509C>T | CA388664450 | COL4A1 | c.3343G>A (p.Gly1115Arg) c.3151G>A (p.Gly1051Arg) | |
| 13 | g.110174510A>C | CA484789325 | COL4A1 | c.3342T>G (p.Pro1114=) c.3150T>G (p.Pro1050=) | |
| 13 | g.110174510A>G | CA484789326 | COL4A1 | c.3342T>C (p.Pro1114=) c.3150T>C (p.Pro1050=) | |
| 13 | g.110174510A>T | CA484789327 | COL4A1 | c.3342T>A (p.Pro1114=) c.3150T>A (p.Pro1050=) | |
| 13 | g.110174511G>A | CA256253718 | COL4A1 | c.3341C>T (p.Pro1114Leu) c.3149C>T (p.Pro1050Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174511G>C | CA388664453 | COL4A1 | c.3341C>G (p.Pro1114Arg) c.3149C>G (p.Pro1050Arg) | dbSNP |
| 13 | g.110174511G= | CA2118737639 | COL4A1 | c.3341C= (p.Pro1114=) c.3149C= (p.Pro1050=) | |
| 13 | g.110174511G>T | CA388664454 | COL4A1 | c.3341C>A (p.Pro1114His) c.3149C>A (p.Pro1050His) | gnomAD v4 |
| 13 | g.110174512G>A | CA388664455 | COL4A1 | c.3340C>T (p.Pro1114Ser) c.3148C>T (p.Pro1050Ser) | |
| 13 | g.110174512G>C | CA388664456 | COL4A1 | c.3340C>G (p.Pro1114Ala) c.3148C>G (p.Pro1050Ala) | |
| 13 | g.110174512G>T | CA388664457 | COL4A1 | c.3340C>A (p.Pro1114Thr) c.3148C>A (p.Pro1050Thr) | |
| 13 | g.110174513T>A | CA484789330 | COL4A1 | c.3339A>T (p.Leu1113=) c.3147A>T (p.Leu1049=) | |
| 13 | g.110174513T>C | CA484789329 | COL4A1 | c.3339A>G (p.Leu1113=) c.3147A>G (p.Leu1049=) | dbSNP |
| 13 | g.110174513T>G | CA484789328 | COL4A1 | c.3339A>C (p.Leu1113=) c.3147A>C (p.Leu1049=) | |
| 13 | g.110174514A>C | CA388664458 | COL4A1 | c.3338T>G (p.Leu1113Arg) c.3146T>G (p.Leu1049Arg) | |
| 13 | g.110174514A>G | CA388664459 | COL4A1 | c.3338T>C (p.Leu1113Pro) c.3146T>C (p.Leu1049Pro) | |
| 13 | g.110174514A>T | CA388664460 | COL4A1 | c.3338T>A (p.Leu1113Gln) c.3146T>A (p.Leu1049Gln) | |
| 13 | g.110174515G>A | CA484789331 | COL4A1 | c.3337C>T (p.Leu1113=) c.3145C>T (p.Leu1049=) | COSMIC COSMIC |
| 13 | g.110174515G>C | CA388664461 | COL4A1 | c.3337C>G (p.Leu1113Val) c.3145C>G (p.Leu1049Val) | |
| 13 | g.110174515G>T | CA388664462 | COL4A1 | c.3337C>A (p.Leu1113Ile) c.3145C>A (p.Leu1049Ile) | gnomAD v4 |
| 13 | g.110174516C>A | CA484789332 | COL4A1 | c.3336G>T (p.Gly1112=) c.3144G>T (p.Gly1048=) | |
| 13 | g.110174516C= | CA2118737643 | COL4A1 | c.3336G= (p.Gly1112=) c.3144G= (p.Gly1048=) | |
| 13 | g.110174516C>G | CA7047288 | COL4A1 | c.3336G>C (p.Gly1112=) c.3144G>C (p.Gly1048=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174516C>T | CA484789333 | COL4A1 | c.3336G>A (p.Gly1112=) c.3144G>A (p.Gly1048=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110174517C>A | CA388664465 | COL4A1 | c.3335G>T (p.Gly1112Val) c.3143G>T (p.Gly1048Val) | |
| 13 | g.110174517C>G | CA388664464 | COL4A1 | c.3335G>C (p.Gly1112Ala) c.3143G>C (p.Gly1048Ala) | |
| 13 | g.110174517C>T | CA388664463 | COL4A1 | c.3335G>A (p.Gly1112Glu) c.3143G>A (p.Gly1048Glu) | |
| 13 | g.110174518C>A | CA388664466 | COL4A1 | c.3334G>T (p.Gly1112Trp) c.3142G>T (p.Gly1048Trp) | |
| 13 | g.110174518C>G | CA388664467 | COL4A1 | c.3334G>C (p.Gly1112Arg) c.3142G>C (p.Gly1048Arg) | |
| 13 | g.110174518C>T | CA388664468 | COL4A1 | c.3334G>A (p.Gly1112Arg) c.3142G>A (p.Gly1048Arg) | |
| 13 | g.110174519A= | CA2118737648 | COL4A1 | c.3333T= (p.Pro1111=) c.3141T= (p.Pro1047=) | |
| 13 | g.110174519A>C | CA484789334 | COL4A1 | c.3333T>G (p.Pro1111=) c.3141T>G (p.Pro1047=) | |
| 13 | g.110174519A>G | CA484789336 | COL4A1 | c.3333T>C (p.Pro1111=) c.3141T>C (p.Pro1047=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174519A>T | CA484789335 | COL4A1 | c.3333T>A (p.Pro1111=) c.3141T>A (p.Pro1047=) | |
| 13 | g.110174520G>A | CA388664469 | COL4A1 | c.3332C>T (p.Pro1111Leu) c.3140C>T (p.Pro1047Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174520G>C | CA388664470 | COL4A1 | c.3332C>G (p.Pro1111Arg) c.3140C>G (p.Pro1047Arg) | |
| 13 | g.110174520G= | CA2118737651 | COL4A1 | c.3332C= (p.Pro1111=) c.3140C= (p.Pro1047=) | |
| 13 | g.110174520G>T | CA388664471 | COL4A1 | c.3332C>A (p.Pro1111His) c.3140C>A (p.Pro1047His) | |
| 13 | g.110174521G>A | CA7047289 | COL4A1 | c.3331C>T (p.Pro1111Ser) c.3139C>T (p.Pro1047Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174521G>C | CA388664472 | COL4A1 | c.3331C>G (p.Pro1111Ala) c.3139C>G (p.Pro1047Ala) | |
| 13 | g.110174521G= | CA2118737654 | COL4A1 | c.3331C= (p.Pro1111=) c.3139C= (p.Pro1047=) | |
| 13 | g.110174521G>T | CA388664473 | COL4A1 | c.3331C>A (p.Pro1111Thr) c.3139C>A (p.Pro1047Thr) | |
| 13 | g.110174522A= | CA2118737657 | COL4A1 | c.3330T= (p.Ser1110=) c.3138T= (p.Ser1046=) | |
| 13 | g.110174522A>C | CA388664474 | COL4A1 | c.3330T>G (p.Ser1110Arg) c.3138T>G (p.Ser1046Arg) | |
| 13 | g.110174522A>G | CA484789337 | COL4A1 | c.3330T>C (p.Ser1110=) c.3138T>C (p.Ser1046=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174522A>T | CA388664475 | COL4A1 | c.3330T>A (p.Ser1110Arg) c.3138T>A (p.Ser1046Arg) | |
| 13 | g.110174523C>A | CA7047290 | COL4A1 | c.3329G>T (p.Ser1110Ile) c.3137G>T (p.Ser1046Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174523C= | CA2118737660 | COL4A1 | c.3329G= (p.Ser1110=) c.3137G= (p.Ser1046=) | |
| 13 | g.110174523C>G | CA388664476 | COL4A1 | c.3329G>C (p.Ser1110Thr) c.3137G>C (p.Ser1046Thr) | |
| 13 | g.110174523C>T | CA388664477 | COL4A1 | c.3329G>A (p.Ser1110Asn) c.3137G>A (p.Ser1046Asn) | |
| 13 | g.110174524T>A | CA388664478 | COL4A1 | c.3328A>T (p.Ser1110Cys) c.3136A>T (p.Ser1046Cys) | |
| 13 | g.110174524T>C | CA388664480 | COL4A1 | c.3328A>G (p.Ser1110Gly) c.3136A>G (p.Ser1046Gly) | |
| 13 | g.110174524T>G | CA388664479 | COL4A1 | c.3328A>C (p.Ser1110Arg) c.3136A>C (p.Ser1046Arg) | |
| 13 | g.110174525T>A | CA484789338 | COL4A1 | c.3327A>T (p.Gly1109=) c.3135A>T (p.Gly1045=) | |
| 13 | g.110174525T>C | CA484789339 | COL4A1 | c.3327A>G (p.Gly1109=) c.3135A>G (p.Gly1045=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174525T>G | CA484789340 | COL4A1 | c.3327A>C (p.Gly1109=) c.3135A>C (p.Gly1045=) | |
| 13 | g.110174525T= | CA2118737665 | COL4A1 | c.3327A= (p.Gly1109=) c.3135A= (p.Gly1045=) | |
| 13 | g.110174526C>A | CA388664481 | COL4A1 | c.3326G>T (p.Gly1109Val) c.3134G>T (p.Gly1045Val) | |
| 13 | g.110174526C>G | CA388664482 | COL4A1 | c.3326G>C (p.Gly1109Ala) c.3134G>C (p.Gly1045Ala) | |
| 13 | g.110174526C>T | CA388664483 | COL4A1 | c.3326G>A (p.Gly1109Glu) c.3134G>A (p.Gly1045Glu) | |
| 13 | g.110174527C>A | CA388664484 | COL4A1 | c.3326-1G>T (n.3326-1G>T) c.3134-1G>T (n.3134-1G>T) | |
| 13 | g.110174527C>G | CA388664485 | COL4A1 | c.3326-1G>C (n.3326-1G>C) c.3134-1G>C (n.3134-1G>C) | |
| 13 | g.110174527C>T | CA388664486 | COL4A1 | c.3326-1G>A (n.3326-1G>A) c.3134-1G>A (n.3134-1G>A) | |
| 13 | g.110174528T>A | CA388664487 | COL4A1 | c.3326-2A>T (n.3326-2A>T) c.3134-2A>T (n.3134-2A>T) | |
| 13 | g.110174528T>C | CA388664488 | COL4A1 | c.3326-2A>G (n.3326-2A>G) c.3134-2A>G (n.3134-2A>G) | |
| 13 | g.110174528T>G | CA388664489 | COL4A1 | c.3326-2A>C (n.3326-2A>C) c.3134-2A>C (n.3134-2A>C) | |
| 13 | g.110174529A= | CA2118737666 | COL4A1 | c.3326-3T= (n.3326-3T=) c.3134-3T= (n.3134-3T=) | |
| 13 | g.110174529A>G | CA960161781 | COL4A1 | c.3326-3T>C (n.3326-3T>C) c.3134-3T>C (n.3134-3T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174531A>G | CA2580087147 | COL4A1 | c.3326-5T>C (n.3326-5T>C) c.3134-5T>C (n.3134-5T>C) | ClinVar |
| 13 | g.110174532G>A | CA2800581142 | COL4A1 | c.3326-6C>T (n.3326-6C>T) c.3134-6C>T (n.3134-6C>T) | |
| 13 | g.110174532_110174533delinsGA | CA2118737667 | COL4A1 | c.3326-7_3326-6delinsTC (n.3326-7_3326-6delinsTC) c.3134-7_3134-6delinsTC (n.3134-7_3134-6delinsTC) | |
| 13 | g.110174533A= | CA2118737668 | COL4A1 | c.3326-7T= (n.3326-7T=) c.3134-7T= (n.3134-7T=) | |
| 13 | g.110174533A>G | CA695035833 | COL4A1 | c.3326-7T>C (n.3326-7T>C) c.3134-7T>C (n.3134-7T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174539dup | CA7047291 | COL4A1 | c.3326-7dup (n.3326-7dup) c.3134-7dup (n.3134-7dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174538_110174539dup | CA2623673463 | COL4A1 | c.3326-8_3326-7dup (n.3326-8_3326-7dup) c.3134-8_3134-7dup (n.3134-8_3134-7dup) | gnomAD v4 |
| 13 | g.110174539del | CA256253734 | COL4A1 | c.3326-7del (n.3326-7del) c.3134-7del (n.3134-7del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.110174535A>G | CA2575453893 | COL4A1 | c.3326-9T>C (n.3326-9T>C) c.3134-9T>C (n.3134-9T>C) | |
| 13 | g.110174538A= | CA2118737670 | COL4A1 | c.3326-12T= (n.3326-12T=) c.3134-12T= (n.3134-12T=) | |
| 13 | g.110174538A>C | CA256253738 | COL4A1 | c.3326-12T>G (n.3326-12T>G) c.3134-12T>G (n.3134-12T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.110174539A= | CA2118737671 | COL4A1 | c.3326-13T= (n.3326-13T=) c.3134-13T= (n.3134-13T=) | |
| 13 | g.110174539A>C | CA7047292 | COL4A1 | c.3326-13T>G (n.3326-13T>G) c.3134-13T>G (n.3134-13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.110174541_110174547del | CA2623673464 | COL4A1 | c.3326-19_3326-13del (n.3326-19_3326-13del) c.3134-19_3134-13del (n.3134-19_3134-13del) | gnomAD v4 |
| 13 | g.110174540C>A | CA256253745 | COL4A1 | c.3326-14G>T (n.3326-14G>T) c.3134-14G>T (n.3134-14G>T) | dbSNP |
| 13 | g.110174540C= | CA2118737672 | COL4A1 | c.3326-14G= (n.3326-14G=) c.3134-14G= (n.3134-14G=) | |
| 13 | g.110174540C>T | CA7047293 | COL4A1 | c.3326-14G>A (n.3326-14G>A) c.3134-14G>A (n.3134-14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.110174541A= | CA2118737673 | COL4A1 | c.3326-15T= (n.3326-15T=) c.3134-15T= (n.3134-15T=) | |
| 13 | g.110174541A>C | CA2800581143 | COL4A1 | c.3326-15T>G (n.3326-15T>G) c.3134-15T>G (n.3134-15T>G) | |
| 13 | g.110174541A>G | CA2118737674 | COL4A1 | c.3326-15T>C (n.3326-15T>C) c.3134-15T>C (n.3134-15T>C) | dbSNP gnomAD v4 |
| 13 | g.110174543_110174544dup | CA2623673465 | COL4A1 | c.3326-16_3326-15dup (n.3326-16_3326-15dup) c.3134-16_3134-15dup (n.3134-16_3134-15dup) | gnomAD v4 |
| 13 | g.110174542A= | CA2118737675 | COL4A1 | c.3326-16T= (n.3326-16T=) c.3134-16T= (n.3134-16T=) | |
| 13 | g.110174542A>G | CA960161792 | COL4A1 | c.3326-16T>C (n.3326-16T>C) c.3134-16T>C (n.3134-16T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.110174545C= | CA2118737677 | COL4A1 | c.3326-19G= (n.3326-19G=) c.3134-19G= (n.3134-19G=) | |
| 13 | g.110174545C>T | CA612866303 | COL4A1 | c.3326-19G>A (n.3326-19G>A) c.3134-19G>A (n.3134-19G>A) | dbSNP gnomAD v2 |