| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.45476378_45476395dup | CA10065944 | COL18A1 | c.1366_1383dup (p.Thr461_Thr462insAlaProProProValThr) c.826_843dup (p.Thr281_Thr282insAlaProProProValThr) c.2071_2088dup (p.Thr696_Thr697insAlaProProProValThr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476380G>A | CA10065949 | COL18A1 | c.1368G>A (p.Ala456=) c.828G>A (p.Ala276=) c.2073G>A (p.Ala691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476380G>C | CA512709503 | COL18A1 | c.1368G>C (p.Ala456=) c.828G>C (p.Ala276=) c.2073G>C (p.Ala691=) | |
| 21 | g.45476380G= | CA2392171576 | COL18A1 | c.1368G= (p.Ala456=) c.828G= (p.Ala276=) c.2073G= (p.Ala691=) | |
| 21 | g.45476380G>T | CA512709500 | COL18A1 | c.1368G>T (p.Ala456=) c.828G>T (p.Ala276=) c.2073G>T (p.Ala691=) | |
| 21 | g.45476380_45476391dup | CA2392171575 | COL18A1 | c.1368_1379dup (p.Val460_Thr461insProProProVal) c.828_839dup (p.Val280_Thr281insProProProVal) c.2073_2084dup (p.Val695_Thr696insProProProVal) | dbSNP |
| 21 | g.45476381C>A | CA410514343 | COL18A1 | c.1369C>A (p.Pro457Thr) c.829C>A (p.Pro277Thr) c.2074C>A (p.Pro692Thr) | |
| 21 | g.45476381C>G | CA410514345 | COL18A1 | c.1369C>G (p.Pro457Ala) c.829C>G (p.Pro277Ala) c.2074C>G (p.Pro692Ala) | |
| 21 | g.45476381C>T | CA410514347 | COL18A1 | c.1369C>T (p.Pro457Ser) c.829C>T (p.Pro277Ser) c.2074C>T (p.Pro692Ser) | gnomAD v4 |
| 21 | g.45476383_45476385dup | CA10065950 | COL18A1 | c.1371_1373dup (p.Pro458_Pro459insPro) c.831_833dup (p.Pro278_Pro279insPro) c.2076_2078dup (p.Pro693_Pro694insPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476382C>A | CA410514350 | COL18A1 | c.1370C>A (p.Pro457Gln) c.830C>A (p.Pro277Gln) c.2075C>A (p.Pro692Gln) | |
| 21 | g.45476382C= | CA2392171577 | COL18A1 | c.1370C= (p.Pro457=) c.830C= (p.Pro277=) c.2075C= (p.Pro692=) | |
| 21 | g.45476382C>G | CA410514349 | COL18A1 | c.1370C>G (p.Pro457Arg) c.830C>G (p.Pro277Arg) c.2075C>G (p.Pro692Arg) | |
| 21 | g.45476382C>T | CA10065951 | COL18A1 | c.1370C>T (p.Pro457Leu) c.830C>T (p.Pro277Leu) c.2075C>T (p.Pro692Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476383A>C | CA512709517 | COL18A1 | c.1371A>C (p.Pro457=) c.831A>C (p.Pro277=) c.2076A>C (p.Pro692=) | |
| 21 | g.45476383A>G | CA512709522 | COL18A1 | c.1371A>G (p.Pro457=) c.831A>G (p.Pro277=) c.2076A>G (p.Pro692=) | COSMIC COSMIC COSMIC |
| 21 | g.45476383A>T | CA512709519 | COL18A1 | c.1371A>T (p.Pro457=) c.831A>T (p.Pro277=) c.2076A>T (p.Pro692=) | |
| 21 | g.45476383_45476384delinsAC | CA2392171578 | COL18A1 | c.1371_1372delinsAC (p.Pro457=) c.831_832delinsAC (p.Pro277=) c.2076_2077delinsAC (p.Pro692=) | |
| 21 | g.45476384C>A | CA10065953 | COL18A1 | c.1372C>A (p.Pro458Thr) c.832C>A (p.Pro278Thr) c.2077C>A (p.Pro693Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476384C= | CA2392171579 | COL18A1 | c.1372C= (p.Pro458=) c.832C= (p.Pro278=) c.2077C= (p.Pro693=) | |
| 21 | g.45476384C>G | CA410514351 | COL18A1 | c.1372C>G (p.Pro458Ala) c.832C>G (p.Pro278Ala) c.2077C>G (p.Pro693Ala) | |
| 21 | g.45476384C>T | CA410514353 | COL18A1 | c.1372C>T (p.Pro458Ser) c.832C>T (p.Pro278Ser) c.2077C>T (p.Pro693Ser) | gnomAD v4 |
| 21 | g.45476389dup | CA10065952 | COL18A1 | c.1377dup (p.Val460ArgfsTer18) c.837dup (p.Val280ArgfsTer18) c.2082dup (p.Val695ArgfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476389del | CA645602036 | COL18A1 | c.1377del (p.Val460SerfsTer29) c.837del (p.Val280SerfsTer29) c.2082del (p.Val695SerfsTer29) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.45476385C>A | CA410514354 | COL18A1 | c.1373C>A (p.Pro458His) c.833C>A (p.Pro278His) c.2078C>A (p.Pro693His) | |
| 21 | g.45476385C>G | CA410514359 | COL18A1 | c.1373C>G (p.Pro458Arg) c.833C>G (p.Pro278Arg) c.2078C>G (p.Pro693Arg) | |
| 21 | g.45476385C>T | CA410514360 | COL18A1 | c.1373C>T (p.Pro458Leu) c.833C>T (p.Pro278Leu) c.2078C>T (p.Pro693Leu) | |
| 21 | g.45476386C>A | CA512709536 | COL18A1 | c.1374C>A (p.Pro458=) c.834C>A (p.Pro278=) c.2079C>A (p.Pro693=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476386C= | CA2392171580 | COL18A1 | c.1374C= (p.Pro458=) c.834C= (p.Pro278=) c.2079C= (p.Pro693=) | |
| 21 | g.45476386C>G | CA512709534 | COL18A1 | c.1374C>G (p.Pro458=) c.834C>G (p.Pro278=) c.2079C>G (p.Pro693=) | dbSNP |
| 21 | g.45476386C>T | CA512709535 | COL18A1 | c.1374C>T (p.Pro458=) c.834C>T (p.Pro278=) c.2079C>T (p.Pro693=) | ClinVar dbSNP |
| 21 | g.45476387C>A | CA410514362 | COL18A1 | c.1375C>A (p.Pro459Thr) c.835C>A (p.Pro279Thr) c.2080C>A (p.Pro694Thr) | |
| 21 | g.45476387C= | CA2392171581 | COL18A1 | c.1375C= (p.Pro459=) c.835C= (p.Pro279=) c.2080C= (p.Pro694=) | |
| 21 | g.45476387C>G | CA410514363 | COL18A1 | c.1375C>G (p.Pro459Ala) c.835C>G (p.Pro279Ala) c.2080C>G (p.Pro694Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.45476387C>T | CA410514364 | COL18A1 | c.1375C>T (p.Pro459Ser) c.835C>T (p.Pro279Ser) c.2080C>T (p.Pro694Ser) | |
| 21 | g.45476388C>A | CA410514365 | COL18A1 | c.1376C>A (p.Pro459His) c.836C>A (p.Pro279His) c.2081C>A (p.Pro694His) | |
| 21 | g.45476388C= | CA2392171582 | COL18A1 | c.1376C= (p.Pro459=) c.836C= (p.Pro279=) c.2081C= (p.Pro694=) | |
| 21 | g.45476388C>G | CA10065955 | COL18A1 | c.1376C>G (p.Pro459Arg) c.836C>G (p.Pro279Arg) c.2081C>G (p.Pro694Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476388C>T | CA10065954 | COL18A1 | c.1376C>T (p.Pro459Leu) c.836C>T (p.Pro279Leu) c.2081C>T (p.Pro694Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476388_45476389delinsTG | CA2580098868 | COL18A1 | c.1376_1377delinsTG (p.Pro459Leu) c.836_837delinsTG (p.Pro279Leu) c.2081_2082delinsTG (p.Pro694Leu) | ClinVar |
| 21 | g.45476389C>A | CA10065957 | COL18A1 | c.1377C>A (p.Pro459=) c.837C>A (p.Pro279=) c.2082C>A (p.Pro694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476389C= | CA2392171583 | COL18A1 | c.1377C= (p.Pro459=) c.837C= (p.Pro279=) c.2082C= (p.Pro694=) | |
| 21 | g.45476389C>G | CA10065956 | COL18A1 | c.1377C>G (p.Pro459=) c.837C>G (p.Pro279=) c.2082C>G (p.Pro694=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.45476389C>T | CA10065958 | COL18A1 | c.1377C>T (p.Pro459=) c.837C>T (p.Pro279=) c.2082C>T (p.Pro694=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.45476390_45476392del | CA2654909368 | COL18A1 | c.1378_1380del (p.Val460del) c.838_840del (p.Val280del) c.2083_2085del (p.Val695del) | gnomAD v4 |
| 21 | g.45476390G>A | CA10065959 | COL18A1 | c.1378G>A (p.Val460Ile) c.838G>A (p.Val280Ile) c.2083G>A (p.Val695Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 21 | g.45476390G>C | CA410514369 | COL18A1 | c.1378G>C (p.Val460Leu) c.838G>C (p.Val280Leu) c.2083G>C (p.Val695Leu) | |
| 21 | g.45476390G= | CA2392171584 | COL18A1 | c.1378G= (p.Val460=) c.838G= (p.Val280=) c.2083G= (p.Val695=) | |
| 21 | g.45476390G>T | CA410514371 | COL18A1 | c.1378G>T (p.Val460Phe) c.838G>T (p.Val280Phe) c.2083G>T (p.Val695Phe) | |
| 21 | g.45476390dup | CA638496979 | COL18A1 | c.1378dup (p.Val460GlyfsTer18) c.838dup (p.Val280GlyfsTer18) c.2083dup (p.Val695GlyfsTer18) | dbSNP gnomAD v2 gnomAD v4 |