| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134835054G>A | CA467666935 | COL5A1 | c.5220G>A (p.Gln1740=) c.478G>A n.71-14845C>T n.5904G>A n.5772G>A | |
| 9 | g.134835054G>C | CA375460455 | COL5A1 | c.5220G>C (p.Gln1740His) c.478G>C n.71-14845C>G n.5904G>C n.5772G>C | |
| 9 | g.134835054G>T | CA375460456 | COL5A1 | c.5220G>T (p.Gln1740His) c.478G>T n.71-14845C>A n.5904G>T n.5772G>T | |
| 9 | g.134835055A>C | CA375460457 | COL5A1 | c.5221A>C (p.Asn1741His) c.479A>C n.71-14846T>G n.5905A>C n.5773A>C | |
| 9 | g.134835055A>G | CA375460458 | COL5A1 | c.5221A>G (p.Asn1741Asp) c.479A>G n.71-14846T>C n.5905A>G n.5773A>G | |
| 9 | g.134835055A>T | CA375460459 | COL5A1 | c.5221A>T (p.Asn1741Tyr) c.479A>T n.71-14846T>A n.5905A>T n.5773A>T | |
| 9 | g.134835056A= | CA1883392982 | COL5A1 | c.5222A= (p.Asn1741=) c.480A= n.71-14847T= n.5906A= n.5774A= | |
| 9 | g.134835056A>C | CA375460460 | COL5A1 | c.5222A>C (p.Asn1741Thr) c.480A>C n.71-14847T>G n.5906A>C n.5774A>C | |
| 9 | g.134835056A>G | CA375460461 | COL5A1 | c.5222A>G (p.Asn1741Ser) c.480A>G n.71-14847T>C n.5906A>G n.5774A>G | |
| 9 | g.134835056A>T | CA375460462 | COL5A1 | c.5222A>T (p.Asn1741Ile) c.480A>T n.71-14847T>A n.5906A>T n.5774A>T | dbSNP |
| 9 | g.134835057C>A | CA375460463 | COL5A1 | c.5223C>A (p.Asn1741Lys) c.481C>A n.71-14848G>T n.5907C>A n.5775C>A | |
| 9 | g.134835057C= | CA1883392983 | COL5A1 | c.5223C= (p.Asn1741=) c.481C= n.71-14848G= n.5907C= n.5775C= | |
| 9 | g.134835057C>G | CA375460464 | COL5A1 | c.5223C>G (p.Asn1741Lys) c.481C>G n.71-14848G>C n.5907C>G n.5775C>G | |
| 9 | g.134835057C>T | CA5320671 | COL5A1 | c.5223C>T (p.Asn1741=) c.481C>T n.71-14848G>A n.5907C>T n.5775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835058G>A | CA201113787 | COL5A1 | c.5224G>A (p.Val1742Ile) c.482G>A n.71-14849C>T n.5908G>A n.5776G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835058G>C | CA375460467 | COL5A1 | c.5224G>C (p.Val1742Leu) c.482G>C n.71-14849C>G n.5908G>C n.5776G>C | |
| 9 | g.134835058G= | CA1883392984 | COL5A1 | c.5224G= (p.Val1742=) c.482G= n.71-14849C= n.5908G= n.5776G= | |
| 9 | g.134835058G>T | CA375460465 | COL5A1 | c.5224G>T (p.Val1742Phe) c.482G>T n.71-14849C>A n.5908G>T n.5776G>T | gnomAD v4 |
| 9 | g.134835059T>A | CA375460470 | COL5A1 | c.5225T>A (p.Val1742Asp) c.483T>A n.71-14850A>T n.5909T>A n.5777T>A | |
| 9 | g.134835059T>C | CA375460471 | COL5A1 | c.5225T>C (p.Val1742Ala) c.483T>C n.71-14850A>G n.5909T>C n.5777T>C | |
| 9 | g.134835059T>G | CA375460472 | COL5A1 | c.5225T>G (p.Val1742Gly) c.483T>G n.71-14850A>C n.5909T>G n.5777T>G | |
| 9 | g.134835059_134835068delinsTCACCTACCA | CA1883392985 | COL5A1 | c.5225_5234delinsTCACCTACCA (p.Val1742=) c.483_492delinsTCACCTACCA n.71-14859_71-14850delinsTGGTAGGTGA | |
| 9 | g.134835060C>A | CA467666970 | COL5A1 | c.5226C>A (p.Val1742=) c.484C>A n.71-14851G>T n.5910C>A n.5778C>A | |
| 9 | g.134835060C= | CA1883392986 | COL5A1 | c.5226C= (p.Val1742=) c.484C= n.71-14851G= n.5910C= n.5778C= | |
| 9 | g.134835060C>G | CA467666966 | COL5A1 | c.5226C>G (p.Val1742=) c.484C>G n.71-14851G>C n.5910C>G n.5778C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835060C>T | CA467666968 | COL5A1 | c.5226C>T (p.Val1742=) c.484C>T n.71-14851G>A n.5910C>T n.5778C>T | ClinVar dbSNP |
| 9 | g.134835061_134835069del | CA16618790 | COL5A1 | c.5227_5235del (p.Thr1743_His1745del) c.485_493del n.71-14859_71-14851del | ClinVar dbSNP |
| 9 | g.134835061A= | CA1883392987 | COL5A1 | c.5227A= (p.Thr1743=) c.485A= n.71-14852T= | |
| 9 | g.134835061A>C | CA5320672 | COL5A1 | c.5227A>C (p.Thr1743Pro) c.485A>C n.71-14852T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835061A>G | CA375460475 | COL5A1 | c.5227A>G (p.Thr1743Ala) c.485A>G n.71-14852T>C | |
| 9 | g.134835061A>T | CA375460477 | COL5A1 | c.5227A>T (p.Thr1743Ser) c.485A>T n.71-14852T>A | |
| 9 | g.134835062C>A | CA375460479 | COL5A1 | c.5228C>A (p.Thr1743Asn) c.486C>A n.71-14853G>T | |
| 9 | g.134835062C>G | CA375460481 | COL5A1 | c.5228C>G (p.Thr1743Ser) c.486C>G n.71-14853G>C | gnomAD v4 |
| 9 | g.134835062C>T | CA375460482 | COL5A1 | c.5228C>T (p.Thr1743Ile) c.486C>T n.71-14853G>A | gnomAD v4 |
| 9 | g.134835063C>A | CA467666982 | COL5A1 | c.5229C>A (p.Thr1743=) c.487C>A n.71-14854G>T | |
| 9 | g.134835063C= | CA1883392988 | COL5A1 | c.5229C= (p.Thr1743=) c.487C= n.71-14854G= | |
| 9 | g.134835063C>G | CA467666980 | COL5A1 | c.5229C>G (p.Thr1743=) c.487C>G n.71-14854G>C | dbSNP |
| 9 | g.134835063C>T | CA467666978 | COL5A1 | c.5229C>T (p.Thr1743=) c.487C>T n.71-14854G>A | |
| 9 | g.134835063_134835064del | CA2573144156 | COL5A1 | c.5229_5230del (p.Tyr1744ProfsTer?) c.487_488del n.71-14855_71-14854del | ClinVar dbSNP |
| 9 | g.134835064T>A | CA375460485 | COL5A1 | c.5230T>A (p.Tyr1744Asn) c.488T>A n.71-14855A>T | |
| 9 | g.134835064T>C | CA375460486 | COL5A1 | c.5230T>C (p.Tyr1744His) c.488T>C n.71-14855A>G | COSMIC |
| 9 | g.134835064T>G | CA375460488 | COL5A1 | c.5230T>G (p.Tyr1744Asp) c.488T>G n.71-14855A>C | |
| 9 | g.134835065A= | CA1883392989 | COL5A1 | c.5231A= (p.Tyr1744=) c.489A= n.71-14856T= | |
| 9 | g.134835065A>C | CA375460494 | COL5A1 | c.5231A>C (p.Tyr1744Ser) c.489A>C n.71-14856T>G | |
| 9 | g.134835065A>G | CA375460492 | COL5A1 | c.5231A>G (p.Tyr1744Cys) c.489A>G n.71-14856T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835065A>T | CA375460490 | COL5A1 | c.5231A>T (p.Tyr1744Phe) c.489A>T n.71-14856T>A | |
| 9 | g.134835066C>A | CA375460495 | COL5A1 | c.5232C>A (p.Tyr1744Ter) c.490C>A n.71-14857G>T | |
| 9 | g.134835066C>G | CA375460497 | COL5A1 | c.5232C>G (p.Tyr1744Ter) c.490C>G n.71-14857G>C | |
| 9 | g.134835066C>T | CA467666993 | COL5A1 | c.5232C>T (p.Tyr1744=) c.490C>T n.71-14857G>A | |
| 9 | g.134835067C>A | CA375460500 | COL5A1 | c.5233C>A (p.His1745Asn) c.491C>A n.71-14858G>T | |
| 9 | g.134835067C= | CA1883392990 | COL5A1 | c.5233C= (p.His1745=) c.491C= n.71-14858G= | |
| 9 | g.134835067C>G | CA375460501 | COL5A1 | c.5233C>G (p.His1745Asp) c.491C>G n.71-14858G>C | |
| 9 | g.134835067C>T | CA201113792 | COL5A1 | c.5233C>T (p.His1745Tyr) c.491C>T n.71-14858G>A | dbSNP gnomAD v4 |
| 9 | g.134835068A= | CA1883392991 | COL5A1 | c.5234A= (p.His1745=) c.492A= n.71-14859T= | |
| 9 | g.134835068A>C | CA375460504 | COL5A1 | c.5234A>C (p.His1745Pro) c.492A>C n.71-14859T>G | |
| 9 | g.134835068A>G | CA5320673 | COL5A1 | c.5234A>G (p.His1745Arg) c.492A>G n.71-14859T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835068A>T | CA201113799 | COL5A1 | c.5234A>T (p.His1745Leu) c.492A>T n.71-14859T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835069C>A | CA375460508 | COL5A1 | c.5235C>A (p.His1745Gln) c.493C>A n.71-14860G>T | |
| 9 | g.134835069C>G | CA375460510 | COL5A1 | c.5235C>G (p.His1745Gln) c.493C>G n.71-14860G>C | |
| 9 | g.134835069C>T | CA467667008 | COL5A1 | c.5235C>T (p.His1745=) c.493C>T n.71-14860G>A | |
| 9 | g.134835070T>A | CA375460512 | COL5A1 | c.5236T>A (p.Cys1746Ser) c.494T>A n.71-14861A>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835070T>C | CA375460514 | COL5A1 | c.5236T>C (p.Cys1746Arg) c.494T>C n.71-14861A>G | |
| 9 | g.134835070T>G | CA375460516 | COL5A1 | c.5236T>G (p.Cys1746Gly) c.494T>G n.71-14861A>C | |
| 9 | g.134835070T= | CA1883392992 | COL5A1 | c.5236T= (p.Cys1746=) c.494T= n.71-14861A= | |
| 9 | g.134835071G>A | CA375460520 | COL5A1 | c.5237G>A (p.Cys1746Tyr) c.495G>A n.71-14862C>T | |
| 9 | g.134835071G>C | CA375460521 | COL5A1 | c.5237G>C (p.Cys1746Ser) c.495G>C n.71-14862C>G | |
| 9 | g.134835071G= | CA1883392993 | COL5A1 | c.5237G= (p.Cys1746=) c.495G= n.71-14862C= | |
| 9 | g.134835071G>T | CA375460518 | COL5A1 | c.5237G>T (p.Cys1746Phe) c.495G>T n.71-14862C>A | |
| 9 | g.134835072C>A | CA375460524 | COL5A1 | c.5238C>A (p.Cys1746Ter) c.496C>A n.71-14863G>T | |
| 9 | g.134835072C>G | CA375460522 | COL5A1 | c.5238C>G (p.Cys1746Trp) c.496C>G n.71-14863G>C | |
| 9 | g.134835072C>T | CA467667017 | COL5A1 | c.5238C>T (p.Cys1746=) c.496C>T n.71-14863G>A | gnomAD v4 |
| 9 | g.134835073_134835075dup | CA591363548 | COL5A1 | c.5239_5241dup (p.Tyr1747_Gln1748insTyr) c.497_499dup n.71-14865_71-14863dup | dbSNP gnomAD v2 |
| 9 | g.134835073_134835075del | CA2692461731 | COL5A1 | c.5239_5241del (p.Tyr1747del) c.497_499del n.71-14865_71-14863del | gnomAD v4 |
| 9 | g.134835073T>A | CA375460529 | COL5A1 | c.5239T>A (p.Tyr1747Asn) c.497T>A n.71-14864A>T | |
| 9 | g.134835073T>C | CA375460526 | COL5A1 | c.5239T>C (p.Tyr1747His) c.497T>C n.71-14864A>G | |
| 9 | g.134835073T>G | CA375460527 | COL5A1 | c.5239T>G (p.Tyr1747Asp) c.497T>G n.71-14864A>C | |
| 9 | g.134835074A= | CA1883392994 | COL5A1 | c.5240A= (p.Tyr1747=) c.498A= n.71-14865T= | |
| 9 | g.134835074A>C | CA375460531 | COL5A1 | c.5240A>C (p.Tyr1747Ser) c.498A>C n.71-14865T>G | |
| 9 | g.134835074A>G | CA375460532 | COL5A1 | c.5240A>G (p.Tyr1747Cys) c.498A>G n.71-14865T>C | dbSNP gnomAD v4 |
| 9 | g.134835074A>T | CA375460534 | COL5A1 | c.5240A>T (p.Tyr1747Phe) c.498A>T n.71-14865T>A | |
| 9 | g.134835075C>A | CA375460538 | COL5A1 | c.5241C>A (p.Tyr1747Ter) c.499C>A n.71-14866G>T | ClinVar |
| 9 | g.134835075C>G | CA375460540 | COL5A1 | c.5241C>G (p.Tyr1747Ter) c.499C>G n.71-14866G>C | ClinVar |
| 9 | g.134835075C>T | CA467667030 | COL5A1 | c.5241C>T (p.Tyr1747=) c.499C>T n.71-14866G>A | |
| 9 | g.134835076C>A | CA375460542 | COL5A1 | c.5242C>A (p.Gln1748Lys) c.500C>A n.71-14867G>T | |
| 9 | g.134835076C= | CA1883392995 | COL5A1 | c.5242C= (p.Gln1748=) c.500C= n.71-14867G= | |
| 9 | g.134835076C>G | CA375460543 | COL5A1 | c.5242C>G (p.Gln1748Glu) c.500C>G n.71-14867G>C | |
| 9 | g.134835076C>T | CA201113803 | COL5A1 | c.5242C>T (p.Gln1748Ter) c.500C>T n.71-14867G>A | dbSNP |
| 9 | g.134835077A>C | CA375460546 | COL5A1 | c.5243A>C (p.Gln1748Pro) c.501A>C n.71-14868T>G | |
| 9 | g.134835077A>G | CA375460548 | COL5A1 | c.5243A>G (p.Gln1748Arg) c.501A>G n.71-14868T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835077A>T | CA375460549 | COL5A1 | c.5243A>T (p.Gln1748Leu) c.501A>T n.71-14868T>A | |
| 9 | g.134835078G>A | CA467667038 | COL5A1 | c.5244G>A (p.Gln1748=) c.502G>A n.71-14869C>T | gnomAD v4 |
| 9 | g.134835078G>C | CA375460554 | COL5A1 | c.5244G>C (p.Gln1748His) c.502G>C n.71-14869C>G | |
| 9 | g.134835078G>T | CA375460552 | COL5A1 | c.5244G>T (p.Gln1748His) c.502G>T n.71-14869C>A | |
| 9 | g.134835079T>A | CA375460556 | COL5A1 | c.5245T>A (p.Ser1749Thr) c.503T>A n.71-14870A>T | |
| 9 | g.134835079T>C | CA375460558 | COL5A1 | c.5245T>C (p.Ser1749Pro) c.503T>C n.71-14870A>G | |
| 9 | g.134835079T>G | CA375460560 | COL5A1 | c.5245T>G (p.Ser1749Ala) c.503T>G n.71-14870A>C | |
| 9 | g.134835080C>A | CA375460561 | COL5A1 | c.5246C>A (p.Ser1749Ter) c.504C>A n.71-14871G>T | |
| 9 | g.134835080C>G | CA375460563 | COL5A1 | c.5246C>G (p.Ser1749Ter) c.504C>G n.71-14871G>C | |
| 9 | g.134835080C>T | CA375460565 | COL5A1 | c.5246C>T (p.Ser1749Leu) c.504C>T n.71-14871G>A | gnomAD v4 |
| 9 | g.134835081A= | CA1883392996 | COL5A1 | c.5247A= (p.Ser1749=) c.505A= n.71-14872T= | |
| 9 | g.134835081A>C | CA467667053 | COL5A1 | c.5247A>C (p.Ser1749=) c.505A>C n.71-14872T>G | |
| 9 | g.134835081A>G | CA5320674 | COL5A1 | c.5247A>G (p.Ser1749=) c.505A>G n.71-14872T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835081A>T | CA467667050 | COL5A1 | c.5247A>T (p.Ser1749=) c.505A>T n.71-14872T>A | |
| 9 | g.134835082G>A | CA375460568 | COL5A1 | c.5248G>A (p.Val1750Met) c.506G>A n.71-14873C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835082G>C | CA375460570 | COL5A1 | c.5248G>C (p.Val1750Leu) c.506G>C n.71-14873C>G | |
| 9 | g.134835082G= | CA1883392997 | COL5A1 | c.5248G= (p.Val1750=) c.506G= n.71-14873C= | |
| 9 | g.134835082G>T | CA375460571 | COL5A1 | c.5248G>T (p.Val1750Leu) c.506G>T n.71-14873C>A | |
| 9 | g.134835083T>A | CA375460573 | COL5A1 | c.5249T>A (p.Val1750Glu) c.507T>A n.71-14874A>T | |
| 9 | g.134835083T>C | CA375460575 | COL5A1 | c.5249T>C (p.Val1750Ala) c.507T>C n.71-14874A>G | |
| 9 | g.134835083T>G | CA375460577 | COL5A1 | c.5249T>G (p.Val1750Gly) c.507T>G n.71-14874A>C | |
| 9 | g.134835084G>A | CA290317 | COL5A1 | c.5250G>A (p.Val1750=) c.508G>A n.71-14875C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835084G>C | CA467667064 | COL5A1 | c.5250G>C (p.Val1750=) c.508G>C n.71-14875C>G | |
| 9 | g.134835084G= | CA1883392998 | COL5A1 | c.5250G= (p.Val1750=) c.508G= n.71-14875C= | |
| 9 | g.134835084G>T | CA467667062 | COL5A1 | c.5250G>T (p.Val1750=) c.508G>T n.71-14875C>A | |
| 9 | g.134835085G>A | CA375460583 | COL5A1 | c.5251G>A (p.Ala1751Thr) c.509G>A n.71-14876C>T | |
| 9 | g.134835085G>C | CA375460581 | COL5A1 | c.5251G>C (p.Ala1751Pro) c.509G>C n.71-14876C>G | |
| 9 | g.134835085G>T | CA375460582 | COL5A1 | c.5251G>T (p.Ala1751Ser) c.509G>T n.71-14876C>A | |
| 9 | g.134835086C>A | CA375460586 | COL5A1 | c.5252C>A (p.Ala1751Asp) c.510C>A n.71-14877G>T | |
| 9 | g.134835086C>G | CA375460588 | COL5A1 | c.5252C>G (p.Ala1751Gly) c.510C>G n.71-14877G>C | |
| 9 | g.134835086C>T | CA375460589 | COL5A1 | c.5252C>T (p.Ala1751Val) c.510C>T n.71-14877G>A | |
| 9 | g.134835087C>A | CA467667073 | COL5A1 | c.5253C>A (p.Ala1751=) c.511C>A n.71-14878G>T | |
| 9 | g.134835087C>G | CA467667076 | COL5A1 | c.5253C>G (p.Ala1751=) c.511C>G n.71-14878G>C | |
| 9 | g.134835087C>T | CA467667077 | COL5A1 | c.5253C>T (p.Ala1751=) c.511C>T n.71-14878G>A | |
| 9 | g.134835088T>A | CA375460594 | COL5A1 | c.5254T>A (p.Trp1752Arg) c.512T>A n.71-14879A>T | |
| 9 | g.134835088T>C | CA375460593 | COL5A1 | c.5254T>C (p.Trp1752Arg) c.512T>C n.71-14879A>G | |
| 9 | g.134835088T>G | CA375460591 | COL5A1 | c.5254T>G (p.Trp1752Gly) c.512T>G n.71-14879A>C | |
| 9 | g.134835089G>A | CA375460596 | COL5A1 | c.5255G>A (p.Trp1752Ter) c.513G>A n.71-14880C>T | |
| 9 | g.134835089G>C | CA5320675 | COL5A1 | c.5255G>C (p.Trp1752Ser) c.513G>C n.71-14880C>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.134835089G= | CA1883392999 | COL5A1 | c.5255G= (p.Trp1752=) c.513G= n.71-14880C= | |
| 9 | g.134835089G>T | CA375460599 | COL5A1 | c.5255G>T (p.Trp1752Leu) c.513G>T n.71-14880C>A | |
| 9 | g.134835090G>A | CA375460601 | COL5A1 | c.5256G>A (p.Trp1752Ter) c.514G>A n.71-14881C>T | |
| 9 | g.134835090G>C | CA375460603 | COL5A1 | c.5256G>C (p.Trp1752Cys) c.514G>C n.71-14881C>G | |
| 9 | g.134835090G>T | CA375460604 | COL5A1 | c.5256G>T (p.Trp1752Cys) c.514G>T n.71-14881C>A | |
| 9 | g.134835091C>A | CA375460606 | COL5A1 | c.5257C>A (p.Gln1753Lys) c.515C>A n.71-14882G>T | gnomAD v4 |
| 9 | g.134835091C>G | CA375460610 | COL5A1 | c.5257C>G (p.Gln1753Glu) c.515C>G n.71-14882G>C | |
| 9 | g.134835091C>T | CA375460608 | COL5A1 | c.5257C>T (p.Gln1753Ter) c.515C>T n.71-14882G>A | |
| 9 | g.134835092A>C | CA375460612 | COL5A1 | c.5258A>C (p.Gln1753Pro) c.516A>C n.71-14883T>G | |
| 9 | g.134835092A>G | CA375460614 | COL5A1 | c.5258A>G (p.Gln1753Arg) c.516A>G n.71-14883T>C | |
| 9 | g.134835092A>T | CA375460616 | COL5A1 | c.5258A>T (p.Gln1753Leu) c.516A>T n.71-14883T>A | |
| 9 | g.134835093G>A | CA467667094 | COL5A1 | c.5259G>A (p.Gln1753=) c.517G>A n.71-14884C>T | |
| 9 | g.134835093G>C | CA375460617 | COL5A1 | c.5259G>C (p.Gln1753His) c.517G>C n.71-14884C>G | |
| 9 | g.134835093G>T | CA375460619 | COL5A1 | c.5259G>T (p.Gln1753His) c.517G>T n.71-14884C>A | |
| 9 | g.134835094G>A | CA375460621 | COL5A1 | c.5260G>A (p.Asp1754Asn) c.518G>A n.71-14885C>T | |
| 9 | g.134835094G>C | CA375460623 | COL5A1 | c.5260G>C (p.Asp1754His) c.518G>C n.71-14885C>G | |
| 9 | g.134835094G>T | CA375460625 | COL5A1 | c.5260G>T (p.Asp1754Tyr) c.518G>T n.71-14885C>A | |
| 9 | g.134835095A>C | CA375460627 | COL5A1 | c.5261A>C (p.Asp1754Ala) c.519A>C n.71-14886T>G | |
| 9 | g.134835095A>G | CA375460629 | COL5A1 | c.5261A>G (p.Asp1754Gly) c.519A>G n.71-14886T>C | |
| 9 | g.134835095A>T | CA375460631 | COL5A1 | c.5261A>T (p.Asp1754Val) c.519A>T n.71-14886T>A | |
| 9 | g.134835096C>A | CA375460635 | COL5A1 | c.5262C>A (p.Asp1754Glu) c.520C>A n.71-14887G>T | |
| 9 | g.134835096C= | CA1883393000 | COL5A1 | c.5262C= (p.Asp1754=) c.520C= n.71-14887G= | |
| 9 | g.134835096C>G | CA375460633 | COL5A1 | c.5262C>G (p.Asp1754Glu) c.520C>G n.71-14887G>C | |
| 9 | g.134835096C>T | CA5320676 | COL5A1 | c.5262C>T (p.Asp1754=) c.520C>T n.71-14887G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835097G>A | CA5320677 | COL5A1 | c.5263G>A (p.Ala1755Thr) c.521G>A n.71-14888C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835097G>C | CA375460638 | COL5A1 | c.5263G>C (p.Ala1755Pro) c.521G>C n.71-14888C>G | COSMIC |
| 9 | g.134835097G= | CA1883393001 | COL5A1 | c.5263G= (p.Ala1755=) c.521G= n.71-14888C= | |
| 9 | g.134835097G>T | CA375460637 | COL5A1 | c.5263G>T (p.Ala1755Ser) c.521G>T n.71-14888C>A | |
| 9 | g.134835102_134835111del | CA2695211572 | COL5A1 | c.5268_5277del (p.Gly1758ThrfsTer?) c.526_535del n.71-14897_71-14888del | |
| 9 | g.134835098C>A | CA375460640 | COL5A1 | c.5264C>A (p.Ala1755Glu) c.522C>A n.71-14889G>T | |
| 9 | g.134835098C= | CA1883393002 | COL5A1 | c.5264C= (p.Ala1755=) c.522C= n.71-14889G= | |
| 9 | g.134835098C>G | CA375460642 | COL5A1 | c.5264C>G (p.Ala1755Gly) c.522C>G n.71-14889G>C | |
| 9 | g.134835098C>T | CA5320678 | COL5A1 | c.5264C>T (p.Ala1755Val) c.522C>T n.71-14889G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835099A= | CA1883393003 | COL5A1 | c.5265A= (p.Ala1755=) c.523A= n.71-14890T= | |
| 9 | g.134835099A>C | CA467667115 | COL5A1 | c.5265A>C (p.Ala1755=) c.523A>C n.71-14890T>G | dbSNP |
| 9 | g.134835099A>G | CA467667113 | COL5A1 | c.5265A>G (p.Ala1755=) c.523A>G n.71-14890T>C | gnomAD v4 |
| 9 | g.134835099A>T | CA467667118 | COL5A1 | c.5265A>T (p.Ala1755=) c.523A>T n.71-14890T>A | |
| 9 | g.134835100G>A | CA322619 | COL5A1 | c.5266G>A (p.Ala1756Thr) c.524G>A n.71-14891C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835100G>C | CA375460644 | COL5A1 | c.5266G>C (p.Ala1756Pro) c.524G>C n.71-14891C>G | |
| 9 | g.134835100G= | CA1883393004 | COL5A1 | c.5266G= (p.Ala1756=) c.524G= n.71-14891C= | |
| 9 | g.134835100G>T | CA375460645 | COL5A1 | c.5266G>T (p.Ala1756Ser) c.524G>T n.71-14891C>A | |
| 9 | g.134835101C>A | CA375460647 | COL5A1 | c.5267C>A (p.Ala1756Asp) c.525C>A n.71-14892G>T | |
| 9 | g.134835101C= | CA1883393005 | COL5A1 | c.5267C= (p.Ala1756=) c.525C= n.71-14892G= | |
| 9 | g.134835101C>G | CA375460648 | COL5A1 | c.5267C>G (p.Ala1756Gly) c.525C>G n.71-14892G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835101C>T | CA375460649 | COL5A1 | c.5267C>T (p.Ala1756Val) c.525C>T n.71-14892G>A | |
| 9 | g.134835102C>A | CA467667126 | COL5A1 | c.5268C>A (p.Ala1756=) c.526C>A n.71-14893G>T | |
| 9 | g.134835102C>G | CA467667131 | COL5A1 | c.5268C>G (p.Ala1756=) c.526C>G n.71-14893G>C | |
| 9 | g.134835102C>T | CA467667133 | COL5A1 | c.5268C>T (p.Ala1756=) c.526C>T n.71-14893G>A | gnomAD v4 |
| 9 | g.134835103A>C | CA375460652 | COL5A1 | c.5269A>C (p.Thr1757Pro) c.527A>C n.71-14894T>G | |
| 9 | g.134835103A>G | CA375460653 | COL5A1 | c.5269A>G (p.Thr1757Ala) c.527A>G n.71-14894T>C | |
| 9 | g.134835103A>T | CA375460655 | COL5A1 | c.5269A>T (p.Thr1757Ser) c.527A>T n.71-14894T>A | |
| 9 | g.134835104C>A | CA375460657 | COL5A1 | c.5270C>A (p.Thr1757Lys) c.528C>A n.71-14895G>T | |
| 9 | g.134835104C= | CA1883393006 | COL5A1 | c.5270C= (p.Thr1757=) c.528C= n.71-14895G= | |
| 9 | g.134835104C>G | CA375460659 | COL5A1 | c.5270C>G (p.Thr1757Arg) c.528C>G n.71-14895G>C | |
| 9 | g.134835104C>T | CA290320 | COL5A1 | c.5270C>T (p.Thr1757Met) c.528C>T n.71-14895G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835105G>A | CA5320679 | COL5A1 | c.5271G>A (p.Thr1757=) c.529G>A n.71-14896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835105G>C | CA467667141 | COL5A1 | c.5271G>C (p.Thr1757=) c.529G>C n.71-14896C>G | |
| 9 | g.134835105G= | CA1883393007 | COL5A1 | c.5271G= (p.Thr1757=) c.529G= n.71-14896C= | |
| 9 | g.134835105G>T | CA467667142 | COL5A1 | c.5271G>T (p.Thr1757=) c.529G>T n.71-14896C>A | |
| 9 | g.134835106G>A | CA375460663 | COL5A1 | c.5272G>A (p.Gly1758Ser) c.530G>A n.71-14897C>T | |
| 9 | g.134835106G>C | CA375460664 | COL5A1 | c.5272G>C (p.Gly1758Arg) c.530G>C n.71-14897C>G | gnomAD v4 |
| 9 | g.134835106G>T | CA375460665 | COL5A1 | c.5272G>T (p.Gly1758Cys) c.530G>T n.71-14897C>A | |
| 9 | g.134835107G>A | CA375460666 | COL5A1 | c.5273G>A (p.Gly1758Asp) c.531G>A n.71-14898C>T | |
| 9 | g.134835107G>C | CA375460668 | COL5A1 | c.5273G>C (p.Gly1758Ala) c.531G>C n.71-14898C>G | |
| 9 | g.134835107G>T | CA375460669 | COL5A1 | c.5273G>T (p.Gly1758Val) c.531G>T n.71-14898C>A | |
| 9 | g.134835108C>A | CA467667157 | COL5A1 | c.5274C>A (p.Gly1758=) c.532C>A n.71-14899G>T | gnomAD v4 COSMIC |
| 9 | g.134835108C= | CA1883393008 | COL5A1 | c.5274C= (p.Gly1758=) c.532C= n.71-14899G= | |
| 9 | g.134835108C>G | CA467667158 | COL5A1 | c.5274C>G (p.Gly1758=) c.532C>G n.71-14899G>C | |
| 9 | g.134835108C>T | CA467667160 | COL5A1 | c.5274C>T (p.Gly1758=) c.532C>T n.71-14899G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835109A>C | CA375460672 | COL5A1 | c.5275A>C (p.Ser1759Arg) c.533A>C n.71-14900T>G | |
| 9 | g.134835109A>G | CA375460674 | COL5A1 | c.5275A>G (p.Ser1759Gly) c.533A>G n.71-14900T>C | |
| 9 | g.134835109A>T | CA375460675 | COL5A1 | c.5275A>T (p.Ser1759Cys) c.533A>T n.71-14900T>A | |
| 9 | g.134835110G>A | CA375460679 | COL5A1 | c.5276G>A (p.Ser1759Asn) c.534G>A n.71-14901C>T | |
| 9 | g.134835110G>C | CA375460681 | COL5A1 | c.5276G>C (p.Ser1759Thr) c.534G>C n.71-14901C>G | |
| 9 | g.134835110G>T | CA375460677 | COL5A1 | c.5276G>T (p.Ser1759Ile) c.534G>T n.71-14901C>A | |
| 9 | g.134835111C>A | CA375460682 | COL5A1 | c.5277C>A (p.Ser1759Arg) c.535C>A n.71-14902G>T | |
| 9 | g.134835111C>G | CA375460684 | COL5A1 | c.5277C>G (p.Ser1759Arg) c.535C>G n.71-14902G>C | |
| 9 | g.134835111C>T | CA467667170 | COL5A1 | c.5277C>T (p.Ser1759=) c.535C>T n.71-14902G>A | |
| 9 | g.134835112T>A | CA375460686 | COL5A1 | c.5278T>A (p.Tyr1760Asn) c.536T>A n.71-14903A>T | |
| 9 | g.134835112T>C | CA375460687 | COL5A1 | c.5278T>C (p.Tyr1760His) c.536T>C n.71-14903A>G | |
| 9 | g.134835112T>G | CA375460689 | COL5A1 | c.5278T>G (p.Tyr1760Asp) c.536T>G n.71-14903A>C | |
| 9 | g.134835112_134835115delinsTACG | CA1883393009 | COL5A1 | c.5278_5281delinsTACG (p.Tyr1760=) c.536_539delinsTACG n.71-14906_71-14903delinsCGTA | |
| 9 | g.134835113A= | CA1883393010 | COL5A1 | c.5279A= (p.Tyr1760=) c.537A= n.71-14904T= | |
| 9 | g.134835113A>C | CA375460695 | COL5A1 | c.5279A>C (p.Tyr1760Ser) c.537A>C n.71-14904T>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835113A>G | CA375460693 | COL5A1 | c.5279A>G (p.Tyr1760Cys) c.537A>G n.71-14904T>C | |
| 9 | g.134835113A>T | CA375460691 | COL5A1 | c.5279A>T (p.Tyr1760Phe) c.537A>T n.71-14904T>A | |
| 9 | g.134835115_134835117del | CA1129890367 | COL5A1 | c.5281_5283del (p.Asp1761del) c.539_541del n.71-14906_71-14904del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835114C>A | CA375460697 | COL5A1 | c.5280C>A (p.Tyr1760Ter) c.538C>A n.71-14905G>T | |
| 9 | g.134835114C= | CA1883393011 | COL5A1 | c.5280C= (p.Tyr1760=) c.538C= n.71-14905G= | |
| 9 | g.134835114C>G | CA375460699 | COL5A1 | c.5280C>G (p.Tyr1760Ter) c.538C>G n.71-14905G>C | |
| 9 | g.134835114C>T | CA5320680 | COL5A1 | c.5280C>T (p.Tyr1760=) c.538C>T n.71-14905G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835115G>A | CA5320681 | COL5A1 | c.5281G>A (p.Asp1761Asn) c.539G>A n.71-14906C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835115G>C | CA375460702 | COL5A1 | c.5281G>C (p.Asp1761His) c.539G>C n.71-14906C>G | gnomAD v4 |
| 9 | g.134835115G= | CA1883393012 | COL5A1 | c.5281G= (p.Asp1761=) c.539G= n.71-14906C= | |
| 9 | g.134835115G>T | CA375460704 | COL5A1 | c.5281G>T (p.Asp1761Tyr) c.539G>T n.71-14906C>A | COSMIC |
| 9 | g.134835116A>C | CA375460706 | COL5A1 | c.5282A>C (p.Asp1761Ala) c.540A>C n.71-14907T>G | |
| 9 | g.134835116A>G | CA375460708 | COL5A1 | c.5282A>G (p.Asp1761Gly) c.540A>G n.71-14907T>C | |
| 9 | g.134835116A>T | CA375460707 | COL5A1 | c.5282A>T (p.Asp1761Val) c.540A>T n.71-14907T>A | gnomAD v4 |
| 9 | g.134835117C>A | CA375460710 | COL5A1 | c.5283C>A (p.Asp1761Glu) c.541C>A n.71-14908G>T | gnomAD v4 |
| 9 | g.134835117C>G | CA375460711 | COL5A1 | c.5283C>G (p.Asp1761Glu) c.541C>G n.71-14908G>C | |
| 9 | g.134835117C>T | CA467667183 | COL5A1 | c.5283C>T (p.Asp1761=) c.541C>T n.71-14908G>A | |
| 9 | g.134835118A>C | CA375460712 | COL5A1 | c.5284A>C (p.Lys1762Gln) c.542A>C n.71-14909T>G | |
| 9 | g.134835118A>G | CA375460713 | COL5A1 | c.5284A>G (p.Lys1762Glu) c.542A>G n.71-14909T>C | gnomAD v4 |
| 9 | g.134835118A>T | CA375460714 | COL5A1 | c.5284A>T (p.Lys1762Ter) c.542A>T n.71-14909T>A | |
| 9 | g.134835119A= | CA1883393013 | COL5A1 | c.5285A= (p.Lys1762=) c.543A= n.71-14910T= | |
| 9 | g.134835119A>C | CA375460716 | COL5A1 | c.5285A>C (p.Lys1762Thr) c.543A>C n.71-14910T>G | |
| 9 | g.134835119A>G | CA5320682 | COL5A1 | c.5285A>G (p.Lys1762Arg) c.543A>G n.71-14910T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835119A>T | CA375460718 | COL5A1 | c.5285A>T (p.Lys1762Met) c.543A>T n.71-14910T>A | |
| 9 | g.134835120G>A | CA467667193 | COL5A1 | c.5286G>A (p.Lys1762=) c.544G>A n.71-14911C>T | |
| 9 | g.134835120G>C | CA375460720 | COL5A1 | c.5286G>C (p.Lys1762Asn) c.544G>C n.71-14911C>G | |
| 9 | g.134835120G>T | CA375460722 | COL5A1 | c.5286G>T (p.Lys1762Asn) c.544G>T n.71-14911C>A | |
| 9 | g.134835121del | CA2695211573 | COL5A1 | c.5287del (p.Ala1763ProfsTer?) c.545del n.71-14911del | |
| 9 | g.134835121G>A | CA375460724 | COL5A1 | c.5287G>A (p.Ala1763Thr) c.545G>A n.71-14912C>T | dbSNP gnomAD v4 |
| 9 | g.134835121G>C | CA375460726 | COL5A1 | c.5287G>C (p.Ala1763Pro) c.545G>C n.71-14912C>G | |
| 9 | g.134835121G= | CA1883393014 | COL5A1 | c.5287G= (p.Ala1763=) c.545G= n.71-14912C= | |
| 9 | g.134835121G>T | CA375460728 | COL5A1 | c.5287G>T (p.Ala1763Ser) c.545G>T n.71-14912C>A | |
| 9 | g.134835122C>A | CA375460732 | COL5A1 | c.5288C>A (p.Ala1763Asp) c.546C>A n.71-14913G>T | |
| 9 | g.134835122C= | CA1883393015 | COL5A1 | c.5288C= (p.Ala1763=) c.546C= n.71-14913G= | |
| 9 | g.134835122C>G | CA375460734 | COL5A1 | c.5288C>G (p.Ala1763Gly) c.546C>G n.71-14913G>C | |
| 9 | g.134835122C>T | CA375460730 | COL5A1 | c.5288C>T (p.Ala1763Val) c.546C>T n.71-14913G>A | ClinVar dbSNP gnomAD v2 |
| 9 | g.134835123C>A | CA467667209 | COL5A1 | c.5289C>A (p.Ala1763=) c.547C>A n.71-14914G>T | |
| 9 | g.134835123C= | CA1883393016 | COL5A1 | c.5289C= (p.Ala1763=) c.547C= n.71-14914G= | |
| 9 | g.134835123C>G | CA467667205 | COL5A1 | c.5289C>G (p.Ala1763=) c.547C>G n.71-14914G>C | |
| 9 | g.134835123C>T | CA467667207 | COL5A1 | c.5289C>T (p.Ala1763=) c.547C>T n.71-14914G>A | dbSNP gnomAD v4 |
| 9 | g.134835124C>A | CA375460736 | COL5A1 | c.5290C>A (p.Leu1764Ile) c.548C>A n.71-14915G>T | |
| 9 | g.134835124C>G | CA375460735 | COL5A1 | c.5290C>G (p.Leu1764Val) c.548C>G n.71-14915G>C | |
| 9 | g.134835124C>T | CA375460738 | COL5A1 | c.5290C>T (p.Leu1764Phe) c.548C>T n.71-14915G>A | |
| 9 | g.134835125T>A | CA375460740 | COL5A1 | c.5291T>A (p.Leu1764His) c.549T>A n.71-14916A>T | ClinVar dbSNP |
| 9 | g.134835125T>C | CA375460744 | COL5A1 | c.5291T>C (p.Leu1764Pro) c.549T>C n.71-14916A>G | |
| 9 | g.134835125T>G | CA375460742 | COL5A1 | c.5291T>G (p.Leu1764Arg) c.549T>G n.71-14916A>C | gnomAD v4 |
| 9 | g.134835125T= | CA1883393017 | COL5A1 | c.5291T= (p.Leu1764=) c.549T= n.71-14916A= | |
| 9 | g.134835126C>A | CA467667216 | COL5A1 | c.5292C>A (p.Leu1764=) c.550C>A n.71-14917G>T | |
| 9 | g.134835126C>G | CA467667218 | COL5A1 | c.5292C>G (p.Leu1764=) c.550C>G n.71-14917G>C | |
| 9 | g.134835126C>T | CA467667215 | COL5A1 | c.5292C>T (p.Leu1764=) c.550C>T n.71-14917G>A | |
| 9 | g.134835127dup | CA916083086 | COL5A1 | c.5293dup (p.Arg1765ProfsTer13) c.551dup n.71-14917dup | ClinVar dbSNP |
| 9 | g.134835127C>A | CA375460746 | COL5A1 | c.5293C>A (p.Arg1765Ser) c.551C>A n.71-14918G>T | |
| 9 | g.134835127C= | CA1883393018 | COL5A1 | c.5293C= (p.Arg1765=) c.551C= n.71-14918G= | |
| 9 | g.134835127C>G | CA375460749 | COL5A1 | c.5293C>G (p.Arg1765Gly) c.551C>G n.71-14918G>C | |
| 9 | g.134835127C>T | CA5320683 | COL5A1 | c.5293C>T (p.Arg1765Cys) c.551C>T n.71-14918G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835128G>A | CA5320684 | COL5A1 | c.5294G>A (p.Arg1765His) c.552G>A n.71-14919C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835128G>C | CA375460752 | COL5A1 | c.5294G>C (p.Arg1765Pro) c.552G>C n.71-14919C>G | |
| 9 | g.134835128G= | CA1883393019 | COL5A1 | c.5294G= (p.Arg1765=) c.552G= n.71-14919C= | |
| 9 | g.134835128G>T | CA375460754 | COL5A1 | c.5294G>T (p.Arg1765Leu) c.552G>T n.71-14919C>A | |
| 9 | g.134835128dup | CA2580617145 | COL5A1 | c.5294dup (p.Phe1766LeufsTer12) c.552dup n.71-14919dup | ClinVar |
| 9 | g.134835131_134835139del | CA2573053136 | COL5A1 | c.5297_5305del (p.Phe1766_Gly1768del) c.555_563del n.71-14927_71-14919del | ClinVar dbSNP |
| 9 | g.134835129C>A | CA467667225 | COL5A1 | c.5295C>A (p.Arg1765=) c.553C>A n.71-14920G>T | |
| 9 | g.134835129C= | CA1883393020 | COL5A1 | c.5295C= (p.Arg1765=) c.553C= n.71-14920G= | |
| 9 | g.134835129C>G | CA467667226 | COL5A1 | c.5295C>G (p.Arg1765=) c.553C>G n.71-14920G>C | |
| 9 | g.134835129C>T | CA467667227 | COL5A1 | c.5295C>T (p.Arg1765=) c.553C>T n.71-14920G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835130T>A | CA375460756 | COL5A1 | c.5296T>A (p.Phe1766Ile) c.554T>A n.71-14921A>T | |
| 9 | g.134835130T>C | CA375460758 | COL5A1 | c.5296T>C (p.Phe1766Leu) c.554T>C n.71-14921A>G | |
| 9 | g.134835130T>G | CA375460759 | COL5A1 | c.5296T>G (p.Phe1766Val) c.554T>G n.71-14921A>C | |
| 9 | g.134835131T>A | CA375460762 | COL5A1 | c.5297T>A (p.Phe1766Tyr) c.555T>A n.71-14922A>T | |
| 9 | g.134835131T>C | CA375460764 | COL5A1 | c.5297T>C (p.Phe1766Ser) c.555T>C n.71-14922A>G | |
| 9 | g.134835131T>G | CA375460765 | COL5A1 | c.5297T>G (p.Phe1766Cys) c.555T>G n.71-14922A>C | |
| 9 | g.134835131_134835132delinsTC | CA1883393021 | COL5A1 | c.5297_5298delinsTC (p.Phe1766=) c.555_556delinsTC n.71-14923_71-14922delinsGA | |
| 9 | g.134835132C>A | CA375460768 | COL5A1 | c.5298C>A (p.Phe1766Leu) c.556C>A n.71-14923G>T | |
| 9 | g.134835132C= | CA1883393022 | COL5A1 | c.5298C= (p.Phe1766=) c.556C= n.71-14923G= | |
| 9 | g.134835132C>G | CA375460770 | COL5A1 | c.5298C>G (p.Phe1766Leu) c.556C>G n.71-14923G>C | |
| 9 | g.134835132C>T | CA467667235 | COL5A1 | c.5298C>T (p.Phe1766=) c.556C>T n.71-14923G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835133del | CA658656060 | COL5A1 | c.5299del (p.Leu1767TrpfsTer?) c.557del n.71-14923del | ClinVar dbSNP |
| 9 | g.134835132_134835149del | CA2695211574 | COL5A1 | c.5298_5315del (p.Phe1766_Glu1772delinsLeu) c.556_573del n.71-14940_71-14923del | |
| 9 | g.134835133C>A | CA375460772 | COL5A1 | c.5299C>A (p.Leu1767Met) c.557C>A n.71-14924G>T | |
| 9 | g.134835133C>G | CA375460774 | COL5A1 | c.5299C>G (p.Leu1767Val) c.557C>G n.71-14924G>C | |
| 9 | g.134835133C>T | CA467667236 | COL5A1 | c.5299C>T (p.Leu1767=) c.557C>T n.71-14924G>A | ClinVar |
| 9 | g.134835134T>A | CA375460780 | COL5A1 | c.5300T>A (p.Leu1767Gln) c.558T>A n.71-14925A>T | |
| 9 | g.134835134T>C | CA375460778 | COL5A1 | c.5300T>C (p.Leu1767Pro) c.558T>C n.71-14925A>G | |
| 9 | g.134835134T>G | CA375460776 | COL5A1 | c.5300T>G (p.Leu1767Arg) c.558T>G n.71-14925A>C | |
| 9 | g.134835135G>A | CA467667238 | COL5A1 | c.5301G>A (p.Leu1767=) c.559G>A n.71-14926C>T | dbSNP gnomAD v4 |
| 9 | g.134835135G>C | CA467667240 | COL5A1 | c.5301G>C (p.Leu1767=) c.559G>C n.71-14926C>G | |
| 9 | g.134835135G= | CA1883393023 | COL5A1 | c.5301G= (p.Leu1767=) c.559G= n.71-14926C= | |
| 9 | g.134835135G>T | CA467667242 | COL5A1 | c.5301G>T (p.Leu1767=) c.559G>T n.71-14926C>A | |
| 9 | g.134835136G>A | CA375460782 | COL5A1 | c.5302G>A (p.Gly1768Ser) c.560G>A n.71-14927C>T | |
| 9 | g.134835136G>C | CA375460784 | COL5A1 | c.5302G>C (p.Gly1768Arg) c.560G>C n.71-14927C>G | |
| 9 | g.134835136G>T | CA375460786 | COL5A1 | c.5302G>T (p.Gly1768Cys) c.560G>T n.71-14927C>A | |
| 9 | g.134835137G>A | CA375460787 | COL5A1 | c.5303G>A (p.Gly1768Asp) c.561G>A n.71-14928C>T | ClinVar dbSNP |
| 9 | g.134835137G>C | CA375460788 | COL5A1 | c.5303G>C (p.Gly1768Ala) c.561G>C n.71-14928C>G | |
| 9 | g.134835137G= | CA1883393024 | COL5A1 | c.5303G= (p.Gly1768=) c.561G= n.71-14928C= | |
| 9 | g.134835137G>T | CA375460791 | COL5A1 | c.5303G>T (p.Gly1768Val) c.561G>T n.71-14928C>A | |
| 9 | g.134835138C>A | CA467667243 | COL5A1 | c.5304C>A (p.Gly1768=) c.562C>A n.71-14929G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.134835138C= | CA1883393025 | COL5A1 | c.5304C= (p.Gly1768=) c.562C= n.71-14929G= | |
| 9 | g.134835138C>G | CA467667244 | COL5A1 | c.5304C>G (p.Gly1768=) c.562C>G n.71-14929G>C | |
| 9 | g.134835138C>T | CA467667245 | COL5A1 | c.5304C>T (p.Gly1768=) c.562C>T n.71-14929G>A | dbSNP gnomAD v2 |
| 9 | g.134835139T>A | CA375460793 | COL5A1 | c.5305T>A (p.Ser1769Thr) c.563T>A n.71-14930A>T | |
| 9 | g.134835139T>C | CA375460795 | COL5A1 | c.5305T>C (p.Ser1769Pro) c.563T>C n.71-14930A>G | ClinVar dbSNP |
| 9 | g.134835139T>G | CA375460797 | COL5A1 | c.5305T>G (p.Ser1769Ala) c.563T>G n.71-14930A>C | |
| 9 | g.134835139T= | CA1883393026 | COL5A1 | c.5305T= (p.Ser1769=) c.563T= n.71-14930A= | |
| 9 | g.134835140C>A | CA375460798 | COL5A1 | c.5306C>A (p.Ser1769Tyr) c.564C>A n.71-14931G>T | |
| 9 | g.134835140C= | CA1883393027 | COL5A1 | c.5306C= (p.Ser1769=) c.564C= n.71-14931G= | |
| 9 | g.134835140C>G | CA375460799 | COL5A1 | c.5306C>G (p.Ser1769Cys) c.564C>G n.71-14931G>C | gnomAD v4 |
| 9 | g.134835140C>T | CA201113823 | COL5A1 | c.5306C>T (p.Ser1769Phe) c.564C>T n.71-14931G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835141C>A | CA467667247 | COL5A1 | c.5307C>A (p.Ser1769=) c.565C>A n.71-14932G>T | |
| 9 | g.134835141C= | CA1883393028 | COL5A1 | c.5307C= (p.Ser1769=) c.565C= n.71-14932G= | |
| 9 | g.134835141C>G | CA467667248 | COL5A1 | c.5307C>G (p.Ser1769=) c.565C>G n.71-14932G>C | |
| 9 | g.134835141C>T | CA5320685 | COL5A1 | c.5307C>T (p.Ser1769=) c.565C>T n.71-14932G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835142A>C | CA375460805 | COL5A1 | c.5308A>C (p.Asn1770His) c.566A>C n.71-14933T>G | |
| 9 | g.134835142A>G | CA375460807 | COL5A1 | c.5308A>G (p.Asn1770Asp) c.566A>G n.71-14933T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835142A>T | CA375460803 | COL5A1 | c.5308A>T (p.Asn1770Tyr) c.566A>T n.71-14933T>A | |
| 9 | g.134835143A>C | CA375460809 | COL5A1 | c.5309A>C (p.Asn1770Thr) c.567A>C n.71-14934T>G | |
| 9 | g.134835143A>G | CA375460811 | COL5A1 | c.5309A>G (p.Asn1770Ser) c.567A>G n.71-14934T>C | |
| 9 | g.134835143A>T | CA375460813 | COL5A1 | c.5309A>T (p.Asn1770Ile) c.567A>T n.71-14934T>A | |
| 9 | g.134835144C>A | CA375460815 | COL5A1 | c.5310C>A (p.Asn1770Lys) c.568C>A n.71-14935G>T | |
| 9 | g.134835144C= | CA1883393029 | COL5A1 | c.5310C= (p.Asn1770=) c.568C= n.71-14935G= | |
| 9 | g.134835144C>G | CA375460816 | COL5A1 | c.5310C>G (p.Asn1770Lys) c.568C>G n.71-14935G>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835144C>T | CA5320686 | COL5A1 | c.5310C>T (p.Asn1770=) c.568C>T n.71-14935G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835145G>A | CA16618791 | COL5A1 | c.5311G>A (p.Asp1771Asn) c.569G>A n.71-14936C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134835145G>C | CA375460818 | COL5A1 | c.5311G>C (p.Asp1771His) c.569G>C n.71-14936C>G | |
| 9 | g.134835145G= | CA1883393030 | COL5A1 | c.5311G= (p.Asp1771=) c.569G= n.71-14936C= | |
| 9 | g.134835145G>T | CA375460820 | COL5A1 | c.5311G>T (p.Asp1771Tyr) c.569G>T n.71-14936C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835146A>C | CA375460821 | COL5A1 | c.5312A>C (p.Asp1771Ala) c.570A>C n.71-14937T>G | |
| 9 | g.134835146A>G | CA375460822 | COL5A1 | c.5312A>G (p.Asp1771Gly) c.570A>G n.71-14937T>C | |
| 9 | g.134835146A>T | CA375460825 | COL5A1 | c.5312A>T (p.Asp1771Val) c.570A>T n.71-14937T>A | |
| 9 | g.134835147C>A | CA375460828 | COL5A1 | c.5313C>A (p.Asp1771Glu) c.571C>A n.71-14938G>T | |
| 9 | g.134835147C= | CA1883393031 | COL5A1 | c.5313C= (p.Asp1771=) c.571C= n.71-14938G= | |
| 9 | g.134835147C>G | CA5320687 | COL5A1 | c.5313C>G (p.Asp1771Glu) c.571C>G n.71-14938G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835147C>T | CA16605684 | COL5A1 | c.5313C>T (p.Asp1771=) c.571C>T n.71-14938G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.134835148G>A | CA375460830 | COL5A1 | c.5314G>A (p.Glu1772Lys) c.572G>A n.71-14939C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.134835148G>C | CA5320688 | COL5A1 | c.5314G>C (p.Glu1772Gln) c.572G>C n.71-14939C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.134835148G= | CA1883393032 | COL5A1 | c.5314G= (p.Glu1772=) c.572G= n.71-14939C= | |
| 9 | g.134835148G>T | CA375460832 | COL5A1 | c.5314G>T (p.Glu1772Ter) c.572G>T n.71-14939C>A | |
| 9 | g.134835151_134835153del | CA2692461732 | COL5A1 | c.5317_5319del (p.Glu1773del) c.575_577del n.71-14941_71-14939del | gnomAD v4 |
| 9 | g.134835149A= | CA1883393034 | COL5A1 | c.5315A= (p.Glu1772=) c.573A= n.71-14940T= | |
| 9 | g.134835149A>C | CA375460835 | COL5A1 | c.5315A>C (p.Glu1772Ala) c.573A>C n.71-14940T>G | |
| 9 | g.134835149A>G | CA375460836 | COL5A1 | c.5315A>G (p.Glu1772Gly) c.573A>G n.71-14940T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.134835149A>T | CA375460838 | COL5A1 | c.5315A>T (p.Glu1772Val) c.573A>T n.71-14940T>A | |
| 9 | g.134835149_134835150delinsAG | CA1883393033 | COL5A1 | c.5315_5316delinsAG (p.Glu1772=) c.573_574delinsAG n.71-14941_71-14940delinsCT | |
| 9 | g.134835150G>A | CA467667251 | COL5A1 | c.5316G>A (p.Glu1772=) c.574G>A n.71-14941C>T | |
| 9 | g.134835150G>C | CA375460840 | COL5A1 | c.5316G>C (p.Glu1772Asp) c.574G>C n.71-14941C>G | gnomAD v4 |
| 9 | g.134835150G>T | CA375460841 | COL5A1 | c.5316G>T (p.Glu1772Asp) c.574G>T n.71-14941C>A | |
| 9 | g.134835151del | CA658797360 | COL5A1 | c.5317del (p.Glu1773ArgfsTer?) c.575del n.71-14941del | ClinVar dbSNP |
| 9 | g.134835151G>A | CA375460843 | COL5A1 | c.5317G>A (p.Glu1773Lys) c.575G>A n.71-14942C>T | COSMIC |
| 9 | g.134835151G>C | CA375460844 | COL5A1 | c.5317G>C (p.Glu1773Gln) c.575G>C n.71-14942C>G | |
| 9 | g.134835151G>T | CA375460846 | COL5A1 | c.5317G>T (p.Glu1773Ter) c.575G>T n.71-14942C>A | |
| 9 | g.134835153_134835154dup | CA2697558182 | COL5A1 | c.5319_5320dup (p.Met1774ArgfsTer?) c.577_578dup n.71-14943_71-14942dup | ClinVar |
| 9 | g.134835152A>C | CA375460850 | COL5A1 | c.5318A>C (p.Glu1773Ala) c.576A>C n.71-14943T>G | |
| 9 | g.134835152A>G | CA375460849 | COL5A1 | c.5318A>G (p.Glu1773Gly) c.576A>G n.71-14943T>C | ClinVar |
| 9 | g.134835152A>T | CA375460847 | COL5A1 | c.5318A>T (p.Glu1773Val) c.576A>T n.71-14943T>A | |
| 9 | g.134835153G>A | CA467667252 | COL5A1 | c.5319G>A (p.Glu1773=) c.577G>A n.71-14944C>T | |
| 9 | g.134835153G>C | CA375460853 | COL5A1 | c.5319G>C (p.Glu1773Asp) c.577G>C n.71-14944C>G | |
| 9 | g.134835153G>T | CA375460854 | COL5A1 | c.5319G>T (p.Glu1773Asp) c.577G>T n.71-14944C>A | |
| 9 | g.134835154A= | CA1883393035 | COL5A1 | c.5320A= (p.Met1774=) c.578A= n.71-14945T= | |
| 9 | g.134835154A>C | CA375460856 | COL5A1 | c.5320A>C (p.Met1774Leu) c.578A>C n.71-14945T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.134835154A>G | CA375460858 | COL5A1 | c.5320A>G (p.Met1774Val) c.578A>G n.71-14945T>C | ClinVar |
| 9 | g.134835154A>T | CA375460859 | COL5A1 | c.5320A>T (p.Met1774Leu) c.578A>T n.71-14945T>A | |
| 9 | g.134835154_134835155del | CA2692461733 | COL5A1 | c.5320_5321del (p.Met1774ValfsTer3) c.578_579del n.71-14946_71-14945del | gnomAD v4 |