Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237380939T>A | CA351215473 | COL6A3 | c.1255A>T (p.Arg419Trp) c.1873A>T (p.Arg625Trp) c.652A>T (p.Arg218Trp) c.92-3595A>T (n.92-3595A>T) | |
2 | g.237380939T>C | CA351215475 | COL6A3 | c.1255A>G (p.Arg419Gly) c.1873A>G (p.Arg625Gly) c.652A>G (p.Arg218Gly) c.92-3595A>G (n.92-3595A>G) | |
2 | g.237380939T>G | CA431674668 | COL6A3 | c.1255A>C (p.Arg419=) c.1873A>C (p.Arg625=) c.652A>C (p.Arg218=) c.92-3595A>C (n.92-3595A>C) | |
2 | g.237380940G>A | CA431674669 | COL6A3 | c.1254C>T (p.Leu418=) c.1872C>T (p.Leu624=) c.651C>T (p.Leu217=) c.92-3596C>T (n.92-3596C>T) | gnomAD v4 |
2 | g.237380940G>C | CA431674670 | COL6A3 | c.1254C>G (p.Leu418=) c.1872C>G (p.Leu624=) c.651C>G (p.Leu217=) c.92-3596C>G (n.92-3596C>G) | gnomAD v4 |
2 | g.237380940G= | CA1337627194 | COL6A3 | c.1254C= (p.Leu418=) c.1872C= (p.Leu624=) c.651C= (p.Leu217=) c.92-3596C= (n.92-3596C=) | |
2 | g.237380940G>T | CA10606233 | COL6A3 | c.1254C>A (p.Leu418=) c.1872C>A (p.Leu624=) c.651C>A (p.Leu217=) c.92-3596C>A (n.92-3596C>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.237380941A>C | CA351215477 | COL6A3 | c.1253T>G (p.Leu418Arg) c.1871T>G (p.Leu624Arg) c.650T>G (p.Leu217Arg) c.92-3597T>G (n.92-3597T>G) | |
2 | g.237380941A>G | CA351215479 | COL6A3 | c.1253T>C (p.Leu418Pro) c.1871T>C (p.Leu624Pro) c.650T>C (p.Leu217Pro) c.92-3597T>C (n.92-3597T>C) | |
2 | g.237380941A>T | CA351215481 | COL6A3 | c.1253T>A (p.Leu418His) c.1871T>A (p.Leu624His) c.650T>A (p.Leu217His) c.92-3597T>A (n.92-3597T>A) | |
2 | g.237380942G>A | CA351215483 | COL6A3 | c.1252C>T (p.Leu418Phe) c.1870C>T (p.Leu624Phe) c.649C>T (p.Leu217Phe) c.92-3598C>T (n.92-3598C>T) | COSMIC COSMIC |
2 | g.237380942G>C | CA351215485 | COL6A3 | c.1252C>G (p.Leu418Val) c.1870C>G (p.Leu624Val) c.649C>G (p.Leu217Val) c.92-3598C>G (n.92-3598C>G) | |
2 | g.237380942G>T | CA351215487 | COL6A3 | c.1252C>A (p.Leu418Ile) c.1870C>A (p.Leu624Ile) c.649C>A (p.Leu217Ile) c.92-3598C>A (n.92-3598C>A) | |
2 | g.237380943A>C | CA431674671 | COL6A3 | c.1251T>G (p.Pro417=) c.1869T>G (p.Pro623=) c.648T>G (p.Pro216=) c.92-3599T>G (n.92-3599T>G) | |
2 | g.237380943A>G | CA431674672 | COL6A3 | c.1251T>C (p.Pro417=) c.1869T>C (p.Pro623=) c.648T>C (p.Pro216=) c.92-3599T>C (n.92-3599T>C) | |
2 | g.237380943A>T | CA431674674 | COL6A3 | c.1251T>A (p.Pro417=) c.1869T>A (p.Pro623=) c.648T>A (p.Pro216=) c.92-3599T>A (n.92-3599T>A) | |
2 | g.237380944G>A | CA351215490 | COL6A3 | c.1250C>T (p.Pro417Leu) c.1868C>T (p.Pro623Leu) c.647C>T (p.Pro216Leu) c.92-3600C>T (n.92-3600C>T) | |
2 | g.237380944G>C | CA351215492 | COL6A3 | c.1250C>G (p.Pro417Arg) c.1868C>G (p.Pro623Arg) c.647C>G (p.Pro216Arg) c.92-3600C>G (n.92-3600C>G) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.237380944G>T | CA351215493 | COL6A3 | c.1250C>A (p.Pro417His) c.1868C>A (p.Pro623His) c.647C>A (p.Pro216His) c.92-3600C>A (n.92-3600C>A) | |
2 | g.237380945G>A | CA2189537 | COL6A3 | c.1249C>T (p.Pro417Ser) c.1867C>T (p.Pro623Ser) c.646C>T (p.Pro216Ser) c.92-3601C>T (n.92-3601C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380945G>C | CA351215499 | COL6A3 | c.1249C>G (p.Pro417Ala) c.1867C>G (p.Pro623Ala) c.646C>G (p.Pro216Ala) c.92-3601C>G (n.92-3601C>G) | |
2 | g.237380945G= | CA1337627195 | COL6A3 | c.1249C= (p.Pro417=) c.1867C= (p.Pro623=) c.646C= (p.Pro216=) c.92-3601C= (n.92-3601C=) | |
2 | g.237380945G>T | CA351215497 | COL6A3 | c.1249C>A (p.Pro417Thr) c.1867C>A (p.Pro623Thr) c.646C>A (p.Pro216Thr) c.92-3601C>A (n.92-3601C>A) | |
2 | g.237380946T>A | CA431674675 | COL6A3 | c.1248A>T (p.Ala416=) c.1866A>T (p.Ala622=) c.645A>T (p.Ala215=) c.92-3602A>T (n.92-3602A>T) | |
2 | g.237380946T>C | CA2189538 | COL6A3 | c.1248A>G (p.Ala416=) c.1866A>G (p.Ala622=) c.645A>G (p.Ala215=) c.92-3602A>G (n.92-3602A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380946T>G | CA431674677 | COL6A3 | c.1248A>C (p.Ala416=) c.1866A>C (p.Ala622=) c.645A>C (p.Ala215=) c.92-3602A>C (n.92-3602A>C) | |
2 | g.237380946T= | CA1337627196 | COL6A3 | c.1248A= (p.Ala416=) c.1866A= (p.Ala622=) c.645A= (p.Ala215=) c.92-3602A= (n.92-3602A=) | |
2 | g.237380947G>A | CA351215502 | COL6A3 | c.1247C>T (p.Ala416Val) c.1865C>T (p.Ala622Val) c.644C>T (p.Ala215Val) c.92-3603C>T (n.92-3603C>T) | COSMIC |
2 | g.237380947G>C | CA351215503 | COL6A3 | c.1247C>G (p.Ala416Gly) c.1865C>G (p.Ala622Gly) c.644C>G (p.Ala215Gly) c.92-3603C>G (n.92-3603C>G) | |
2 | g.237380947G= | CA1337627197 | COL6A3 | c.1247C= (p.Ala416=) c.1865C= (p.Ala622=) c.644C= (p.Ala215=) c.92-3603C= (n.92-3603C=) | |
2 | g.237380947G>T | CA351215504 | COL6A3 | c.1247C>A (p.Ala416Glu) c.1865C>A (p.Ala622Glu) c.644C>A (p.Ala215Glu) c.92-3603C>A (n.92-3603C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380952_237380959del | CA2577290182 | COL6A3 | c.1240_1247del (p.Leu414ThrfsTer10) c.1858_1865del (p.Leu620ThrfsTer10) c.637_644del (p.Leu213ThrfsTer10) c.92-3610_92-3603del (n.92-3610_92-3603del) | |
2 | g.237380948C>A | CA351215505 | COL6A3 | c.1246G>T (p.Ala416Ser) c.1864G>T (p.Ala622Ser) c.643G>T (p.Ala215Ser) c.92-3604G>T (n.92-3604G>T) | |
2 | g.237380948C= | CA1337627198 | COL6A3 | c.1246G= (p.Ala416=) c.1864G= (p.Ala622=) c.643G= (p.Ala215=) c.92-3604G= (n.92-3604G=) | |
2 | g.237380948C>G | CA351215506 | COL6A3 | c.1246G>C (p.Ala416Pro) c.1864G>C (p.Ala622Pro) c.643G>C (p.Ala215Pro) c.92-3604G>C (n.92-3604G>C) | |
2 | g.237380948C>T | CA2189539 | COL6A3 | c.1246G>A (p.Ala416Thr) c.1864G>A (p.Ala622Thr) c.643G>A (p.Ala215Thr) c.92-3604G>A (n.92-3604G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380949C>A | CA431674682 | COL6A3 | c.1245G>T (p.Leu415=) c.1863G>T (p.Leu621=) c.642G>T (p.Leu214=) c.92-3605G>T (n.92-3605G>T) | |
2 | g.237380949C>G | CA431674679 | COL6A3 | c.1245G>C (p.Leu415=) c.1863G>C (p.Leu621=) c.642G>C (p.Leu214=) c.92-3605G>C (n.92-3605G>C) | |
2 | g.237380949C>T | CA431674680 | COL6A3 | c.1245G>A (p.Leu415=) c.1863G>A (p.Leu621=) c.642G>A (p.Leu214=) c.92-3605G>A (n.92-3605G>A) | |
2 | g.237380949_237380950insCG | CA2561546323 | COL6A3 | c.1244_1245insCG (p.Ala416GlyfsTer?) c.1862_1863insCG (p.Ala622GlyfsTer?) c.641_642insCG (p.Ala215GlyfsTer?) c.92-3606_92-3605insCG (n.92-3606_92-3605insCG) | |
2 | g.237380950A>C | CA351215507 | COL6A3 | c.1244T>G (p.Leu415Arg) c.1862T>G (p.Leu621Arg) c.641T>G (p.Leu214Arg) c.92-3606T>G (n.92-3606T>G) | |
2 | g.237380950A>G | CA351215508 | COL6A3 | c.1244T>C (p.Leu415Pro) c.1862T>C (p.Leu621Pro) c.641T>C (p.Leu214Pro) c.92-3606T>C (n.92-3606T>C) | |
2 | g.237380950A>T | CA351215509 | COL6A3 | c.1244T>A (p.Leu415Gln) c.1862T>A (p.Leu621Gln) c.641T>A (p.Leu214Gln) c.92-3606T>A (n.92-3606T>A) | |
2 | g.237380951G>A | CA2189540 | COL6A3 | c.1243C>T (p.Leu415=) c.1861C>T (p.Leu621=) c.640C>T (p.Leu214=) c.92-3607C>T (n.92-3607C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380951G>C | CA351215511 | COL6A3 | c.1243C>G (p.Leu415Val) c.1861C>G (p.Leu621Val) c.640C>G (p.Leu214Val) c.92-3607C>G (n.92-3607C>G) | |
2 | g.237380951G= | CA1337627199 | COL6A3 | c.1243C= (p.Leu415=) c.1861C= (p.Leu621=) c.640C= (p.Leu214=) c.92-3607C= (n.92-3607C=) | |
2 | g.237380951G>T | CA351215510 | COL6A3 | c.1243C>A (p.Leu415Met) c.1861C>A (p.Leu621Met) c.640C>A (p.Leu214Met) c.92-3607C>A (n.92-3607C>A) | |
2 | g.237380952C>A | CA351215512 | COL6A3 | c.1242G>T (p.Leu414Phe) c.1860G>T (p.Leu620Phe) c.639G>T (p.Leu213Phe) c.92-3608G>T (n.92-3608G>T) | gnomAD v4 |
2 | g.237380952C>G | CA351215513 | COL6A3 | c.1242G>C (p.Leu414Phe) c.1860G>C (p.Leu620Phe) c.639G>C (p.Leu213Phe) c.92-3608G>C (n.92-3608G>C) | |
2 | g.237380952C>T | CA431674683 | COL6A3 | c.1242G>A (p.Leu414=) c.1860G>A (p.Leu620=) c.639G>A (p.Leu213=) c.92-3608G>A (n.92-3608G>A) | |
2 | g.237380953A>C | CA351215514 | COL6A3 | c.1241T>G (p.Leu414Trp) c.1859T>G (p.Leu620Trp) c.638T>G (p.Leu213Trp) c.92-3609T>G (n.92-3609T>G) | |
2 | g.237380953A>G | CA351215515 | COL6A3 | c.1241T>C (p.Leu414Ser) c.1859T>C (p.Leu620Ser) c.638T>C (p.Leu213Ser) c.92-3609T>C (n.92-3609T>C) | |
2 | g.237380953A>T | CA351215516 | COL6A3 | c.1241T>A (p.Leu414Ter) c.1859T>A (p.Leu620Ter) c.638T>A (p.Leu213Ter) c.92-3609T>A (n.92-3609T>A) | |
2 | g.237380954A>C | CA351215517 | COL6A3 | c.1240T>G (p.Leu414Val) c.1858T>G (p.Leu620Val) c.637T>G (p.Leu213Val) c.92-3610T>G (n.92-3610T>G) | |
2 | g.237380954A>G | CA431674685 | COL6A3 | c.1240T>C (p.Leu414=) c.1858T>C (p.Leu620=) c.637T>C (p.Leu213=) c.92-3610T>C (n.92-3610T>C) | |
2 | g.237380954A>T | CA351215518 | COL6A3 | c.1240T>A (p.Leu414Met) c.1858T>A (p.Leu620Met) c.637T>A (p.Leu213Met) c.92-3610T>A (n.92-3610T>A) | |
2 | g.237380955G>A | CA2189541 | COL6A3 | c.1239C>T (p.Gly413=) c.1857C>T (p.Gly619=) c.636C>T (p.Gly212=) c.92-3611C>T (n.92-3611C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380955G>C | CA431674686 | COL6A3 | c.1239C>G (p.Gly413=) c.1857C>G (p.Gly619=) c.636C>G (p.Gly212=) c.92-3611C>G (n.92-3611C>G) | |
2 | g.237380955G= | CA1337627200 | COL6A3 | c.1239C= (p.Gly413=) c.1857C= (p.Gly619=) c.636C= (p.Gly212=) c.92-3611C= (n.92-3611C=) | |
2 | g.237380955G>T | CA431674687 | COL6A3 | c.1239C>A (p.Gly413=) c.1857C>A (p.Gly619=) c.636C>A (p.Gly212=) c.92-3611C>A (n.92-3611C>A) | |
2 | g.237380956C>A | CA351215519 | COL6A3 | c.1238G>T (p.Gly413Val) c.1856G>T (p.Gly619Val) c.635G>T (p.Gly212Val) c.92-3612G>T (n.92-3612G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380956C= | CA1337627201 | COL6A3 | c.1238G= (p.Gly413=) c.1856G= (p.Gly619=) c.635G= (p.Gly212=) c.92-3612G= (n.92-3612G=) | |
2 | g.237380956C>G | CA351215520 | COL6A3 | c.1238G>C (p.Gly413Ala) c.1856G>C (p.Gly619Ala) c.635G>C (p.Gly212Ala) c.92-3612G>C (n.92-3612G>C) | dbSNP gnomAD v4 |
2 | g.237380956C>T | CA351215521 | COL6A3 | c.1238G>A (p.Gly413Asp) c.1856G>A (p.Gly619Asp) c.635G>A (p.Gly212Asp) c.92-3612G>A (n.92-3612G>A) | |
2 | g.237380957del | CA2663799120 | COL6A3 | c.1238del (p.Gly413AlafsTer?) c.1856del (p.Gly619AlafsTer?) c.635del (p.Gly212AlafsTer?) c.92-3612del (n.92-3612del) | gnomAD v4 |
2 | g.237380957C>A | CA351215522 | COL6A3 | c.1237G>T (p.Gly413Cys) c.1855G>T (p.Gly619Cys) c.634G>T (p.Gly212Cys) c.92-3613G>T (n.92-3613G>T) | |
2 | g.237380957C>G | CA351215523 | COL6A3 | c.1237G>C (p.Gly413Arg) c.1855G>C (p.Gly619Arg) c.634G>C (p.Gly212Arg) c.92-3613G>C (n.92-3613G>C) | |
2 | g.237380957C>T | CA351215524 | COL6A3 | c.1237G>A (p.Gly413Ser) c.1855G>A (p.Gly619Ser) c.634G>A (p.Gly212Ser) c.92-3613G>A (n.92-3613G>A) | |
2 | g.237380958A>C | CA431674688 | COL6A3 | c.1236T>G (p.Pro412=) c.1854T>G (p.Pro618=) c.633T>G (p.Pro211=) c.92-3614T>G (n.92-3614T>G) | |
2 | g.237380958A>G | CA431674690 | COL6A3 | c.1236T>C (p.Pro412=) c.1854T>C (p.Pro618=) c.633T>C (p.Pro211=) c.92-3614T>C (n.92-3614T>C) | |
2 | g.237380958A>T | CA431674689 | COL6A3 | c.1236T>A (p.Pro412=) c.1854T>A (p.Pro618=) c.633T>A (p.Pro211=) c.92-3614T>A (n.92-3614T>A) | |
2 | g.237380959G>A | CA351215525 | COL6A3 | c.1235C>T (p.Pro412Leu) c.1853C>T (p.Pro618Leu) c.632C>T (p.Pro211Leu) c.92-3615C>T (n.92-3615C>T) | |
2 | g.237380959G>C | CA351215527 | COL6A3 | c.1235C>G (p.Pro412Arg) c.1853C>G (p.Pro618Arg) c.632C>G (p.Pro211Arg) c.92-3615C>G (n.92-3615C>G) | |
2 | g.237380959G>T | CA351215526 | COL6A3 | c.1235C>A (p.Pro412His) c.1853C>A (p.Pro618His) c.632C>A (p.Pro211His) c.92-3615C>A (n.92-3615C>A) | |
2 | g.237380960del | CA2663799121 | COL6A3 | c.1235del (p.Pro412LeufsTer?) c.1853del (p.Pro618LeufsTer?) c.632del (p.Pro211LeufsTer?) c.92-3615del (n.92-3615del) | gnomAD v4 |
2 | g.237380960G>A | CA67828100 | COL6A3 | c.1234C>T (p.Pro412Ser) c.1852C>T (p.Pro618Ser) c.631C>T (p.Pro211Ser) c.92-3616C>T (n.92-3616C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.237380960G>C | CA351215528 | COL6A3 | c.1234C>G (p.Pro412Ala) c.1852C>G (p.Pro618Ala) c.631C>G (p.Pro211Ala) c.92-3616C>G (n.92-3616C>G) | |
2 | g.237380960G= | CA1337627202 | COL6A3 | c.1234C= (p.Pro412=) c.1852C= (p.Pro618=) c.631C= (p.Pro211=) c.92-3616C= (n.92-3616C=) | |
2 | g.237380960G>T | CA351215530 | COL6A3 | c.1234C>A (p.Pro412Thr) c.1852C>A (p.Pro618Thr) c.631C>A (p.Pro211Thr) c.92-3616C>A (n.92-3616C>A) | |
2 | g.237380961C>A | CA431674693 | COL6A3 | c.1233G>T (p.Leu411=) c.1851G>T (p.Leu617=) c.630G>T (p.Leu210=) c.92-3617G>T (n.92-3617G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380961C= | CA1337627203 | COL6A3 | c.1233G= (p.Leu411=) c.1851G= (p.Leu617=) c.630G= (p.Leu210=) c.92-3617G= (n.92-3617G=) | |
2 | g.237380961C>G | CA431674691 | COL6A3 | c.1233G>C (p.Leu411=) c.1851G>C (p.Leu617=) c.630G>C (p.Leu210=) c.92-3617G>C (n.92-3617G>C) | |
2 | g.237380961C>T | CA431674692 | COL6A3 | c.1233G>A (p.Leu411=) c.1851G>A (p.Leu617=) c.630G>A (p.Leu210=) c.92-3617G>A (n.92-3617G>A) | COSMIC COSMIC |
2 | g.237380962A= | CA1337627204 | COL6A3 | c.1232T= (p.Leu411=) c.1850T= (p.Leu617=) c.629T= (p.Leu210=) c.92-3618T= (n.92-3618T=) | |
2 | g.237380962A>C | CA351215533 | COL6A3 | c.1232T>G (p.Leu411Arg) c.1850T>G (p.Leu617Arg) c.629T>G (p.Leu210Arg) c.92-3618T>G (n.92-3618T>G) | |
2 | g.237380962A>G | CA351215534 | COL6A3 | c.1232T>C (p.Leu411Pro) c.1850T>C (p.Leu617Pro) c.629T>C (p.Leu210Pro) c.92-3618T>C (n.92-3618T>C) | |
2 | g.237380962A>T | CA351215536 | COL6A3 | c.1232T>A (p.Leu411Gln) c.1850T>A (p.Leu617Gln) c.629T>A (p.Leu210Gln) c.92-3618T>A (n.92-3618T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380963G>A | CA2189542 | COL6A3 | c.1231C>T (p.Leu411=) c.1849C>T (p.Leu617=) c.628C>T (p.Leu210=) c.92-3619C>T (n.92-3619C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380963G>C | CA351215540 | COL6A3 | c.1231C>G (p.Leu411Val) c.1849C>G (p.Leu617Val) c.628C>G (p.Leu210Val) c.92-3619C>G (n.92-3619C>G) | |
2 | g.237380963G= | CA1337627205 | COL6A3 | c.1231C= (p.Leu411=) c.1849C= (p.Leu617=) c.628C= (p.Leu210=) c.92-3619C= (n.92-3619C=) | |
2 | g.237380963G>T | CA351215542 | COL6A3 | c.1231C>A (p.Leu411Met) c.1849C>A (p.Leu617Met) c.628C>A (p.Leu210Met) c.92-3619C>A (n.92-3619C>A) | |
2 | g.237380964C>A | CA351215545 | COL6A3 | c.1230G>T (p.Met410Ile) c.1848G>T (p.Met616Ile) c.627G>T (p.Met209Ile) c.92-3620G>T (n.92-3620G>T) | |
2 | g.237380964C= | CA1337627206 | COL6A3 | c.1230G= (p.Met410=) c.1848G= (p.Met616=) c.627G= (p.Met209=) c.92-3620G= (n.92-3620G=) | |
2 | g.237380964C>G | CA351215548 | COL6A3 | c.1230G>C (p.Met410Ile) c.1848G>C (p.Met616Ile) c.627G>C (p.Met209Ile) c.92-3620G>C (n.92-3620G>C) | |
2 | g.237380964C>T | CA351215550 | COL6A3 | c.1230G>A (p.Met410Ile) c.1848G>A (p.Met616Ile) c.627G>A (p.Met209Ile) c.92-3620G>A (n.92-3620G>A) | dbSNP gnomAD v4 |
2 | g.237380965A>C | CA351215554 | COL6A3 | c.1229T>G (p.Met410Arg) c.1847T>G (p.Met616Arg) c.626T>G (p.Met209Arg) c.92-3621T>G (n.92-3621T>G) | |
2 | g.237380965A>G | CA351215560 | COL6A3 | c.1229T>C (p.Met410Thr) c.1847T>C (p.Met616Thr) c.626T>C (p.Met209Thr) c.92-3621T>C (n.92-3621T>C) | |
2 | g.237380965A>T | CA351215556 | COL6A3 | c.1229T>A (p.Met410Lys) c.1847T>A (p.Met616Lys) c.626T>A (p.Met209Lys) c.92-3621T>A (n.92-3621T>A) | |
2 | g.237380966T>A | CA351215562 | COL6A3 | c.1228A>T (p.Met410Leu) c.1846A>T (p.Met616Leu) c.625A>T (p.Met209Leu) c.92-3622A>T (n.92-3622A>T) | gnomAD v4 |
2 | g.237380966T>C | CA10606203 | COL6A3 | c.1228A>G (p.Met410Val) c.1846A>G (p.Met616Val) c.625A>G (p.Met209Val) c.92-3622A>G (n.92-3622A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380966T>G | CA351215565 | COL6A3 | c.1228A>C (p.Met410Leu) c.1846A>C (p.Met616Leu) c.625A>C (p.Met209Leu) c.92-3622A>C (n.92-3622A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237380966T= | CA1337627207 | COL6A3 | c.1228A= (p.Met410=) c.1846A= (p.Met616=) c.625A= (p.Met209=) c.92-3622A= (n.92-3622A=) | |
2 | g.237380967G>A | CA431674694 | COL6A3 | c.1227C>T (p.Gly409=) c.1845C>T (p.Gly615=) c.624C>T (p.Gly208=) c.92-3623C>T (n.92-3623C>T) | |
2 | g.237380967G>C | CA431674695 | COL6A3 | c.1227C>G (p.Gly409=) c.1845C>G (p.Gly615=) c.624C>G (p.Gly208=) c.92-3623C>G (n.92-3623C>G) | |
2 | g.237380967G>T | CA431674696 | COL6A3 | c.1227C>A (p.Gly409=) c.1845C>A (p.Gly615=) c.624C>A (p.Gly208=) c.92-3623C>A (n.92-3623C>A) | gnomAD v4 |
2 | g.237380968C>A | CA351215567 | COL6A3 | c.1226G>T (p.Gly409Val) c.1844G>T (p.Gly615Val) c.623G>T (p.Gly208Val) c.92-3624G>T (n.92-3624G>T) | gnomAD v4 |
2 | g.237380968C= | CA1337627208 | COL6A3 | c.1226G= (p.Gly409=) c.1844G= (p.Gly615=) c.623G= (p.Gly208=) c.92-3624G= (n.92-3624G=) | |
2 | g.237380968C>G | CA2189543 | COL6A3 | c.1226G>C (p.Gly409Ala) c.1844G>C (p.Gly615Ala) c.623G>C (p.Gly208Ala) c.92-3624G>C (n.92-3624G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380968C>T | CA351215572 | COL6A3 | c.1226G>A (p.Gly409Asp) c.1844G>A (p.Gly615Asp) c.623G>A (p.Gly208Asp) c.92-3624G>A (n.92-3624G>A) | dbSNP gnomAD v4 |
2 | g.237380969C>A | CA351215576 | COL6A3 | c.1225G>T (p.Gly409Cys) c.1843G>T (p.Gly615Cys) c.622G>T (p.Gly208Cys) c.92-3625G>T (n.92-3625G>T) | COSMIC COSMIC |
2 | g.237380969C>G | CA351215578 | COL6A3 | c.1225G>C (p.Gly409Arg) c.1843G>C (p.Gly615Arg) c.622G>C (p.Gly208Arg) c.92-3625G>C (n.92-3625G>C) | |
2 | g.237380969C>T | CA351215581 | COL6A3 | c.1225G>A (p.Gly409Ser) c.1843G>A (p.Gly615Ser) c.622G>A (p.Gly208Ser) c.92-3625G>A (n.92-3625G>A) | |
2 | g.237380970T>A | CA351215599 | COL6A3 | c.1224A>T (p.Gln408His) c.1842A>T (p.Gln614His) c.621A>T (p.Gln207His) c.92-3626A>T (n.92-3626A>T) | |
2 | g.237380970T>C | CA431674697 | COL6A3 | c.1224A>G (p.Gln408=) c.1842A>G (p.Gln614=) c.621A>G (p.Gln207=) c.92-3626A>G (n.92-3626A>G) | dbSNP |
2 | g.237380970T>G | CA351215584 | COL6A3 | c.1224A>C (p.Gln408His) c.1842A>C (p.Gln614His) c.621A>C (p.Gln207His) c.92-3626A>C (n.92-3626A>C) | |
2 | g.237380971T>A | CA351215603 | COL6A3 | c.1223A>T (p.Gln408Leu) c.1841A>T (p.Gln614Leu) c.620A>T (p.Gln207Leu) c.92-3627A>T (n.92-3627A>T) | |
2 | g.237380971T>C | CA351215606 | COL6A3 | c.1223A>G (p.Gln408Arg) c.1841A>G (p.Gln614Arg) c.620A>G (p.Gln207Arg) c.92-3627A>G (n.92-3627A>G) | gnomAD v4 |
2 | g.237380971T>G | CA351215610 | COL6A3 | c.1223A>C (p.Gln408Pro) c.1841A>C (p.Gln614Pro) c.620A>C (p.Gln207Pro) c.92-3627A>C (n.92-3627A>C) | |
2 | g.237380972G>A | CA351215616 | COL6A3 | c.1222C>T (p.Gln408Ter) c.1840C>T (p.Gln614Ter) c.619C>T (p.Gln207Ter) c.92-3628C>T (n.92-3628C>T) | ClinVar dbSNP |
2 | g.237380972G>C | CA351215617 | COL6A3 | c.1222C>G (p.Gln408Glu) c.1840C>G (p.Gln614Glu) c.619C>G (p.Gln207Glu) c.92-3628C>G (n.92-3628C>G) | |
2 | g.237380972G= | CA1337627209 | COL6A3 | c.1222C= (p.Gln408=) c.1840C= (p.Gln614=) c.619C= (p.Gln207=) c.92-3628C= (n.92-3628C=) | |
2 | g.237380972G>T | CA351215624 | COL6A3 | c.1222C>A (p.Gln408Lys) c.1840C>A (p.Gln614Lys) c.619C>A (p.Gln207Lys) c.92-3628C>A (n.92-3628C>A) | |
2 | g.237380973C>A | CA351215630 | COL6A3 | c.1221G>T (p.Leu407Phe) c.1839G>T (p.Leu613Phe) c.618G>T (p.Leu206Phe) c.92-3629G>T (n.92-3629G>T) | ClinVar gnomAD v4 |
2 | g.237380973C= | CA1337627210 | COL6A3 | c.1221G= (p.Leu407=) c.1839G= (p.Leu613=) c.618G= (p.Leu206=) c.92-3629G= (n.92-3629G=) | |
2 | g.237380973C>G | CA351215626 | COL6A3 | c.1221G>C (p.Leu407Phe) c.1839G>C (p.Leu613Phe) c.618G>C (p.Leu206Phe) c.92-3629G>C (n.92-3629G>C) | |
2 | g.237380973C>T | CA67828112 | COL6A3 | c.1221G>A (p.Leu407=) c.1839G>A (p.Leu613=) c.618G>A (p.Leu206=) c.92-3629G>A (n.92-3629G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.237380974A= | CA1337627211 | COL6A3 | c.1220T= (p.Leu407=) c.1838T= (p.Leu613=) c.617T= (p.Leu206=) c.92-3630T= (n.92-3630T=) | |
2 | g.237380974A>C | CA351215633 | COL6A3 | c.1220T>G (p.Leu407Trp) c.1838T>G (p.Leu613Trp) c.617T>G (p.Leu206Trp) c.92-3630T>G (n.92-3630T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380974A>G | CA351215635 | COL6A3 | c.1220T>C (p.Leu407Ser) c.1838T>C (p.Leu613Ser) c.617T>C (p.Leu206Ser) c.92-3630T>C (n.92-3630T>C) | |
2 | g.237380974A>T | CA351215638 | COL6A3 | c.1220T>A (p.Leu407Ter) c.1838T>A (p.Leu613Ter) c.617T>A (p.Leu206Ter) c.92-3630T>A (n.92-3630T>A) | |
2 | g.237380975A>C | CA351215641 | COL6A3 | c.1219T>G (p.Leu407Val) c.1837T>G (p.Leu613Val) c.616T>G (p.Leu206Val) c.92-3631T>G (n.92-3631T>G) | |
2 | g.237380975A>G | CA431674698 | COL6A3 | c.1219T>C (p.Leu407=) c.1837T>C (p.Leu613=) c.616T>C (p.Leu206=) c.92-3631T>C (n.92-3631T>C) | gnomAD v4 |
2 | g.237380975A>T | CA351215642 | COL6A3 | c.1219T>A (p.Leu407Met) c.1837T>A (p.Leu613Met) c.616T>A (p.Leu206Met) c.92-3631T>A (n.92-3631T>A) | |
2 | g.237380976T>A | CA431674699 | COL6A3 | c.1218A>T (p.Pro406=) c.1836A>T (p.Pro612=) c.615A>T (p.Pro205=) c.92-3632A>T (n.92-3632A>T) | |
2 | g.237380976T>C | CA431674700 | COL6A3 | c.1218A>G (p.Pro406=) c.1836A>G (p.Pro612=) c.615A>G (p.Pro205=) c.92-3632A>G (n.92-3632A>G) | dbSNP gnomAD v4 |
2 | g.237380976T>G | CA431674701 | COL6A3 | c.1218A>C (p.Pro406=) c.1836A>C (p.Pro612=) c.615A>C (p.Pro205=) c.92-3632A>C (n.92-3632A>C) | |
2 | g.237380976T= | CA1337627212 | COL6A3 | c.1218A= (p.Pro406=) c.1836A= (p.Pro612=) c.615A= (p.Pro205=) c.92-3632A= (n.92-3632A=) | |
2 | g.237380977G>A | CA351215645 | COL6A3 | c.1217C>T (p.Pro406Leu) c.1835C>T (p.Pro612Leu) c.614C>T (p.Pro205Leu) c.92-3633C>T (n.92-3633C>T) | |
2 | g.237380977G>C | CA351215648 | COL6A3 | c.1217C>G (p.Pro406Arg) c.1835C>G (p.Pro612Arg) c.614C>G (p.Pro205Arg) c.92-3633C>G (n.92-3633C>G) | |
2 | g.237380977G>T | CA351215650 | COL6A3 | c.1217C>A (p.Pro406Gln) c.1835C>A (p.Pro612Gln) c.614C>A (p.Pro205Gln) c.92-3633C>A (n.92-3633C>A) | |
2 | g.237380978G>A | CA2189545 | COL6A3 | c.1216C>T (p.Pro406Ser) c.1834C>T (p.Pro612Ser) c.613C>T (p.Pro205Ser) c.92-3634C>T (n.92-3634C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237380978G>C | CA2189544 | COL6A3 | c.1216C>G (p.Pro406Ala) c.1834C>G (p.Pro612Ala) c.613C>G (p.Pro205Ala) c.92-3634C>G (n.92-3634C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380978G= | CA1337627213 | COL6A3 | c.1216C= (p.Pro406=) c.1834C= (p.Pro612=) c.613C= (p.Pro205=) c.92-3634C= (n.92-3634C=) | |
2 | g.237380978G>T | CA351215658 | COL6A3 | c.1216C>A (p.Pro406Thr) c.1834C>A (p.Pro612Thr) c.613C>A (p.Pro205Thr) c.92-3634C>A (n.92-3634C>A) | |
2 | g.237380979G>A | CA2189546 | COL6A3 | c.1215C>T (p.Ala405=) c.1833C>T (p.Ala611=) c.612C>T (p.Ala204=) c.92-3635C>T (n.92-3635C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380979G>C | CA431674702 | COL6A3 | c.1215C>G (p.Ala405=) c.1833C>G (p.Ala611=) c.612C>G (p.Ala204=) c.92-3635C>G (n.92-3635C>G) | |
2 | g.237380979G= | CA1337627214 | COL6A3 | c.1215C= (p.Ala405=) c.1833C= (p.Ala611=) c.612C= (p.Ala204=) c.92-3635C= (n.92-3635C=) | |
2 | g.237380979G>T | CA431674703 | COL6A3 | c.1215C>A (p.Ala405=) c.1833C>A (p.Ala611=) c.612C>A (p.Ala204=) c.92-3635C>A (n.92-3635C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.237380980G>A | CA351215671 | COL6A3 | c.1214C>T (p.Ala405Val) c.1832C>T (p.Ala611Val) c.611C>T (p.Ala204Val) c.92-3636C>T (n.92-3636C>T) | |
2 | g.237380980G>C | CA351215684 | COL6A3 | c.1214C>G (p.Ala405Gly) c.1832C>G (p.Ala611Gly) c.611C>G (p.Ala204Gly) c.92-3636C>G (n.92-3636C>G) | |
2 | g.237380980G>T | CA351215674 | COL6A3 | c.1214C>A (p.Ala405Asp) c.1832C>A (p.Ala611Asp) c.611C>A (p.Ala204Asp) c.92-3636C>A (n.92-3636C>A) | |
2 | g.237380981C>A | CA351215686 | COL6A3 | c.1213G>T (p.Ala405Ser) c.1831G>T (p.Ala611Ser) c.610G>T (p.Ala204Ser) c.92-3637G>T (n.92-3637G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237380981C= | CA1337627215 | COL6A3 | c.1213G= (p.Ala405=) c.1831G= (p.Ala611=) c.610G= (p.Ala204=) c.92-3637G= (n.92-3637G=) | |
2 | g.237380981C>G | CA351215687 | COL6A3 | c.1213G>C (p.Ala405Pro) c.1831G>C (p.Ala611Pro) c.610G>C (p.Ala204Pro) c.92-3637G>C (n.92-3637G>C) | |
2 | g.237380981C>T | CA2189547 | COL6A3 | c.1213G>A (p.Ala405Thr) c.1831G>A (p.Ala611Thr) c.610G>A (p.Ala204Thr) c.92-3637G>A (n.92-3637G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237380982G>A | CA2189548 | COL6A3 | c.1212C>T (p.Ala404=) c.1830C>T (p.Ala610=) c.609C>T (p.Ala203=) c.92-3638C>T (n.92-3638C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380982G>C | CA431674705 | COL6A3 | c.1212C>G (p.Ala404=) c.1830C>G (p.Ala610=) c.609C>G (p.Ala203=) c.92-3638C>G (n.92-3638C>G) | gnomAD v4 |
2 | g.237380982G= | CA1337627216 | COL6A3 | c.1212C= (p.Ala404=) c.1830C= (p.Ala610=) c.609C= (p.Ala203=) c.92-3638C= (n.92-3638C=) | |
2 | g.237380982G>T | CA431674704 | COL6A3 | c.1212C>A (p.Ala404=) c.1830C>A (p.Ala610=) c.609C>A (p.Ala203=) c.92-3638C>A (n.92-3638C>A) | ClinVar dbSNP |
2 | g.237380983G>A | CA351215692 | COL6A3 | c.1211C>T (p.Ala404Val) c.1829C>T (p.Ala610Val) c.608C>T (p.Ala203Val) c.92-3639C>T (n.92-3639C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380983G>C | CA351215695 | COL6A3 | c.1211C>G (p.Ala404Gly) c.1829C>G (p.Ala610Gly) c.608C>G (p.Ala203Gly) c.92-3639C>G (n.92-3639C>G) | |
2 | g.237380983G= | CA1337627217 | COL6A3 | c.1211C= (p.Ala404=) c.1829C= (p.Ala610=) c.608C= (p.Ala203=) c.92-3639C= (n.92-3639C=) | |
2 | g.237380983G>T | CA351215697 | COL6A3 | c.1211C>A (p.Ala404Asp) c.1829C>A (p.Ala610Asp) c.608C>A (p.Ala203Asp) c.92-3639C>A (n.92-3639C>A) | |
2 | g.237380984C>A | CA351215700 | COL6A3 | c.1210G>T (p.Ala404Ser) c.1828G>T (p.Ala610Ser) c.607G>T (p.Ala203Ser) c.92-3640G>T (n.92-3640G>T) | |
2 | g.237380984C>G | CA351215703 | COL6A3 | c.1210G>C (p.Ala404Pro) c.1828G>C (p.Ala610Pro) c.607G>C (p.Ala203Pro) c.92-3640G>C (n.92-3640G>C) | |
2 | g.237380984C>T | CA351215705 | COL6A3 | c.1210G>A (p.Ala404Thr) c.1828G>A (p.Ala610Thr) c.607G>A (p.Ala203Thr) c.92-3640G>A (n.92-3640G>A) | |
2 | g.237380985T>A | CA431674708 | COL6A3 | c.1209A>T (p.Arg403=) c.1827A>T (p.Arg609=) c.606A>T (p.Arg202=) c.92-3641A>T (n.92-3641A>T) | |
2 | g.237380985T>C | CA431674706 | COL6A3 | c.1209A>G (p.Arg403=) c.1827A>G (p.Arg609=) c.606A>G (p.Arg202=) c.92-3641A>G (n.92-3641A>G) | |
2 | g.237380985T>G | CA431674707 | COL6A3 | c.1209A>C (p.Arg403=) c.1827A>C (p.Arg609=) c.606A>C (p.Arg202=) c.92-3641A>C (n.92-3641A>C) | |
2 | g.237380986C>A | CA351215709 | COL6A3 | c.1208G>T (p.Arg403Leu) c.1826G>T (p.Arg609Leu) c.605G>T (p.Arg202Leu) c.92-3642G>T (n.92-3642G>T) | gnomAD v4 |
2 | g.237380986C= | CA1337627218 | COL6A3 | c.1208G= (p.Arg403=) c.1826G= (p.Arg609=) c.605G= (p.Arg202=) c.92-3642G= (n.92-3642G=) | |
2 | g.237380986C>G | CA2189549 | COL6A3 | c.1208G>C (p.Arg403Pro) c.1826G>C (p.Arg609Pro) c.605G>C (p.Arg202Pro) c.92-3642G>C (n.92-3642G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.237380986C>T | CA295305 | COL6A3 | c.1208G>A (p.Arg403Gln) c.1826G>A (p.Arg609Gln) c.605G>A (p.Arg202Gln) c.92-3642G>A (n.92-3642G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380987G>A | CA2189550 | COL6A3 | c.1207C>T (p.Arg403Ter) c.1825C>T (p.Arg609Ter) c.604C>T (p.Arg202Ter) c.92-3643C>T (n.92-3643C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237380987G>C | CA351215717 | COL6A3 | c.1207C>G (p.Arg403Gly) c.1825C>G (p.Arg609Gly) c.604C>G (p.Arg202Gly) c.92-3643C>G (n.92-3643C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380987G= | CA1337627219 | COL6A3 | c.1207C= (p.Arg403=) c.1825C= (p.Arg609=) c.604C= (p.Arg202=) c.92-3643C= (n.92-3643C=) | |
2 | g.237380987G>T | CA431674709 | COL6A3 | c.1207C>A (p.Arg403=) c.1825C>A (p.Arg609=) c.604C>A (p.Arg202=) c.92-3643C>A (n.92-3643C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380988G>A | CA431674710 | COL6A3 | c.1206C>T (p.Phe402=) c.1824C>T (p.Phe608=) c.603C>T (p.Phe201=) c.92-3644C>T (n.92-3644C>T) | |
2 | g.237380988G>C | CA351215721 | COL6A3 | c.1206C>G (p.Phe402Leu) c.1824C>G (p.Phe608Leu) c.603C>G (p.Phe201Leu) c.92-3644C>G (n.92-3644C>G) | |
2 | g.237380988G>T | CA351215723 | COL6A3 | c.1206C>A (p.Phe402Leu) c.1824C>A (p.Phe608Leu) c.603C>A (p.Phe201Leu) c.92-3644C>A (n.92-3644C>A) | |
2 | g.237380989A>C | CA351215725 | COL6A3 | c.1205T>G (p.Phe402Cys) c.1823T>G (p.Phe608Cys) c.602T>G (p.Phe201Cys) c.92-3645T>G (n.92-3645T>G) | |
2 | g.237380989A>G | CA351215727 | COL6A3 | c.1205T>C (p.Phe402Ser) c.1823T>C (p.Phe608Ser) c.602T>C (p.Phe201Ser) c.92-3645T>C (n.92-3645T>C) | |
2 | g.237380989A>T | CA351215730 | COL6A3 | c.1205T>A (p.Phe402Tyr) c.1823T>A (p.Phe608Tyr) c.602T>A (p.Phe201Tyr) c.92-3645T>A (n.92-3645T>A) | |
2 | g.237380990A>C | CA351215732 | COL6A3 | c.1204T>G (p.Phe402Val) c.1822T>G (p.Phe608Val) c.601T>G (p.Phe201Val) c.92-3646T>G (n.92-3646T>G) | |
2 | g.237380990A>G | CA351215735 | COL6A3 | c.1204T>C (p.Phe402Leu) c.1822T>C (p.Phe608Leu) c.601T>C (p.Phe201Leu) c.92-3646T>C (n.92-3646T>C) | |
2 | g.237380990A>T | CA351215736 | COL6A3 | c.1204T>A (p.Phe402Ile) c.1822T>A (p.Phe608Ile) c.601T>A (p.Phe201Ile) c.92-3646T>A (n.92-3646T>A) | |
2 | g.237380991C>A | CA351215738 | COL6A3 | c.1203G>T (p.Glu401Asp) c.1821G>T (p.Glu607Asp) c.600G>T (p.Glu200Asp) c.92-3647G>T (n.92-3647G>T) | |
2 | g.237380991C= | CA1337627220 | COL6A3 | c.1203G= (p.Glu401=) c.1821G= (p.Glu607=) c.600G= (p.Glu200=) c.92-3647G= (n.92-3647G=) | |
2 | g.237380991C>G | CA351215740 | COL6A3 | c.1203G>C (p.Glu401Asp) c.1821G>C (p.Glu607Asp) c.600G>C (p.Glu200Asp) c.92-3647G>C (n.92-3647G>C) | gnomAD v4 |
2 | g.237380991C>T | CA431674711 | COL6A3 | c.1203G>A (p.Glu401=) c.1821G>A (p.Glu607=) c.600G>A (p.Glu200=) c.92-3647G>A (n.92-3647G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237380992T>A | CA351215748 | COL6A3 | c.1202A>T (p.Glu401Val) c.1820A>T (p.Glu607Val) c.599A>T (p.Glu200Val) c.92-3648A>T (n.92-3648A>T) | |
2 | g.237380992T>C | CA351215746 | COL6A3 | c.1202A>G (p.Glu401Gly) c.1820A>G (p.Glu607Gly) c.599A>G (p.Glu200Gly) c.92-3648A>G (n.92-3648A>G) | |
2 | g.237380992T>G | CA351215743 | COL6A3 | c.1202A>C (p.Glu401Ala) c.1820A>C (p.Glu607Ala) c.599A>C (p.Glu200Ala) c.92-3648A>C (n.92-3648A>C) | |
2 | g.237380993C>A | CA351215751 | COL6A3 | c.1201G>T (p.Glu401Ter) c.1819G>T (p.Glu607Ter) c.598G>T (p.Glu200Ter) c.92-3649G>T (n.92-3649G>T) | |
2 | g.237380993C>G | CA351215754 | COL6A3 | c.1201G>C (p.Glu401Gln) c.1819G>C (p.Glu607Gln) c.598G>C (p.Glu200Gln) c.92-3649G>C (n.92-3649G>C) | |
2 | g.237380993C>T | CA351215752 | COL6A3 | c.1201G>A (p.Glu401Lys) c.1819G>A (p.Glu607Lys) c.598G>A (p.Glu200Lys) c.92-3649G>A (n.92-3649G>A) | |
2 | g.237380994del | CA2561902965 | COL6A3 | c.1200del (p.Glu401SerfsTer?) c.1818del (p.Glu607SerfsTer?) c.597del (p.Glu200SerfsTer?) c.92-3650del (n.92-3650del) | |
2 | g.237380994A>C | CA431674712 | COL6A3 | c.1200T>G (p.Ala400=) c.1818T>G (p.Ala606=) c.597T>G (p.Ala199=) c.92-3650T>G (n.92-3650T>G) | |
2 | g.237380994A>G | CA431674713 | COL6A3 | c.1200T>C (p.Ala400=) c.1818T>C (p.Ala606=) c.597T>C (p.Ala199=) c.92-3650T>C (n.92-3650T>C) | |
2 | g.237380994A>T | CA431674714 | COL6A3 | c.1200T>A (p.Ala400=) c.1818T>A (p.Ala606=) c.597T>A (p.Ala199=) c.92-3650T>A (n.92-3650T>A) | |
2 | g.237380995G>A | CA351216643 | COL6A3 | c.1199C>T (p.Ala400Val) c.1817C>T (p.Ala606Val) c.596C>T (p.Ala199Val) c.92-3651C>T (n.92-3651C>T) | COSMIC COSMIC |
2 | g.237380995G>C | CA351216646 | COL6A3 | c.1199C>G (p.Ala400Gly) c.1817C>G (p.Ala606Gly) c.596C>G (p.Ala199Gly) c.92-3651C>G (n.92-3651C>G) | |
2 | g.237380995G>T | CA351216649 | COL6A3 | c.1199C>A (p.Ala400Asp) c.1817C>A (p.Ala606Asp) c.596C>A (p.Ala199Asp) c.92-3651C>A (n.92-3651C>A) | |
2 | g.237380996C>A | CA351216651 | COL6A3 | c.1198G>T (p.Ala400Ser) c.1816G>T (p.Ala606Ser) c.595G>T (p.Ala199Ser) c.92-3652G>T (n.92-3652G>T) | dbSNP gnomAD v4 |
2 | g.237380996C= | CA1337627221 | COL6A3 | c.1198G= (p.Ala400=) c.1816G= (p.Ala606=) c.595G= (p.Ala199=) c.92-3652G= (n.92-3652G=) | |
2 | g.237380996C>G | CA351216653 | COL6A3 | c.1198G>C (p.Ala400Pro) c.1816G>C (p.Ala606Pro) c.595G>C (p.Ala199Pro) c.92-3652G>C (n.92-3652G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.237380996C>T | CA351216655 | COL6A3 | c.1198G>A (p.Ala400Thr) c.1816G>A (p.Ala606Thr) c.595G>A (p.Ala199Thr) c.92-3652G>A (n.92-3652G>A) | |
2 | g.237380997T>A | CA431712466 | COL6A3 | c.1197A>T (p.Pro399=) c.1815A>T (p.Pro605=) c.594A>T (p.Pro198=) c.92-3653A>T (n.92-3653A>T) | |
2 | g.237380997T>C | CA431712462 | COL6A3 | c.1197A>G (p.Pro399=) c.1815A>G (p.Pro605=) c.594A>G (p.Pro198=) c.92-3653A>G (n.92-3653A>G) | |
2 | g.237380997T>G | CA431712464 | COL6A3 | c.1197A>C (p.Pro399=) c.1815A>C (p.Pro605=) c.594A>C (p.Pro198=) c.92-3653A>C (n.92-3653A>C) | |
2 | g.237380998G>A | CA351216668 | COL6A3 | c.1196C>T (p.Pro399Leu) c.1814C>T (p.Pro605Leu) c.593C>T (p.Pro198Leu) c.92-3654C>T (n.92-3654C>T) | |
2 | g.237380998G>C | CA351216670 | COL6A3 | c.1196C>G (p.Pro399Arg) c.1814C>G (p.Pro605Arg) c.593C>G (p.Pro198Arg) c.92-3654C>G (n.92-3654C>G) | |
2 | g.237380998G>T | CA351216672 | COL6A3 | c.1196C>A (p.Pro399Gln) c.1814C>A (p.Pro605Gln) c.593C>A (p.Pro198Gln) c.92-3654C>A (n.92-3654C>A) | |
2 | g.237380999G>A | CA351216675 | COL6A3 | c.1195C>T (p.Pro399Ser) c.1813C>T (p.Pro605Ser) c.592C>T (p.Pro198Ser) c.92-3655C>T (n.92-3655C>T) | |
2 | g.237380999G>C | CA351216676 | COL6A3 | c.1195C>G (p.Pro399Ala) c.1813C>G (p.Pro605Ala) c.592C>G (p.Pro198Ala) c.92-3655C>G (n.92-3655C>G) | |
2 | g.237380999G>T | CA351216677 | COL6A3 | c.1195C>A (p.Pro399Thr) c.1813C>A (p.Pro605Thr) c.592C>A (p.Pro198Thr) c.92-3655C>A (n.92-3655C>A) | |
2 | g.237381000G>A | CA2189551 | COL6A3 | c.1194C>T (p.Ile398=) c.1812C>T (p.Ile604=) c.591C>T (p.Ile197=) c.92-3656C>T (n.92-3656C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381000G>C | CA351216683 | COL6A3 | c.1194C>G (p.Ile398Met) c.1812C>G (p.Ile604Met) c.591C>G (p.Ile197Met) c.92-3656C>G (n.92-3656C>G) | |
2 | g.237381000G= | CA1337627222 | COL6A3 | c.1194C= (p.Ile398=) c.1812C= (p.Ile604=) c.591C= (p.Ile197=) c.92-3656C= (n.92-3656C=) | |
2 | g.237381000G>T | CA431712468 | COL6A3 | c.1194C>A (p.Ile398=) c.1812C>A (p.Ile604=) c.591C>A (p.Ile197=) c.92-3656C>A (n.92-3656C>A) | gnomAD v4 |
2 | g.237381001A>C | CA351216691 | COL6A3 | c.1193T>G (p.Ile398Ser) c.1811T>G (p.Ile604Ser) c.590T>G (p.Ile197Ser) c.92-3657T>G (n.92-3657T>G) | |
2 | g.237381001A>G | CA351216699 | COL6A3 | c.1193T>C (p.Ile398Thr) c.1811T>C (p.Ile604Thr) c.590T>C (p.Ile197Thr) c.92-3657T>C (n.92-3657T>C) | |
2 | g.237381001A>T | CA351216700 | COL6A3 | c.1193T>A (p.Ile398Asn) c.1811T>A (p.Ile604Asn) c.590T>A (p.Ile197Asn) c.92-3657T>A (n.92-3657T>A) | |
2 | g.237381001_237381002insG | CA2508298946 | COL6A3 | c.1192_1193insC (p.Ile398ThrfsTer4) c.1810_1811insC (p.Ile604ThrfsTer4) c.589_590insC (p.Ile197ThrfsTer4) c.92-3658_92-3657insC (n.92-3658_92-3657insC) | |
2 | g.237381002T>A | CA351216703 | COL6A3 | c.1192A>T (p.Ile398Phe) c.1810A>T (p.Ile604Phe) c.589A>T (p.Ile197Phe) c.92-3658A>T (n.92-3658A>T) | |
2 | g.237381002T>C | CA351216709 | COL6A3 | c.1192A>G (p.Ile398Val) c.1810A>G (p.Ile604Val) c.589A>G (p.Ile197Val) c.92-3658A>G (n.92-3658A>G) | |
2 | g.237381002T>G | CA351216712 | COL6A3 | c.1192A>C (p.Ile398Leu) c.1810A>C (p.Ile604Leu) c.589A>C (p.Ile197Leu) c.92-3658A>C (n.92-3658A>C) | dbSNP |
2 | g.237381002T= | CA1337627223 | COL6A3 | c.1192A= (p.Ile398=) c.1810A= (p.Ile604=) c.589A= (p.Ile197=) c.92-3658A= (n.92-3658A=) | |
2 | g.237381003G>A | CA431712472 | COL6A3 | c.1191C>T (p.Phe397=) c.1809C>T (p.Phe603=) c.588C>T (p.Phe196=) c.92-3659C>T (n.92-3659C>T) | |
2 | g.237381003G>C | CA351216714 | COL6A3 | c.1191C>G (p.Phe397Leu) c.1809C>G (p.Phe603Leu) c.588C>G (p.Phe196Leu) c.92-3659C>G (n.92-3659C>G) | gnomAD v4 |
2 | g.237381003G>T | CA351216721 | COL6A3 | c.1191C>A (p.Phe397Leu) c.1809C>A (p.Phe603Leu) c.588C>A (p.Phe196Leu) c.92-3659C>A (n.92-3659C>A) | |
2 | g.237381004A>C | CA351216724 | COL6A3 | c.1190T>G (p.Phe397Cys) c.1808T>G (p.Phe603Cys) c.587T>G (p.Phe196Cys) c.92-3660T>G (n.92-3660T>G) | |
2 | g.237381004A>G | CA351216727 | COL6A3 | c.1190T>C (p.Phe397Ser) c.1808T>C (p.Phe603Ser) c.587T>C (p.Phe196Ser) c.92-3660T>C (n.92-3660T>C) | |
2 | g.237381004A>T | CA351216728 | COL6A3 | c.1190T>A (p.Phe397Tyr) c.1808T>A (p.Phe603Tyr) c.587T>A (p.Phe196Tyr) c.92-3660T>A (n.92-3660T>A) | |
2 | g.237381005A>C | CA351216730 | COL6A3 | c.1189T>G (p.Phe397Val) c.1807T>G (p.Phe603Val) c.586T>G (p.Phe196Val) c.92-3661T>G (n.92-3661T>G) | |
2 | g.237381005A>G | CA351216731 | COL6A3 | c.1189T>C (p.Phe397Leu) c.1807T>C (p.Phe603Leu) c.586T>C (p.Phe196Leu) c.92-3661T>C (n.92-3661T>C) | |
2 | g.237381005A>T | CA351216729 | COL6A3 | c.1189T>A (p.Phe397Ile) c.1807T>A (p.Phe603Ile) c.586T>A (p.Phe196Ile) c.92-3661T>A (n.92-3661T>A) | |
2 | g.237381006C>A | CA431712474 | COL6A3 | c.1188G>T (p.Val396=) c.1806G>T (p.Val602=) c.585G>T (p.Val195=) c.92-3662G>T (n.92-3662G>T) | |
2 | g.237381006C>G | CA431712476 | COL6A3 | c.1188G>C (p.Val396=) c.1806G>C (p.Val602=) c.585G>C (p.Val195=) c.92-3662G>C (n.92-3662G>C) | |
2 | g.237381006C>T | CA431712475 | COL6A3 | c.1188G>A (p.Val396=) c.1806G>A (p.Val602=) c.585G>A (p.Val195=) c.92-3662G>A (n.92-3662G>A) | gnomAD v4 |
2 | g.237381007A>C | CA351216733 | COL6A3 | c.1187T>G (p.Val396Gly) c.1805T>G (p.Val602Gly) c.584T>G (p.Val195Gly) c.92-3663T>G (n.92-3663T>G) | |
2 | g.237381007A>G | CA351216735 | COL6A3 | c.1187T>C (p.Val396Ala) c.1805T>C (p.Val602Ala) c.584T>C (p.Val195Ala) c.92-3663T>C (n.92-3663T>C) | gnomAD v4 |
2 | g.237381007A>T | CA351216736 | COL6A3 | c.1187T>A (p.Val396Glu) c.1805T>A (p.Val602Glu) c.584T>A (p.Val195Glu) c.92-3663T>A (n.92-3663T>A) | |
2 | g.237381008C>A | CA351216737 | COL6A3 | c.1186G>T (p.Val396Leu) c.1804G>T (p.Val602Leu) c.583G>T (p.Val195Leu) c.92-3664G>T (n.92-3664G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.237381008C>G | CA351216738 | COL6A3 | c.1186G>C (p.Val396Leu) c.1804G>C (p.Val602Leu) c.583G>C (p.Val195Leu) c.92-3664G>C (n.92-3664G>C) | |
2 | g.237381008C>T | CA351216739 | COL6A3 | c.1186G>A (p.Val396Met) c.1804G>A (p.Val602Met) c.583G>A (p.Val195Met) c.92-3664G>A (n.92-3664G>A) | |
2 | g.237381009C>A | CA431712478 | COL6A3 | c.1185G>T (p.Leu395=) c.1803G>T (p.Leu601=) c.582G>T (p.Leu194=) c.92-3665G>T (n.92-3665G>T) | |
2 | g.237381009C>G | CA431712479 | COL6A3 | c.1185G>C (p.Leu395=) c.1803G>C (p.Leu601=) c.582G>C (p.Leu194=) c.92-3665G>C (n.92-3665G>C) | gnomAD v4 |
2 | g.237381009C>T | CA431712480 | COL6A3 | c.1185G>A (p.Leu395=) c.1803G>A (p.Leu601=) c.582G>A (p.Leu194=) c.92-3665G>A (n.92-3665G>A) | |
2 | g.237381010A>C | CA351216749 | COL6A3 | c.1184T>G (p.Leu395Arg) c.1802T>G (p.Leu601Arg) c.581T>G (p.Leu194Arg) c.92-3666T>G (n.92-3666T>G) | |
2 | g.237381010A>G | CA351216742 | COL6A3 | c.1184T>C (p.Leu395Pro) c.1802T>C (p.Leu601Pro) c.581T>C (p.Leu194Pro) c.92-3666T>C (n.92-3666T>C) | |
2 | g.237381010A>T | CA351216743 | COL6A3 | c.1184T>A (p.Leu395Gln) c.1802T>A (p.Leu601Gln) c.581T>A (p.Leu194Gln) c.92-3666T>A (n.92-3666T>A) | |
2 | g.237381011G>A | CA431712482 | COL6A3 | c.1183C>T (p.Leu395=) c.1801C>T (p.Leu601=) c.580C>T (p.Leu194=) c.92-3667C>T (n.92-3667C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381011G>C | CA351216752 | COL6A3 | c.1183C>G (p.Leu395Val) c.1801C>G (p.Leu601Val) c.580C>G (p.Leu194Val) c.92-3667C>G (n.92-3667C>G) | |
2 | g.237381011G= | CA1337627224 | COL6A3 | c.1183C= (p.Leu395=) c.1801C= (p.Leu601=) c.580C= (p.Leu194=) c.92-3667C= (n.92-3667C=) | |
2 | g.237381011G>T | CA351216755 | COL6A3 | c.1183C>A (p.Leu395Met) c.1801C>A (p.Leu601Met) c.580C>A (p.Leu194Met) c.92-3667C>A (n.92-3667C>A) | gnomAD v4 |
2 | g.237381012G>A | CA431712484 | COL6A3 | c.1182C>T (p.Ser394=) c.1800C>T (p.Ser600=) c.579C>T (p.Ser193=) c.92-3668C>T (n.92-3668C>T) | |
2 | g.237381012G>C | CA431712485 | COL6A3 | c.1182C>G (p.Ser394=) c.1800C>G (p.Ser600=) c.579C>G (p.Ser193=) c.92-3668C>G (n.92-3668C>G) | |
2 | g.237381012G>T | CA431712486 | COL6A3 | c.1182C>A (p.Ser394=) c.1800C>A (p.Ser600=) c.579C>A (p.Ser193=) c.92-3668C>A (n.92-3668C>A) | |
2 | g.237381013G>A | CA351216757 | COL6A3 | c.1181C>T (p.Ser394Phe) c.1799C>T (p.Ser600Phe) c.578C>T (p.Ser193Phe) c.92-3669C>T (n.92-3669C>T) | COSMIC COSMIC |
2 | g.237381013G>C | CA351216758 | COL6A3 | c.1181C>G (p.Ser394Cys) c.1799C>G (p.Ser600Cys) c.578C>G (p.Ser193Cys) c.92-3669C>G (n.92-3669C>G) | gnomAD v4 |
2 | g.237381013G>T | CA351216759 | COL6A3 | c.1181C>A (p.Ser394Tyr) c.1799C>A (p.Ser600Tyr) c.578C>A (p.Ser193Tyr) c.92-3669C>A (n.92-3669C>A) | |
2 | g.237381014A>C | CA351216760 | COL6A3 | c.1180T>G (p.Ser394Ala) c.1798T>G (p.Ser600Ala) c.577T>G (p.Ser193Ala) c.92-3670T>G (n.92-3670T>G) | |
2 | g.237381014A>G | CA351216764 | COL6A3 | c.1180T>C (p.Ser394Pro) c.1798T>C (p.Ser600Pro) c.577T>C (p.Ser193Pro) c.92-3670T>C (n.92-3670T>C) | |
2 | g.237381014A>T | CA351216763 | COL6A3 | c.1180T>A (p.Ser394Thr) c.1798T>A (p.Ser600Thr) c.577T>A (p.Ser193Thr) c.92-3670T>A (n.92-3670T>A) | gnomAD v4 |
2 | g.237381015G>A | CA431712490 | COL6A3 | c.1179C>T (p.Ser393=) c.1797C>T (p.Ser599=) c.576C>T (p.Ser192=) c.92-3671C>T (n.92-3671C>T) | gnomAD v3 gnomAD v4 |
2 | g.237381015G>C | CA431712491 | COL6A3 | c.1179C>G (p.Ser393=) c.1797C>G (p.Ser599=) c.576C>G (p.Ser192=) c.92-3671C>G (n.92-3671C>G) | |
2 | g.237381015G>T | CA431712492 | COL6A3 | c.1179C>A (p.Ser393=) c.1797C>A (p.Ser599=) c.576C>A (p.Ser192=) c.92-3671C>A (n.92-3671C>A) | |
2 | g.237381016G>A | CA2189552 | COL6A3 | c.1178C>T (p.Ser393Phe) c.1796C>T (p.Ser599Phe) c.575C>T (p.Ser192Phe) c.92-3672C>T (n.92-3672C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381016G>C | CA351216774 | COL6A3 | c.1178C>G (p.Ser393Cys) c.1796C>G (p.Ser599Cys) c.575C>G (p.Ser192Cys) c.92-3672C>G (n.92-3672C>G) | |
2 | g.237381016G= | CA1337627225 | COL6A3 | c.1178C= (p.Ser393=) c.1796C= (p.Ser599=) c.575C= (p.Ser192=) c.92-3672C= (n.92-3672C=) | |
2 | g.237381016G>T | CA351216777 | COL6A3 | c.1178C>A (p.Ser393Tyr) c.1796C>A (p.Ser599Tyr) c.575C>A (p.Ser192Tyr) c.92-3672C>A (n.92-3672C>A) | |
2 | g.237381016_237381017delinsAT | CA10605372 | COL6A3 | c.1177_1178delinsAT (p.Ser393Ile) c.1795_1796delinsAT (p.Ser599Ile) c.574_575delinsAT (p.Ser192Ile) c.92-3673_92-3672delinsAT (n.92-3673_92-3672delinsAT) | ClinVar dbSNP |
2 | g.237381016_237381017delinsGA | CA1337627226 | COL6A3 | c.1177_1178delinsTC (p.Ser393=) c.1795_1796delinsTC (p.Ser599=) c.574_575delinsTC (p.Ser192=) c.92-3673_92-3672delinsTC (n.92-3673_92-3672delinsTC) | |
2 | g.237381017A= | CA1337627227 | COL6A3 | c.1177T= (p.Ser393=) c.1795T= (p.Ser599=) c.574T= (p.Ser192=) c.92-3673T= (n.92-3673T=) | |
2 | g.237381017A>C | CA351216785 | COL6A3 | c.1177T>G (p.Ser393Ala) c.1795T>G (p.Ser599Ala) c.574T>G (p.Ser192Ala) c.92-3673T>G (n.92-3673T>G) | |
2 | g.237381017A>G | CA351216792 | COL6A3 | c.1177T>C (p.Ser393Pro) c.1795T>C (p.Ser599Pro) c.574T>C (p.Ser192Pro) c.92-3673T>C (n.92-3673T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381017A>T | CA2189553 | COL6A3 | c.1177T>A (p.Ser393Thr) c.1795T>A (p.Ser599Thr) c.574T>A (p.Ser192Thr) c.92-3673T>A (n.92-3673T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381018G>A | CA431712494 | COL6A3 | c.1176C>T (p.Asp392=) c.1794C>T (p.Asp598=) c.573C>T (p.Asp191=) c.92-3674C>T (n.92-3674C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381018G>C | CA351216799 | COL6A3 | c.1176C>G (p.Asp392Glu) c.1794C>G (p.Asp598Glu) c.573C>G (p.Asp191Glu) c.92-3674C>G (n.92-3674C>G) | |
2 | g.237381018G= | CA1337627228 | COL6A3 | c.1176C= (p.Asp392=) c.1794C= (p.Asp598=) c.573C= (p.Asp191=) c.92-3674C= (n.92-3674C=) | |
2 | g.237381018G>T | CA351216801 | COL6A3 | c.1176C>A (p.Asp392Glu) c.1794C>A (p.Asp598Glu) c.573C>A (p.Asp191Glu) c.92-3674C>A (n.92-3674C>A) | |
2 | g.237381019T>A | CA351216804 | COL6A3 | c.1175A>T (p.Asp392Val) c.1793A>T (p.Asp598Val) c.572A>T (p.Asp191Val) c.92-3675A>T (n.92-3675A>T) | |
2 | g.237381019T>C | CA351216805 | COL6A3 | c.1175A>G (p.Asp392Gly) c.1793A>G (p.Asp598Gly) c.572A>G (p.Asp191Gly) c.92-3675A>G (n.92-3675A>G) | |
2 | g.237381019T>G | CA351216807 | COL6A3 | c.1175A>C (p.Asp392Ala) c.1793A>C (p.Asp598Ala) c.572A>C (p.Asp191Ala) c.92-3675A>C (n.92-3675A>C) | gnomAD v4 |
2 | g.237381020C>A | CA351216809 | COL6A3 | c.1174G>T (p.Asp392Tyr) c.1792G>T (p.Asp598Tyr) c.571G>T (p.Asp191Tyr) c.92-3676G>T (n.92-3676G>T) | |
2 | g.237381020C= | CA1337627229 | COL6A3 | c.1174G= (p.Asp392=) c.1792G= (p.Asp598=) c.571G= (p.Asp191=) c.92-3676G= (n.92-3676G=) | |
2 | g.237381020C>G | CA351216812 | COL6A3 | c.1174G>C (p.Asp392His) c.1792G>C (p.Asp598His) c.571G>C (p.Asp191His) c.92-3676G>C (n.92-3676G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237381020C>T | CA2189554 | COL6A3 | c.1174G>A (p.Asp392Asn) c.1792G>A (p.Asp598Asn) c.571G>A (p.Asp191Asn) c.92-3676G>A (n.92-3676G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237381021G>A | CA2189555 | COL6A3 | c.1173C>T (p.Phe391=) c.1791C>T (p.Phe597=) c.570C>T (p.Phe190=) c.92-3677C>T (n.92-3677C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381021G>C | CA351216814 | COL6A3 | c.1173C>G (p.Phe391Leu) c.1791C>G (p.Phe597Leu) c.570C>G (p.Phe190Leu) c.92-3677C>G (n.92-3677C>G) | |
2 | g.237381021G= | CA1337627230 | COL6A3 | c.1173C= (p.Phe391=) c.1791C= (p.Phe597=) c.570C= (p.Phe190=) c.92-3677C= (n.92-3677C=) | |
2 | g.237381021G>T | CA2189556 | COL6A3 | c.1173C>A (p.Phe391Leu) c.1791C>A (p.Phe597Leu) c.570C>A (p.Phe190Leu) c.92-3677C>A (n.92-3677C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381022A>C | CA351216818 | COL6A3 | c.1172T>G (p.Phe391Cys) c.1790T>G (p.Phe597Cys) c.569T>G (p.Phe190Cys) c.92-3678T>G (n.92-3678T>G) | |
2 | g.237381022A>G | CA351216821 | COL6A3 | c.1172T>C (p.Phe391Ser) c.1790T>C (p.Phe597Ser) c.569T>C (p.Phe190Ser) c.92-3678T>C (n.92-3678T>C) | |
2 | g.237381022A>T | CA351216823 | COL6A3 | c.1172T>A (p.Phe391Tyr) c.1790T>A (p.Phe597Tyr) c.569T>A (p.Phe190Tyr) c.92-3678T>A (n.92-3678T>A) | |
2 | g.237381023A>C | CA351216825 | COL6A3 | c.1171T>G (p.Phe391Val) c.1789T>G (p.Phe597Val) c.568T>G (p.Phe190Val) c.92-3679T>G (n.92-3679T>G) | |
2 | g.237381023A>G | CA351216827 | COL6A3 | c.1171T>C (p.Phe391Leu) c.1789T>C (p.Phe597Leu) c.568T>C (p.Phe190Leu) c.92-3679T>C (n.92-3679T>C) | |
2 | g.237381023A>T | CA351216828 | COL6A3 | c.1171T>A (p.Phe391Ile) c.1789T>A (p.Phe597Ile) c.568T>A (p.Phe190Ile) c.92-3679T>A (n.92-3679T>A) | |
2 | g.237381024A>C | CA431712499 | COL6A3 | c.1170T>G (p.Ala390=) c.1788T>G (p.Ala596=) c.567T>G (p.Ala189=) c.92-3680T>G (n.92-3680T>G) | |
2 | g.237381024A>G | CA431712500 | COL6A3 | c.1170T>C (p.Ala390=) c.1788T>C (p.Ala596=) c.567T>C (p.Ala189=) c.92-3680T>C (n.92-3680T>C) | |
2 | g.237381024A>T | CA431712501 | COL6A3 | c.1170T>A (p.Ala390=) c.1788T>A (p.Ala596=) c.567T>A (p.Ala189=) c.92-3680T>A (n.92-3680T>A) | |
2 | g.237381025G>A | CA351216830 | COL6A3 | c.1169C>T (p.Ala390Val) c.1787C>T (p.Ala596Val) c.566C>T (p.Ala189Val) c.92-3681C>T (n.92-3681C>T) | gnomAD v4 |
2 | g.237381025G>C | CA351216831 | COL6A3 | c.1169C>G (p.Ala390Gly) c.1787C>G (p.Ala596Gly) c.566C>G (p.Ala189Gly) c.92-3681C>G (n.92-3681C>G) | |
2 | g.237381025G>T | CA351216832 | COL6A3 | c.1169C>A (p.Ala390Asp) c.1787C>A (p.Ala596Asp) c.566C>A (p.Ala189Asp) c.92-3681C>A (n.92-3681C>A) | |
2 | g.237381026C>A | CA147922 | COL6A3 | c.1168G>T (p.Ala390Ser) c.1786G>T (p.Ala596Ser) c.565G>T (p.Ala189Ser) c.92-3682G>T (n.92-3682G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381026C= | CA1337627231 | COL6A3 | c.1168G= (p.Ala390=) c.1786G= (p.Ala596=) c.565G= (p.Ala189=) c.92-3682G= (n.92-3682G=) | |
2 | g.237381026C>G | CA351216834 | COL6A3 | c.1168G>C (p.Ala390Pro) c.1786G>C (p.Ala596Pro) c.565G>C (p.Ala189Pro) c.92-3682G>C (n.92-3682G>C) | |
2 | g.237381026C>T | CA2189557 | COL6A3 | c.1168G>A (p.Ala390Thr) c.1786G>A (p.Ala596Thr) c.565G>A (p.Ala189Thr) c.92-3682G>A (n.92-3682G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.237381027G>A | CA2189559 | COL6A3 | c.1167C>T (p.Ile389=) c.1785C>T (p.Ile595=) c.564C>T (p.Ile188=) c.92-3683C>T (n.92-3683C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381027G>C | CA2189558 | COL6A3 | c.1167C>G (p.Ile389Met) c.1785C>G (p.Ile595Met) c.564C>G (p.Ile188Met) c.92-3683C>G (n.92-3683C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381027G= | CA1337627232 | COL6A3 | c.1167C= (p.Ile389=) c.1785C= (p.Ile595=) c.564C= (p.Ile188=) c.92-3683C= (n.92-3683C=) | |
2 | g.237381027G>T | CA431712503 | COL6A3 | c.1167C>A (p.Ile389=) c.1785C>A (p.Ile595=) c.564C>A (p.Ile188=) c.92-3683C>A (n.92-3683C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237381028A>C | CA351216841 | COL6A3 | c.1166T>G (p.Ile389Ser) c.1784T>G (p.Ile595Ser) c.563T>G (p.Ile188Ser) c.92-3684T>G (n.92-3684T>G) | |
2 | g.237381028A>G | CA351216843 | COL6A3 | c.1166T>C (p.Ile389Thr) c.1784T>C (p.Ile595Thr) c.563T>C (p.Ile188Thr) c.92-3684T>C (n.92-3684T>C) | |
2 | g.237381028A>T | CA351216845 | COL6A3 | c.1166T>A (p.Ile389Asn) c.1784T>A (p.Ile595Asn) c.563T>A (p.Ile188Asn) c.92-3684T>A (n.92-3684T>A) | |
2 | g.237381029T>A | CA351216847 | COL6A3 | c.1165A>T (p.Ile389Phe) c.1783A>T (p.Ile595Phe) c.562A>T (p.Ile188Phe) c.92-3685A>T (n.92-3685A>T) | |
2 | g.237381029T>C | CA351216848 | COL6A3 | c.1165A>G (p.Ile389Val) c.1783A>G (p.Ile595Val) c.562A>G (p.Ile188Val) c.92-3685A>G (n.92-3685A>G) | gnomAD v4 |
2 | g.237381029T>G | CA351216850 | COL6A3 | c.1165A>C (p.Ile389Leu) c.1783A>C (p.Ile595Leu) c.562A>C (p.Ile188Leu) c.92-3685A>C (n.92-3685A>C) | |
2 | g.237381030C>A | CA351216853 | COL6A3 | c.1164G>T (p.Glu388Asp) c.1782G>T (p.Glu594Asp) c.561G>T (p.Glu187Asp) c.92-3686G>T (n.92-3686G>T) | |
2 | g.237381030C= | CA1337627233 | COL6A3 | c.1164G= (p.Glu388=) c.1782G= (p.Glu594=) c.561G= (p.Glu187=) c.92-3686G= (n.92-3686G=) | |
2 | g.237381030C>G | CA351216856 | COL6A3 | c.1164G>C (p.Glu388Asp) c.1782G>C (p.Glu594Asp) c.561G>C (p.Glu187Asp) c.92-3686G>C (n.92-3686G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237381030C>T | CA431712506 | COL6A3 | c.1164G>A (p.Glu388=) c.1782G>A (p.Glu594=) c.561G>A (p.Glu187=) c.92-3686G>A (n.92-3686G>A) | gnomAD v4 |
2 | g.237381031T>A | CA351216859 | COL6A3 | c.1163A>T (p.Glu388Val) c.1781A>T (p.Glu594Val) c.560A>T (p.Glu187Val) c.92-3687A>T (n.92-3687A>T) | |
2 | g.237381031T>C | CA351216860 | COL6A3 | c.1163A>G (p.Glu388Gly) c.1781A>G (p.Glu594Gly) c.560A>G (p.Glu187Gly) c.92-3687A>G (n.92-3687A>G) | |
2 | g.237381031T>G | CA351216861 | COL6A3 | c.1163A>C (p.Glu388Ala) c.1781A>C (p.Glu594Ala) c.560A>C (p.Glu187Ala) c.92-3687A>C (n.92-3687A>C) | |
2 | g.237381032C>A | CA351216863 | COL6A3 | c.1162G>T (p.Glu388Ter) c.1780G>T (p.Glu594Ter) c.559G>T (p.Glu187Ter) c.92-3688G>T (n.92-3688G>T) | |
2 | g.237381032C= | CA1337627234 | COL6A3 | c.1162G= (p.Glu388=) c.1780G= (p.Glu594=) c.559G= (p.Glu187=) c.92-3688G= (n.92-3688G=) | |
2 | g.237381032C>G | CA351216865 | COL6A3 | c.1162G>C (p.Glu388Gln) c.1780G>C (p.Glu594Gln) c.559G>C (p.Glu187Gln) c.92-3688G>C (n.92-3688G>C) | |
2 | g.237381032C>T | CA2189560 | COL6A3 | c.1162G>A (p.Glu388Lys) c.1780G>A (p.Glu594Lys) c.559G>A (p.Glu187Lys) c.92-3688G>A (n.92-3688G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.237381033T>A | CA351216866 | COL6A3 | c.1161A>T (p.Glu387Asp) c.1779A>T (p.Glu593Asp) c.558A>T (p.Glu186Asp) c.92-3689A>T (n.92-3689A>T) | |
2 | g.237381033T>C | CA431712508 | COL6A3 | c.1161A>G (p.Glu387=) c.1779A>G (p.Glu593=) c.558A>G (p.Glu186=) c.92-3689A>G (n.92-3689A>G) | |
2 | g.237381033T>G | CA351216867 | COL6A3 | c.1161A>C (p.Glu387Asp) c.1779A>C (p.Glu593Asp) c.558A>C (p.Glu186Asp) c.92-3689A>C (n.92-3689A>C) | gnomAD v4 |
2 | g.237381034T>A | CA351216869 | COL6A3 | c.1160A>T (p.Glu387Val) c.1778A>T (p.Glu593Val) c.557A>T (p.Glu186Val) c.92-3690A>T (n.92-3690A>T) | |
2 | g.237381034T>C | CA351216880 | COL6A3 | c.1160A>G (p.Glu387Gly) c.1778A>G (p.Glu593Gly) c.557A>G (p.Glu186Gly) c.92-3690A>G (n.92-3690A>G) | |
2 | g.237381034T>G | CA351216879 | COL6A3 | c.1160A>C (p.Glu387Ala) c.1778A>C (p.Glu593Ala) c.557A>C (p.Glu186Ala) c.92-3690A>C (n.92-3690A>C) | |
2 | g.237381035C>A | CA351216883 | COL6A3 | c.1159G>T (p.Glu387Ter) c.1777G>T (p.Glu593Ter) c.556G>T (p.Glu186Ter) c.92-3691G>T (n.92-3691G>T) | |
2 | g.237381035C>G | CA351216886 | COL6A3 | c.1159G>C (p.Glu387Gln) c.1777G>C (p.Glu593Gln) c.556G>C (p.Glu186Gln) c.92-3691G>C (n.92-3691G>C) | gnomAD v4 |
2 | g.237381035C>T | CA351216889 | COL6A3 | c.1159G>A (p.Glu387Lys) c.1777G>A (p.Glu593Lys) c.556G>A (p.Glu186Lys) c.92-3691G>A (n.92-3691G>A) | ClinVar COSMIC COSMIC |
2 | g.237381036C>A | CA431712511 | COL6A3 | c.1158G>T (p.Leu386=) c.1776G>T (p.Leu592=) c.555G>T (p.Leu185=) c.92-3692G>T (n.92-3692G>T) | |
2 | g.237381036C= | CA1337627235 | COL6A3 | c.1158G= (p.Leu386=) c.1776G= (p.Leu592=) c.555G= (p.Leu185=) c.92-3692G= (n.92-3692G=) | |
2 | g.237381036C>G | CA431712512 | COL6A3 | c.1158G>C (p.Leu386=) c.1776G>C (p.Leu592=) c.555G>C (p.Leu185=) c.92-3692G>C (n.92-3692G>C) | |
2 | g.237381036C>T | CA2189561 | COL6A3 | c.1158G>A (p.Leu386=) c.1776G>A (p.Leu592=) c.555G>A (p.Leu185=) c.92-3692G>A (n.92-3692G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237381037A>C | CA351216892 | COL6A3 | c.1157T>G (p.Leu386Arg) c.1775T>G (p.Leu592Arg) c.554T>G (p.Leu185Arg) c.92-3693T>G (n.92-3693T>G) | |
2 | g.237381037A>G | CA351216893 | COL6A3 | c.1157T>C (p.Leu386Pro) c.1775T>C (p.Leu592Pro) c.554T>C (p.Leu185Pro) c.92-3693T>C (n.92-3693T>C) | |
2 | g.237381037A>T | CA351216894 | COL6A3 | c.1157T>A (p.Leu386Gln) c.1775T>A (p.Leu592Gln) c.554T>A (p.Leu185Gln) c.92-3693T>A (n.92-3693T>A) | |
2 | g.237381038G>A | CA431712514 | COL6A3 | c.1156C>T (p.Leu386=) c.1774C>T (p.Leu592=) c.553C>T (p.Leu185=) c.92-3694C>T (n.92-3694C>T) | dbSNP gnomAD v4 |
2 | g.237381038G>C | CA351216895 | COL6A3 | c.1156C>G (p.Leu386Val) c.1774C>G (p.Leu592Val) c.553C>G (p.Leu185Val) c.92-3694C>G (n.92-3694C>G) | |
2 | g.237381038G= | CA1337627236 | COL6A3 | c.1156C= (p.Leu386=) c.1774C= (p.Leu592=) c.553C= (p.Leu185=) c.92-3694C= (n.92-3694C=) | |
2 | g.237381038G>T | CA351216897 | COL6A3 | c.1156C>A (p.Leu386Met) c.1774C>A (p.Leu592Met) c.553C>A (p.Leu185Met) c.92-3694C>A (n.92-3694C>A) | |
2 | g.237381039C>A | CA351216898 | COL6A3 | c.1155G>T (p.Glu385Asp) c.1773G>T (p.Glu591Asp) c.552G>T (p.Glu184Asp) c.92-3695G>T (n.92-3695G>T) | gnomAD v4 |
2 | g.237381039C>G | CA351216905 | COL6A3 | c.1155G>C (p.Glu385Asp) c.1773G>C (p.Glu591Asp) c.552G>C (p.Glu184Asp) c.92-3695G>C (n.92-3695G>C) | |
2 | g.237381039C>T | CA431712516 | COL6A3 | c.1155G>A (p.Glu385=) c.1773G>A (p.Glu591=) c.552G>A (p.Glu184=) c.92-3695G>A (n.92-3695G>A) |