Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237334582C>A | CA1337606355 | COL6A3 | c.1611-1034G>T c.8611+44G>T (n.8611+44G>T) c.1356+44G>T c.97+44G>T (n.97+44G>T) c.9229+44G>T (n.9229+44G>T) c.7405+44G>T (n.7405+44G>T) c.7408+44G>T (n.7408+44G>T) n.5671+44G>T n.161+44G>T c.8629+44G>T (n.8629+44G>T) c.8008+44G>T (n.8008+44G>T) c.8728+44G>T (n.8728+44G>T) c.9226+44G>T (n.9226+44G>T) c.6823+44G>T (n.6823+44G>T) | dbSNP gnomAD v4 |
2 | g.237334582C= | CA1337606354 | COL6A3 | c.1611-1034G= c.8611+44G= (n.8611+44G=) c.1356+44G= c.97+44G= (n.97+44G=) c.9229+44G= (n.9229+44G=) c.7405+44G= (n.7405+44G=) c.7408+44G= (n.7408+44G=) n.5671+44G= n.161+44G= c.8629+44G= (n.8629+44G=) c.8008+44G= (n.8008+44G=) c.8728+44G= (n.8728+44G=) c.9226+44G= (n.9226+44G=) c.6823+44G= (n.6823+44G=) | |
2 | g.237334582C>G | CA2187322 | COL6A3 | c.1611-1034G>C c.8611+44G>C (n.8611+44G>C) c.1356+44G>C c.97+44G>C (n.97+44G>C) c.9229+44G>C (n.9229+44G>C) c.7405+44G>C (n.7405+44G>C) c.7408+44G>C (n.7408+44G>C) n.5671+44G>C n.161+44G>C c.8629+44G>C (n.8629+44G>C) c.8008+44G>C (n.8008+44G>C) c.8728+44G>C (n.8728+44G>C) c.9226+44G>C (n.9226+44G>C) c.6823+44G>C (n.6823+44G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334582C>T | CA2663791811 | COL6A3 | c.1611-1034G>A c.8611+44G>A (n.8611+44G>A) c.1356+44G>A c.97+44G>A (n.97+44G>A) c.9229+44G>A (n.9229+44G>A) c.7405+44G>A (n.7405+44G>A) c.7408+44G>A (n.7408+44G>A) n.5671+44G>A n.161+44G>A c.8629+44G>A (n.8629+44G>A) c.8008+44G>A (n.8008+44G>A) c.8728+44G>A (n.8728+44G>A) c.9226+44G>A (n.9226+44G>A) c.6823+44G>A (n.6823+44G>A) | gnomAD v4 |
2 | g.237334586A= | CA1337606356 | COL6A3 | c.1611-1038T= c.8611+40T= (n.8611+40T=) c.1356+40T= c.97+40T= (n.97+40T=) c.9229+40T= (n.9229+40T=) c.7405+40T= (n.7405+40T=) c.7408+40T= (n.7408+40T=) n.5671+40T= n.161+40T= c.8629+40T= (n.8629+40T=) c.8008+40T= (n.8008+40T=) c.8728+40T= (n.8728+40T=) c.9226+40T= (n.9226+40T=) c.6823+40T= (n.6823+40T=) | |
2 | g.237334586A>G | CA2187323 | COL6A3 | c.1611-1038T>C c.8611+40T>C (n.8611+40T>C) c.1356+40T>C c.97+40T>C (n.97+40T>C) c.9229+40T>C (n.9229+40T>C) c.7405+40T>C (n.7405+40T>C) c.7408+40T>C (n.7408+40T>C) n.5671+40T>C n.161+40T>C c.8629+40T>C (n.8629+40T>C) c.8008+40T>C (n.8008+40T>C) c.8728+40T>C (n.8728+40T>C) c.9226+40T>C (n.9226+40T>C) c.6823+40T>C (n.6823+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334586A>T | CA766621476 | COL6A3 | c.1611-1038T>A c.8611+40T>A (n.8611+40T>A) c.1356+40T>A c.97+40T>A (n.97+40T>A) c.9229+40T>A (n.9229+40T>A) c.7405+40T>A (n.7405+40T>A) c.7408+40T>A (n.7408+40T>A) n.5671+40T>A n.161+40T>A c.8629+40T>A (n.8629+40T>A) c.8008+40T>A (n.8008+40T>A) c.8728+40T>A (n.8728+40T>A) c.9226+40T>A (n.9226+40T>A) c.6823+40T>A (n.6823+40T>A) | dbSNP |
2 | g.237334587T>A | CA2577289248 | COL6A3 | c.1611-1039A>T c.8611+39A>T (n.8611+39A>T) c.1356+39A>T c.97+39A>T (n.97+39A>T) c.9229+39A>T (n.9229+39A>T) c.7405+39A>T (n.7405+39A>T) c.7408+39A>T (n.7408+39A>T) n.5671+39A>T n.161+39A>T c.8629+39A>T (n.8629+39A>T) c.8008+39A>T (n.8008+39A>T) c.8728+39A>T (n.8728+39A>T) c.9226+39A>T (n.9226+39A>T) c.6823+39A>T (n.6823+39A>T) | gnomAD v4 |
2 | g.237334587T>C | CA540749756 | COL6A3 | c.1611-1039A>G c.8611+39A>G (n.8611+39A>G) c.1356+39A>G c.97+39A>G (n.97+39A>G) c.9229+39A>G (n.9229+39A>G) c.7405+39A>G (n.7405+39A>G) c.7408+39A>G (n.7408+39A>G) n.5671+39A>G n.161+39A>G c.8629+39A>G (n.8629+39A>G) c.8008+39A>G (n.8008+39A>G) c.8728+39A>G (n.8728+39A>G) c.9226+39A>G (n.9226+39A>G) c.6823+39A>G (n.6823+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334587T= | CA1337606357 | COL6A3 | c.1611-1039A= c.8611+39A= (n.8611+39A=) c.1356+39A= c.97+39A= (n.97+39A=) c.9229+39A= (n.9229+39A=) c.7405+39A= (n.7405+39A=) c.7408+39A= (n.7408+39A=) n.5671+39A= n.161+39A= c.8629+39A= (n.8629+39A=) c.8008+39A= (n.8008+39A=) c.8728+39A= (n.8728+39A=) c.9226+39A= (n.9226+39A=) c.6823+39A= (n.6823+39A=) | |
2 | g.237334588A= | CA1337606358 | COL6A3 | c.1611-1040T= c.8611+38T= (n.8611+38T=) c.1356+38T= c.97+38T= (n.97+38T=) c.9229+38T= (n.9229+38T=) c.7405+38T= (n.7405+38T=) c.7408+38T= (n.7408+38T=) n.5671+38T= n.161+38T= c.8629+38T= (n.8629+38T=) c.8008+38T= (n.8008+38T=) c.8728+38T= (n.8728+38T=) c.9226+38T= (n.9226+38T=) c.6823+38T= (n.6823+38T=) | |
2 | g.237334588A>G | CA2663791812 | COL6A3 | c.1611-1040T>C c.8611+38T>C (n.8611+38T>C) c.1356+38T>C c.97+38T>C (n.97+38T>C) c.9229+38T>C (n.9229+38T>C) c.7405+38T>C (n.7405+38T>C) c.7408+38T>C (n.7408+38T>C) n.5671+38T>C n.161+38T>C c.8629+38T>C (n.8629+38T>C) c.8008+38T>C (n.8008+38T>C) c.8728+38T>C (n.8728+38T>C) c.9226+38T>C (n.9226+38T>C) c.6823+38T>C (n.6823+38T>C) | gnomAD v4 |
2 | g.237334588A>T | CA766621484 | COL6A3 | c.1611-1040T>A c.8611+38T>A (n.8611+38T>A) c.1356+38T>A c.97+38T>A (n.97+38T>A) c.9229+38T>A (n.9229+38T>A) c.7405+38T>A (n.7405+38T>A) c.7408+38T>A (n.7408+38T>A) n.5671+38T>A n.161+38T>A c.8629+38T>A (n.8629+38T>A) c.8008+38T>A (n.8008+38T>A) c.8728+38T>A (n.8728+38T>A) c.9226+38T>A (n.9226+38T>A) c.6823+38T>A (n.6823+38T>A) | dbSNP |
2 | g.237334592del | CA2577289249 | COL6A3 | c.1611-1042del c.8611+36del (n.8611+36del) c.1356+36del c.97+36del (n.97+36del) c.9229+36del (n.9229+36del) c.7405+36del (n.7405+36del) c.7408+36del (n.7408+36del) n.5671+36del n.161+36del c.8629+36del (n.8629+36del) c.8008+36del (n.8008+36del) c.8728+36del (n.8728+36del) c.9226+36del (n.9226+36del) c.6823+36del (n.6823+36del) | |
2 | g.237334595A= | CA1337606359 | COL6A3 | c.1611-1047T= c.8611+31T= (n.8611+31T=) c.1356+31T= c.97+31T= (n.97+31T=) c.9229+31T= (n.9229+31T=) c.7405+31T= (n.7405+31T=) c.7408+31T= (n.7408+31T=) n.5671+31T= n.161+31T= c.8629+31T= (n.8629+31T=) c.8008+31T= (n.8008+31T=) c.8728+31T= (n.8728+31T=) c.9226+31T= (n.9226+31T=) c.6823+31T= (n.6823+31T=) | |
2 | g.237334595A>C | CA2577289250 | COL6A3 | c.1611-1047T>G c.8611+31T>G (n.8611+31T>G) c.1356+31T>G c.97+31T>G (n.97+31T>G) c.9229+31T>G (n.9229+31T>G) c.7405+31T>G (n.7405+31T>G) c.7408+31T>G (n.7408+31T>G) n.5671+31T>G n.161+31T>G c.8629+31T>G (n.8629+31T>G) c.8008+31T>G (n.8008+31T>G) c.8728+31T>G (n.8728+31T>G) c.9226+31T>G (n.9226+31T>G) c.6823+31T>G (n.6823+31T>G) | gnomAD v4 |
2 | g.237334595A>G | CA540749757 | COL6A3 | c.1611-1047T>C c.8611+31T>C (n.8611+31T>C) c.1356+31T>C c.97+31T>C (n.97+31T>C) c.9229+31T>C (n.9229+31T>C) c.7405+31T>C (n.7405+31T>C) c.7408+31T>C (n.7408+31T>C) n.5671+31T>C n.161+31T>C c.8629+31T>C (n.8629+31T>C) c.8008+31T>C (n.8008+31T>C) c.8728+31T>C (n.8728+31T>C) c.9226+31T>C (n.9226+31T>C) c.6823+31T>C (n.6823+31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334596G>A | CA2663791813 | COL6A3 | c.1611-1048C>T c.8611+30C>T (n.8611+30C>T) c.1356+30C>T c.97+30C>T (n.97+30C>T) c.9229+30C>T (n.9229+30C>T) c.7405+30C>T (n.7405+30C>T) c.7408+30C>T (n.7408+30C>T) n.5671+30C>T n.161+30C>T c.8629+30C>T (n.8629+30C>T) c.8008+30C>T (n.8008+30C>T) c.8728+30C>T (n.8728+30C>T) c.9226+30C>T (n.9226+30C>T) c.6823+30C>T (n.6823+30C>T) | gnomAD v4 |
2 | g.237334596G>C | CA766621491 | COL6A3 | c.1611-1048C>G c.8611+30C>G (n.8611+30C>G) c.1356+30C>G c.97+30C>G (n.97+30C>G) c.9229+30C>G (n.9229+30C>G) c.7405+30C>G (n.7405+30C>G) c.7408+30C>G (n.7408+30C>G) n.5671+30C>G n.161+30C>G c.8629+30C>G (n.8629+30C>G) c.8008+30C>G (n.8008+30C>G) c.8728+30C>G (n.8728+30C>G) c.9226+30C>G (n.9226+30C>G) c.6823+30C>G (n.6823+30C>G) | dbSNP gnomAD v4 |
2 | g.237334596G= | CA1337606360 | COL6A3 | c.1611-1048C= c.8611+30C= (n.8611+30C=) c.1356+30C= c.97+30C= (n.97+30C=) c.9229+30C= (n.9229+30C=) c.7405+30C= (n.7405+30C=) c.7408+30C= (n.7408+30C=) n.5671+30C= n.161+30C= c.8629+30C= (n.8629+30C=) c.8008+30C= (n.8008+30C=) c.8728+30C= (n.8728+30C=) c.9226+30C= (n.9226+30C=) c.6823+30C= (n.6823+30C=) | |
2 | g.237334597G>A | CA2577289251 | COL6A3 | c.1611-1049C>T c.8611+29C>T (n.8611+29C>T) c.1356+29C>T c.97+29C>T (n.97+29C>T) c.9229+29C>T (n.9229+29C>T) c.7405+29C>T (n.7405+29C>T) c.7408+29C>T (n.7408+29C>T) n.5671+29C>T n.161+29C>T c.8629+29C>T (n.8629+29C>T) c.8008+29C>T (n.8008+29C>T) c.8728+29C>T (n.8728+29C>T) c.9226+29C>T (n.9226+29C>T) c.6823+29C>T (n.6823+29C>T) | gnomAD v4 |
2 | g.237334597G>C | CA2754786567 | COL6A3 | c.1611-1049C>G c.8611+29C>G (n.8611+29C>G) c.1356+29C>G c.97+29C>G (n.97+29C>G) c.9229+29C>G (n.9229+29C>G) c.7405+29C>G (n.7405+29C>G) c.7408+29C>G (n.7408+29C>G) n.5671+29C>G n.161+29C>G c.8629+29C>G (n.8629+29C>G) c.8008+29C>G (n.8008+29C>G) c.8728+29C>G (n.8728+29C>G) c.9226+29C>G (n.9226+29C>G) c.6823+29C>G (n.6823+29C>G) | |
2 | g.237334597G= | CA1337606361 | COL6A3 | c.1611-1049C= c.8611+29C= (n.8611+29C=) c.1356+29C= c.97+29C= (n.97+29C=) c.9229+29C= (n.9229+29C=) c.7405+29C= (n.7405+29C=) c.7408+29C= (n.7408+29C=) n.5671+29C= n.161+29C= c.8629+29C= (n.8629+29C=) c.8008+29C= (n.8008+29C=) c.8728+29C= (n.8728+29C=) c.9226+29C= (n.9226+29C=) c.6823+29C= (n.6823+29C=) | |
2 | g.237334598T>C | CA1043805238 | COL6A3 | c.1611-1050A>G c.8611+28A>G (n.8611+28A>G) c.1356+28A>G c.97+28A>G (n.97+28A>G) c.9229+28A>G (n.9229+28A>G) c.7405+28A>G (n.7405+28A>G) c.7408+28A>G (n.7408+28A>G) n.5671+28A>G n.161+28A>G c.8629+28A>G (n.8629+28A>G) c.8008+28A>G (n.8008+28A>G) c.8728+28A>G (n.8728+28A>G) c.9226+28A>G (n.9226+28A>G) c.6823+28A>G (n.6823+28A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334598T= | CA1337606362 | COL6A3 | c.1611-1050A= c.8611+28A= (n.8611+28A=) c.1356+28A= c.97+28A= (n.97+28A=) c.9229+28A= (n.9229+28A=) c.7405+28A= (n.7405+28A=) c.7408+28A= (n.7408+28A=) n.5671+28A= n.161+28A= c.8629+28A= (n.8629+28A=) c.8008+28A= (n.8008+28A=) c.8728+28A= (n.8728+28A=) c.9226+28A= (n.9226+28A=) c.6823+28A= (n.6823+28A=) | |
2 | g.237334598_237334599dup | CA540749758 | COL6A3 | c.1611-1051_1611-1050dup c.8611+27_8611+28dup (n.8611+27_8611+28dup) c.1356+27_1356+28dup c.97+27_97+28dup (n.97+27_97+28dup) c.9229+27_9229+28dup (n.9229+27_9229+28dup) c.7405+27_7405+28dup (n.7405+27_7405+28dup) c.7408+27_7408+28dup (n.7408+27_7408+28dup) n.5671+27_5671+28dup n.161+27_161+28dup c.8629+27_8629+28dup (n.8629+27_8629+28dup) c.8008+27_8008+28dup (n.8008+27_8008+28dup) c.8728+27_8728+28dup (n.8728+27_8728+28dup) c.9226+27_9226+28dup (n.9226+27_9226+28dup) c.6823+27_6823+28dup (n.6823+27_6823+28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334599A= | CA1337606363 | COL6A3 | c.1611-1051T= c.8611+27T= (n.8611+27T=) c.1356+27T= c.97+27T= (n.97+27T=) c.9229+27T= (n.9229+27T=) c.7405+27T= (n.7405+27T=) c.7408+27T= (n.7408+27T=) n.5671+27T= n.161+27T= c.8629+27T= (n.8629+27T=) c.8008+27T= (n.8008+27T=) c.8728+27T= (n.8728+27T=) c.9226+27T= (n.9226+27T=) c.6823+27T= (n.6823+27T=) | |
2 | g.237334599A>C | CA540749759 | COL6A3 | c.1611-1051T>G c.8611+27T>G (n.8611+27T>G) c.1356+27T>G c.97+27T>G (n.97+27T>G) c.9229+27T>G (n.9229+27T>G) c.7405+27T>G (n.7405+27T>G) c.7408+27T>G (n.7408+27T>G) n.5671+27T>G n.161+27T>G c.8629+27T>G (n.8629+27T>G) c.8008+27T>G (n.8008+27T>G) c.8728+27T>G (n.8728+27T>G) c.9226+27T>G (n.9226+27T>G) c.6823+27T>G (n.6823+27T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334600C= | CA1337606364 | COL6A3 | c.1611-1052G= c.8611+26G= (n.8611+26G=) c.1356+26G= c.97+26G= (n.97+26G=) c.9229+26G= (n.9229+26G=) c.7405+26G= (n.7405+26G=) c.7408+26G= (n.7408+26G=) n.5671+26G= n.161+26G= c.8629+26G= (n.8629+26G=) c.8008+26G= (n.8008+26G=) c.8728+26G= (n.8728+26G=) c.9226+26G= (n.9226+26G=) c.6823+26G= (n.6823+26G=) | |
2 | g.237334600C>T | CA2187324 | COL6A3 | c.1611-1052G>A c.8611+26G>A (n.8611+26G>A) c.1356+26G>A c.97+26G>A (n.97+26G>A) c.9229+26G>A (n.9229+26G>A) c.7405+26G>A (n.7405+26G>A) c.7408+26G>A (n.7408+26G>A) n.5671+26G>A n.161+26G>A c.8629+26G>A (n.8629+26G>A) c.8008+26G>A (n.8008+26G>A) c.8728+26G>A (n.8728+26G>A) c.9226+26G>A (n.9226+26G>A) c.6823+26G>A (n.6823+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334601C>A | CA2663791814 | COL6A3 | c.1611-1053G>T c.8611+25G>T (n.8611+25G>T) c.1356+25G>T c.97+25G>T (n.97+25G>T) c.9229+25G>T (n.9229+25G>T) c.7405+25G>T (n.7405+25G>T) c.7408+25G>T (n.7408+25G>T) n.5671+25G>T n.161+25G>T c.8629+25G>T (n.8629+25G>T) c.8008+25G>T (n.8008+25G>T) c.8728+25G>T (n.8728+25G>T) c.9226+25G>T (n.9226+25G>T) c.6823+25G>T (n.6823+25G>T) | gnomAD v4 |
2 | g.237334601C= | CA1337606365 | COL6A3 | c.1611-1053G= c.8611+25G= (n.8611+25G=) c.1356+25G= c.97+25G= (n.97+25G=) c.9229+25G= (n.9229+25G=) c.7405+25G= (n.7405+25G=) c.7408+25G= (n.7408+25G=) n.5671+25G= n.161+25G= c.8629+25G= (n.8629+25G=) c.8008+25G= (n.8008+25G=) c.8728+25G= (n.8728+25G=) c.9226+25G= (n.9226+25G=) c.6823+25G= (n.6823+25G=) | |
2 | g.237334601C>T | CA540749760 | COL6A3 | c.1611-1053G>A c.8611+25G>A (n.8611+25G>A) c.1356+25G>A c.97+25G>A (n.97+25G>A) c.9229+25G>A (n.9229+25G>A) c.7405+25G>A (n.7405+25G>A) c.7408+25G>A (n.7408+25G>A) n.5671+25G>A n.161+25G>A c.8629+25G>A (n.8629+25G>A) c.8008+25G>A (n.8008+25G>A) c.8728+25G>A (n.8728+25G>A) c.9226+25G>A (n.9226+25G>A) c.6823+25G>A (n.6823+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334602G>A | CA2187325 | COL6A3 | c.1611-1054C>T c.8611+24C>T (n.8611+24C>T) c.1356+24C>T c.97+24C>T (n.97+24C>T) c.9229+24C>T (n.9229+24C>T) c.7405+24C>T (n.7405+24C>T) c.7408+24C>T (n.7408+24C>T) n.5671+24C>T n.161+24C>T c.8629+24C>T (n.8629+24C>T) c.8008+24C>T (n.8008+24C>T) c.8728+24C>T (n.8728+24C>T) c.9226+24C>T (n.9226+24C>T) c.6823+24C>T (n.6823+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334602G= | CA1337606366 | COL6A3 | c.1611-1054C= c.8611+24C= (n.8611+24C=) c.1356+24C= c.97+24C= (n.97+24C=) c.9229+24C= (n.9229+24C=) c.7405+24C= (n.7405+24C=) c.7408+24C= (n.7408+24C=) n.5671+24C= n.161+24C= c.8629+24C= (n.8629+24C=) c.8008+24C= (n.8008+24C=) c.8728+24C= (n.8728+24C=) c.9226+24C= (n.9226+24C=) c.6823+24C= (n.6823+24C=) | |
2 | g.237334602G>T | CA2663791815 | COL6A3 | c.1611-1054C>A c.8611+24C>A (n.8611+24C>A) c.1356+24C>A c.97+24C>A (n.97+24C>A) c.9229+24C>A (n.9229+24C>A) c.7405+24C>A (n.7405+24C>A) c.7408+24C>A (n.7408+24C>A) n.5671+24C>A n.161+24C>A c.8629+24C>A (n.8629+24C>A) c.8008+24C>A (n.8008+24C>A) c.8728+24C>A (n.8728+24C>A) c.9226+24C>A (n.9226+24C>A) c.6823+24C>A (n.6823+24C>A) | gnomAD v4 |
2 | g.237334604C>T | CA2663791816 | COL6A3 | c.1611-1056G>A c.8611+22G>A (n.8611+22G>A) c.1356+22G>A c.97+22G>A (n.97+22G>A) c.9229+22G>A (n.9229+22G>A) c.7405+22G>A (n.7405+22G>A) c.7408+22G>A (n.7408+22G>A) n.5671+22G>A n.161+22G>A c.8629+22G>A (n.8629+22G>A) c.8008+22G>A (n.8008+22G>A) c.8728+22G>A (n.8728+22G>A) c.9226+22G>A (n.9226+22G>A) c.6823+22G>A (n.6823+22G>A) | gnomAD v4 |
2 | g.237334606T>C | CA2754786570 | COL6A3 | c.1611-1058A>G c.8611+20A>G (n.8611+20A>G) c.1356+20A>G c.97+20A>G (n.97+20A>G) c.9229+20A>G (n.9229+20A>G) c.7405+20A>G (n.7405+20A>G) c.7408+20A>G (n.7408+20A>G) n.5671+20A>G n.161+20A>G c.8629+20A>G (n.8629+20A>G) c.8008+20A>G (n.8008+20A>G) c.8728+20A>G (n.8728+20A>G) c.9226+20A>G (n.9226+20A>G) c.6823+20A>G (n.6823+20A>G) | |
2 | g.237334612G>A | CA540749761 | COL6A3 | c.1611-1064C>T c.8611+14C>T (n.8611+14C>T) c.1356+14C>T c.97+14C>T (n.97+14C>T) c.9229+14C>T (n.9229+14C>T) c.7405+14C>T (n.7405+14C>T) c.7408+14C>T (n.7408+14C>T) n.5671+14C>T n.161+14C>T c.8629+14C>T (n.8629+14C>T) c.8008+14C>T (n.8008+14C>T) c.8728+14C>T (n.8728+14C>T) c.9226+14C>T (n.9226+14C>T) c.6823+14C>T (n.6823+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334612G>C | CA1337606368 | COL6A3 | c.1611-1064C>G c.8611+14C>G (n.8611+14C>G) c.1356+14C>G c.97+14C>G (n.97+14C>G) c.9229+14C>G (n.9229+14C>G) c.7405+14C>G (n.7405+14C>G) c.7408+14C>G (n.7408+14C>G) n.5671+14C>G n.161+14C>G c.8629+14C>G (n.8629+14C>G) c.8008+14C>G (n.8008+14C>G) c.8728+14C>G (n.8728+14C>G) c.9226+14C>G (n.9226+14C>G) c.6823+14C>G (n.6823+14C>G) | dbSNP gnomAD v4 |
2 | g.237334612G= | CA1337606367 | COL6A3 | c.1611-1064C= c.8611+14C= (n.8611+14C=) c.1356+14C= c.97+14C= (n.97+14C=) c.9229+14C= (n.9229+14C=) c.7405+14C= (n.7405+14C=) c.7408+14C= (n.7408+14C=) n.5671+14C= n.161+14C= c.8629+14C= (n.8629+14C=) c.8008+14C= (n.8008+14C=) c.8728+14C= (n.8728+14C=) c.9226+14C= (n.9226+14C=) c.6823+14C= (n.6823+14C=) | |
2 | g.237334612G>T | CA2663791817 | COL6A3 | c.1611-1064C>A c.8611+14C>A (n.8611+14C>A) c.1356+14C>A c.97+14C>A (n.97+14C>A) c.9229+14C>A (n.9229+14C>A) c.7405+14C>A (n.7405+14C>A) c.7408+14C>A (n.7408+14C>A) n.5671+14C>A n.161+14C>A c.8629+14C>A (n.8629+14C>A) c.8008+14C>A (n.8008+14C>A) c.8728+14C>A (n.8728+14C>A) c.9226+14C>A (n.9226+14C>A) c.6823+14C>A (n.6823+14C>A) | gnomAD v4 |
2 | g.237334614T>C | CA2754786573 | COL6A3 | c.1611-1066A>G c.8611+12A>G (n.8611+12A>G) c.1356+12A>G c.97+12A>G (n.97+12A>G) c.9229+12A>G (n.9229+12A>G) c.7405+12A>G (n.7405+12A>G) c.7408+12A>G (n.7408+12A>G) n.5671+12A>G n.161+12A>G c.8629+12A>G (n.8629+12A>G) c.8008+12A>G (n.8008+12A>G) c.8728+12A>G (n.8728+12A>G) c.9226+12A>G (n.9226+12A>G) c.6823+12A>G (n.6823+12A>G) | |
2 | g.237334614T>G | CA540749762 | COL6A3 | c.1611-1066A>C c.8611+12A>C (n.8611+12A>C) c.1356+12A>C c.97+12A>C (n.97+12A>C) c.9229+12A>C (n.9229+12A>C) c.7405+12A>C (n.7405+12A>C) c.7408+12A>C (n.7408+12A>C) n.5671+12A>C n.161+12A>C c.8629+12A>C (n.8629+12A>C) c.8008+12A>C (n.8008+12A>C) c.8728+12A>C (n.8728+12A>C) c.9226+12A>C (n.9226+12A>C) c.6823+12A>C (n.6823+12A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334614T= | CA1337606369 | COL6A3 | c.1611-1066A= c.8611+12A= (n.8611+12A=) c.1356+12A= c.97+12A= (n.97+12A=) c.9229+12A= (n.9229+12A=) c.7405+12A= (n.7405+12A=) c.7408+12A= (n.7408+12A=) n.5671+12A= n.161+12A= c.8629+12A= (n.8629+12A=) c.8008+12A= (n.8008+12A=) c.8728+12A= (n.8728+12A=) c.9226+12A= (n.9226+12A=) c.6823+12A= (n.6823+12A=) | |
2 | g.237334615C>T | CA2577289252 | COL6A3 | c.1611-1067G>A c.8611+11G>A (n.8611+11G>A) c.1356+11G>A c.97+11G>A (n.97+11G>A) c.9229+11G>A (n.9229+11G>A) c.7405+11G>A (n.7405+11G>A) c.7408+11G>A (n.7408+11G>A) n.5671+11G>A n.161+11G>A c.8629+11G>A (n.8629+11G>A) c.8008+11G>A (n.8008+11G>A) c.8728+11G>A (n.8728+11G>A) c.9226+11G>A (n.9226+11G>A) c.6823+11G>A (n.6823+11G>A) | gnomAD v4 |
2 | g.237334617T>G | CA1043805248 | COL6A3 | c.1611-1069A>C c.8611+9A>C (n.8611+9A>C) c.1356+9A>C c.97+9A>C (n.97+9A>C) c.9229+9A>C (n.9229+9A>C) c.7405+9A>C (n.7405+9A>C) c.7408+9A>C (n.7408+9A>C) n.5671+9A>C n.161+9A>C c.8629+9A>C (n.8629+9A>C) c.8008+9A>C (n.8008+9A>C) c.8728+9A>C (n.8728+9A>C) c.9226+9A>C (n.9226+9A>C) c.6823+9A>C (n.6823+9A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237334617T= | CA1337606370 | COL6A3 | c.1611-1069A= c.8611+9A= (n.8611+9A=) c.1356+9A= c.97+9A= (n.97+9A=) c.9229+9A= (n.9229+9A=) c.7405+9A= (n.7405+9A=) c.7408+9A= (n.7408+9A=) n.5671+9A= n.161+9A= c.8629+9A= (n.8629+9A=) c.8008+9A= (n.8008+9A=) c.8728+9A= (n.8728+9A=) c.9226+9A= (n.9226+9A=) c.6823+9A= (n.6823+9A=) | |
2 | g.237334624_237334627del | CA2580614114 | COL6A3 | c.1611-1074_1611-1071del c.8611+4_8611+7del c.1356+4_1356+7del c.97+4_97+7del c.9229+4_9229+7del c.7405+4_7405+7del c.7408+4_7408+7del n.5671+4_5671+7del n.161+4_161+7del c.8629+4_8629+7del c.8008+4_8008+7del c.8728+4_8728+7del c.9226+4_9226+7del c.6823+4_6823+7del | ClinVar |
2 | g.237334622T>G | CA2187326 | COL6A3 | c.1611-1074A>C c.8611+4A>C (n.8611+4A>C) c.1356+4A>C c.97+4A>C (n.97+4A>C) c.9229+4A>C (n.9229+4A>C) c.7405+4A>C (n.7405+4A>C) c.7408+4A>C (n.7408+4A>C) n.5671+4A>C n.161+4A>C c.8629+4A>C (n.8629+4A>C) c.8008+4A>C (n.8008+4A>C) c.8728+4A>C (n.8728+4A>C) c.9226+4A>C (n.9226+4A>C) c.6823+4A>C (n.6823+4A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334622T= | CA1337606371 | COL6A3 | c.1611-1074A= c.8611+4A= (n.8611+4A=) c.1356+4A= c.97+4A= (n.97+4A=) c.9229+4A= (n.9229+4A=) c.7405+4A= (n.7405+4A=) c.7408+4A= (n.7408+4A=) n.5671+4A= n.161+4A= c.8629+4A= (n.8629+4A=) c.8008+4A= (n.8008+4A=) c.8728+4A= (n.8728+4A=) c.9226+4A= (n.9226+4A=) c.6823+4A= (n.6823+4A=) | |
2 | g.237334623T>C | CA2663791818 | COL6A3 | c.1611-1075A>G c.8611+3A>G (n.8611+3A>G) c.1356+3A>G c.97+3A>G (n.97+3A>G) c.9229+3A>G (n.9229+3A>G) c.7405+3A>G (n.7405+3A>G) c.7408+3A>G (n.7408+3A>G) n.5671+3A>G n.161+3A>G c.8629+3A>G (n.8629+3A>G) c.8008+3A>G (n.8008+3A>G) c.8728+3A>G (n.8728+3A>G) c.9226+3A>G (n.9226+3A>G) c.6823+3A>G (n.6823+3A>G) | gnomAD v4 |
2 | g.237334624A= | CA1337606372 | COL6A3 | c.1611-1076T= c.8611+2T= (n.8611+2T=) c.1356+2T= c.97+2T= (n.97+2T=) c.9229+2T= (n.9229+2T=) c.7405+2T= (n.7405+2T=) c.7408+2T= (n.7408+2T=) n.5671+2T= n.161+2T= c.8629+2T= (n.8629+2T=) c.8008+2T= (n.8008+2T=) c.8728+2T= (n.8728+2T=) c.9226+2T= (n.9226+2T=) c.6823+2T= (n.6823+2T=) | |
2 | g.237334624A>C | CA67829352 | COL6A3 | c.1611-1076T>G c.8611+2T>G (n.8611+2T>G) c.1356+2T>G c.97+2T>G (n.97+2T>G) c.9229+2T>G (n.9229+2T>G) c.7405+2T>G (n.7405+2T>G) c.7408+2T>G (n.7408+2T>G) n.5671+2T>G n.161+2T>G c.8629+2T>G (n.8629+2T>G) c.8008+2T>G (n.8008+2T>G) c.8728+2T>G (n.8728+2T>G) c.9226+2T>G (n.9226+2T>G) c.6823+2T>G (n.6823+2T>G) | dbSNP |
2 | g.237334624A>G | CA351187929 | COL6A3 | c.1611-1076T>C c.8611+2T>C (n.8611+2T>C) c.1356+2T>C c.97+2T>C (n.97+2T>C) c.9229+2T>C (n.9229+2T>C) c.7405+2T>C (n.7405+2T>C) c.7408+2T>C (n.7408+2T>C) n.5671+2T>C n.161+2T>C c.8629+2T>C (n.8629+2T>C) c.8008+2T>C (n.8008+2T>C) c.8728+2T>C (n.8728+2T>C) c.9226+2T>C (n.9226+2T>C) c.6823+2T>C (n.6823+2T>C) | |
2 | g.237334624A>T | CA351187931 | COL6A3 | c.1611-1076T>A c.8611+2T>A (n.8611+2T>A) c.1356+2T>A c.97+2T>A (n.97+2T>A) c.9229+2T>A (n.9229+2T>A) c.7405+2T>A (n.7405+2T>A) c.7408+2T>A (n.7408+2T>A) n.5671+2T>A n.161+2T>A c.8629+2T>A (n.8629+2T>A) c.8008+2T>A (n.8008+2T>A) c.8728+2T>A (n.8728+2T>A) c.9226+2T>A (n.9226+2T>A) c.6823+2T>A (n.6823+2T>A) | |
2 | g.237334625C>A | CA351187934 | COL6A3 | c.1611-1077G>T c.8611+1G>T (n.8611+1G>T) c.1356+1G>T c.97+1G>T (n.97+1G>T) c.9229+1G>T (n.9229+1G>T) c.7405+1G>T (n.7405+1G>T) c.7408+1G>T (n.7408+1G>T) n.5671+1G>T n.161+1G>T c.8629+1G>T (n.8629+1G>T) c.8008+1G>T (n.8008+1G>T) c.8728+1G>T (n.8728+1G>T) c.9226+1G>T (n.9226+1G>T) c.6823+1G>T (n.6823+1G>T) | |
2 | g.237334625C= | CA1337606373 | COL6A3 | c.1611-1077G= c.8611+1G= (n.8611+1G=) c.1356+1G= c.97+1G= (n.97+1G=) c.9229+1G= (n.9229+1G=) c.7405+1G= (n.7405+1G=) c.7408+1G= (n.7408+1G=) n.5671+1G= n.161+1G= c.8629+1G= (n.8629+1G=) c.8008+1G= (n.8008+1G=) c.8728+1G= (n.8728+1G=) c.9226+1G= (n.9226+1G=) c.6823+1G= (n.6823+1G=) | |
2 | g.237334625C>G | CA351187936 | COL6A3 | c.1611-1077G>C c.8611+1G>C (n.8611+1G>C) c.1356+1G>C c.97+1G>C (n.97+1G>C) c.9229+1G>C (n.9229+1G>C) c.7405+1G>C (n.7405+1G>C) c.7408+1G>C (n.7408+1G>C) n.5671+1G>C n.161+1G>C c.8629+1G>C (n.8629+1G>C) c.8008+1G>C (n.8008+1G>C) c.8728+1G>C (n.8728+1G>C) c.9226+1G>C (n.9226+1G>C) c.6823+1G>C (n.6823+1G>C) | |
2 | g.237334625C>T | CA67829356 | COL6A3 | c.1611-1077G>A c.8611+1G>A (n.8611+1G>A) c.1356+1G>A c.97+1G>A (n.97+1G>A) c.9229+1G>A (n.9229+1G>A) c.7405+1G>A (n.7405+1G>A) c.7408+1G>A (n.7408+1G>A) n.5671+1G>A n.161+1G>A c.8629+1G>A (n.8629+1G>A) c.8008+1G>A (n.8008+1G>A) c.8728+1G>A (n.8728+1G>A) c.9226+1G>A (n.9226+1G>A) c.6823+1G>A (n.6823+1G>A) | dbSNP |
2 | g.237334626T>A | CA351187938 | COL6A3 | c.1611-1078A>T c.8611A>T (p.Lys2871Ter) c.1356A>T c.97A>T (p.Lys33Ter) c.9229A>T (p.Lys3077Ter) c.7405A>T (p.Lys2469Ter) c.7408A>T (p.Lys2470Ter) n.5671A>T n.161A>T c.8629A>T (p.Lys2877Ter) c.8008A>T (p.Lys2670Ter) c.8728A>T (p.Lys2910Ter) c.9226A>T (p.Lys3076Ter) c.6823A>T (p.Lys2275Ter) | |
2 | g.237334626T>C | CA351187940 | COL6A3 | c.1611-1078A>G c.8611A>G (p.Lys2871Glu) c.1356A>G c.97A>G (p.Lys33Glu) c.9229A>G (p.Lys3077Glu) c.7405A>G (p.Lys2469Glu) c.7408A>G (p.Lys2470Glu) n.5671A>G n.161A>G c.8629A>G (p.Lys2877Glu) c.8008A>G (p.Lys2670Glu) c.8728A>G (p.Lys2910Glu) c.9226A>G (p.Lys3076Glu) c.6823A>G (p.Lys2275Glu) | gnomAD v4 |
2 | g.237334626T>G | CA351187941 | COL6A3 | c.1611-1078A>C c.8611A>C (p.Lys2871Gln) c.1356A>C c.97A>C (p.Lys33Gln) c.9229A>C (p.Lys3077Gln) c.7405A>C (p.Lys2469Gln) c.7408A>C (p.Lys2470Gln) n.5671A>C n.161A>C c.8629A>C (p.Lys2877Gln) c.8008A>C (p.Lys2670Gln) c.8728A>C (p.Lys2910Gln) c.9226A>C (p.Lys3076Gln) c.6823A>C (p.Lys2275Gln) | |
2 | g.237334627T>A | CA431693352 | COL6A3 | c.1611-1079A>T c.8610A>T (p.Thr2870=) c.1355A>T c.96A>T (p.Thr32=) c.9228A>T (p.Thr3076=) c.7404A>T (p.Thr2468=) c.7407A>T (p.Thr2469=) n.5670A>T n.160A>T c.8628A>T (p.Thr2876=) c.8007A>T (p.Thr2669=) c.8727A>T (p.Thr2909=) c.9225A>T (p.Thr3075=) c.6822A>T (p.Thr2274=) | gnomAD v4 |
2 | g.237334627T>C | CA431693350 | COL6A3 | c.1611-1079A>G c.8610A>G (p.Thr2870=) c.1355A>G c.96A>G (p.Thr32=) c.9228A>G (p.Thr3076=) c.7404A>G (p.Thr2468=) c.7407A>G (p.Thr2469=) n.5670A>G n.160A>G c.8628A>G (p.Thr2876=) c.8007A>G (p.Thr2669=) c.8727A>G (p.Thr2909=) c.9225A>G (p.Thr3075=) c.6822A>G (p.Thr2274=) | |
2 | g.237334627T>G | CA431693351 | COL6A3 | c.1611-1079A>C c.8610A>C (p.Thr2870=) c.1355A>C c.96A>C (p.Thr32=) c.9228A>C (p.Thr3076=) c.7404A>C (p.Thr2468=) c.7407A>C (p.Thr2469=) n.5670A>C n.160A>C c.8628A>C (p.Thr2876=) c.8007A>C (p.Thr2669=) c.8727A>C (p.Thr2909=) c.9225A>C (p.Thr3075=) c.6822A>C (p.Thr2274=) | gnomAD v4 COSMIC |
2 | g.237334628G>A | CA351187943 | COL6A3 | c.1611-1080C>T c.8609C>T (p.Thr2870Ile) c.1354C>T c.95C>T (p.Thr32Ile) c.9227C>T (p.Thr3076Ile) c.7403C>T (p.Thr2468Ile) c.7406C>T (p.Thr2469Ile) n.5669C>T n.159C>T c.8627C>T (p.Thr2876Ile) c.8006C>T (p.Thr2669Ile) c.8726C>T (p.Thr2909Ile) c.9224C>T (p.Thr3075Ile) c.6821C>T (p.Thr2274Ile) | gnomAD v4 |
2 | g.237334628G>C | CA351187944 | COL6A3 | c.1611-1080C>G c.8609C>G (p.Thr2870Arg) c.1354C>G c.95C>G (p.Thr32Arg) c.9227C>G (p.Thr3076Arg) c.7403C>G (p.Thr2468Arg) c.7406C>G (p.Thr2469Arg) n.5669C>G n.159C>G c.8627C>G (p.Thr2876Arg) c.8006C>G (p.Thr2669Arg) c.8726C>G (p.Thr2909Arg) c.9224C>G (p.Thr3075Arg) c.6821C>G (p.Thr2274Arg) | |
2 | g.237334628G>T | CA351187946 | COL6A3 | c.1611-1080C>A c.8609C>A (p.Thr2870Lys) c.1354C>A c.95C>A (p.Thr32Lys) c.9227C>A (p.Thr3076Lys) c.7403C>A (p.Thr2468Lys) c.7406C>A (p.Thr2469Lys) n.5669C>A n.159C>A c.8627C>A (p.Thr2876Lys) c.8006C>A (p.Thr2669Lys) c.8726C>A (p.Thr2909Lys) c.9224C>A (p.Thr3075Lys) c.6821C>A (p.Thr2274Lys) | |
2 | g.237334629T>A | CA67829360 | COL6A3 | c.1611-1081A>T c.8608A>T (p.Thr2870Ser) c.1353A>T c.94A>T (p.Thr32Ser) c.9226A>T (p.Thr3076Ser) c.7402A>T (p.Thr2468Ser) c.7405A>T (p.Thr2469Ser) n.5668A>T n.158A>T c.8626A>T (p.Thr2876Ser) c.8005A>T (p.Thr2669Ser) c.8725A>T (p.Thr2909Ser) c.9223A>T (p.Thr3075Ser) c.6820A>T (p.Thr2274Ser) | dbSNP |
2 | g.237334629T>C | CA351187949 | COL6A3 | c.1611-1081A>G c.8608A>G (p.Thr2870Ala) c.1353A>G c.94A>G (p.Thr32Ala) c.9226A>G (p.Thr3076Ala) c.7402A>G (p.Thr2468Ala) c.7405A>G (p.Thr2469Ala) n.5668A>G n.158A>G c.8626A>G (p.Thr2876Ala) c.8005A>G (p.Thr2669Ala) c.8725A>G (p.Thr2909Ala) c.9223A>G (p.Thr3075Ala) c.6820A>G (p.Thr2274Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334629T>G | CA351187950 | COL6A3 | c.1611-1081A>C c.8608A>C (p.Thr2870Pro) c.1353A>C c.94A>C (p.Thr32Pro) c.9226A>C (p.Thr3076Pro) c.7402A>C (p.Thr2468Pro) c.7405A>C (p.Thr2469Pro) n.5668A>C n.158A>C c.8626A>C (p.Thr2876Pro) c.8005A>C (p.Thr2669Pro) c.8725A>C (p.Thr2909Pro) c.9223A>C (p.Thr3075Pro) c.6820A>C (p.Thr2274Pro) | |
2 | g.237334629T= | CA1337606374 | COL6A3 | c.1611-1081A= c.8608A= (p.Thr2870=) c.1353A= c.94A= (p.Thr32=) c.9226A= (p.Thr3076=) c.7402A= (p.Thr2468=) c.7405A= (p.Thr2469=) n.5668A= n.158A= c.8626A= (p.Thr2876=) c.8005A= (p.Thr2669=) c.8725A= (p.Thr2909=) c.9223A= (p.Thr3075=) c.6820A= (p.Thr2274=) | |
2 | g.237334630A>C | CA351187951 | COL6A3 | c.1611-1082T>G c.8607T>G (p.Ser2869Arg) c.1352T>G c.93T>G (p.Ser31Arg) c.9225T>G (p.Ser3075Arg) c.7401T>G (p.Ser2467Arg) c.7404T>G (p.Ser2468Arg) n.5667T>G n.157T>G c.8625T>G (p.Ser2875Arg) c.8004T>G (p.Ser2668Arg) c.8724T>G (p.Ser2908Arg) c.9222T>G (p.Ser3074Arg) c.6819T>G (p.Ser2273Arg) | |
2 | g.237334630A>G | CA431693353 | COL6A3 | c.1611-1082T>C c.8607T>C (p.Ser2869=) c.1352T>C c.93T>C (p.Ser31=) c.9225T>C (p.Ser3075=) c.7401T>C (p.Ser2467=) c.7404T>C (p.Ser2468=) n.5667T>C n.157T>C c.8625T>C (p.Ser2875=) c.8004T>C (p.Ser2668=) c.8724T>C (p.Ser2908=) c.9222T>C (p.Ser3074=) c.6819T>C (p.Ser2273=) | |
2 | g.237334630A>T | CA351187952 | COL6A3 | c.1611-1082T>A c.8607T>A (p.Ser2869Arg) c.1352T>A c.93T>A (p.Ser31Arg) c.9225T>A (p.Ser3075Arg) c.7401T>A (p.Ser2467Arg) c.7404T>A (p.Ser2468Arg) n.5667T>A n.157T>A c.8625T>A (p.Ser2875Arg) c.8004T>A (p.Ser2668Arg) c.8724T>A (p.Ser2908Arg) c.9222T>A (p.Ser3074Arg) c.6819T>A (p.Ser2273Arg) | |
2 | g.237334631C>A | CA351187955 | COL6A3 | c.1611-1083G>T c.8606G>T (p.Ser2869Ile) c.1351G>T c.92G>T (p.Ser31Ile) c.9224G>T (p.Ser3075Ile) c.7400G>T (p.Ser2467Ile) c.7403G>T (p.Ser2468Ile) n.5666G>T n.156G>T c.8624G>T (p.Ser2875Ile) c.8003G>T (p.Ser2668Ile) c.8723G>T (p.Ser2908Ile) c.9221G>T (p.Ser3074Ile) c.6818G>T (p.Ser2273Ile) | |
2 | g.237334631C>G | CA351187958 | COL6A3 | c.1611-1083G>C c.8606G>C (p.Ser2869Thr) c.1351G>C c.92G>C (p.Ser31Thr) c.9224G>C (p.Ser3075Thr) c.7400G>C (p.Ser2467Thr) c.7403G>C (p.Ser2468Thr) n.5666G>C n.156G>C c.8624G>C (p.Ser2875Thr) c.8003G>C (p.Ser2668Thr) c.8723G>C (p.Ser2908Thr) c.9221G>C (p.Ser3074Thr) c.6818G>C (p.Ser2273Thr) | gnomAD v4 |
2 | g.237334631C>T | CA351187956 | COL6A3 | c.1611-1083G>A c.8606G>A (p.Ser2869Asn) c.1351G>A c.92G>A (p.Ser31Asn) c.9224G>A (p.Ser3075Asn) c.7400G>A (p.Ser2467Asn) c.7403G>A (p.Ser2468Asn) n.5666G>A n.156G>A c.8624G>A (p.Ser2875Asn) c.8003G>A (p.Ser2668Asn) c.8723G>A (p.Ser2908Asn) c.9221G>A (p.Ser3074Asn) c.6818G>A (p.Ser2273Asn) | |
2 | g.237334632T>A | CA351187960 | COL6A3 | c.1611-1084A>T c.8605A>T (p.Ser2869Cys) c.1350A>T c.91A>T (p.Ser31Cys) c.9223A>T (p.Ser3075Cys) c.7399A>T (p.Ser2467Cys) c.7402A>T (p.Ser2468Cys) n.5665A>T n.155A>T c.8623A>T (p.Ser2875Cys) c.8002A>T (p.Ser2668Cys) c.8722A>T (p.Ser2908Cys) c.9220A>T (p.Ser3074Cys) c.6817A>T (p.Ser2273Cys) | |
2 | g.237334632T>C | CA351187961 | COL6A3 | c.1611-1084A>G c.8605A>G (p.Ser2869Gly) c.1350A>G c.91A>G (p.Ser31Gly) c.9223A>G (p.Ser3075Gly) c.7399A>G (p.Ser2467Gly) c.7402A>G (p.Ser2468Gly) n.5665A>G n.155A>G c.8623A>G (p.Ser2875Gly) c.8002A>G (p.Ser2668Gly) c.8722A>G (p.Ser2908Gly) c.9220A>G (p.Ser3074Gly) c.6817A>G (p.Ser2273Gly) | dbSNP |
2 | g.237334632T>G | CA351187963 | COL6A3 | c.1611-1084A>C c.8605A>C (p.Ser2869Arg) c.1350A>C c.91A>C (p.Ser31Arg) c.9223A>C (p.Ser3075Arg) c.7399A>C (p.Ser2467Arg) c.7402A>C (p.Ser2468Arg) n.5665A>C n.155A>C c.8623A>C (p.Ser2875Arg) c.8002A>C (p.Ser2668Arg) c.8722A>C (p.Ser2908Arg) c.9220A>C (p.Ser3074Arg) c.6817A>C (p.Ser2273Arg) | |
2 | g.237334632T= | CA1337606375 | COL6A3 | c.1611-1084A= c.8605A= (p.Ser2869=) c.1350A= c.91A= (p.Ser31=) c.9223A= (p.Ser3075=) c.7399A= (p.Ser2467=) c.7402A= (p.Ser2468=) n.5665A= n.155A= c.8623A= (p.Ser2875=) c.8002A= (p.Ser2668=) c.8722A= (p.Ser2908=) c.9220A= (p.Ser3074=) c.6817A= (p.Ser2273=) | |
2 | g.237334633G>A | CA67829362 | COL6A3 | c.1611-1085C>T c.8604C>T (p.Phe2868=) c.1349C>T c.90C>T (p.Phe30=) c.9222C>T (p.Phe3074=) c.7398C>T (p.Phe2466=) c.7401C>T (p.Phe2467=) n.5664C>T n.154C>T c.8622C>T (p.Phe2874=) c.8001C>T (p.Phe2667=) c.8721C>T (p.Phe2907=) c.9219C>T (p.Phe3073=) c.6816C>T (p.Phe2272=) | dbSNP |
2 | g.237334633G>C | CA351187965 | COL6A3 | c.1611-1085C>G c.8604C>G (p.Phe2868Leu) c.1349C>G c.90C>G (p.Phe30Leu) c.9222C>G (p.Phe3074Leu) c.7398C>G (p.Phe2466Leu) c.7401C>G (p.Phe2467Leu) n.5664C>G n.154C>G c.8622C>G (p.Phe2874Leu) c.8001C>G (p.Phe2667Leu) c.8721C>G (p.Phe2907Leu) c.9219C>G (p.Phe3073Leu) c.6816C>G (p.Phe2272Leu) | |
2 | g.237334633G= | CA1337606376 | COL6A3 | c.1611-1085C= c.8604C= (p.Phe2868=) c.1349C= c.90C= (p.Phe30=) c.9222C= (p.Phe3074=) c.7398C= (p.Phe2466=) c.7401C= (p.Phe2467=) n.5664C= n.154C= c.8622C= (p.Phe2874=) c.8001C= (p.Phe2667=) c.8721C= (p.Phe2907=) c.9219C= (p.Phe3073=) c.6816C= (p.Phe2272=) | |
2 | g.237334633G>T | CA351187967 | COL6A3 | c.1611-1085C>A c.8604C>A (p.Phe2868Leu) c.1349C>A c.90C>A (p.Phe30Leu) c.9222C>A (p.Phe3074Leu) c.7398C>A (p.Phe2466Leu) c.7401C>A (p.Phe2467Leu) n.5664C>A n.154C>A c.8622C>A (p.Phe2874Leu) c.8001C>A (p.Phe2667Leu) c.8721C>A (p.Phe2907Leu) c.9219C>A (p.Phe3073Leu) c.6816C>A (p.Phe2272Leu) | |
2 | g.237334634A>C | CA351187970 | COL6A3 | c.1611-1086T>G c.8603T>G (p.Phe2868Cys) c.1348T>G c.89T>G (p.Phe30Cys) c.9221T>G (p.Phe3074Cys) c.7397T>G (p.Phe2466Cys) c.7400T>G (p.Phe2467Cys) n.5663T>G n.153T>G c.8621T>G (p.Phe2874Cys) c.8000T>G (p.Phe2667Cys) c.8720T>G (p.Phe2907Cys) c.9218T>G (p.Phe3073Cys) c.6815T>G (p.Phe2272Cys) | |
2 | g.237334634A>G | CA351187968 | COL6A3 | c.1611-1086T>C c.8603T>C (p.Phe2868Ser) c.1348T>C c.89T>C (p.Phe30Ser) c.9221T>C (p.Phe3074Ser) c.7397T>C (p.Phe2466Ser) c.7400T>C (p.Phe2467Ser) n.5663T>C n.153T>C c.8621T>C (p.Phe2874Ser) c.8000T>C (p.Phe2667Ser) c.8720T>C (p.Phe2907Ser) c.9218T>C (p.Phe3073Ser) c.6815T>C (p.Phe2272Ser) | |
2 | g.237334634A>T | CA351187969 | COL6A3 | c.1611-1086T>A c.8603T>A (p.Phe2868Tyr) c.1348T>A c.89T>A (p.Phe30Tyr) c.9221T>A (p.Phe3074Tyr) c.7397T>A (p.Phe2466Tyr) c.7400T>A (p.Phe2467Tyr) n.5663T>A n.153T>A c.8621T>A (p.Phe2874Tyr) c.8000T>A (p.Phe2667Tyr) c.8720T>A (p.Phe2907Tyr) c.9218T>A (p.Phe3073Tyr) c.6815T>A (p.Phe2272Tyr) | |
2 | g.237334635A>C | CA351187971 | COL6A3 | c.1611-1087T>G c.8602T>G (p.Phe2868Val) c.1347T>G c.88T>G (p.Phe30Val) c.9220T>G (p.Phe3074Val) c.7396T>G (p.Phe2466Val) c.7399T>G (p.Phe2467Val) n.5662T>G n.152T>G c.8620T>G (p.Phe2874Val) c.7999T>G (p.Phe2667Val) c.8719T>G (p.Phe2907Val) c.9217T>G (p.Phe3073Val) c.6814T>G (p.Phe2272Val) | |
2 | g.237334635A>G | CA351187972 | COL6A3 | c.1611-1087T>C c.8602T>C (p.Phe2868Leu) c.1347T>C c.88T>C (p.Phe30Leu) c.9220T>C (p.Phe3074Leu) c.7396T>C (p.Phe2466Leu) c.7399T>C (p.Phe2467Leu) n.5662T>C n.152T>C c.8620T>C (p.Phe2874Leu) c.7999T>C (p.Phe2667Leu) c.8719T>C (p.Phe2907Leu) c.9217T>C (p.Phe3073Leu) c.6814T>C (p.Phe2272Leu) | |
2 | g.237334635A>T | CA351187974 | COL6A3 | c.1611-1087T>A c.8602T>A (p.Phe2868Ile) c.1347T>A c.88T>A (p.Phe30Ile) c.9220T>A (p.Phe3074Ile) c.7396T>A (p.Phe2466Ile) c.7399T>A (p.Phe2467Ile) n.5662T>A n.152T>A c.8620T>A (p.Phe2874Ile) c.7999T>A (p.Phe2667Ile) c.8719T>A (p.Phe2907Ile) c.9217T>A (p.Phe3073Ile) c.6814T>A (p.Phe2272Ile) | |
2 | g.237334636A= | CA1337606377 | COL6A3 | c.1611-1088T= c.8601T= (p.Ser2867=) c.1346T= c.87T= (p.Ser29=) c.9219T= (p.Ser3073=) c.7395T= (p.Ser2465=) c.7398T= (p.Ser2466=) n.5661T= n.151T= c.8619T= (p.Ser2873=) c.7998T= (p.Ser2666=) c.8718T= (p.Ser2906=) c.9216T= (p.Ser3072=) c.6813T= (p.Ser2271=) | |
2 | g.237334636A>C | CA351187976 | COL6A3 | c.1611-1088T>G c.8601T>G (p.Ser2867Arg) c.1346T>G c.87T>G (p.Ser29Arg) c.9219T>G (p.Ser3073Arg) c.7395T>G (p.Ser2465Arg) c.7398T>G (p.Ser2466Arg) n.5661T>G n.151T>G c.8619T>G (p.Ser2873Arg) c.7998T>G (p.Ser2666Arg) c.8718T>G (p.Ser2906Arg) c.9216T>G (p.Ser3072Arg) c.6813T>G (p.Ser2271Arg) | |
2 | g.237334636A>G | CA431693354 | COL6A3 | c.1611-1088T>C c.8601T>C (p.Ser2867=) c.1346T>C c.87T>C (p.Ser29=) c.9219T>C (p.Ser3073=) c.7395T>C (p.Ser2465=) c.7398T>C (p.Ser2466=) n.5661T>C n.151T>C c.8619T>C (p.Ser2873=) c.7998T>C (p.Ser2666=) c.8718T>C (p.Ser2906=) c.9216T>C (p.Ser3072=) c.6813T>C (p.Ser2271=) | |
2 | g.237334636A>T | CA67829364 | COL6A3 | c.1611-1088T>A c.8601T>A (p.Ser2867Arg) c.1346T>A c.87T>A (p.Ser29Arg) c.9219T>A (p.Ser3073Arg) c.7395T>A (p.Ser2465Arg) c.7398T>A (p.Ser2466Arg) n.5661T>A n.151T>A c.8619T>A (p.Ser2873Arg) c.7998T>A (p.Ser2666Arg) c.8718T>A (p.Ser2906Arg) c.9216T>A (p.Ser3072Arg) c.6813T>A (p.Ser2271Arg) | dbSNP |
2 | g.237334637C>A | CA351187980 | COL6A3 | c.1611-1089G>T c.8600G>T (p.Ser2867Ile) c.1345G>T c.86G>T (p.Ser29Ile) c.9218G>T (p.Ser3073Ile) c.7394G>T (p.Ser2465Ile) c.7397G>T (p.Ser2466Ile) n.5660G>T n.150G>T c.8618G>T (p.Ser2873Ile) c.7997G>T (p.Ser2666Ile) c.8717G>T (p.Ser2906Ile) c.9215G>T (p.Ser3072Ile) c.6812G>T (p.Ser2271Ile) | gnomAD v4 |
2 | g.237334637C>G | CA351187977 | COL6A3 | c.1611-1089G>C c.8600G>C (p.Ser2867Thr) c.1345G>C c.86G>C (p.Ser29Thr) c.9218G>C (p.Ser3073Thr) c.7394G>C (p.Ser2465Thr) c.7397G>C (p.Ser2466Thr) n.5660G>C n.150G>C c.8618G>C (p.Ser2873Thr) c.7997G>C (p.Ser2666Thr) c.8717G>C (p.Ser2906Thr) c.9215G>C (p.Ser3072Thr) c.6812G>C (p.Ser2271Thr) | |
2 | g.237334637C>T | CA351187979 | COL6A3 | c.1611-1089G>A c.8600G>A (p.Ser2867Asn) c.1345G>A c.86G>A (p.Ser29Asn) c.9218G>A (p.Ser3073Asn) c.7394G>A (p.Ser2465Asn) c.7397G>A (p.Ser2466Asn) n.5660G>A n.150G>A c.8618G>A (p.Ser2873Asn) c.7997G>A (p.Ser2666Asn) c.8717G>A (p.Ser2906Asn) c.9215G>A (p.Ser3072Asn) c.6812G>A (p.Ser2271Asn) | ClinVar gnomAD v4 |
2 | g.237334638T>A | CA351187982 | COL6A3 | c.1611-1090A>T c.8599A>T (p.Ser2867Cys) c.1344A>T c.85A>T (p.Ser29Cys) c.9217A>T (p.Ser3073Cys) c.7393A>T (p.Ser2465Cys) c.7396A>T (p.Ser2466Cys) n.5659A>T n.149A>T c.8617A>T (p.Ser2873Cys) c.7996A>T (p.Ser2666Cys) c.8716A>T (p.Ser2906Cys) c.9214A>T (p.Ser3072Cys) c.6811A>T (p.Ser2271Cys) | |
2 | g.237334638T>C | CA2187327 | COL6A3 | c.1611-1090A>G c.8599A>G (p.Ser2867Gly) c.1344A>G c.85A>G (p.Ser29Gly) c.9217A>G (p.Ser3073Gly) c.7393A>G (p.Ser2465Gly) c.7396A>G (p.Ser2466Gly) n.5659A>G n.149A>G c.8617A>G (p.Ser2873Gly) c.7996A>G (p.Ser2666Gly) c.8716A>G (p.Ser2906Gly) c.9214A>G (p.Ser3072Gly) c.6811A>G (p.Ser2271Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334638T>G | CA351187984 | COL6A3 | c.1611-1090A>C c.8599A>C (p.Ser2867Arg) c.1344A>C c.85A>C (p.Ser29Arg) c.9217A>C (p.Ser3073Arg) c.7393A>C (p.Ser2465Arg) c.7396A>C (p.Ser2466Arg) n.5659A>C n.149A>C c.8617A>C (p.Ser2873Arg) c.7996A>C (p.Ser2666Arg) c.8716A>C (p.Ser2906Arg) c.9214A>C (p.Ser3072Arg) c.6811A>C (p.Ser2271Arg) | dbSNP COSMIC |
2 | g.237334638T= | CA1337606378 | COL6A3 | c.1611-1090A= c.8599A= (p.Ser2867=) c.1344A= c.85A= (p.Ser29=) c.9217A= (p.Ser3073=) c.7393A= (p.Ser2465=) c.7396A= (p.Ser2466=) n.5659A= n.149A= c.8617A= (p.Ser2873=) c.7996A= (p.Ser2666=) c.8716A= (p.Ser2906=) c.9214A= (p.Ser3072=) c.6811A= (p.Ser2271=) | |
2 | g.237334639T>A | CA431693357 | COL6A3 | c.1611-1091A>T c.8598A>T (p.Gly2866=) c.1343A>T c.84A>T (p.Gly28=) c.9216A>T (p.Gly3072=) c.7392A>T (p.Gly2464=) c.7395A>T (p.Gly2465=) n.5658A>T n.148A>T c.8616A>T (p.Gly2872=) c.7995A>T (p.Gly2665=) c.8715A>T (p.Gly2905=) c.9213A>T (p.Gly3071=) c.6810A>T (p.Gly2270=) | |
2 | g.237334639T>C | CA431693355 | COL6A3 | c.1611-1091A>G c.8598A>G (p.Gly2866=) c.1343A>G c.84A>G (p.Gly28=) c.9216A>G (p.Gly3072=) c.7392A>G (p.Gly2464=) c.7395A>G (p.Gly2465=) n.5658A>G n.148A>G c.8616A>G (p.Gly2872=) c.7995A>G (p.Gly2665=) c.8715A>G (p.Gly2905=) c.9213A>G (p.Gly3071=) c.6810A>G (p.Gly2270=) | |
2 | g.237334639T>G | CA431693356 | COL6A3 | c.1611-1091A>C c.8598A>C (p.Gly2866=) c.1343A>C c.84A>C (p.Gly28=) c.9216A>C (p.Gly3072=) c.7392A>C (p.Gly2464=) c.7395A>C (p.Gly2465=) n.5658A>C n.148A>C c.8616A>C (p.Gly2872=) c.7995A>C (p.Gly2665=) c.8715A>C (p.Gly2905=) c.9213A>C (p.Gly3071=) c.6810A>C (p.Gly2270=) | |
2 | g.237334640C>A | CA351187986 | COL6A3 | c.1611-1092G>T c.8597G>T (p.Gly2866Val) c.1342G>T c.83G>T (p.Gly28Val) c.9215G>T (p.Gly3072Val) c.7391G>T (p.Gly2464Val) c.7394G>T (p.Gly2465Val) n.5657G>T n.147G>T c.8615G>T (p.Gly2872Val) c.7994G>T (p.Gly2665Val) c.8714G>T (p.Gly2905Val) c.9212G>T (p.Gly3071Val) c.6809G>T (p.Gly2270Val) | dbSNP |
2 | g.237334640C= | CA1337606379 | COL6A3 | c.1611-1092G= c.8597G= (p.Gly2866=) c.1342G= c.83G= (p.Gly28=) c.9215G= (p.Gly3072=) c.7391G= (p.Gly2464=) c.7394G= (p.Gly2465=) n.5657G= n.147G= c.8615G= (p.Gly2872=) c.7994G= (p.Gly2665=) c.8714G= (p.Gly2905=) c.9212G= (p.Gly3071=) c.6809G= (p.Gly2270=) | |
2 | g.237334640C>G | CA351187987 | COL6A3 | c.1611-1092G>C c.8597G>C (p.Gly2866Ala) c.1342G>C c.83G>C (p.Gly28Ala) c.9215G>C (p.Gly3072Ala) c.7391G>C (p.Gly2464Ala) c.7394G>C (p.Gly2465Ala) n.5657G>C n.147G>C c.8615G>C (p.Gly2872Ala) c.7994G>C (p.Gly2665Ala) c.8714G>C (p.Gly2905Ala) c.9212G>C (p.Gly3071Ala) c.6809G>C (p.Gly2270Ala) | |
2 | g.237334640C>T | CA2187328 | COL6A3 | c.1611-1092G>A c.8597G>A (p.Gly2866Glu) c.1342G>A c.83G>A (p.Gly28Glu) c.9215G>A (p.Gly3072Glu) c.7391G>A (p.Gly2464Glu) c.7394G>A (p.Gly2465Glu) n.5657G>A n.147G>A c.8615G>A (p.Gly2872Glu) c.7994G>A (p.Gly2665Glu) c.8714G>A (p.Gly2905Glu) c.9212G>A (p.Gly3071Glu) c.6809G>A (p.Gly2270Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334641C>A | CA351187990 | COL6A3 | c.1611-1093G>T c.8596G>T (p.Gly2866Ter) c.1341G>T c.82G>T (p.Gly28Ter) c.9214G>T (p.Gly3072Ter) c.7390G>T (p.Gly2464Ter) c.7393G>T (p.Gly2465Ter) n.5656G>T n.146G>T c.8614G>T (p.Gly2872Ter) c.7993G>T (p.Gly2665Ter) c.8713G>T (p.Gly2905Ter) c.9211G>T (p.Gly3071Ter) c.6808G>T (p.Gly2270Ter) | gnomAD v4 |
2 | g.237334641C= | CA1337606380 | COL6A3 | c.1611-1093G= c.8596G= (p.Gly2866=) c.1341G= c.82G= (p.Gly28=) c.9214G= (p.Gly3072=) c.7390G= (p.Gly2464=) c.7393G= (p.Gly2465=) n.5656G= n.146G= c.8614G= (p.Gly2872=) c.7993G= (p.Gly2665=) c.8713G= (p.Gly2905=) c.9211G= (p.Gly3071=) c.6808G= (p.Gly2270=) | |
2 | g.237334641C>G | CA351187992 | COL6A3 | c.1611-1093G>C c.8596G>C (p.Gly2866Arg) c.1341G>C c.82G>C (p.Gly28Arg) c.9214G>C (p.Gly3072Arg) c.7390G>C (p.Gly2464Arg) c.7393G>C (p.Gly2465Arg) n.5656G>C n.146G>C c.8614G>C (p.Gly2872Arg) c.7993G>C (p.Gly2665Arg) c.8713G>C (p.Gly2905Arg) c.9211G>C (p.Gly3071Arg) c.6808G>C (p.Gly2270Arg) | |
2 | g.237334641C>T | CA351187993 | COL6A3 | c.1611-1093G>A c.8596G>A (p.Gly2866Arg) c.1341G>A c.82G>A (p.Gly28Arg) c.9214G>A (p.Gly3072Arg) c.7390G>A (p.Gly2464Arg) c.7393G>A (p.Gly2465Arg) n.5656G>A n.146G>A c.8614G>A (p.Gly2872Arg) c.7993G>A (p.Gly2665Arg) c.8713G>A (p.Gly2905Arg) c.9211G>A (p.Gly3071Arg) c.6808G>A (p.Gly2270Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334642G>A | CA148101 | COL6A3 | c.1611-1094C>T c.8595C>T (p.His2865=) c.1340C>T c.81C>T (p.His27=) c.9213C>T (p.His3071=) c.7389C>T (p.His2463=) c.7392C>T (p.His2464=) n.5655C>T n.145C>T c.8613C>T (p.His2871=) c.7992C>T (p.His2664=) c.8712C>T (p.His2904=) c.9210C>T (p.His3070=) c.6807C>T (p.His2269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334642G>C | CA351187996 | COL6A3 | c.1611-1094C>G c.8595C>G (p.His2865Gln) c.1340C>G c.81C>G (p.His27Gln) c.9213C>G (p.His3071Gln) c.7389C>G (p.His2463Gln) c.7392C>G (p.His2464Gln) n.5655C>G n.145C>G c.8613C>G (p.His2871Gln) c.7992C>G (p.His2664Gln) c.8712C>G (p.His2904Gln) c.9210C>G (p.His3070Gln) c.6807C>G (p.His2269Gln) | |
2 | g.237334642G= | CA1337606381 | COL6A3 | c.1611-1094C= c.8595C= (p.His2865=) c.1340C= c.81C= (p.His27=) c.9213C= (p.His3071=) c.7389C= (p.His2463=) c.7392C= (p.His2464=) n.5655C= n.145C= c.8613C= (p.His2871=) c.7992C= (p.His2664=) c.8712C= (p.His2904=) c.9210C= (p.His3070=) c.6807C= (p.His2269=) | |
2 | g.237334642G>T | CA351187997 | COL6A3 | c.1611-1094C>A c.8595C>A (p.His2865Gln) c.1340C>A c.81C>A (p.His27Gln) c.9213C>A (p.His3071Gln) c.7389C>A (p.His2463Gln) c.7392C>A (p.His2464Gln) n.5655C>A n.145C>A c.8613C>A (p.His2871Gln) c.7992C>A (p.His2664Gln) c.8712C>A (p.His2904Gln) c.9210C>A (p.His3070Gln) c.6807C>A (p.His2269Gln) | |
2 | g.237334643T>A | CA351187999 | COL6A3 | c.1611-1095A>T c.8594A>T (p.His2865Leu) c.1339A>T c.80A>T (p.His27Leu) c.9212A>T (p.His3071Leu) c.7388A>T (p.His2463Leu) c.7391A>T (p.His2464Leu) n.5654A>T n.144A>T c.8612A>T (p.His2871Leu) c.7991A>T (p.His2664Leu) c.8711A>T (p.His2904Leu) c.9209A>T (p.His3070Leu) c.6806A>T (p.His2269Leu) | |
2 | g.237334643T>C | CA2187329 | COL6A3 | c.1611-1095A>G c.8594A>G (p.His2865Arg) c.1339A>G c.80A>G (p.His27Arg) c.9212A>G (p.His3071Arg) c.7388A>G (p.His2463Arg) c.7391A>G (p.His2464Arg) n.5654A>G n.144A>G c.8612A>G (p.His2871Arg) c.7991A>G (p.His2664Arg) c.8711A>G (p.His2904Arg) c.9209A>G (p.His3070Arg) c.6806A>G (p.His2269Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334643T>G | CA351188001 | COL6A3 | c.1611-1095A>C c.8594A>C (p.His2865Pro) c.1339A>C c.80A>C (p.His27Pro) c.9212A>C (p.His3071Pro) c.7388A>C (p.His2463Pro) c.7391A>C (p.His2464Pro) n.5654A>C n.144A>C c.8612A>C (p.His2871Pro) c.7991A>C (p.His2664Pro) c.8711A>C (p.His2904Pro) c.9209A>C (p.His3070Pro) c.6806A>C (p.His2269Pro) | |
2 | g.237334643T= | CA1337606382 | COL6A3 | c.1611-1095A= c.8594A= (p.His2865=) c.1339A= c.80A= (p.His27=) c.9212A= (p.His3071=) c.7388A= (p.His2463=) c.7391A= (p.His2464=) n.5654A= n.144A= c.8612A= (p.His2871=) c.7991A= (p.His2664=) c.8711A= (p.His2904=) c.9209A= (p.His3070=) c.6806A= (p.His2269=) | |
2 | g.237334644G>A | CA351188003 | COL6A3 | c.1611-1096C>T c.8593C>T (p.His2865Tyr) c.1338C>T c.79C>T (p.His27Tyr) c.9211C>T (p.His3071Tyr) c.7387C>T (p.His2463Tyr) c.7390C>T (p.His2464Tyr) n.5653C>T n.143C>T c.8611C>T (p.His2871Tyr) c.7990C>T (p.His2664Tyr) c.8710C>T (p.His2904Tyr) c.9208C>T (p.His3070Tyr) c.6805C>T (p.His2269Tyr) | gnomAD v4 |
2 | g.237334644G>C | CA351188005 | COL6A3 | c.1611-1096C>G c.8593C>G (p.His2865Asp) c.1338C>G c.79C>G (p.His27Asp) c.9211C>G (p.His3071Asp) c.7387C>G (p.His2463Asp) c.7390C>G (p.His2464Asp) n.5653C>G n.143C>G c.8611C>G (p.His2871Asp) c.7990C>G (p.His2664Asp) c.8710C>G (p.His2904Asp) c.9208C>G (p.His3070Asp) c.6805C>G (p.His2269Asp) | |
2 | g.237334644G>T | CA351188006 | COL6A3 | c.1611-1096C>A c.8593C>A (p.His2865Asn) c.1338C>A c.79C>A (p.His27Asn) c.9211C>A (p.His3071Asn) c.7387C>A (p.His2463Asn) c.7390C>A (p.His2464Asn) n.5653C>A n.143C>A c.8611C>A (p.His2871Asn) c.7990C>A (p.His2664Asn) c.8710C>A (p.His2904Asn) c.9208C>A (p.His3070Asn) c.6805C>A (p.His2269Asn) | |
2 | g.237334645G>A | CA431693359 | COL6A3 | c.1611-1097C>T c.8592C>T (p.Tyr2864=) c.1337C>T c.78C>T (p.Tyr26=) c.9210C>T (p.Tyr3070=) c.7386C>T (p.Tyr2462=) c.7389C>T (p.Tyr2463=) n.5652C>T n.142C>T c.8610C>T (p.Tyr2870=) c.7989C>T (p.Tyr2663=) c.8709C>T (p.Tyr2903=) c.9207C>T (p.Tyr3069=) c.6804C>T (p.Tyr2268=) | ClinVar dbSNP |
2 | g.237334645G>C | CA351188008 | COL6A3 | c.1611-1097C>G c.8592C>G (p.Tyr2864Ter) c.1337C>G c.78C>G (p.Tyr26Ter) c.9210C>G (p.Tyr3070Ter) c.7386C>G (p.Tyr2462Ter) c.7389C>G (p.Tyr2463Ter) n.5652C>G n.142C>G c.8610C>G (p.Tyr2870Ter) c.7989C>G (p.Tyr2663Ter) c.8709C>G (p.Tyr2903Ter) c.9207C>G (p.Tyr3069Ter) c.6804C>G (p.Tyr2268Ter) | |
2 | g.237334645G= | CA1337606383 | COL6A3 | c.1611-1097C= c.8592C= (p.Tyr2864=) c.1337C= c.78C= (p.Tyr26=) c.9210C= (p.Tyr3070=) c.7386C= (p.Tyr2462=) c.7389C= (p.Tyr2463=) n.5652C= n.142C= c.8610C= (p.Tyr2870=) c.7989C= (p.Tyr2663=) c.8709C= (p.Tyr2903=) c.9207C= (p.Tyr3069=) c.6804C= (p.Tyr2268=) | |
2 | g.237334645G>T | CA351188010 | COL6A3 | c.1611-1097C>A c.8592C>A (p.Tyr2864Ter) c.1337C>A c.78C>A (p.Tyr26Ter) c.9210C>A (p.Tyr3070Ter) c.7386C>A (p.Tyr2462Ter) c.7389C>A (p.Tyr2463Ter) n.5652C>A n.142C>A c.8610C>A (p.Tyr2870Ter) c.7989C>A (p.Tyr2663Ter) c.8709C>A (p.Tyr2903Ter) c.9207C>A (p.Tyr3069Ter) c.6804C>A (p.Tyr2268Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334646T>A | CA351188012 | COL6A3 | c.1611-1098A>T c.8591A>T (p.Tyr2864Phe) c.1336A>T c.77A>T (p.Tyr26Phe) c.9209A>T (p.Tyr3070Phe) c.7385A>T (p.Tyr2462Phe) c.7388A>T (p.Tyr2463Phe) n.5651A>T n.141A>T c.8609A>T (p.Tyr2870Phe) c.7988A>T (p.Tyr2663Phe) c.8708A>T (p.Tyr2903Phe) c.9206A>T (p.Tyr3069Phe) c.6803A>T (p.Tyr2268Phe) | |
2 | g.237334646T>C | CA2187330 | COL6A3 | c.1611-1098A>G c.8591A>G (p.Tyr2864Cys) c.1336A>G c.77A>G (p.Tyr26Cys) c.9209A>G (p.Tyr3070Cys) c.7385A>G (p.Tyr2462Cys) c.7388A>G (p.Tyr2463Cys) n.5651A>G n.141A>G c.8609A>G (p.Tyr2870Cys) c.7988A>G (p.Tyr2663Cys) c.8708A>G (p.Tyr2903Cys) c.9206A>G (p.Tyr3069Cys) c.6803A>G (p.Tyr2268Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334646T>G | CA351188014 | COL6A3 | c.1611-1098A>C c.8591A>C (p.Tyr2864Ser) c.1336A>C c.77A>C (p.Tyr26Ser) c.9209A>C (p.Tyr3070Ser) c.7385A>C (p.Tyr2462Ser) c.7388A>C (p.Tyr2463Ser) n.5651A>C n.141A>C c.8609A>C (p.Tyr2870Ser) c.7988A>C (p.Tyr2663Ser) c.8708A>C (p.Tyr2903Ser) c.9206A>C (p.Tyr3069Ser) c.6803A>C (p.Tyr2268Ser) | |
2 | g.237334646T= | CA1337606384 | COL6A3 | c.1611-1098A= c.8591A= (p.Tyr2864=) c.1336A= c.77A= (p.Tyr26=) c.9209A= (p.Tyr3070=) c.7385A= (p.Tyr2462=) c.7388A= (p.Tyr2463=) n.5651A= n.141A= c.8609A= (p.Tyr2870=) c.7988A= (p.Tyr2663=) c.8708A= (p.Tyr2903=) c.9206A= (p.Tyr3069=) c.6803A= (p.Tyr2268=) | |
2 | g.237334647A>C | CA351188016 | COL6A3 | c.1611-1099T>G c.8590T>G (p.Tyr2864Asp) c.1335T>G c.76T>G (p.Tyr26Asp) c.9208T>G (p.Tyr3070Asp) c.7384T>G (p.Tyr2462Asp) c.7387T>G (p.Tyr2463Asp) n.5650T>G n.140T>G c.8608T>G (p.Tyr2870Asp) c.7987T>G (p.Tyr2663Asp) c.8707T>G (p.Tyr2903Asp) c.9205T>G (p.Tyr3069Asp) c.6802T>G (p.Tyr2268Asp) | |
2 | g.237334647A>G | CA351188017 | COL6A3 | c.1611-1099T>C c.8590T>C (p.Tyr2864His) c.1335T>C c.76T>C (p.Tyr26His) c.9208T>C (p.Tyr3070His) c.7384T>C (p.Tyr2462His) c.7387T>C (p.Tyr2463His) n.5650T>C n.140T>C c.8608T>C (p.Tyr2870His) c.7987T>C (p.Tyr2663His) c.8707T>C (p.Tyr2903His) c.9205T>C (p.Tyr3069His) c.6802T>C (p.Tyr2268His) | |
2 | g.237334647A>T | CA351188019 | COL6A3 | c.1611-1099T>A c.8590T>A (p.Tyr2864Asn) c.1335T>A c.76T>A (p.Tyr26Asn) c.9208T>A (p.Tyr3070Asn) c.7384T>A (p.Tyr2462Asn) c.7387T>A (p.Tyr2463Asn) n.5650T>A n.140T>A c.8608T>A (p.Tyr2870Asn) c.7987T>A (p.Tyr2663Asn) c.8707T>A (p.Tyr2903Asn) c.9205T>A (p.Tyr3069Asn) c.6802T>A (p.Tyr2268Asn) | |
2 | g.237334648G>A | CA431693360 | COL6A3 | c.1611-1100C>T c.8589C>T (p.Thr2863=) c.1334C>T c.75C>T (p.Thr25=) c.9207C>T (p.Thr3069=) c.7383C>T (p.Thr2461=) c.7386C>T (p.Thr2462=) n.5649C>T n.139C>T c.8607C>T (p.Thr2869=) c.7986C>T (p.Thr2662=) c.8706C>T (p.Thr2902=) c.9204C>T (p.Thr3068=) c.6801C>T (p.Thr2267=) | |
2 | g.237334648G>C | CA431693362 | COL6A3 | c.1611-1100C>G c.8589C>G (p.Thr2863=) c.1334C>G c.75C>G (p.Thr25=) c.9207C>G (p.Thr3069=) c.7383C>G (p.Thr2461=) c.7386C>G (p.Thr2462=) n.5649C>G n.139C>G c.8607C>G (p.Thr2869=) c.7986C>G (p.Thr2662=) c.8706C>G (p.Thr2902=) c.9204C>G (p.Thr3068=) c.6801C>G (p.Thr2267=) | |
2 | g.237334648G>T | CA431693361 | COL6A3 | c.1611-1100C>A c.8589C>A (p.Thr2863=) c.1334C>A c.75C>A (p.Thr25=) c.9207C>A (p.Thr3069=) c.7383C>A (p.Thr2461=) c.7386C>A (p.Thr2462=) n.5649C>A n.139C>A c.8607C>A (p.Thr2869=) c.7986C>A (p.Thr2662=) c.8706C>A (p.Thr2902=) c.9204C>A (p.Thr3068=) c.6801C>A (p.Thr2267=) | |
2 | g.237334649G>A | CA148098 | COL6A3 | c.1611-1101C>T c.8588C>T (p.Thr2863Ile) c.1333C>T c.74C>T (p.Thr25Ile) c.9206C>T (p.Thr3069Ile) c.7382C>T (p.Thr2461Ile) c.7385C>T (p.Thr2462Ile) n.5648C>T n.138C>T c.8606C>T (p.Thr2869Ile) c.7985C>T (p.Thr2662Ile) c.8705C>T (p.Thr2902Ile) c.9203C>T (p.Thr3068Ile) c.6800C>T (p.Thr2267Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334649G>C | CA351188026 | COL6A3 | c.1611-1101C>G c.8588C>G (p.Thr2863Ser) c.1333C>G c.74C>G (p.Thr25Ser) c.9206C>G (p.Thr3069Ser) c.7382C>G (p.Thr2461Ser) c.7385C>G (p.Thr2462Ser) n.5648C>G n.138C>G c.8606C>G (p.Thr2869Ser) c.7985C>G (p.Thr2662Ser) c.8705C>G (p.Thr2902Ser) c.9203C>G (p.Thr3068Ser) c.6800C>G (p.Thr2267Ser) | |
2 | g.237334649G= | CA1337606385 | COL6A3 | c.1611-1101C= c.8588C= (p.Thr2863=) c.1333C= c.74C= (p.Thr25=) c.9206C= (p.Thr3069=) c.7382C= (p.Thr2461=) c.7385C= (p.Thr2462=) n.5648C= n.138C= c.8606C= (p.Thr2869=) c.7985C= (p.Thr2662=) c.8705C= (p.Thr2902=) c.9203C= (p.Thr3068=) c.6800C= (p.Thr2267=) | |
2 | g.237334649G>T | CA351188024 | COL6A3 | c.1611-1101C>A c.8588C>A (p.Thr2863Asn) c.1333C>A c.74C>A (p.Thr25Asn) c.9206C>A (p.Thr3069Asn) c.7382C>A (p.Thr2461Asn) c.7385C>A (p.Thr2462Asn) n.5648C>A n.138C>A c.8606C>A (p.Thr2869Asn) c.7985C>A (p.Thr2662Asn) c.8705C>A (p.Thr2902Asn) c.9203C>A (p.Thr3068Asn) c.6800C>A (p.Thr2267Asn) | |
2 | g.237334650T>A | CA351188030 | COL6A3 | c.1611-1102A>T c.8587A>T (p.Thr2863Ser) c.1332A>T c.73A>T (p.Thr25Ser) c.9205A>T (p.Thr3069Ser) c.7381A>T (p.Thr2461Ser) c.7384A>T (p.Thr2462Ser) n.5647A>T n.137A>T c.8605A>T (p.Thr2869Ser) c.7984A>T (p.Thr2662Ser) c.8704A>T (p.Thr2902Ser) c.9202A>T (p.Thr3068Ser) c.6799A>T (p.Thr2267Ser) | |
2 | g.237334650T>C | CA351188032 | COL6A3 | c.1611-1102A>G c.8587A>G (p.Thr2863Ala) c.1332A>G c.73A>G (p.Thr25Ala) c.9205A>G (p.Thr3069Ala) c.7381A>G (p.Thr2461Ala) c.7384A>G (p.Thr2462Ala) n.5647A>G n.137A>G c.8605A>G (p.Thr2869Ala) c.7984A>G (p.Thr2662Ala) c.8704A>G (p.Thr2902Ala) c.9202A>G (p.Thr3068Ala) c.6799A>G (p.Thr2267Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334650T>G | CA351188034 | COL6A3 | c.1611-1102A>C c.8587A>C (p.Thr2863Pro) c.1332A>C c.73A>C (p.Thr25Pro) c.9205A>C (p.Thr3069Pro) c.7381A>C (p.Thr2461Pro) c.7384A>C (p.Thr2462Pro) n.5647A>C n.137A>C c.8605A>C (p.Thr2869Pro) c.7984A>C (p.Thr2662Pro) c.8704A>C (p.Thr2902Pro) c.9202A>C (p.Thr3068Pro) c.6799A>C (p.Thr2267Pro) | |
2 | g.237334650T= | CA1337606386 | COL6A3 | c.1611-1102A= c.8587A= (p.Thr2863=) c.1332A= c.73A= (p.Thr25=) c.9205A= (p.Thr3069=) c.7381A= (p.Thr2461=) c.7384A= (p.Thr2462=) n.5647A= n.137A= c.8605A= (p.Thr2869=) c.7984A= (p.Thr2662=) c.8704A= (p.Thr2902=) c.9202A= (p.Thr3068=) c.6799A= (p.Thr2267=) | |
2 | g.237334651G>A | CA431693364 | COL6A3 | c.1611-1103C>T c.8586C>T (p.Ala2862=) c.1331C>T c.72C>T (p.Ala24=) c.9204C>T (p.Ala3068=) c.7380C>T (p.Ala2460=) c.7383C>T (p.Ala2461=) n.5646C>T n.136C>T c.8604C>T (p.Ala2868=) c.7983C>T (p.Ala2661=) c.8703C>T (p.Ala2901=) c.9201C>T (p.Ala3067=) c.6798C>T (p.Ala2266=) | dbSNP gnomAD v4 |
2 | g.237334651G>C | CA431693365 | COL6A3 | c.1611-1103C>G c.8586C>G (p.Ala2862=) c.1331C>G c.72C>G (p.Ala24=) c.9204C>G (p.Ala3068=) c.7380C>G (p.Ala2460=) c.7383C>G (p.Ala2461=) n.5646C>G n.136C>G c.8604C>G (p.Ala2868=) c.7983C>G (p.Ala2661=) c.8703C>G (p.Ala2901=) c.9201C>G (p.Ala3067=) c.6798C>G (p.Ala2266=) | gnomAD v4 |
2 | g.237334651G= | CA1337606387 | COL6A3 | c.1611-1103C= c.8586C= (p.Ala2862=) c.1331C= c.72C= (p.Ala24=) c.9204C= (p.Ala3068=) c.7380C= (p.Ala2460=) c.7383C= (p.Ala2461=) n.5646C= n.136C= c.8604C= (p.Ala2868=) c.7983C= (p.Ala2661=) c.8703C= (p.Ala2901=) c.9201C= (p.Ala3067=) c.6798C= (p.Ala2266=) | |
2 | g.237334651G>T | CA2187331 | COL6A3 | c.1611-1103C>A c.8586C>A (p.Ala2862=) c.1331C>A c.72C>A (p.Ala24=) c.9204C>A (p.Ala3068=) c.7380C>A (p.Ala2460=) c.7383C>A (p.Ala2461=) n.5646C>A n.136C>A c.8604C>A (p.Ala2868=) c.7983C>A (p.Ala2661=) c.8703C>A (p.Ala2901=) c.9201C>A (p.Ala3067=) c.6798C>A (p.Ala2266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334652G>A | CA351188039 | COL6A3 | c.1611-1104C>T c.8585C>T (p.Ala2862Val) c.1330C>T c.71C>T (p.Ala24Val) c.9203C>T (p.Ala3068Val) c.7379C>T (p.Ala2460Val) c.7382C>T (p.Ala2461Val) n.5645C>T n.135C>T c.8603C>T (p.Ala2868Val) c.7982C>T (p.Ala2661Val) c.8702C>T (p.Ala2901Val) c.9200C>T (p.Ala3067Val) c.6797C>T (p.Ala2266Val) | ClinVar dbSNP gnomAD v4 |
2 | g.237334652G>C | CA351188041 | COL6A3 | c.1611-1104C>G c.8585C>G (p.Ala2862Gly) c.1330C>G c.71C>G (p.Ala24Gly) c.9203C>G (p.Ala3068Gly) c.7379C>G (p.Ala2460Gly) c.7382C>G (p.Ala2461Gly) n.5645C>G n.135C>G c.8603C>G (p.Ala2868Gly) c.7982C>G (p.Ala2661Gly) c.8702C>G (p.Ala2901Gly) c.9200C>G (p.Ala3067Gly) c.6797C>G (p.Ala2266Gly) | |
2 | g.237334652G= | CA1337606388 | COL6A3 | c.1611-1104C= c.8585C= (p.Ala2862=) c.1330C= c.71C= (p.Ala24=) c.9203C= (p.Ala3068=) c.7379C= (p.Ala2460=) c.7382C= (p.Ala2461=) n.5645C= n.135C= c.8603C= (p.Ala2868=) c.7982C= (p.Ala2661=) c.8702C= (p.Ala2901=) c.9200C= (p.Ala3067=) c.6797C= (p.Ala2266=) | |
2 | g.237334652G>T | CA2187332 | COL6A3 | c.1611-1104C>A c.8585C>A (p.Ala2862Asp) c.1330C>A c.71C>A (p.Ala24Asp) c.9203C>A (p.Ala3068Asp) c.7379C>A (p.Ala2460Asp) c.7382C>A (p.Ala2461Asp) n.5645C>A n.135C>A c.8603C>A (p.Ala2868Asp) c.7982C>A (p.Ala2661Asp) c.8702C>A (p.Ala2901Asp) c.9200C>A (p.Ala3067Asp) c.6797C>A (p.Ala2266Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334653C>A | CA351188045 | COL6A3 | c.1611-1105G>T c.8584G>T (p.Ala2862Ser) c.1329G>T c.70G>T (p.Ala24Ser) c.9202G>T (p.Ala3068Ser) c.7378G>T (p.Ala2460Ser) c.7381G>T (p.Ala2461Ser) n.5644G>T n.134G>T c.8602G>T (p.Ala2868Ser) c.7981G>T (p.Ala2661Ser) c.8701G>T (p.Ala2901Ser) c.9199G>T (p.Ala3067Ser) c.6796G>T (p.Ala2266Ser) | |
2 | g.237334653C>G | CA351188046 | COL6A3 | c.1611-1105G>C c.8584G>C (p.Ala2862Pro) c.1329G>C c.70G>C (p.Ala24Pro) c.9202G>C (p.Ala3068Pro) c.7378G>C (p.Ala2460Pro) c.7381G>C (p.Ala2461Pro) n.5644G>C n.134G>C c.8602G>C (p.Ala2868Pro) c.7981G>C (p.Ala2661Pro) c.8701G>C (p.Ala2901Pro) c.9199G>C (p.Ala3067Pro) c.6796G>C (p.Ala2266Pro) | |
2 | g.237334653C>T | CA351188049 | COL6A3 | c.1611-1105G>A c.8584G>A (p.Ala2862Thr) c.1329G>A c.70G>A (p.Ala24Thr) c.9202G>A (p.Ala3068Thr) c.7378G>A (p.Ala2460Thr) c.7381G>A (p.Ala2461Thr) n.5644G>A n.134G>A c.8602G>A (p.Ala2868Thr) c.7981G>A (p.Ala2661Thr) c.8701G>A (p.Ala2901Thr) c.9199G>A (p.Ala3067Thr) c.6796G>A (p.Ala2266Thr) | gnomAD v4 |
2 | g.237334654T>A | CA351188051 | COL6A3 | c.1611-1106A>T c.8583A>T (p.Arg2861Ser) c.1328A>T c.69A>T (p.Arg23Ser) c.9201A>T (p.Arg3067Ser) c.7377A>T (p.Arg2459Ser) c.7380A>T (p.Arg2460Ser) n.5643A>T n.133A>T c.8601A>T (p.Arg2867Ser) c.7980A>T (p.Arg2660Ser) c.8700A>T (p.Arg2900Ser) c.9198A>T (p.Arg3066Ser) c.6795A>T (p.Arg2265Ser) | |
2 | g.237334654T>C | CA431693366 | COL6A3 | c.1611-1106A>G c.8583A>G (p.Arg2861=) c.1328A>G c.69A>G (p.Arg23=) c.9201A>G (p.Arg3067=) c.7377A>G (p.Arg2459=) c.7380A>G (p.Arg2460=) n.5643A>G n.133A>G c.8601A>G (p.Arg2867=) c.7980A>G (p.Arg2660=) c.8700A>G (p.Arg2900=) c.9198A>G (p.Arg3066=) c.6795A>G (p.Arg2265=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334654T>G | CA351188055 | COL6A3 | c.1611-1106A>C c.8583A>C (p.Arg2861Ser) c.1328A>C c.69A>C (p.Arg23Ser) c.9201A>C (p.Arg3067Ser) c.7377A>C (p.Arg2459Ser) c.7380A>C (p.Arg2460Ser) n.5643A>C n.133A>C c.8601A>C (p.Arg2867Ser) c.7980A>C (p.Arg2660Ser) c.8700A>C (p.Arg2900Ser) c.9198A>C (p.Arg3066Ser) c.6795A>C (p.Arg2265Ser) | ClinVar |
2 | g.237334654T= | CA1337606389 | COL6A3 | c.1611-1106A= c.8583A= (p.Arg2861=) c.1328A= c.69A= (p.Arg23=) c.9201A= (p.Arg3067=) c.7377A= (p.Arg2459=) c.7380A= (p.Arg2460=) n.5643A= n.133A= c.8601A= (p.Arg2867=) c.7980A= (p.Arg2660=) c.8700A= (p.Arg2900=) c.9198A= (p.Arg3066=) c.6795A= (p.Arg2265=) | |
2 | g.237334655C>A | CA351188061 | COL6A3 | c.1611-1107G>T c.8582G>T (p.Arg2861Ile) c.1327G>T c.68G>T (p.Arg23Ile) c.9200G>T (p.Arg3067Ile) c.7376G>T (p.Arg2459Ile) c.7379G>T (p.Arg2460Ile) n.5642G>T n.132G>T c.8600G>T (p.Arg2867Ile) c.7979G>T (p.Arg2660Ile) c.8699G>T (p.Arg2900Ile) c.9197G>T (p.Arg3066Ile) c.6794G>T (p.Arg2265Ile) | dbSNP |
2 | g.237334655C>G | CA351188059 | COL6A3 | c.1611-1107G>C c.8582G>C (p.Arg2861Thr) c.1327G>C c.68G>C (p.Arg23Thr) c.9200G>C (p.Arg3067Thr) c.7376G>C (p.Arg2459Thr) c.7379G>C (p.Arg2460Thr) n.5642G>C n.132G>C c.8600G>C (p.Arg2867Thr) c.7979G>C (p.Arg2660Thr) c.8699G>C (p.Arg2900Thr) c.9197G>C (p.Arg3066Thr) c.6794G>C (p.Arg2265Thr) | gnomAD v4 |
2 | g.237334655C>T | CA351188057 | COL6A3 | c.1611-1107G>A c.8582G>A (p.Arg2861Lys) c.1327G>A c.68G>A (p.Arg23Lys) c.9200G>A (p.Arg3067Lys) c.7376G>A (p.Arg2459Lys) c.7379G>A (p.Arg2460Lys) n.5642G>A n.132G>A c.8600G>A (p.Arg2867Lys) c.7979G>A (p.Arg2660Lys) c.8699G>A (p.Arg2900Lys) c.9197G>A (p.Arg3066Lys) c.6794G>A (p.Arg2265Lys) | |
2 | g.237334656T>A | CA351188064 | COL6A3 | c.1611-1108A>T c.8581A>T (p.Arg2861Ter) c.1326A>T c.67A>T (p.Arg23Ter) c.9199A>T (p.Arg3067Ter) c.7375A>T (p.Arg2459Ter) c.7378A>T (p.Arg2460Ter) n.5641A>T n.131A>T c.8599A>T (p.Arg2867Ter) c.7978A>T (p.Arg2660Ter) c.8698A>T (p.Arg2900Ter) c.9196A>T (p.Arg3066Ter) c.6793A>T (p.Arg2265Ter) | |
2 | g.237334656T>C | CA2187333 | COL6A3 | c.1611-1108A>G c.8581A>G (p.Arg2861Gly) c.1326A>G c.67A>G (p.Arg23Gly) c.9199A>G (p.Arg3067Gly) c.7375A>G (p.Arg2459Gly) c.7378A>G (p.Arg2460Gly) n.5641A>G n.131A>G c.8599A>G (p.Arg2867Gly) c.7978A>G (p.Arg2660Gly) c.8698A>G (p.Arg2900Gly) c.9196A>G (p.Arg3066Gly) c.6793A>G (p.Arg2265Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334656T>G | CA431693367 | COL6A3 | c.1611-1108A>C c.8581A>C (p.Arg2861=) c.1326A>C c.67A>C (p.Arg23=) c.9199A>C (p.Arg3067=) c.7375A>C (p.Arg2459=) c.7378A>C (p.Arg2460=) n.5641A>C n.131A>C c.8599A>C (p.Arg2867=) c.7978A>C (p.Arg2660=) c.8698A>C (p.Arg2900=) c.9196A>C (p.Arg3066=) c.6793A>C (p.Arg2265=) | |
2 | g.237334656T= | CA1337606390 | COL6A3 | c.1611-1108A= c.8581A= (p.Arg2861=) c.1326A= c.67A= (p.Arg23=) c.9199A= (p.Arg3067=) c.7375A= (p.Arg2459=) c.7378A= (p.Arg2460=) n.5641A= n.131A= c.8599A= (p.Arg2867=) c.7978A= (p.Arg2660=) c.8698A= (p.Arg2900=) c.9196A= (p.Arg3066=) c.6793A= (p.Arg2265=) | |
2 | g.237334657G>A | CA2187334 | COL6A3 | c.1611-1109C>T c.8580C>T (p.Val2860=) c.1325C>T c.66C>T (p.Val22=) c.9198C>T (p.Val3066=) c.7374C>T (p.Val2458=) c.7377C>T (p.Val2459=) n.5640C>T n.130C>T c.8598C>T (p.Val2866=) c.7977C>T (p.Val2659=) c.8697C>T (p.Val2899=) c.9195C>T (p.Val3065=) c.6792C>T (p.Val2264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334657G>C | CA431693368 | COL6A3 | c.1611-1109C>G c.8580C>G (p.Val2860=) c.1325C>G c.66C>G (p.Val22=) c.9198C>G (p.Val3066=) c.7374C>G (p.Val2458=) c.7377C>G (p.Val2459=) n.5640C>G n.130C>G c.8598C>G (p.Val2866=) c.7977C>G (p.Val2659=) c.8697C>G (p.Val2899=) c.9195C>G (p.Val3065=) c.6792C>G (p.Val2264=) | |
2 | g.237334657G= | CA1337606391 | COL6A3 | c.1611-1109C= c.8580C= (p.Val2860=) c.1325C= c.66C= (p.Val22=) c.9198C= (p.Val3066=) c.7374C= (p.Val2458=) c.7377C= (p.Val2459=) n.5640C= n.130C= c.8598C= (p.Val2866=) c.7977C= (p.Val2659=) c.8697C= (p.Val2899=) c.9195C= (p.Val3065=) c.6792C= (p.Val2264=) | |
2 | g.237334657G>T | CA431693369 | COL6A3 | c.1611-1109C>A c.8580C>A (p.Val2860=) c.1325C>A c.66C>A (p.Val22=) c.9198C>A (p.Val3066=) c.7374C>A (p.Val2458=) c.7377C>A (p.Val2459=) n.5640C>A n.130C>A c.8598C>A (p.Val2866=) c.7977C>A (p.Val2659=) c.8697C>A (p.Val2899=) c.9195C>A (p.Val3065=) c.6792C>A (p.Val2264=) | |
2 | g.237334658A= | CA1337606392 | COL6A3 | c.1611-1110T= c.8579T= (p.Val2860=) c.1324T= c.65T= (p.Val22=) c.9197T= (p.Val3066=) c.7373T= (p.Val2458=) c.7376T= (p.Val2459=) n.5639T= n.129T= c.8597T= (p.Val2866=) c.7976T= (p.Val2659=) c.8696T= (p.Val2899=) c.9194T= (p.Val3065=) c.6791T= (p.Val2264=) | |
2 | g.237334658A>C | CA351188072 | COL6A3 | c.1611-1110T>G c.8579T>G (p.Val2860Gly) c.1324T>G c.65T>G (p.Val22Gly) c.9197T>G (p.Val3066Gly) c.7373T>G (p.Val2458Gly) c.7376T>G (p.Val2459Gly) n.5639T>G n.129T>G c.8597T>G (p.Val2866Gly) c.7976T>G (p.Val2659Gly) c.8696T>G (p.Val2899Gly) c.9194T>G (p.Val3065Gly) c.6791T>G (p.Val2264Gly) | |
2 | g.237334658A>G | CA2187336 | COL6A3 | c.1611-1110T>C c.8579T>C (p.Val2860Ala) c.1324T>C c.65T>C (p.Val22Ala) c.9197T>C (p.Val3066Ala) c.7373T>C (p.Val2458Ala) c.7376T>C (p.Val2459Ala) n.5639T>C n.129T>C c.8597T>C (p.Val2866Ala) c.7976T>C (p.Val2659Ala) c.8696T>C (p.Val2899Ala) c.9194T>C (p.Val3065Ala) c.6791T>C (p.Val2264Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334658A>T | CA2187335 | COL6A3 | c.1611-1110T>A c.8579T>A (p.Val2860Asp) c.1324T>A c.65T>A (p.Val22Asp) c.9197T>A (p.Val3066Asp) c.7373T>A (p.Val2458Asp) c.7376T>A (p.Val2459Asp) n.5639T>A n.129T>A c.8597T>A (p.Val2866Asp) c.7976T>A (p.Val2659Asp) c.8696T>A (p.Val2899Asp) c.9194T>A (p.Val3065Asp) c.6791T>A (p.Val2264Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334659C>A | CA351188085 | COL6A3 | c.1611-1111G>T c.8578G>T (p.Val2860Phe) c.1323G>T c.64G>T (p.Val22Phe) c.9196G>T (p.Val3066Phe) c.7372G>T (p.Val2458Phe) c.7375G>T (p.Val2459Phe) n.5638G>T n.128G>T c.8596G>T (p.Val2866Phe) c.7975G>T (p.Val2659Phe) c.8695G>T (p.Val2899Phe) c.9193G>T (p.Val3065Phe) c.6790G>T (p.Val2264Phe) | |
2 | g.237334659C= | CA1337606393 | COL6A3 | c.1611-1111G= c.8578G= (p.Val2860=) c.1323G= c.64G= (p.Val22=) c.9196G= (p.Val3066=) c.7372G= (p.Val2458=) c.7375G= (p.Val2459=) n.5638G= n.128G= c.8596G= (p.Val2866=) c.7975G= (p.Val2659=) c.8695G= (p.Val2899=) c.9193G= (p.Val3065=) c.6790G= (p.Val2264=) | |
2 | g.237334659C>G | CA351188079 | COL6A3 | c.1611-1111G>C c.8578G>C (p.Val2860Leu) c.1323G>C c.64G>C (p.Val22Leu) c.9196G>C (p.Val3066Leu) c.7372G>C (p.Val2458Leu) c.7375G>C (p.Val2459Leu) n.5638G>C n.128G>C c.8596G>C (p.Val2866Leu) c.7975G>C (p.Val2659Leu) c.8695G>C (p.Val2899Leu) c.9193G>C (p.Val3065Leu) c.6790G>C (p.Val2264Leu) | |
2 | g.237334659C>T | CA351188082 | COL6A3 | c.1611-1111G>A c.8578G>A (p.Val2860Ile) c.1323G>A c.64G>A (p.Val22Ile) c.9196G>A (p.Val3066Ile) c.7372G>A (p.Val2458Ile) c.7375G>A (p.Val2459Ile) n.5638G>A n.128G>A c.8596G>A (p.Val2866Ile) c.7975G>A (p.Val2659Ile) c.8695G>A (p.Val2899Ile) c.9193G>A (p.Val3065Ile) c.6790G>A (p.Val2264Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334660C>A | CA67829391 | COL6A3 | c.1611-1112G>T c.8577G>T (p.Gln2859His) c.1322G>T c.63G>T (p.Gln21His) c.9195G>T (p.Gln3065His) c.7371G>T (p.Gln2457His) c.7374G>T (p.Gln2458His) n.5637G>T n.127G>T c.8595G>T (p.Gln2865His) c.7974G>T (p.Gln2658His) c.8694G>T (p.Gln2898His) c.9192G>T (p.Gln3064His) c.6789G>T (p.Gln2263His) | dbSNP |
2 | g.237334660C= | CA1337606394 | COL6A3 | c.1611-1112G= c.8577G= (p.Gln2859=) c.1322G= c.63G= (p.Gln21=) c.9195G= (p.Gln3065=) c.7371G= (p.Gln2457=) c.7374G= (p.Gln2458=) n.5637G= n.127G= c.8595G= (p.Gln2865=) c.7974G= (p.Gln2658=) c.8694G= (p.Gln2898=) c.9192G= (p.Gln3064=) c.6789G= (p.Gln2263=) | |
2 | g.237334660C>G | CA351188087 | COL6A3 | c.1611-1112G>C c.8577G>C (p.Gln2859His) c.1322G>C c.63G>C (p.Gln21His) c.9195G>C (p.Gln3065His) c.7371G>C (p.Gln2457His) c.7374G>C (p.Gln2458His) n.5637G>C n.127G>C c.8595G>C (p.Gln2865His) c.7974G>C (p.Gln2658His) c.8694G>C (p.Gln2898His) c.9192G>C (p.Gln3064His) c.6789G>C (p.Gln2263His) | |
2 | g.237334660C>T | CA431698427 | COL6A3 | c.1611-1112G>A c.8577G>A (p.Gln2859=) c.1322G>A c.63G>A (p.Gln21=) c.9195G>A (p.Gln3065=) c.7371G>A (p.Gln2457=) c.7374G>A (p.Gln2458=) n.5637G>A n.127G>A c.8595G>A (p.Gln2865=) c.7974G>A (p.Gln2658=) c.8694G>A (p.Gln2898=) c.9192G>A (p.Gln3064=) c.6789G>A (p.Gln2263=) | gnomAD v4 |
2 | g.237334661T>A | CA351188090 | COL6A3 | c.1611-1113A>T c.8576A>T (p.Gln2859Leu) c.1321A>T c.62A>T (p.Gln21Leu) c.9194A>T (p.Gln3065Leu) c.7370A>T (p.Gln2457Leu) c.7373A>T (p.Gln2458Leu) n.5636A>T n.126A>T c.8594A>T (p.Gln2865Leu) c.7973A>T (p.Gln2658Leu) c.8693A>T (p.Gln2898Leu) c.9191A>T (p.Gln3064Leu) c.6788A>T (p.Gln2263Leu) | |
2 | g.237334661T>C | CA351188093 | COL6A3 | c.1611-1113A>G c.8576A>G (p.Gln2859Arg) c.1321A>G c.62A>G (p.Gln21Arg) c.9194A>G (p.Gln3065Arg) c.7370A>G (p.Gln2457Arg) c.7373A>G (p.Gln2458Arg) n.5636A>G n.126A>G c.8594A>G (p.Gln2865Arg) c.7973A>G (p.Gln2658Arg) c.8693A>G (p.Gln2898Arg) c.9191A>G (p.Gln3064Arg) c.6788A>G (p.Gln2263Arg) | gnomAD v4 |
2 | g.237334661T>G | CA351188094 | COL6A3 | c.1611-1113A>C c.8576A>C (p.Gln2859Pro) c.1321A>C c.62A>C (p.Gln21Pro) c.9194A>C (p.Gln3065Pro) c.7370A>C (p.Gln2457Pro) c.7373A>C (p.Gln2458Pro) n.5636A>C n.126A>C c.8594A>C (p.Gln2865Pro) c.7973A>C (p.Gln2658Pro) c.8693A>C (p.Gln2898Pro) c.9191A>C (p.Gln3064Pro) c.6788A>C (p.Gln2263Pro) | |
2 | g.237334662G>A | CA10606202 | COL6A3 | c.1611-1114C>T c.8575C>T (p.Gln2859Ter) c.1320C>T c.61C>T (p.Gln21Ter) c.9193C>T (p.Gln3065Ter) c.7369C>T (p.Gln2457Ter) c.7372C>T (p.Gln2458Ter) n.5635C>T n.125C>T c.8593C>T (p.Gln2865Ter) c.7972C>T (p.Gln2658Ter) c.8692C>T (p.Gln2898Ter) c.9190C>T (p.Gln3064Ter) c.6787C>T (p.Gln2263Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.237334662G>C | CA351188097 | COL6A3 | c.1611-1114C>G c.8575C>G (p.Gln2859Glu) c.1320C>G c.61C>G (p.Gln21Glu) c.9193C>G (p.Gln3065Glu) c.7369C>G (p.Gln2457Glu) c.7372C>G (p.Gln2458Glu) n.5635C>G n.125C>G c.8593C>G (p.Gln2865Glu) c.7972C>G (p.Gln2658Glu) c.8692C>G (p.Gln2898Glu) c.9190C>G (p.Gln3064Glu) c.6787C>G (p.Gln2263Glu) | |
2 | g.237334662G= | CA1337606395 | COL6A3 | c.1611-1114C= c.8575C= (p.Gln2859=) c.1320C= c.61C= (p.Gln21=) c.9193C= (p.Gln3065=) c.7369C= (p.Gln2457=) c.7372C= (p.Gln2458=) n.5635C= n.125C= c.8593C= (p.Gln2865=) c.7972C= (p.Gln2658=) c.8692C= (p.Gln2898=) c.9190C= (p.Gln3064=) c.6787C= (p.Gln2263=) | |
2 | g.237334662G>T | CA351188100 | COL6A3 | c.1611-1114C>A c.8575C>A (p.Gln2859Lys) c.1320C>A c.61C>A (p.Gln21Lys) c.9193C>A (p.Gln3065Lys) c.7369C>A (p.Gln2457Lys) c.7372C>A (p.Gln2458Lys) n.5635C>A n.125C>A c.8593C>A (p.Gln2865Lys) c.7972C>A (p.Gln2658Lys) c.8692C>A (p.Gln2898Lys) c.9190C>A (p.Gln3064Lys) c.6787C>A (p.Gln2263Lys) | |
2 | g.237334663A= | CA1337606396 | COL6A3 | c.1611-1115T= c.8574T= (p.Ser2858=) c.1319T= c.60T= (p.Ser20=) c.9192T= (p.Ser3064=) c.7368T= (p.Ser2456=) c.7371T= (p.Ser2457=) n.5634T= n.124T= c.8592T= (p.Ser2864=) c.7971T= (p.Ser2657=) c.8691T= (p.Ser2897=) c.9189T= (p.Ser3063=) c.6786T= (p.Ser2262=) | |
2 | g.237334663A>C | CA431698450 | COL6A3 | c.1611-1115T>G c.8574T>G (p.Ser2858=) c.1319T>G c.60T>G (p.Ser20=) c.9192T>G (p.Ser3064=) c.7368T>G (p.Ser2456=) c.7371T>G (p.Ser2457=) n.5634T>G n.124T>G c.8592T>G (p.Ser2864=) c.7971T>G (p.Ser2657=) c.8691T>G (p.Ser2897=) c.9189T>G (p.Ser3063=) c.6786T>G (p.Ser2262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334663A>G | CA431698443 | COL6A3 | c.1611-1115T>C c.8574T>C (p.Ser2858=) c.1319T>C c.60T>C (p.Ser20=) c.9192T>C (p.Ser3064=) c.7368T>C (p.Ser2456=) c.7371T>C (p.Ser2457=) n.5634T>C n.124T>C c.8592T>C (p.Ser2864=) c.7971T>C (p.Ser2657=) c.8691T>C (p.Ser2897=) c.9189T>C (p.Ser3063=) c.6786T>C (p.Ser2262=) | |
2 | g.237334663A>T | CA431698446 | COL6A3 | c.1611-1115T>A c.8574T>A (p.Ser2858=) c.1319T>A c.60T>A (p.Ser20=) c.9192T>A (p.Ser3064=) c.7368T>A (p.Ser2456=) c.7371T>A (p.Ser2457=) n.5634T>A n.124T>A c.8592T>A (p.Ser2864=) c.7971T>A (p.Ser2657=) c.8691T>A (p.Ser2897=) c.9189T>A (p.Ser3063=) c.6786T>A (p.Ser2262=) | |
2 | g.237334664G>A | CA351188104 | COL6A3 | c.1611-1116C>T c.8573C>T (p.Ser2858Phe) c.1318C>T c.59C>T (p.Ser20Phe) c.9191C>T (p.Ser3064Phe) c.7367C>T (p.Ser2456Phe) c.7370C>T (p.Ser2457Phe) n.5633C>T n.123C>T c.8591C>T (p.Ser2864Phe) c.7970C>T (p.Ser2657Phe) c.8690C>T (p.Ser2897Phe) c.9188C>T (p.Ser3063Phe) c.6785C>T (p.Ser2262Phe) | |
2 | g.237334664G>C | CA351188106 | COL6A3 | c.1611-1116C>G c.8573C>G (p.Ser2858Cys) c.1318C>G c.59C>G (p.Ser20Cys) c.9191C>G (p.Ser3064Cys) c.7367C>G (p.Ser2456Cys) c.7370C>G (p.Ser2457Cys) n.5633C>G n.123C>G c.8591C>G (p.Ser2864Cys) c.7970C>G (p.Ser2657Cys) c.8690C>G (p.Ser2897Cys) c.9188C>G (p.Ser3063Cys) c.6785C>G (p.Ser2262Cys) | |
2 | g.237334664G>T | CA351188109 | COL6A3 | c.1611-1116C>A c.8573C>A (p.Ser2858Tyr) c.1318C>A c.59C>A (p.Ser20Tyr) c.9191C>A (p.Ser3064Tyr) c.7367C>A (p.Ser2456Tyr) c.7370C>A (p.Ser2457Tyr) n.5633C>A n.123C>A c.8591C>A (p.Ser2864Tyr) c.7970C>A (p.Ser2657Tyr) c.8690C>A (p.Ser2897Tyr) c.9188C>A (p.Ser3063Tyr) c.6785C>A (p.Ser2262Tyr) | gnomAD v4 |
2 | g.237334665A>C | CA351188111 | COL6A3 | c.1611-1117T>G c.8572T>G (p.Ser2858Ala) c.1317T>G c.58T>G (p.Ser20Ala) c.9190T>G (p.Ser3064Ala) c.7366T>G (p.Ser2456Ala) c.7369T>G (p.Ser2457Ala) n.5632T>G n.122T>G c.8590T>G (p.Ser2864Ala) c.7969T>G (p.Ser2657Ala) c.8689T>G (p.Ser2897Ala) c.9187T>G (p.Ser3063Ala) c.6784T>G (p.Ser2262Ala) | |
2 | g.237334665A>G | CA351188113 | COL6A3 | c.1611-1117T>C c.8572T>C (p.Ser2858Pro) c.1317T>C c.58T>C (p.Ser20Pro) c.9190T>C (p.Ser3064Pro) c.7366T>C (p.Ser2456Pro) c.7369T>C (p.Ser2457Pro) n.5632T>C n.122T>C c.8590T>C (p.Ser2864Pro) c.7969T>C (p.Ser2657Pro) c.8689T>C (p.Ser2897Pro) c.9187T>C (p.Ser3063Pro) c.6784T>C (p.Ser2262Pro) | |
2 | g.237334665A>T | CA351188114 | COL6A3 | c.1611-1117T>A c.8572T>A (p.Ser2858Thr) c.1317T>A c.58T>A (p.Ser20Thr) c.9190T>A (p.Ser3064Thr) c.7366T>A (p.Ser2456Thr) c.7369T>A (p.Ser2457Thr) n.5632T>A n.122T>A c.8590T>A (p.Ser2864Thr) c.7969T>A (p.Ser2657Thr) c.8689T>A (p.Ser2897Thr) c.9187T>A (p.Ser3063Thr) c.6784T>A (p.Ser2262Thr) | |
2 | g.237334666C>A | CA351188117 | COL6A3 | c.1611-1118G>T c.8571G>T (p.Arg2857Ser) c.1316G>T c.57G>T (p.Arg19Ser) c.9189G>T (p.Arg3063Ser) c.7365G>T (p.Arg2455Ser) c.7368G>T (p.Arg2456Ser) n.5631G>T n.121G>T c.8589G>T (p.Arg2863Ser) c.7968G>T (p.Arg2656Ser) c.8688G>T (p.Arg2896Ser) c.9186G>T (p.Arg3062Ser) c.6783G>T (p.Arg2261Ser) | |
2 | g.237334666C>G | CA351188119 | COL6A3 | c.1611-1118G>C c.8571G>C (p.Arg2857Ser) c.1316G>C c.57G>C (p.Arg19Ser) c.9189G>C (p.Arg3063Ser) c.7365G>C (p.Arg2455Ser) c.7368G>C (p.Arg2456Ser) n.5631G>C n.121G>C c.8589G>C (p.Arg2863Ser) c.7968G>C (p.Arg2656Ser) c.8688G>C (p.Arg2896Ser) c.9186G>C (p.Arg3062Ser) c.6783G>C (p.Arg2261Ser) | |
2 | g.237334666C>T | CA431698464 | COL6A3 | c.1611-1118G>A c.8571G>A (p.Arg2857=) c.1316G>A c.57G>A (p.Arg19=) c.9189G>A (p.Arg3063=) c.7365G>A (p.Arg2455=) c.7368G>A (p.Arg2456=) n.5631G>A n.121G>A c.8589G>A (p.Arg2863=) c.7968G>A (p.Arg2656=) c.8688G>A (p.Arg2896=) c.9186G>A (p.Arg3062=) c.6783G>A (p.Arg2261=) | |
2 | g.237334667C>A | CA351188122 | COL6A3 | c.1611-1119G>T c.8570G>T (p.Arg2857Met) c.1315G>T c.56G>T (p.Arg19Met) c.9188G>T (p.Arg3063Met) c.7364G>T (p.Arg2455Met) c.7367G>T (p.Arg2456Met) n.5630G>T n.120G>T c.8588G>T (p.Arg2863Met) c.7967G>T (p.Arg2656Met) c.8687G>T (p.Arg2896Met) c.9185G>T (p.Arg3062Met) c.6782G>T (p.Arg2261Met) | |
2 | g.237334667C= | CA1337606397 | COL6A3 | c.1611-1119G= c.8570G= (p.Arg2857=) c.1315G= c.56G= (p.Arg19=) c.9188G= (p.Arg3063=) c.7364G= (p.Arg2455=) c.7367G= (p.Arg2456=) n.5630G= n.120G= c.8588G= (p.Arg2863=) c.7967G= (p.Arg2656=) c.8687G= (p.Arg2896=) c.9185G= (p.Arg3062=) c.6782G= (p.Arg2261=) | |
2 | g.237334667C>G | CA351188124 | COL6A3 | c.1611-1119G>C c.8570G>C (p.Arg2857Thr) c.1315G>C c.56G>C (p.Arg19Thr) c.9188G>C (p.Arg3063Thr) c.7364G>C (p.Arg2455Thr) c.7367G>C (p.Arg2456Thr) n.5630G>C n.120G>C c.8588G>C (p.Arg2863Thr) c.7967G>C (p.Arg2656Thr) c.8687G>C (p.Arg2896Thr) c.9185G>C (p.Arg3062Thr) c.6782G>C (p.Arg2261Thr) | |
2 | g.237334667C>T | CA2187337 | COL6A3 | c.1611-1119G>A c.8570G>A (p.Arg2857Lys) c.1315G>A c.56G>A (p.Arg19Lys) c.9188G>A (p.Arg3063Lys) c.7364G>A (p.Arg2455Lys) c.7367G>A (p.Arg2456Lys) n.5630G>A n.120G>A c.8588G>A (p.Arg2863Lys) c.7967G>A (p.Arg2656Lys) c.8687G>A (p.Arg2896Lys) c.9185G>A (p.Arg3062Lys) c.6782G>A (p.Arg2261Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334668T>A | CA351188128 | COL6A3 | c.1611-1120A>T c.8569A>T (p.Arg2857Trp) c.1314A>T c.55A>T (p.Arg19Trp) c.9187A>T (p.Arg3063Trp) c.7363A>T (p.Arg2455Trp) c.7366A>T (p.Arg2456Trp) n.5629A>T n.119A>T c.8587A>T (p.Arg2863Trp) c.7966A>T (p.Arg2656Trp) c.8686A>T (p.Arg2896Trp) c.9184A>T (p.Arg3062Trp) c.6781A>T (p.Arg2261Trp) | |
2 | g.237334668T>C | CA351188131 | COL6A3 | c.1611-1120A>G c.8569A>G (p.Arg2857Gly) c.1314A>G c.55A>G (p.Arg19Gly) c.9187A>G (p.Arg3063Gly) c.7363A>G (p.Arg2455Gly) c.7366A>G (p.Arg2456Gly) n.5629A>G n.119A>G c.8587A>G (p.Arg2863Gly) c.7966A>G (p.Arg2656Gly) c.8686A>G (p.Arg2896Gly) c.9184A>G (p.Arg3062Gly) c.6781A>G (p.Arg2261Gly) | |
2 | g.237334668T>G | CA431698476 | COL6A3 | c.1611-1120A>C c.8569A>C (p.Arg2857=) c.1314A>C c.55A>C (p.Arg19=) c.9187A>C (p.Arg3063=) c.7363A>C (p.Arg2455=) c.7366A>C (p.Arg2456=) n.5629A>C n.119A>C c.8587A>C (p.Arg2863=) c.7966A>C (p.Arg2656=) c.8686A>C (p.Arg2896=) c.9184A>C (p.Arg3062=) c.6781A>C (p.Arg2261=) | |
2 | g.237334669C>A | CA431698482 | COL6A3 | c.1611-1121G>T c.8568G>T (p.Leu2856=) c.1313G>T c.54G>T (p.Leu18=) c.9186G>T (p.Leu3062=) c.7362G>T (p.Leu2454=) c.7365G>T (p.Leu2455=) n.5628G>T n.118G>T c.8586G>T (p.Leu2862=) c.7965G>T (p.Leu2655=) c.8685G>T (p.Leu2895=) c.9183G>T (p.Leu3061=) c.6780G>T (p.Leu2260=) | |
2 | g.237334669C>G | CA431698486 | COL6A3 | c.1611-1121G>C c.8568G>C (p.Leu2856=) c.1313G>C c.54G>C (p.Leu18=) c.9186G>C (p.Leu3062=) c.7362G>C (p.Leu2454=) c.7365G>C (p.Leu2455=) n.5628G>C n.118G>C c.8586G>C (p.Leu2862=) c.7965G>C (p.Leu2655=) c.8685G>C (p.Leu2895=) c.9183G>C (p.Leu3061=) c.6780G>C (p.Leu2260=) | |
2 | g.237334669C>T | CA431698488 | COL6A3 | c.1611-1121G>A c.8568G>A (p.Leu2856=) c.1313G>A c.54G>A (p.Leu18=) c.9186G>A (p.Leu3062=) c.7362G>A (p.Leu2454=) c.7365G>A (p.Leu2455=) n.5628G>A n.118G>A c.8586G>A (p.Leu2862=) c.7965G>A (p.Leu2655=) c.8685G>A (p.Leu2895=) c.9183G>A (p.Leu3061=) c.6780G>A (p.Leu2260=) | |
2 | g.237334670A= | CA1337606398 | COL6A3 | c.1611-1122T= c.8567T= (p.Leu2856=) c.1312T= c.53T= (p.Leu18=) c.9185T= (p.Leu3062=) c.7361T= (p.Leu2454=) c.7364T= (p.Leu2455=) n.5627T= n.117T= c.8585T= (p.Leu2862=) c.7964T= (p.Leu2655=) c.8684T= (p.Leu2895=) c.9182T= (p.Leu3061=) c.6779T= (p.Leu2260=) | |
2 | g.237334670A>C | CA351188133 | COL6A3 | c.1611-1122T>G c.8567T>G (p.Leu2856Arg) c.1312T>G c.53T>G (p.Leu18Arg) c.9185T>G (p.Leu3062Arg) c.7361T>G (p.Leu2454Arg) c.7364T>G (p.Leu2455Arg) n.5627T>G n.117T>G c.8585T>G (p.Leu2862Arg) c.7964T>G (p.Leu2655Arg) c.8684T>G (p.Leu2895Arg) c.9182T>G (p.Leu3061Arg) c.6779T>G (p.Leu2260Arg) | dbSNP gnomAD v4 |
2 | g.237334670A>G | CA351188138 | COL6A3 | c.1611-1122T>C c.8567T>C (p.Leu2856Pro) c.1312T>C c.53T>C (p.Leu18Pro) c.9185T>C (p.Leu3062Pro) c.7361T>C (p.Leu2454Pro) c.7364T>C (p.Leu2455Pro) n.5627T>C n.117T>C c.8585T>C (p.Leu2862Pro) c.7964T>C (p.Leu2655Pro) c.8684T>C (p.Leu2895Pro) c.9182T>C (p.Leu3061Pro) c.6779T>C (p.Leu2260Pro) | |
2 | g.237334670A>T | CA351188135 | COL6A3 | c.1611-1122T>A c.8567T>A (p.Leu2856Gln) c.1312T>A c.53T>A (p.Leu18Gln) c.9185T>A (p.Leu3062Gln) c.7361T>A (p.Leu2454Gln) c.7364T>A (p.Leu2455Gln) n.5627T>A n.117T>A c.8585T>A (p.Leu2862Gln) c.7964T>A (p.Leu2655Gln) c.8684T>A (p.Leu2895Gln) c.9182T>A (p.Leu3061Gln) c.6779T>A (p.Leu2260Gln) | |
2 | g.237334671G>A | CA431698501 | COL6A3 | c.1611-1123C>T c.8566C>T (p.Leu2856=) c.1311C>T c.52C>T (p.Leu18=) c.9184C>T (p.Leu3062=) c.7360C>T (p.Leu2454=) c.7363C>T (p.Leu2455=) n.5626C>T n.116C>T c.8584C>T (p.Leu2862=) c.7963C>T (p.Leu2655=) c.8683C>T (p.Leu2895=) c.9181C>T (p.Leu3061=) c.6778C>T (p.Leu2260=) | |
2 | g.237334671G>C | CA351188141 | COL6A3 | c.1611-1123C>G c.8566C>G (p.Leu2856Val) c.1311C>G c.52C>G (p.Leu18Val) c.9184C>G (p.Leu3062Val) c.7360C>G (p.Leu2454Val) c.7363C>G (p.Leu2455Val) n.5626C>G n.116C>G c.8584C>G (p.Leu2862Val) c.7963C>G (p.Leu2655Val) c.8683C>G (p.Leu2895Val) c.9181C>G (p.Leu3061Val) c.6778C>G (p.Leu2260Val) | |
2 | g.237334671G>T | CA351188142 | COL6A3 | c.1611-1123C>A c.8566C>A (p.Leu2856Met) c.1311C>A c.52C>A (p.Leu18Met) c.9184C>A (p.Leu3062Met) c.7360C>A (p.Leu2454Met) c.7363C>A (p.Leu2455Met) n.5626C>A n.116C>A c.8584C>A (p.Leu2862Met) c.7963C>A (p.Leu2655Met) c.8683C>A (p.Leu2895Met) c.9181C>A (p.Leu3061Met) c.6778C>A (p.Leu2260Met) | |
2 | g.237334672G>A | CA431698505 | COL6A3 | c.1611-1124C>T c.8565C>T (p.Tyr2855=) c.1310C>T c.51C>T (p.Tyr17=) c.9183C>T (p.Tyr3061=) c.7359C>T (p.Tyr2453=) c.7362C>T (p.Tyr2454=) n.5625C>T n.115C>T c.8583C>T (p.Tyr2861=) c.7962C>T (p.Tyr2654=) c.8682C>T (p.Tyr2894=) c.9180C>T (p.Tyr3060=) c.6777C>T (p.Tyr2259=) | |
2 | g.237334672G>C | CA351188144 | COL6A3 | c.1611-1124C>G c.8565C>G (p.Tyr2855Ter) c.1310C>G c.51C>G (p.Tyr17Ter) c.9183C>G (p.Tyr3061Ter) c.7359C>G (p.Tyr2453Ter) c.7362C>G (p.Tyr2454Ter) n.5625C>G n.115C>G c.8583C>G (p.Tyr2861Ter) c.7962C>G (p.Tyr2654Ter) c.8682C>G (p.Tyr2894Ter) c.9180C>G (p.Tyr3060Ter) c.6777C>G (p.Tyr2259Ter) | |
2 | g.237334672G>T | CA351188147 | COL6A3 | c.1611-1124C>A c.8565C>A (p.Tyr2855Ter) c.1310C>A c.51C>A (p.Tyr17Ter) c.9183C>A (p.Tyr3061Ter) c.7359C>A (p.Tyr2453Ter) c.7362C>A (p.Tyr2454Ter) n.5625C>A n.115C>A c.8583C>A (p.Tyr2861Ter) c.7962C>A (p.Tyr2654Ter) c.8682C>A (p.Tyr2894Ter) c.9180C>A (p.Tyr3060Ter) c.6777C>A (p.Tyr2259Ter) | |
2 | g.237334673T>A | CA351188149 | COL6A3 | c.1611-1125A>T c.8564A>T (p.Tyr2855Phe) c.1309A>T c.50A>T (p.Tyr17Phe) c.9182A>T (p.Tyr3061Phe) c.7358A>T (p.Tyr2453Phe) c.7361A>T (p.Tyr2454Phe) n.5624A>T n.114A>T c.8582A>T (p.Tyr2861Phe) c.7961A>T (p.Tyr2654Phe) c.8681A>T (p.Tyr2894Phe) c.9179A>T (p.Tyr3060Phe) c.6776A>T (p.Tyr2259Phe) | |
2 | g.237334673T>C | CA351188152 | COL6A3 | c.1611-1125A>G c.8564A>G (p.Tyr2855Cys) c.1309A>G c.50A>G (p.Tyr17Cys) c.9182A>G (p.Tyr3061Cys) c.7358A>G (p.Tyr2453Cys) c.7361A>G (p.Tyr2454Cys) n.5624A>G n.114A>G c.8582A>G (p.Tyr2861Cys) c.7961A>G (p.Tyr2654Cys) c.8681A>G (p.Tyr2894Cys) c.9179A>G (p.Tyr3060Cys) c.6776A>G (p.Tyr2259Cys) | |
2 | g.237334673T>G | CA351188153 | COL6A3 | c.1611-1125A>C c.8564A>C (p.Tyr2855Ser) c.1309A>C c.50A>C (p.Tyr17Ser) c.9182A>C (p.Tyr3061Ser) c.7358A>C (p.Tyr2453Ser) c.7361A>C (p.Tyr2454Ser) n.5624A>C n.114A>C c.8582A>C (p.Tyr2861Ser) c.7961A>C (p.Tyr2654Ser) c.8681A>C (p.Tyr2894Ser) c.9179A>C (p.Tyr3060Ser) c.6776A>C (p.Tyr2259Ser) | ClinVar dbSNP gnomAD v2 |
2 | g.237334673T= | CA1337606399 | COL6A3 | c.1611-1125A= c.8564A= (p.Tyr2855=) c.1309A= c.50A= (p.Tyr17=) c.9182A= (p.Tyr3061=) c.7358A= (p.Tyr2453=) c.7361A= (p.Tyr2454=) n.5624A= n.114A= c.8582A= (p.Tyr2861=) c.7961A= (p.Tyr2654=) c.8681A= (p.Tyr2894=) c.9179A= (p.Tyr3060=) c.6776A= (p.Tyr2259=) | |
2 | g.237334674A>C | CA351188156 | COL6A3 | c.1611-1126T>G c.8563T>G (p.Tyr2855Asp) c.1308T>G c.49T>G (p.Tyr17Asp) c.9181T>G (p.Tyr3061Asp) c.7357T>G (p.Tyr2453Asp) c.7360T>G (p.Tyr2454Asp) n.5623T>G n.113T>G c.8581T>G (p.Tyr2861Asp) c.7960T>G (p.Tyr2654Asp) c.8680T>G (p.Tyr2894Asp) c.9178T>G (p.Tyr3060Asp) c.6775T>G (p.Tyr2259Asp) | |
2 | g.237334674A>G | CA351188159 | COL6A3 | c.1611-1126T>C c.8563T>C (p.Tyr2855His) c.1308T>C c.49T>C (p.Tyr17His) c.9181T>C (p.Tyr3061His) c.7357T>C (p.Tyr2453His) c.7360T>C (p.Tyr2454His) n.5623T>C n.113T>C c.8581T>C (p.Tyr2861His) c.7960T>C (p.Tyr2654His) c.8680T>C (p.Tyr2894His) c.9178T>C (p.Tyr3060His) c.6775T>C (p.Tyr2259His) | |
2 | g.237334674A>T | CA351188162 | COL6A3 | c.1611-1126T>A c.8563T>A (p.Tyr2855Asn) c.1308T>A c.49T>A (p.Tyr17Asn) c.9181T>A (p.Tyr3061Asn) c.7357T>A (p.Tyr2453Asn) c.7360T>A (p.Tyr2454Asn) n.5623T>A n.113T>A c.8581T>A (p.Tyr2861Asn) c.7960T>A (p.Tyr2654Asn) c.8680T>A (p.Tyr2894Asn) c.9178T>A (p.Tyr3060Asn) c.6775T>A (p.Tyr2259Asn) | |
2 | g.237334675G>A | CA431698527 | COL6A3 | c.1611-1127C>T c.8562C>T (p.Cys2854=) c.1307C>T c.48C>T (p.Cys16=) c.9180C>T (p.Cys3060=) c.7356C>T (p.Cys2452=) c.7359C>T (p.Cys2453=) n.5622C>T n.112C>T c.8580C>T (p.Cys2860=) c.7959C>T (p.Cys2653=) c.8679C>T (p.Cys2893=) c.9177C>T (p.Cys3059=) c.6774C>T (p.Cys2258=) | |
2 | g.237334675G>C | CA2187338 | COL6A3 | c.1611-1127C>G c.8562C>G (p.Cys2854Trp) c.1307C>G c.48C>G (p.Cys16Trp) c.9180C>G (p.Cys3060Trp) c.7356C>G (p.Cys2452Trp) c.7359C>G (p.Cys2453Trp) n.5622C>G n.112C>G c.8580C>G (p.Cys2860Trp) c.7959C>G (p.Cys2653Trp) c.8679C>G (p.Cys2893Trp) c.9177C>G (p.Cys3059Trp) c.6774C>G (p.Cys2258Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334675G= | CA1337606400 | COL6A3 | c.1611-1127C= c.8562C= (p.Cys2854=) c.1307C= c.48C= (p.Cys16=) c.9180C= (p.Cys3060=) c.7356C= (p.Cys2452=) c.7359C= (p.Cys2453=) n.5622C= n.112C= c.8580C= (p.Cys2860=) c.7959C= (p.Cys2653=) c.8679C= (p.Cys2893=) c.9177C= (p.Cys3059=) c.6774C= (p.Cys2258=) | |
2 | g.237334675G>T | CA351188165 | COL6A3 | c.1611-1127C>A c.8562C>A (p.Cys2854Ter) c.1307C>A c.48C>A (p.Cys16Ter) c.9180C>A (p.Cys3060Ter) c.7356C>A (p.Cys2452Ter) c.7359C>A (p.Cys2453Ter) n.5622C>A n.112C>A c.8580C>A (p.Cys2860Ter) c.7959C>A (p.Cys2653Ter) c.8679C>A (p.Cys2893Ter) c.9177C>A (p.Cys3059Ter) c.6774C>A (p.Cys2258Ter) | |
2 | g.237334676C>A | CA351188170 | COL6A3 | c.1611-1128G>T c.8561G>T (p.Cys2854Phe) c.1306G>T c.47G>T (p.Cys16Phe) c.9179G>T (p.Cys3060Phe) c.7355G>T (p.Cys2452Phe) c.7358G>T (p.Cys2453Phe) n.5621G>T n.111G>T c.8579G>T (p.Cys2860Phe) c.7958G>T (p.Cys2653Phe) c.8678G>T (p.Cys2893Phe) c.9176G>T (p.Cys3059Phe) c.6773G>T (p.Cys2258Phe) | |
2 | g.237334676C= | CA1337606401 | COL6A3 | c.1611-1128G= c.8561G= (p.Cys2854=) c.1306G= c.47G= (p.Cys16=) c.9179G= (p.Cys3060=) c.7355G= (p.Cys2452=) c.7358G= (p.Cys2453=) n.5621G= n.111G= c.8579G= (p.Cys2860=) c.7958G= (p.Cys2653=) c.8678G= (p.Cys2893=) c.9176G= (p.Cys3059=) c.6773G= (p.Cys2258=) | |
2 | g.237334676C>G | CA351188168 | COL6A3 | c.1611-1128G>C c.8561G>C (p.Cys2854Ser) c.1306G>C c.47G>C (p.Cys16Ser) c.9179G>C (p.Cys3060Ser) c.7355G>C (p.Cys2452Ser) c.7358G>C (p.Cys2453Ser) n.5621G>C n.111G>C c.8579G>C (p.Cys2860Ser) c.7958G>C (p.Cys2653Ser) c.8678G>C (p.Cys2893Ser) c.9176G>C (p.Cys3059Ser) c.6773G>C (p.Cys2258Ser) | |
2 | g.237334676C>T | CA351188167 | COL6A3 | c.1611-1128G>A c.8561G>A (p.Cys2854Tyr) c.1306G>A c.47G>A (p.Cys16Tyr) c.9179G>A (p.Cys3060Tyr) c.7355G>A (p.Cys2452Tyr) c.7358G>A (p.Cys2453Tyr) n.5621G>A n.111G>A c.8579G>A (p.Cys2860Tyr) c.7958G>A (p.Cys2653Tyr) c.8678G>A (p.Cys2893Tyr) c.9176G>A (p.Cys3059Tyr) c.6773G>A (p.Cys2258Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237334677A>C | CA351188172 | COL6A3 | c.1611-1129T>G c.8560T>G (p.Cys2854Gly) c.1305T>G c.46T>G (p.Cys16Gly) c.9178T>G (p.Cys3060Gly) c.7354T>G (p.Cys2452Gly) c.7357T>G (p.Cys2453Gly) n.5620T>G n.110T>G c.8578T>G (p.Cys2860Gly) c.7957T>G (p.Cys2653Gly) c.8677T>G (p.Cys2893Gly) c.9175T>G (p.Cys3059Gly) c.6772T>G (p.Cys2258Gly) | |
2 | g.237334677A>G | CA351188173 | COL6A3 | c.1611-1129T>C c.8560T>C (p.Cys2854Arg) c.1305T>C c.46T>C (p.Cys16Arg) c.9178T>C (p.Cys3060Arg) c.7354T>C (p.Cys2452Arg) c.7357T>C (p.Cys2453Arg) n.5620T>C n.110T>C c.8578T>C (p.Cys2860Arg) c.7957T>C (p.Cys2653Arg) c.8677T>C (p.Cys2893Arg) c.9175T>C (p.Cys3059Arg) c.6772T>C (p.Cys2258Arg) | |
2 | g.237334677A>T | CA351188175 | COL6A3 | c.1611-1129T>A c.8560T>A (p.Cys2854Ser) c.1305T>A c.46T>A (p.Cys16Ser) c.9178T>A (p.Cys3060Ser) c.7354T>A (p.Cys2452Ser) c.7357T>A (p.Cys2453Ser) n.5620T>A n.110T>A c.8578T>A (p.Cys2860Ser) c.7957T>A (p.Cys2653Ser) c.8677T>A (p.Cys2893Ser) c.9175T>A (p.Cys3059Ser) c.6772T>A (p.Cys2258Ser) | |
2 | g.237334678G>A | CA431698544 | COL6A3 | c.1611-1130C>T c.8559C>T (p.Val2853=) c.1304C>T c.45C>T (p.Val15=) c.9177C>T (p.Val3059=) c.7353C>T (p.Val2451=) c.7356C>T (p.Val2452=) n.5619C>T n.109C>T c.8577C>T (p.Val2859=) c.7956C>T (p.Val2652=) c.8676C>T (p.Val2892=) c.9174C>T (p.Val3058=) c.6771C>T (p.Val2257=) | dbSNP |
2 | g.237334678G>C | CA431698546 | COL6A3 | c.1611-1130C>G c.8559C>G (p.Val2853=) c.1304C>G c.45C>G (p.Val15=) c.9177C>G (p.Val3059=) c.7353C>G (p.Val2451=) c.7356C>G (p.Val2452=) n.5619C>G n.109C>G c.8577C>G (p.Val2859=) c.7956C>G (p.Val2652=) c.8676C>G (p.Val2892=) c.9174C>G (p.Val3058=) c.6771C>G (p.Val2257=) | |
2 | g.237334678G>T | CA431698549 | COL6A3 | c.1611-1130C>A c.8559C>A (p.Val2853=) c.1304C>A c.45C>A (p.Val15=) c.9177C>A (p.Val3059=) c.7353C>A (p.Val2451=) c.7356C>A (p.Val2452=) n.5619C>A n.109C>A c.8577C>A (p.Val2859=) c.7956C>A (p.Val2652=) c.8676C>A (p.Val2892=) c.9174C>A (p.Val3058=) c.6771C>A (p.Val2257=) | |
2 | g.237334679A= | CA1337606402 | COL6A3 | c.1611-1131T= c.8558T= (p.Val2853=) c.1303T= c.44T= (p.Val15=) c.9176T= (p.Val3059=) c.7352T= (p.Val2451=) c.7355T= (p.Val2452=) n.5618T= n.108T= c.8576T= (p.Val2859=) c.7955T= (p.Val2652=) c.8675T= (p.Val2892=) c.9173T= (p.Val3058=) c.6770T= (p.Val2257=) | |
2 | g.237334679A>C | CA351188177 | COL6A3 | c.1611-1131T>G c.8558T>G (p.Val2853Gly) c.1303T>G c.44T>G (p.Val15Gly) c.9176T>G (p.Val3059Gly) c.7352T>G (p.Val2451Gly) c.7355T>G (p.Val2452Gly) n.5618T>G n.108T>G c.8576T>G (p.Val2859Gly) c.7955T>G (p.Val2652Gly) c.8675T>G (p.Val2892Gly) c.9173T>G (p.Val3058Gly) c.6770T>G (p.Val2257Gly) | dbSNP |
2 | g.237334679A>G | CA351188179 | COL6A3 | c.1611-1131T>C c.8558T>C (p.Val2853Ala) c.1303T>C c.44T>C (p.Val15Ala) c.9176T>C (p.Val3059Ala) c.7352T>C (p.Val2451Ala) c.7355T>C (p.Val2452Ala) n.5618T>C n.108T>C c.8576T>C (p.Val2859Ala) c.7955T>C (p.Val2652Ala) c.8675T>C (p.Val2892Ala) c.9173T>C (p.Val3058Ala) c.6770T>C (p.Val2257Ala) | |
2 | g.237334679A>T | CA351188183 | COL6A3 | c.1611-1131T>A c.8558T>A (p.Val2853Asp) c.1303T>A c.44T>A (p.Val15Asp) c.9176T>A (p.Val3059Asp) c.7352T>A (p.Val2451Asp) c.7355T>A (p.Val2452Asp) n.5618T>A n.108T>A c.8576T>A (p.Val2859Asp) c.7955T>A (p.Val2652Asp) c.8675T>A (p.Val2892Asp) c.9173T>A (p.Val3058Asp) c.6770T>A (p.Val2257Asp) | |
2 | g.237334680C>A | CA2187339 | COL6A3 | c.1611-1132G>T c.8557G>T (p.Val2853Phe) c.1302G>T c.43G>T (p.Val15Phe) c.9175G>T (p.Val3059Phe) c.7351G>T (p.Val2451Phe) c.7354G>T (p.Val2452Phe) n.5617G>T n.107G>T c.8575G>T (p.Val2859Phe) c.7954G>T (p.Val2652Phe) c.8674G>T (p.Val2892Phe) c.9172G>T (p.Val3058Phe) c.6769G>T (p.Val2257Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237334680C= | CA1337606403 | COL6A3 | c.1611-1132G= c.8557G= (p.Val2853=) c.1302G= c.43G= (p.Val15=) c.9175G= (p.Val3059=) c.7351G= (p.Val2451=) c.7354G= (p.Val2452=) n.5617G= n.107G= c.8575G= (p.Val2859=) c.7954G= (p.Val2652=) c.8674G= (p.Val2892=) c.9172G= (p.Val3058=) c.6769G= (p.Val2257=) | |
2 | g.237334680C>G | CA351188185 | COL6A3 | c.1611-1132G>C c.8557G>C (p.Val2853Leu) c.1302G>C c.43G>C (p.Val15Leu) c.9175G>C (p.Val3059Leu) c.7351G>C (p.Val2451Leu) c.7354G>C (p.Val2452Leu) n.5617G>C n.107G>C c.8575G>C (p.Val2859Leu) c.7954G>C (p.Val2652Leu) c.8674G>C (p.Val2892Leu) c.9172G>C (p.Val3058Leu) c.6769G>C (p.Val2257Leu) | |
2 | g.237334680C>T | CA351188186 | COL6A3 | c.1611-1132G>A c.8557G>A (p.Val2853Ile) c.1302G>A c.43G>A (p.Val15Ile) c.9175G>A (p.Val3059Ile) c.7351G>A (p.Val2451Ile) c.7354G>A (p.Val2452Ile) n.5617G>A n.107G>A c.8575G>A (p.Val2859Ile) c.7954G>A (p.Val2652Ile) c.8674G>A (p.Val2892Ile) c.9172G>A (p.Val3058Ile) c.6769G>A (p.Val2257Ile) | |
2 | g.237334681del | CA2580066096 | COL6A3 | c.1611-1132del c.8557del (p.Val2853SerfsTer4) c.1302del c.43del (p.Val15SerfsTer4) c.9175del (p.Val3059SerfsTer4) c.7351del (p.Val2451SerfsTer4) c.7354del (p.Val2452SerfsTer4) n.5617del n.107del c.8575del (p.Val2859SerfsTer4) c.7954del (p.Val2652SerfsTer4) c.8674del (p.Val2892SerfsTer4) c.9172del (p.Val3058SerfsTer4) c.6769del (p.Val2257SerfsTer4) | ClinVar |
2 | g.237334681C>A | CA431698565 | COL6A3 | c.1611-1133G>T c.8556G>T (p.Val2852=) c.1301G>T c.42G>T (p.Val14=) c.9174G>T (p.Val3058=) c.7350G>T (p.Val2450=) c.7353G>T (p.Val2451=) n.5616G>T n.106G>T c.8574G>T (p.Val2858=) c.7953G>T (p.Val2651=) c.8673G>T (p.Val2891=) c.9171G>T (p.Val3057=) c.6768G>T (p.Val2256=) | |
2 | g.237334681C= | CA1337606404 | COL6A3 | c.1611-1133G= c.8556G= (p.Val2852=) c.1301G= c.42G= (p.Val14=) c.9174G= (p.Val3058=) c.7350G= (p.Val2450=) c.7353G= (p.Val2451=) n.5616G= n.106G= c.8574G= (p.Val2858=) c.7953G= (p.Val2651=) c.8673G= (p.Val2891=) c.9171G= (p.Val3057=) c.6768G= (p.Val2256=) | |
2 | g.237334681C>G | CA431698568 | COL6A3 | c.1611-1133G>C c.8556G>C (p.Val2852=) c.1301G>C c.42G>C (p.Val14=) c.9174G>C (p.Val3058=) c.7350G>C (p.Val2450=) c.7353G>C (p.Val2451=) n.5616G>C n.106G>C c.8574G>C (p.Val2858=) c.7953G>C (p.Val2651=) c.8673G>C (p.Val2891=) c.9171G>C (p.Val3057=) c.6768G>C (p.Val2256=) | |
2 | g.237334681C>T | CA431698577 | COL6A3 | c.1611-1133G>A c.8556G>A (p.Val2852=) c.1301G>A c.42G>A (p.Val14=) c.9174G>A (p.Val3058=) c.7350G>A (p.Val2450=) c.7353G>A (p.Val2451=) n.5616G>A n.106G>A c.8574G>A (p.Val2858=) c.7953G>A (p.Val2651=) c.8673G>A (p.Val2891=) c.9171G>A (p.Val3057=) c.6768G>A (p.Val2256=) | dbSNP gnomAD v4 |
2 | g.237334682A= | CA1337606405 | COL6A3 | c.1611-1134T= c.8555T= (p.Val2852=) c.1300T= c.41T= (p.Val14=) c.9173T= (p.Val3058=) c.7349T= (p.Val2450=) c.7352T= (p.Val2451=) n.5615T= n.105T= c.8573T= (p.Val2858=) c.7952T= (p.Val2651=) c.8672T= (p.Val2891=) c.9170T= (p.Val3057=) c.6767T= (p.Val2256=) | |
2 | g.237334682A>C | CA2187340 | COL6A3 | c.1611-1134T>G c.8555T>G (p.Val2852Gly) c.1300T>G c.41T>G (p.Val14Gly) c.9173T>G (p.Val3058Gly) c.7349T>G (p.Val2450Gly) c.7352T>G (p.Val2451Gly) n.5615T>G n.105T>G c.8573T>G (p.Val2858Gly) c.7952T>G (p.Val2651Gly) c.8672T>G (p.Val2891Gly) c.9170T>G (p.Val3057Gly) c.6767T>G (p.Val2256Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237334682A>G | CA351188189 | COL6A3 | c.1611-1134T>C c.8555T>C (p.Val2852Ala) c.1300T>C c.41T>C (p.Val14Ala) c.9173T>C (p.Val3058Ala) c.7349T>C (p.Val2450Ala) c.7352T>C (p.Val2451Ala) n.5615T>C n.105T>C c.8573T>C (p.Val2858Ala) c.7952T>C (p.Val2651Ala) c.8672T>C (p.Val2891Ala) c.9170T>C (p.Val3057Ala) c.6767T>C (p.Val2256Ala) | |
2 | g.237334682A>T | CA351188191 | COL6A3 | c.1611-1134T>A c.8555T>A (p.Val2852Glu) c.1300T>A c.41T>A (p.Val14Glu) c.9173T>A (p.Val3058Glu) c.7349T>A (p.Val2450Glu) c.7352T>A (p.Val2451Glu) n.5615T>A n.105T>A c.8573T>A (p.Val2858Glu) c.7952T>A (p.Val2651Glu) c.8672T>A (p.Val2891Glu) c.9170T>A (p.Val3057Glu) c.6767T>A (p.Val2256Glu) |