Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.237361077A>G | CA2663795352 | COL6A3 | c.5592+44T>C (n.5592+44T>C) c.6210+44T>C (n.6210+44T>C) c.4389+44T>C (n.4389+44T>C) c.5610+44T>C (n.5610+44T>C) c.4989+44T>C (n.4989+44T>C) c.5709+44T>C (n.5709+44T>C) c.6207+44T>C (n.6207+44T>C) c.3804+44T>C (n.3804+44T>C) | gnomAD v4 |
2 | g.237361078A>G | CA2663795353 | COL6A3 | c.5592+43T>C (n.5592+43T>C) c.6210+43T>C (n.6210+43T>C) c.4389+43T>C (n.4389+43T>C) c.5610+43T>C (n.5610+43T>C) c.4989+43T>C (n.4989+43T>C) c.5709+43T>C (n.5709+43T>C) c.6207+43T>C (n.6207+43T>C) c.3804+43T>C (n.3804+43T>C) | gnomAD v4 |
2 | g.237361079G>T | CA2663795354 | COL6A3 | c.5592+42C>A (n.5592+42C>A) c.6210+42C>A (n.6210+42C>A) c.4389+42C>A (n.4389+42C>A) c.5610+42C>A (n.5610+42C>A) c.4989+42C>A (n.4989+42C>A) c.5709+42C>A (n.5709+42C>A) c.6207+42C>A (n.6207+42C>A) c.3804+42C>A (n.3804+42C>A) | gnomAD v4 |
2 | g.237361080G>A | CA1337618486 | COL6A3 | c.5592+41C>T (n.5592+41C>T) c.6210+41C>T (n.6210+41C>T) c.4389+41C>T (n.4389+41C>T) c.5610+41C>T (n.5610+41C>T) c.4989+41C>T (n.4989+41C>T) c.5709+41C>T (n.5709+41C>T) c.6207+41C>T (n.6207+41C>T) c.3804+41C>T (n.3804+41C>T) | dbSNP gnomAD v4 |
2 | g.237361080G= | CA1337618485 | COL6A3 | c.5592+41C= (n.5592+41C=) c.6210+41C= (n.6210+41C=) c.4389+41C= (n.4389+41C=) c.5610+41C= (n.5610+41C=) c.4989+41C= (n.4989+41C=) c.5709+41C= (n.5709+41C=) c.6207+41C= (n.6207+41C=) c.3804+41C= (n.3804+41C=) | |
2 | g.237361080G>T | CA2663795355 | COL6A3 | c.5592+41C>A (n.5592+41C>A) c.6210+41C>A (n.6210+41C>A) c.4389+41C>A (n.4389+41C>A) c.5610+41C>A (n.5610+41C>A) c.4989+41C>A (n.4989+41C>A) c.5709+41C>A (n.5709+41C>A) c.6207+41C>A (n.6207+41C>A) c.3804+41C>A (n.3804+41C>A) | gnomAD v4 |
2 | g.237361081A= | CA1337618489 | COL6A3 | c.5592+40T= (n.5592+40T=) c.6210+40T= (n.6210+40T=) c.4389+40T= (n.4389+40T=) c.5610+40T= (n.5610+40T=) c.4989+40T= (n.4989+40T=) c.5709+40T= (n.5709+40T=) c.6207+40T= (n.6207+40T=) c.3804+40T= (n.3804+40T=) | |
2 | g.237361081A>C | CA540464237 | COL6A3 | c.5592+40T>G (n.5592+40T>G) c.6210+40T>G (n.6210+40T>G) c.4389+40T>G (n.4389+40T>G) c.5610+40T>G (n.5610+40T>G) c.4989+40T>G (n.4989+40T>G) c.5709+40T>G (n.5709+40T>G) c.6207+40T>G (n.6207+40T>G) c.3804+40T>G (n.3804+40T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361081A>G | CA540464236 | COL6A3 | c.5592+40T>C (n.5592+40T>C) c.6210+40T>C (n.6210+40T>C) c.4389+40T>C (n.4389+40T>C) c.5610+40T>C (n.5610+40T>C) c.4989+40T>C (n.4989+40T>C) c.5709+40T>C (n.5709+40T>C) c.6207+40T>C (n.6207+40T>C) c.3804+40T>C (n.3804+40T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361081_237361082delinsAG | CA1337618490 | COL6A3 | c.5592+39_5592+40delinsCT (n.5592+39_5592+40delinsCT) c.6210+39_6210+40delinsCT (n.6210+39_6210+40delinsCT) c.4389+39_4389+40delinsCT (n.4389+39_4389+40delinsCT) c.5610+39_5610+40delinsCT (n.5610+39_5610+40delinsCT) c.4989+39_4989+40delinsCT (n.4989+39_4989+40delinsCT) c.5709+39_5709+40delinsCT (n.5709+39_5709+40delinsCT) c.6207+39_6207+40delinsCT (n.6207+39_6207+40delinsCT) c.3804+39_3804+40delinsCT (n.3804+39_3804+40delinsCT) | |
2 | g.237361082G>A | CA540464238 | COL6A3 | c.5592+39C>T (n.5592+39C>T) c.6210+39C>T (n.6210+39C>T) c.4389+39C>T (n.4389+39C>T) c.5610+39C>T (n.5610+39C>T) c.4989+39C>T (n.4989+39C>T) c.5709+39C>T (n.5709+39C>T) c.6207+39C>T (n.6207+39C>T) c.3804+39C>T (n.3804+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361082G= | CA1337618494 | COL6A3 | c.5592+39C= (n.5592+39C=) c.6210+39C= (n.6210+39C=) c.4389+39C= (n.4389+39C=) c.5610+39C= (n.5610+39C=) c.4989+39C= (n.4989+39C=) c.5709+39C= (n.5709+39C=) c.6207+39C= (n.6207+39C=) c.3804+39C= (n.3804+39C=) | |
2 | g.237361082G>T | CA2663795358 | COL6A3 | c.5592+39C>A (n.5592+39C>A) c.6210+39C>A (n.6210+39C>A) c.4389+39C>A (n.4389+39C>A) c.5610+39C>A (n.5610+39C>A) c.4989+39C>A (n.4989+39C>A) c.5709+39C>A (n.5709+39C>A) c.6207+39C>A (n.6207+39C>A) c.3804+39C>A (n.3804+39C>A) | gnomAD v4 |
2 | g.237361086dup | CA2754787386 | COL6A3 | c.5592+39dup (n.5592+39dup) c.6210+39dup (n.6210+39dup) c.4389+39dup (n.4389+39dup) c.5610+39dup (n.5610+39dup) c.4989+39dup (n.4989+39dup) c.5709+39dup (n.5709+39dup) c.6207+39dup (n.6207+39dup) c.3804+39dup (n.3804+39dup) | |
2 | g.237361086del | CA2188405 | COL6A3 | c.5592+39del (n.5592+39del) c.6210+39del (n.6210+39del) c.4389+39del (n.4389+39del) c.5610+39del (n.5610+39del) c.4989+39del (n.4989+39del) c.5709+39del (n.5709+39del) c.6207+39del (n.6207+39del) c.3804+39del (n.3804+39del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361083G>A | CA2188406 | COL6A3 | c.5592+38C>T (n.5592+38C>T) c.6210+38C>T (n.6210+38C>T) c.4389+38C>T (n.4389+38C>T) c.5610+38C>T (n.5610+38C>T) c.4989+38C>T (n.4989+38C>T) c.5709+38C>T (n.5709+38C>T) c.6207+38C>T (n.6207+38C>T) c.3804+38C>T (n.3804+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361083G>C | CA2754787387 | COL6A3 | c.5592+38C>G (n.5592+38C>G) c.6210+38C>G (n.6210+38C>G) c.4389+38C>G (n.4389+38C>G) c.5610+38C>G (n.5610+38C>G) c.4989+38C>G (n.4989+38C>G) c.5709+38C>G (n.5709+38C>G) c.6207+38C>G (n.6207+38C>G) c.3804+38C>G (n.3804+38C>G) | |
2 | g.237361083G= | CA1337618496 | COL6A3 | c.5592+38C= (n.5592+38C=) c.6210+38C= (n.6210+38C=) c.4389+38C= (n.4389+38C=) c.5610+38C= (n.5610+38C=) c.4989+38C= (n.4989+38C=) c.5709+38C= (n.5709+38C=) c.6207+38C= (n.6207+38C=) c.3804+38C= (n.3804+38C=) | |
2 | g.237361083G>T | CA2663795362 | COL6A3 | c.5592+38C>A (n.5592+38C>A) c.6210+38C>A (n.6210+38C>A) c.4389+38C>A (n.4389+38C>A) c.5610+38C>A (n.5610+38C>A) c.4989+38C>A (n.4989+38C>A) c.5709+38C>A (n.5709+38C>A) c.6207+38C>A (n.6207+38C>A) c.3804+38C>A (n.3804+38C>A) | gnomAD v4 |
2 | g.237361084G>A | CA766578111 | COL6A3 | c.5592+37C>T (n.5592+37C>T) c.6210+37C>T (n.6210+37C>T) c.4389+37C>T (n.4389+37C>T) c.5610+37C>T (n.5610+37C>T) c.4989+37C>T (n.4989+37C>T) c.5709+37C>T (n.5709+37C>T) c.6207+37C>T (n.6207+37C>T) c.3804+37C>T (n.3804+37C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237361084G= | CA1337618502 | COL6A3 | c.5592+37C= (n.5592+37C=) c.6210+37C= (n.6210+37C=) c.4389+37C= (n.4389+37C=) c.5610+37C= (n.5610+37C=) c.4989+37C= (n.4989+37C=) c.5709+37C= (n.5709+37C=) c.6207+37C= (n.6207+37C=) c.3804+37C= (n.3804+37C=) | |
2 | g.237361084G>T | CA2663795364 | COL6A3 | c.5592+37C>A (n.5592+37C>A) c.6210+37C>A (n.6210+37C>A) c.4389+37C>A (n.4389+37C>A) c.5610+37C>A (n.5610+37C>A) c.4989+37C>A (n.4989+37C>A) c.5709+37C>A (n.5709+37C>A) c.6207+37C>A (n.6207+37C>A) c.3804+37C>A (n.3804+37C>A) | gnomAD v4 |
2 | g.237361085G>A | CA2188407 | COL6A3 | c.5592+36C>T (n.5592+36C>T) c.6210+36C>T (n.6210+36C>T) c.4389+36C>T (n.4389+36C>T) c.5610+36C>T (n.5610+36C>T) c.4989+36C>T (n.4989+36C>T) c.5709+36C>T (n.5709+36C>T) c.6207+36C>T (n.6207+36C>T) c.3804+36C>T (n.3804+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361085G= | CA1337618505 | COL6A3 | c.5592+36C= (n.5592+36C=) c.6210+36C= (n.6210+36C=) c.4389+36C= (n.4389+36C=) c.5610+36C= (n.5610+36C=) c.4989+36C= (n.4989+36C=) c.5709+36C= (n.5709+36C=) c.6207+36C= (n.6207+36C=) c.3804+36C= (n.3804+36C=) | |
2 | g.237361085G>T | CA2663795367 | COL6A3 | c.5592+36C>A (n.5592+36C>A) c.6210+36C>A (n.6210+36C>A) c.4389+36C>A (n.4389+36C>A) c.5610+36C>A (n.5610+36C>A) c.4989+36C>A (n.4989+36C>A) c.5709+36C>A (n.5709+36C>A) c.6207+36C>A (n.6207+36C>A) c.3804+36C>A (n.3804+36C>A) | gnomAD v4 |
2 | g.237361086G>T | CA2663795369 | COL6A3 | c.5592+35C>A (n.5592+35C>A) c.6210+35C>A (n.6210+35C>A) c.4389+35C>A (n.4389+35C>A) c.5610+35C>A (n.5610+35C>A) c.4989+35C>A (n.4989+35C>A) c.5709+35C>A (n.5709+35C>A) c.6207+35C>A (n.6207+35C>A) c.3804+35C>A (n.3804+35C>A) | gnomAD v4 |
2 | g.237361087T>C | CA2188408 | COL6A3 | c.5592+34A>G (n.5592+34A>G) c.6210+34A>G (n.6210+34A>G) c.4389+34A>G (n.4389+34A>G) c.5610+34A>G (n.5610+34A>G) c.4989+34A>G (n.4989+34A>G) c.5709+34A>G (n.5709+34A>G) c.6207+34A>G (n.6207+34A>G) c.3804+34A>G (n.3804+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361087T= | CA1337618509 | COL6A3 | c.5592+34A= (n.5592+34A=) c.6210+34A= (n.6210+34A=) c.4389+34A= (n.4389+34A=) c.5610+34A= (n.5610+34A=) c.4989+34A= (n.4989+34A=) c.5709+34A= (n.5709+34A=) c.6207+34A= (n.6207+34A=) c.3804+34A= (n.3804+34A=) | |
2 | g.237361088G>A | CA2663795373 | COL6A3 | c.5592+33C>T (n.5592+33C>T) c.6210+33C>T (n.6210+33C>T) c.4389+33C>T (n.4389+33C>T) c.5610+33C>T (n.5610+33C>T) c.4989+33C>T (n.4989+33C>T) c.5709+33C>T (n.5709+33C>T) c.6207+33C>T (n.6207+33C>T) c.3804+33C>T (n.3804+33C>T) | gnomAD v4 |
2 | g.237361088G>T | CA2663795374 | COL6A3 | c.5592+33C>A (n.5592+33C>A) c.6210+33C>A (n.6210+33C>A) c.4389+33C>A (n.4389+33C>A) c.5610+33C>A (n.5610+33C>A) c.4989+33C>A (n.4989+33C>A) c.5709+33C>A (n.5709+33C>A) c.6207+33C>A (n.6207+33C>A) c.3804+33C>A (n.3804+33C>A) | gnomAD v4 |
2 | g.237361089A>C | CA2663795375 | COL6A3 | c.5592+32T>G (n.5592+32T>G) c.6210+32T>G (n.6210+32T>G) c.4389+32T>G (n.4389+32T>G) c.5610+32T>G (n.5610+32T>G) c.4989+32T>G (n.4989+32T>G) c.5709+32T>G (n.5709+32T>G) c.6207+32T>G (n.6207+32T>G) c.3804+32T>G (n.3804+32T>G) | gnomAD v4 |
2 | g.237361092T>C | CA540464240 | COL6A3 | c.5592+29A>G (n.5592+29A>G) c.6210+29A>G (n.6210+29A>G) c.4389+29A>G (n.4389+29A>G) c.5610+29A>G (n.5610+29A>G) c.4989+29A>G (n.4989+29A>G) c.5709+29A>G (n.5709+29A>G) c.6207+29A>G (n.6207+29A>G) c.3804+29A>G (n.3804+29A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361092T= | CA1337618512 | COL6A3 | c.5592+29A= (n.5592+29A=) c.6210+29A= (n.6210+29A=) c.4389+29A= (n.4389+29A=) c.5610+29A= (n.5610+29A=) c.4989+29A= (n.4989+29A=) c.5709+29A= (n.5709+29A=) c.6207+29A= (n.6207+29A=) c.3804+29A= (n.3804+29A=) | |
2 | g.237361093T>G | CA67855040 | COL6A3 | c.5592+28A>C (n.5592+28A>C) c.6210+28A>C (n.6210+28A>C) c.4389+28A>C (n.4389+28A>C) c.5610+28A>C (n.5610+28A>C) c.4989+28A>C (n.4989+28A>C) c.5709+28A>C (n.5709+28A>C) c.6207+28A>C (n.6207+28A>C) c.3804+28A>C (n.3804+28A>C) | dbSNP |
2 | g.237361093T= | CA1337618514 | COL6A3 | c.5592+28A= (n.5592+28A=) c.6210+28A= (n.6210+28A=) c.4389+28A= (n.4389+28A=) c.5610+28A= (n.5610+28A=) c.4989+28A= (n.4989+28A=) c.5709+28A= (n.5709+28A=) c.6207+28A= (n.6207+28A=) c.3804+28A= (n.3804+28A=) | |
2 | g.237361096A= | CA1337618516 | COL6A3 | c.5592+25T= (n.5592+25T=) c.6210+25T= (n.6210+25T=) c.4389+25T= (n.4389+25T=) c.5610+25T= (n.5610+25T=) c.4989+25T= (n.4989+25T=) c.5709+25T= (n.5709+25T=) c.6207+25T= (n.6207+25T=) c.3804+25T= (n.3804+25T=) | |
2 | g.237361096A>G | CA2188409 | COL6A3 | c.5592+25T>C (n.5592+25T>C) c.6210+25T>C (n.6210+25T>C) c.4389+25T>C (n.4389+25T>C) c.5610+25T>C (n.5610+25T>C) c.4989+25T>C (n.4989+25T>C) c.5709+25T>C (n.5709+25T>C) c.6207+25T>C (n.6207+25T>C) c.3804+25T>C (n.3804+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361097G= | CA1337618517 | COL6A3 | c.5592+24C= (n.5592+24C=) c.6210+24C= (n.6210+24C=) c.4389+24C= (n.4389+24C=) c.5610+24C= (n.5610+24C=) c.4989+24C= (n.4989+24C=) c.5709+24C= (n.5709+24C=) c.6207+24C= (n.6207+24C=) c.3804+24C= (n.3804+24C=) | |
2 | g.237361097G>T | CA67855060 | COL6A3 | c.5592+24C>A (n.5592+24C>A) c.6210+24C>A (n.6210+24C>A) c.4389+24C>A (n.4389+24C>A) c.5610+24C>A (n.5610+24C>A) c.4989+24C>A (n.4989+24C>A) c.5709+24C>A (n.5709+24C>A) c.6207+24C>A (n.6207+24C>A) c.3804+24C>A (n.3804+24C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.237361098G>A | CA540464242 | COL6A3 | c.5592+23C>T (n.5592+23C>T) c.6210+23C>T (n.6210+23C>T) c.4389+23C>T (n.4389+23C>T) c.5610+23C>T (n.5610+23C>T) c.4989+23C>T (n.4989+23C>T) c.5709+23C>T (n.5709+23C>T) c.6207+23C>T (n.6207+23C>T) c.3804+23C>T (n.3804+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361098G= | CA1337618519 | COL6A3 | c.5592+23C= (n.5592+23C=) c.6210+23C= (n.6210+23C=) c.4389+23C= (n.4389+23C=) c.5610+23C= (n.5610+23C=) c.4989+23C= (n.4989+23C=) c.5709+23C= (n.5709+23C=) c.6207+23C= (n.6207+23C=) c.3804+23C= (n.3804+23C=) | |
2 | g.237361098G>T | CA2663795380 | COL6A3 | c.5592+23C>A (n.5592+23C>A) c.6210+23C>A (n.6210+23C>A) c.4389+23C>A (n.4389+23C>A) c.5610+23C>A (n.5610+23C>A) c.4989+23C>A (n.4989+23C>A) c.5709+23C>A (n.5709+23C>A) c.6207+23C>A (n.6207+23C>A) c.3804+23C>A (n.3804+23C>A) | gnomAD v4 |
2 | g.237361099G>A | CA2188411 | COL6A3 | c.5592+22C>T (n.5592+22C>T) c.6210+22C>T (n.6210+22C>T) c.4389+22C>T (n.4389+22C>T) c.5610+22C>T (n.5610+22C>T) c.4989+22C>T (n.4989+22C>T) c.5709+22C>T (n.5709+22C>T) c.6207+22C>T (n.6207+22C>T) c.3804+22C>T (n.3804+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361099G= | CA1337618525 | COL6A3 | c.5592+22C= (n.5592+22C=) c.6210+22C= (n.6210+22C=) c.4389+22C= (n.4389+22C=) c.5610+22C= (n.5610+22C=) c.4989+22C= (n.4989+22C=) c.5709+22C= (n.5709+22C=) c.6207+22C= (n.6207+22C=) c.3804+22C= (n.3804+22C=) | |
2 | g.237361099G>T | CA2188410 | COL6A3 | c.5592+22C>A (n.5592+22C>A) c.6210+22C>A (n.6210+22C>A) c.4389+22C>A (n.4389+22C>A) c.5610+22C>A (n.5610+22C>A) c.4989+22C>A (n.4989+22C>A) c.5709+22C>A (n.5709+22C>A) c.6207+22C>A (n.6207+22C>A) c.3804+22C>A (n.3804+22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361100A= | CA1337618530 | COL6A3 | c.5592+21T= (n.5592+21T=) c.6210+21T= (n.6210+21T=) c.4389+21T= (n.4389+21T=) c.5610+21T= (n.5610+21T=) c.4989+21T= (n.4989+21T=) c.5709+21T= (n.5709+21T=) c.6207+21T= (n.6207+21T=) c.3804+21T= (n.3804+21T=) | |
2 | g.237361100A>G | CA2188412 | COL6A3 | c.5592+21T>C (n.5592+21T>C) c.6210+21T>C (n.6210+21T>C) c.4389+21T>C (n.4389+21T>C) c.5610+21T>C (n.5610+21T>C) c.4989+21T>C (n.4989+21T>C) c.5709+21T>C (n.5709+21T>C) c.6207+21T>C (n.6207+21T>C) c.3804+21T>C (n.3804+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361101C>A | CA2663795391 | COL6A3 | c.5592+20G>T (n.5592+20G>T) c.6210+20G>T (n.6210+20G>T) c.4389+20G>T (n.4389+20G>T) c.5610+20G>T (n.5610+20G>T) c.4989+20G>T (n.4989+20G>T) c.5709+20G>T (n.5709+20G>T) c.6207+20G>T (n.6207+20G>T) c.3804+20G>T (n.3804+20G>T) | gnomAD v4 |
2 | g.237361101C>T | CA2663795392 | COL6A3 | c.5592+20G>A (n.5592+20G>A) c.6210+20G>A (n.6210+20G>A) c.4389+20G>A (n.4389+20G>A) c.5610+20G>A (n.5610+20G>A) c.4989+20G>A (n.4989+20G>A) c.5709+20G>A (n.5709+20G>A) c.6207+20G>A (n.6207+20G>A) c.3804+20G>A (n.3804+20G>A) | gnomAD v4 |
2 | g.237361103_237361113del | CA2740096506 | COL6A3 | c.5592+9_5592+19del (n.5592+9_5592+19del) c.6210+9_6210+19del (n.6210+9_6210+19del) c.4389+9_4389+19del (n.4389+9_4389+19del) c.5610+9_5610+19del (n.5610+9_5610+19del) c.4989+9_4989+19del (n.4989+9_4989+19del) c.5709+9_5709+19del (n.5709+9_5709+19del) c.6207+9_6207+19del (n.6207+9_6207+19del) c.3804+9_3804+19del (n.3804+9_3804+19del) | ClinVar |
2 | g.237361103A= | CA1337618531 | COL6A3 | c.5592+18T= (n.5592+18T=) c.6210+18T= (n.6210+18T=) c.4389+18T= (n.4389+18T=) c.5610+18T= (n.5610+18T=) c.4989+18T= (n.4989+18T=) c.5709+18T= (n.5709+18T=) c.6207+18T= (n.6207+18T=) c.3804+18T= (n.3804+18T=) | |
2 | g.237361103A>C | CA540464246 | COL6A3 | c.5592+18T>G (n.5592+18T>G) c.6210+18T>G (n.6210+18T>G) c.4389+18T>G (n.4389+18T>G) c.5610+18T>G (n.5610+18T>G) c.4989+18T>G (n.4989+18T>G) c.5709+18T>G (n.5709+18T>G) c.6207+18T>G (n.6207+18T>G) c.3804+18T>G (n.3804+18T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361103A>G | CA2663795396 | COL6A3 | c.5592+18T>C (n.5592+18T>C) c.6210+18T>C (n.6210+18T>C) c.4389+18T>C (n.4389+18T>C) c.5610+18T>C (n.5610+18T>C) c.4989+18T>C (n.4989+18T>C) c.5709+18T>C (n.5709+18T>C) c.6207+18T>C (n.6207+18T>C) c.3804+18T>C (n.3804+18T>C) | gnomAD v4 |
2 | g.237361104A= | CA1337618533 | COL6A3 | c.5592+17T= (n.5592+17T=) c.6210+17T= (n.6210+17T=) c.4389+17T= (n.4389+17T=) c.5610+17T= (n.5610+17T=) c.4989+17T= (n.4989+17T=) c.5709+17T= (n.5709+17T=) c.6207+17T= (n.6207+17T=) c.3804+17T= (n.3804+17T=) | |
2 | g.237361104A>T | CA67855082 | COL6A3 | c.5592+17T>A (n.5592+17T>A) c.6210+17T>A (n.6210+17T>A) c.4389+17T>A (n.4389+17T>A) c.5610+17T>A (n.5610+17T>A) c.4989+17T>A (n.4989+17T>A) c.5709+17T>A (n.5709+17T>A) c.6207+17T>A (n.6207+17T>A) c.3804+17T>A (n.3804+17T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.237361106A>G | CA2573135592 | COL6A3 | c.5592+15T>C (n.5592+15T>C) c.6210+15T>C (n.6210+15T>C) c.4389+15T>C (n.4389+15T>C) c.5610+15T>C (n.5610+15T>C) c.4989+15T>C (n.4989+15T>C) c.5709+15T>C (n.5709+15T>C) c.6207+15T>C (n.6207+15T>C) c.3804+15T>C (n.3804+15T>C) | ClinVar dbSNP |
2 | g.237361107C>A | CA2577289867 | COL6A3 | c.5592+14G>T (n.5592+14G>T) c.6210+14G>T (n.6210+14G>T) c.4389+14G>T (n.4389+14G>T) c.5610+14G>T (n.5610+14G>T) c.4989+14G>T (n.4989+14G>T) c.5709+14G>T (n.5709+14G>T) c.6207+14G>T (n.6207+14G>T) c.3804+14G>T (n.3804+14G>T) | |
2 | g.237361107C>T | CA2754787389 | COL6A3 | c.5592+14G>A (n.5592+14G>A) c.6210+14G>A (n.6210+14G>A) c.4389+14G>A (n.4389+14G>A) c.5610+14G>A (n.5610+14G>A) c.4989+14G>A (n.4989+14G>A) c.5709+14G>A (n.5709+14G>A) c.6207+14G>A (n.6207+14G>A) c.3804+14G>A (n.3804+14G>A) | |
2 | g.237361108A= | CA1337618535 | COL6A3 | c.5592+13T= (n.5592+13T=) c.6210+13T= (n.6210+13T=) c.4389+13T= (n.4389+13T=) c.5610+13T= (n.5610+13T=) c.4989+13T= (n.4989+13T=) c.5709+13T= (n.5709+13T=) c.6207+13T= (n.6207+13T=) c.3804+13T= (n.3804+13T=) | |
2 | g.237361108A>C | CA540464249 | COL6A3 | c.5592+13T>G (n.5592+13T>G) c.6210+13T>G (n.6210+13T>G) c.4389+13T>G (n.4389+13T>G) c.5610+13T>G (n.5610+13T>G) c.4989+13T>G (n.4989+13T>G) c.5709+13T>G (n.5709+13T>G) c.6207+13T>G (n.6207+13T>G) c.3804+13T>G (n.3804+13T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361108A>G | CA1337618536 | COL6A3 | c.5592+13T>C (n.5592+13T>C) c.6210+13T>C (n.6210+13T>C) c.4389+13T>C (n.4389+13T>C) c.5610+13T>C (n.5610+13T>C) c.4989+13T>C (n.4989+13T>C) c.5709+13T>C (n.5709+13T>C) c.6207+13T>C (n.6207+13T>C) c.3804+13T>C (n.3804+13T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.237361109A>G | CA2663795406 | COL6A3 | c.5592+12T>C (n.5592+12T>C) c.6210+12T>C (n.6210+12T>C) c.4389+12T>C (n.4389+12T>C) c.5610+12T>C (n.5610+12T>C) c.4989+12T>C (n.4989+12T>C) c.5709+12T>C (n.5709+12T>C) c.6207+12T>C (n.6207+12T>C) c.3804+12T>C (n.3804+12T>C) | gnomAD v4 |
2 | g.237361110T>G | CA2577289868 | COL6A3 | c.5592+11A>C (n.5592+11A>C) c.6210+11A>C (n.6210+11A>C) c.4389+11A>C (n.4389+11A>C) c.5610+11A>C (n.5610+11A>C) c.4989+11A>C (n.4989+11A>C) c.5709+11A>C (n.5709+11A>C) c.6207+11A>C (n.6207+11A>C) c.3804+11A>C (n.3804+11A>C) | |
2 | g.237361111T>C | CA2188413 | COL6A3 | c.5592+10A>G (n.5592+10A>G) c.6210+10A>G (n.6210+10A>G) c.4389+10A>G (n.4389+10A>G) c.5610+10A>G (n.5610+10A>G) c.4989+10A>G (n.4989+10A>G) c.5709+10A>G (n.5709+10A>G) c.6207+10A>G (n.6207+10A>G) c.3804+10A>G (n.3804+10A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361111T= | CA1337618541 | COL6A3 | c.5592+10A= (n.5592+10A=) c.6210+10A= (n.6210+10A=) c.4389+10A= (n.4389+10A=) c.5610+10A= (n.5610+10A=) c.4989+10A= (n.4989+10A=) c.5709+10A= (n.5709+10A=) c.6207+10A= (n.6207+10A=) c.3804+10A= (n.3804+10A=) | |
2 | g.237361114T>C | CA2188414 | COL6A3 | c.5592+7A>G (n.5592+7A>G) c.6210+7A>G (n.6210+7A>G) c.4389+7A>G (n.4389+7A>G) c.5610+7A>G (n.5610+7A>G) c.4989+7A>G (n.4989+7A>G) c.5709+7A>G (n.5709+7A>G) c.6207+7A>G (n.6207+7A>G) c.3804+7A>G (n.3804+7A>G) | dbSNP ExAC gnomAD v2 |
2 | g.237361114T>G | CA2663795411 | COL6A3 | c.5592+7A>C (n.5592+7A>C) c.6210+7A>C (n.6210+7A>C) c.4389+7A>C (n.4389+7A>C) c.5610+7A>C (n.5610+7A>C) c.4989+7A>C (n.4989+7A>C) c.5709+7A>C (n.5709+7A>C) c.6207+7A>C (n.6207+7A>C) c.3804+7A>C (n.3804+7A>C) | gnomAD v4 |
2 | g.237361114T= | CA1337618545 | COL6A3 | c.5592+7A= (n.5592+7A=) c.6210+7A= (n.6210+7A=) c.4389+7A= (n.4389+7A=) c.5610+7A= (n.5610+7A=) c.4989+7A= (n.4989+7A=) c.5709+7A= (n.5709+7A=) c.6207+7A= (n.6207+7A=) c.3804+7A= (n.3804+7A=) | |
2 | g.237361116C>A | CA10606951 | COL6A3 | c.5592+5G>T (n.5592+5G>T) c.6210+5G>T (n.6210+5G>T) c.4389+5G>T (n.4389+5G>T) c.5610+5G>T (n.5610+5G>T) c.4989+5G>T (n.4989+5G>T) c.5709+5G>T (n.5709+5G>T) c.6207+5G>T (n.6207+5G>T) c.3804+5G>T (n.3804+5G>T) | ClinVar dbSNP |
2 | g.237361116C= | CA1337618551 | COL6A3 | c.5592+5G= (n.5592+5G=) c.6210+5G= (n.6210+5G=) c.4389+5G= (n.4389+5G=) c.5610+5G= (n.5610+5G=) c.4989+5G= (n.4989+5G=) c.5709+5G= (n.5709+5G=) c.6207+5G= (n.6207+5G=) c.3804+5G= (n.3804+5G=) | |
2 | g.237361116C>T | CA1337618553 | COL6A3 | c.5592+5G>A (n.5592+5G>A) c.6210+5G>A (n.6210+5G>A) c.4389+5G>A (n.4389+5G>A) c.5610+5G>A (n.5610+5G>A) c.4989+5G>A (n.4989+5G>A) c.5709+5G>A (n.5709+5G>A) c.6207+5G>A (n.6207+5G>A) c.3804+5G>A (n.3804+5G>A) | ClinVar dbSNP |
2 | g.237361118dup | CA2697550611 | COL6A3 | c.5592+4dup (n.5592+4dup) c.6210+4dup (n.6210+4dup) c.4389+4dup (n.4389+4dup) c.5610+4dup (n.5610+4dup) c.4989+4dup (n.4989+4dup) c.5709+4dup (n.5709+4dup) c.6207+4dup (n.6207+4dup) c.3804+4dup (n.3804+4dup) | ClinVar |
2 | g.237361118T>C | CA1337618560 | COL6A3 | c.5592+3A>G (n.5592+3A>G) c.6210+3A>G (n.6210+3A>G) c.4389+3A>G (n.4389+3A>G) c.5610+3A>G (n.5610+3A>G) c.4989+3A>G (n.4989+3A>G) c.5709+3A>G (n.5709+3A>G) c.6207+3A>G (n.6207+3A>G) c.3804+3A>G (n.3804+3A>G) | dbSNP gnomAD v4 |
2 | g.237361118T= | CA1337618558 | COL6A3 | c.5592+3A= (n.5592+3A=) c.6210+3A= (n.6210+3A=) c.4389+3A= (n.4389+3A=) c.5610+3A= (n.5610+3A=) c.4989+3A= (n.4989+3A=) c.5709+3A= (n.5709+3A=) c.6207+3A= (n.6207+3A=) c.3804+3A= (n.3804+3A=) | |
2 | g.237361119del | CA2586965611 | COL6A3 | c.5592+2del (n.5592+2del) c.6210+2del (n.6210+2del) c.4389+2del (n.4389+2del) c.5610+2del (n.5610+2del) c.4989+2del (n.4989+2del) c.5709+2del (n.5709+2del) c.6207+2del (n.6207+2del) c.3804+2del (n.3804+2del) | |
2 | g.237361119A>C | CA351217353 | COL6A3 | c.5592+2T>G (n.5592+2T>G) c.6210+2T>G (n.6210+2T>G) c.4389+2T>G (n.4389+2T>G) c.5610+2T>G (n.5610+2T>G) c.4989+2T>G (n.4989+2T>G) c.5709+2T>G (n.5709+2T>G) c.6207+2T>G (n.6207+2T>G) c.3804+2T>G (n.3804+2T>G) | |
2 | g.237361119A>G | CA351217358 | COL6A3 | c.5592+2T>C (n.5592+2T>C) c.6210+2T>C (n.6210+2T>C) c.4389+2T>C (n.4389+2T>C) c.5610+2T>C (n.5610+2T>C) c.4989+2T>C (n.4989+2T>C) c.5709+2T>C (n.5709+2T>C) c.6207+2T>C (n.6207+2T>C) c.3804+2T>C (n.3804+2T>C) | |
2 | g.237361119A>T | CA351217356 | COL6A3 | c.5592+2T>A (n.5592+2T>A) c.6210+2T>A (n.6210+2T>A) c.4389+2T>A (n.4389+2T>A) c.5610+2T>A (n.5610+2T>A) c.4989+2T>A (n.4989+2T>A) c.5709+2T>A (n.5709+2T>A) c.6207+2T>A (n.6207+2T>A) c.3804+2T>A (n.3804+2T>A) | |
2 | g.237361120C>A | CA351217359 | COL6A3 | c.5592+1G>T (n.5592+1G>T) c.6210+1G>T (n.6210+1G>T) c.4389+1G>T (n.4389+1G>T) c.5610+1G>T (n.5610+1G>T) c.4989+1G>T (n.4989+1G>T) c.5709+1G>T (n.5709+1G>T) c.6207+1G>T (n.6207+1G>T) c.3804+1G>T (n.3804+1G>T) | ClinVar dbSNP |
2 | g.237361120C= | CA1337618569 | COL6A3 | c.5592+1G= (n.5592+1G=) c.6210+1G= (n.6210+1G=) c.4389+1G= (n.4389+1G=) c.5610+1G= (n.5610+1G=) c.4989+1G= (n.4989+1G=) c.5709+1G= (n.5709+1G=) c.6207+1G= (n.6207+1G=) c.3804+1G= (n.3804+1G=) | |
2 | g.237361120C>G | CA351217361 | COL6A3 | c.5592+1G>C (n.5592+1G>C) c.6210+1G>C (n.6210+1G>C) c.4389+1G>C (n.4389+1G>C) c.5610+1G>C (n.5610+1G>C) c.4989+1G>C (n.4989+1G>C) c.5709+1G>C (n.5709+1G>C) c.6207+1G>C (n.6207+1G>C) c.3804+1G>C (n.3804+1G>C) | |
2 | g.237361120C>T | CA222636 | COL6A3 | c.5592+1G>A (n.5592+1G>A) c.6210+1G>A (n.6210+1G>A) c.4389+1G>A (n.4389+1G>A) c.5610+1G>A (n.5610+1G>A) c.4989+1G>A (n.4989+1G>A) c.5709+1G>A (n.5709+1G>A) c.6207+1G>A (n.6207+1G>A) c.3804+1G>A (n.3804+1G>A) | ClinVar dbSNP |
2 | g.237361121G>A | CA2188415 | COL6A3 | c.5592C>T (p.Pro1864=) c.6210C>T (p.Pro2070=) c.4389C>T (p.Pro1463=) c.5610C>T (p.Pro1870=) c.4989C>T (p.Pro1663=) c.5709C>T (p.Pro1903=) c.6207C>T (p.Pro2069=) c.3804C>T (p.Pro1268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361121G>C | CA431678494 | COL6A3 | c.5592C>G (p.Pro1864=) c.6210C>G (p.Pro2070=) c.4389C>G (p.Pro1463=) c.5610C>G (p.Pro1870=) c.4989C>G (p.Pro1663=) c.5709C>G (p.Pro1903=) c.6207C>G (p.Pro2069=) c.3804C>G (p.Pro1268=) | |
2 | g.237361121G= | CA1337618582 | COL6A3 | c.5592C= (p.Pro1864=) c.6210C= (p.Pro2070=) c.4389C= (p.Pro1463=) c.5610C= (p.Pro1870=) c.4989C= (p.Pro1663=) c.5709C= (p.Pro1903=) c.6207C= (p.Pro2069=) c.3804C= (p.Pro1268=) | |
2 | g.237361121G>T | CA2188416 | COL6A3 | c.5592C>A (p.Pro1864=) c.6210C>A (p.Pro2070=) c.4389C>A (p.Pro1463=) c.5610C>A (p.Pro1870=) c.4989C>A (p.Pro1663=) c.5709C>A (p.Pro1903=) c.6207C>A (p.Pro2069=) c.3804C>A (p.Pro1268=) | dbSNP ExAC gnomAD v2 |
2 | g.237361122G>A | CA2188417 | COL6A3 | c.5591C>T (p.Pro1864Leu) c.6209C>T (p.Pro2070Leu) c.4388C>T (p.Pro1463Leu) c.5609C>T (p.Pro1870Leu) c.4988C>T (p.Pro1663Leu) c.5708C>T (p.Pro1903Leu) c.6206C>T (p.Pro2069Leu) c.3803C>T (p.Pro1268Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361122G>C | CA351217369 | COL6A3 | c.5591C>G (p.Pro1864Arg) c.6209C>G (p.Pro2070Arg) c.4388C>G (p.Pro1463Arg) c.5609C>G (p.Pro1870Arg) c.4988C>G (p.Pro1663Arg) c.5708C>G (p.Pro1903Arg) c.6206C>G (p.Pro2069Arg) c.3803C>G (p.Pro1268Arg) | |
2 | g.237361122G= | CA1337618595 | COL6A3 | c.5591C= (p.Pro1864=) c.6209C= (p.Pro2070=) c.4388C= (p.Pro1463=) c.5609C= (p.Pro1870=) c.4988C= (p.Pro1663=) c.5708C= (p.Pro1903=) c.6206C= (p.Pro2069=) c.3803C= (p.Pro1268=) | |
2 | g.237361122G>T | CA351217370 | COL6A3 | c.5591C>A (p.Pro1864His) c.6209C>A (p.Pro2070His) c.4388C>A (p.Pro1463His) c.5609C>A (p.Pro1870His) c.4988C>A (p.Pro1663His) c.5708C>A (p.Pro1903His) c.6206C>A (p.Pro2069His) c.3803C>A (p.Pro1268His) | |
2 | g.237361123G>A | CA2188418 | COL6A3 | c.5590C>T (p.Pro1864Ser) c.6208C>T (p.Pro2070Ser) c.4387C>T (p.Pro1463Ser) c.5608C>T (p.Pro1870Ser) c.4987C>T (p.Pro1663Ser) c.5707C>T (p.Pro1903Ser) c.6205C>T (p.Pro2069Ser) c.3802C>T (p.Pro1268Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361123G>C | CA351217372 | COL6A3 | c.5590C>G (p.Pro1864Ala) c.6208C>G (p.Pro2070Ala) c.4387C>G (p.Pro1463Ala) c.5608C>G (p.Pro1870Ala) c.4987C>G (p.Pro1663Ala) c.5707C>G (p.Pro1903Ala) c.6205C>G (p.Pro2069Ala) c.3802C>G (p.Pro1268Ala) | |
2 | g.237361123G= | CA1337618597 | COL6A3 | c.5590C= (p.Pro1864=) c.6208C= (p.Pro2070=) c.4387C= (p.Pro1463=) c.5608C= (p.Pro1870=) c.4987C= (p.Pro1663=) c.5707C= (p.Pro1903=) c.6205C= (p.Pro2069=) c.3802C= (p.Pro1268=) | |
2 | g.237361123G>T | CA351217373 | COL6A3 | c.5590C>A (p.Pro1864Thr) c.6208C>A (p.Pro2070Thr) c.4387C>A (p.Pro1463Thr) c.5608C>A (p.Pro1870Thr) c.4987C>A (p.Pro1663Thr) c.5707C>A (p.Pro1903Thr) c.6205C>A (p.Pro2069Thr) c.3802C>A (p.Pro1268Thr) | |
2 | g.237361124T>A | CA431678495 | COL6A3 | c.5589A>T (p.Gly1863=) c.6207A>T (p.Gly2069=) c.4386A>T (p.Gly1462=) c.5607A>T (p.Gly1869=) c.4986A>T (p.Gly1662=) c.5706A>T (p.Gly1902=) c.6204A>T (p.Gly2068=) c.3801A>T (p.Gly1267=) | |
2 | g.237361124T>C | CA431678496 | COL6A3 | c.5589A>G (p.Gly1863=) c.6207A>G (p.Gly2069=) c.4386A>G (p.Gly1462=) c.5607A>G (p.Gly1869=) c.4986A>G (p.Gly1662=) c.5706A>G (p.Gly1902=) c.6204A>G (p.Gly2068=) c.3801A>G (p.Gly1267=) | dbSNP |
2 | g.237361124T>G | CA431678497 | COL6A3 | c.5589A>C (p.Gly1863=) c.6207A>C (p.Gly2069=) c.4386A>C (p.Gly1462=) c.5607A>C (p.Gly1869=) c.4986A>C (p.Gly1662=) c.5706A>C (p.Gly1902=) c.6204A>C (p.Gly2068=) c.3801A>C (p.Gly1267=) | |
2 | g.237361125C>A | CA351217377 | COL6A3 | c.5588G>T (p.Gly1863Val) c.6206G>T (p.Gly2069Val) c.4385G>T (p.Gly1462Val) c.5606G>T (p.Gly1869Val) c.4985G>T (p.Gly1662Val) c.5705G>T (p.Gly1902Val) c.6203G>T (p.Gly2068Val) c.3800G>T (p.Gly1267Val) | |
2 | g.237361125C>G | CA351217378 | COL6A3 | c.5588G>C (p.Gly1863Ala) c.6206G>C (p.Gly2069Ala) c.4385G>C (p.Gly1462Ala) c.5606G>C (p.Gly1869Ala) c.4985G>C (p.Gly1662Ala) c.5705G>C (p.Gly1902Ala) c.6203G>C (p.Gly2068Ala) c.3800G>C (p.Gly1267Ala) | |
2 | g.237361125C>T | CA351217376 | COL6A3 | c.5588G>A (p.Gly1863Glu) c.6206G>A (p.Gly2069Glu) c.4385G>A (p.Gly1462Glu) c.5606G>A (p.Gly1869Glu) c.4985G>A (p.Gly1662Glu) c.5705G>A (p.Gly1902Glu) c.6203G>A (p.Gly2068Glu) c.3800G>A (p.Gly1267Glu) | COSMIC |
2 | g.237361126C>A | CA351217379 | COL6A3 | c.5587G>T (p.Gly1863Ter) c.6205G>T (p.Gly2069Ter) c.4384G>T (p.Gly1462Ter) c.5605G>T (p.Gly1869Ter) c.4984G>T (p.Gly1662Ter) c.5704G>T (p.Gly1902Ter) c.6202G>T (p.Gly2068Ter) c.3799G>T (p.Gly1267Ter) | |
2 | g.237361126C>G | CA351217380 | COL6A3 | c.5587G>C (p.Gly1863Arg) c.6205G>C (p.Gly2069Arg) c.4384G>C (p.Gly1462Arg) c.5605G>C (p.Gly1869Arg) c.4984G>C (p.Gly1662Arg) c.5704G>C (p.Gly1902Arg) c.6202G>C (p.Gly2068Arg) c.3799G>C (p.Gly1267Arg) | |
2 | g.237361126C>T | CA351217381 | COL6A3 | c.5587G>A (p.Gly1863Arg) c.6205G>A (p.Gly2069Arg) c.4384G>A (p.Gly1462Arg) c.5605G>A (p.Gly1869Arg) c.4984G>A (p.Gly1662Arg) c.5704G>A (p.Gly1902Arg) c.6202G>A (p.Gly2068Arg) c.3799G>A (p.Gly1267Arg) | gnomAD v4 |
2 | g.237361127A= | CA1337618600 | COL6A3 | c.5586T= (p.Gly1862=) c.6204T= (p.Gly2068=) c.4383T= (p.Gly1461=) c.5604T= (p.Gly1868=) c.4983T= (p.Gly1661=) c.5703T= (p.Gly1901=) c.6201T= (p.Gly2067=) c.3798T= (p.Gly1266=) | |
2 | g.237361127A>C | CA431678498 | COL6A3 | c.5586T>G (p.Gly1862=) c.6204T>G (p.Gly2068=) c.4383T>G (p.Gly1461=) c.5604T>G (p.Gly1868=) c.4983T>G (p.Gly1661=) c.5703T>G (p.Gly1901=) c.6201T>G (p.Gly2067=) c.3798T>G (p.Gly1266=) | dbSNP |
2 | g.237361127A>G | CA431678499 | COL6A3 | c.5586T>C (p.Gly1862=) c.6204T>C (p.Gly2068=) c.4383T>C (p.Gly1461=) c.5604T>C (p.Gly1868=) c.4983T>C (p.Gly1661=) c.5703T>C (p.Gly1901=) c.6201T>C (p.Gly2067=) c.3798T>C (p.Gly1266=) | |
2 | g.237361127A>T | CA431678500 | COL6A3 | c.5586T>A (p.Gly1862=) c.6204T>A (p.Gly2068=) c.4383T>A (p.Gly1461=) c.5604T>A (p.Gly1868=) c.4983T>A (p.Gly1661=) c.5703T>A (p.Gly1901=) c.6201T>A (p.Gly2067=) c.3798T>A (p.Gly1266=) | |
2 | g.237361128C>A | CA67855108 | COL6A3 | c.5585G>T (p.Gly1862Val) c.6203G>T (p.Gly2068Val) c.4382G>T (p.Gly1461Val) c.5603G>T (p.Gly1868Val) c.4982G>T (p.Gly1661Val) c.5702G>T (p.Gly1901Val) c.6200G>T (p.Gly2067Val) c.3797G>T (p.Gly1266Val) | dbSNP |
2 | g.237361128C= | CA1337618602 | COL6A3 | c.5585G= (p.Gly1862=) c.6203G= (p.Gly2068=) c.4382G= (p.Gly1461=) c.5603G= (p.Gly1868=) c.4982G= (p.Gly1661=) c.5702G= (p.Gly1901=) c.6200G= (p.Gly2067=) c.3797G= (p.Gly1266=) | |
2 | g.237361128C>G | CA351217383 | COL6A3 | c.5585G>C (p.Gly1862Ala) c.6203G>C (p.Gly2068Ala) c.4382G>C (p.Gly1461Ala) c.5603G>C (p.Gly1868Ala) c.4982G>C (p.Gly1661Ala) c.5702G>C (p.Gly1901Ala) c.6200G>C (p.Gly2067Ala) c.3797G>C (p.Gly1266Ala) | |
2 | g.237361128C>T | CA351217384 | COL6A3 | c.5585G>A (p.Gly1862Asp) c.6203G>A (p.Gly2068Asp) c.4382G>A (p.Gly1461Asp) c.5603G>A (p.Gly1868Asp) c.4982G>A (p.Gly1661Asp) c.5702G>A (p.Gly1901Asp) c.6200G>A (p.Gly2067Asp) c.3797G>A (p.Gly1266Asp) | ClinVar dbSNP |
2 | g.237361129C>A | CA351217389 | COL6A3 | c.5584G>T (p.Gly1862Cys) c.6202G>T (p.Gly2068Cys) c.4381G>T (p.Gly1461Cys) c.5602G>T (p.Gly1868Cys) c.4981G>T (p.Gly1661Cys) c.5701G>T (p.Gly1901Cys) c.6199G>T (p.Gly2067Cys) c.3796G>T (p.Gly1266Cys) | ClinVar |
2 | g.237361129C>G | CA351217386 | COL6A3 | c.5584G>C (p.Gly1862Arg) c.6202G>C (p.Gly2068Arg) c.4381G>C (p.Gly1461Arg) c.5602G>C (p.Gly1868Arg) c.4981G>C (p.Gly1661Arg) c.5701G>C (p.Gly1901Arg) c.6199G>C (p.Gly2067Arg) c.3796G>C (p.Gly1266Arg) | |
2 | g.237361129C>T | CA351217387 | COL6A3 | c.5584G>A (p.Gly1862Ser) c.6202G>A (p.Gly2068Ser) c.4381G>A (p.Gly1461Ser) c.5602G>A (p.Gly1868Ser) c.4981G>A (p.Gly1661Ser) c.5701G>A (p.Gly1901Ser) c.6199G>A (p.Gly2067Ser) c.3796G>A (p.Gly1266Ser) | |
2 | g.237361130C>A | CA351217391 | COL6A3 | c.5583G>T (p.Glu1861Asp) c.6201G>T (p.Glu2067Asp) c.4380G>T (p.Glu1460Asp) c.5601G>T (p.Glu1867Asp) c.4980G>T (p.Glu1660Asp) c.5700G>T (p.Glu1900Asp) c.6198G>T (p.Glu2066Asp) c.3795G>T (p.Glu1265Asp) | |
2 | g.237361130C= | CA1337618607 | COL6A3 | c.5583G= (p.Glu1861=) c.6201G= (p.Glu2067=) c.4380G= (p.Glu1460=) c.5601G= (p.Glu1867=) c.4980G= (p.Glu1660=) c.5700G= (p.Glu1900=) c.6198G= (p.Glu2066=) c.3795G= (p.Glu1265=) | |
2 | g.237361130C>G | CA67855109 | COL6A3 | c.5583G>C (p.Glu1861Asp) c.6201G>C (p.Glu2067Asp) c.4380G>C (p.Glu1460Asp) c.5601G>C (p.Glu1867Asp) c.4980G>C (p.Glu1660Asp) c.5700G>C (p.Glu1900Asp) c.6198G>C (p.Glu2066Asp) c.3795G>C (p.Glu1265Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361130C>T | CA431678501 | COL6A3 | c.5583G>A (p.Glu1861=) c.6201G>A (p.Glu2067=) c.4380G>A (p.Glu1460=) c.5601G>A (p.Glu1867=) c.4980G>A (p.Glu1660=) c.5700G>A (p.Glu1900=) c.6198G>A (p.Glu2066=) c.3795G>A (p.Glu1265=) | dbSNP gnomAD v4 |
2 | g.237361131T>A | CA351217394 | COL6A3 | c.5582A>T (p.Glu1861Val) c.6200A>T (p.Glu2067Val) c.4379A>T (p.Glu1460Val) c.5600A>T (p.Glu1867Val) c.4979A>T (p.Glu1660Val) c.5699A>T (p.Glu1900Val) c.6197A>T (p.Glu2066Val) c.3794A>T (p.Glu1265Val) | |
2 | g.237361131T>C | CA351217396 | COL6A3 | c.5582A>G (p.Glu1861Gly) c.6200A>G (p.Glu2067Gly) c.4379A>G (p.Glu1460Gly) c.5600A>G (p.Glu1867Gly) c.4979A>G (p.Glu1660Gly) c.5699A>G (p.Glu1900Gly) c.6197A>G (p.Glu2066Gly) c.3794A>G (p.Glu1265Gly) | |
2 | g.237361131T>G | CA351217397 | COL6A3 | c.5582A>C (p.Glu1861Ala) c.6200A>C (p.Glu2067Ala) c.4379A>C (p.Glu1460Ala) c.5600A>C (p.Glu1867Ala) c.4979A>C (p.Glu1660Ala) c.5699A>C (p.Glu1900Ala) c.6197A>C (p.Glu2066Ala) c.3794A>C (p.Glu1265Ala) | gnomAD v4 |
2 | g.237361132C>A | CA351217400 | COL6A3 | c.5581G>T (p.Glu1861Ter) c.6199G>T (p.Glu2067Ter) c.4378G>T (p.Glu1460Ter) c.5599G>T (p.Glu1867Ter) c.4978G>T (p.Glu1660Ter) c.5698G>T (p.Glu1900Ter) c.6196G>T (p.Glu2066Ter) c.3793G>T (p.Glu1265Ter) | |
2 | g.237361132C= | CA1337618613 | COL6A3 | c.5581G= (p.Glu1861=) c.6199G= (p.Glu2067=) c.4378G= (p.Glu1460=) c.5599G= (p.Glu1867=) c.4978G= (p.Glu1660=) c.5698G= (p.Glu1900=) c.6196G= (p.Glu2066=) c.3793G= (p.Glu1265=) | |
2 | g.237361132C>G | CA351217403 | COL6A3 | c.5581G>C (p.Glu1861Gln) c.6199G>C (p.Glu2067Gln) c.4378G>C (p.Glu1460Gln) c.5599G>C (p.Glu1867Gln) c.4978G>C (p.Glu1660Gln) c.5698G>C (p.Glu1900Gln) c.6196G>C (p.Glu2066Gln) c.3793G>C (p.Glu1265Gln) | |
2 | g.237361132C>T | CA2188419 | COL6A3 | c.5581G>A (p.Glu1861Lys) c.6199G>A (p.Glu2067Lys) c.4378G>A (p.Glu1460Lys) c.5599G>A (p.Glu1867Lys) c.4978G>A (p.Glu1660Lys) c.5698G>A (p.Glu1900Lys) c.6196G>A (p.Glu2066Lys) c.3793G>A (p.Glu1265Lys) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.237361133A= | CA1337618619 | COL6A3 | c.5580T= (p.Asp1860=) c.6198T= (p.Asp2066=) c.4377T= (p.Asp1459=) c.5598T= (p.Asp1866=) c.4977T= (p.Asp1659=) c.5697T= (p.Asp1899=) c.6195T= (p.Asp2065=) c.3792T= (p.Asp1264=) | |
2 | g.237361133A>C | CA2188420 | COL6A3 | c.5580T>G (p.Asp1860Glu) c.6198T>G (p.Asp2066Glu) c.4377T>G (p.Asp1459Glu) c.5598T>G (p.Asp1866Glu) c.4977T>G (p.Asp1659Glu) c.5697T>G (p.Asp1899Glu) c.6195T>G (p.Asp2065Glu) c.3792T>G (p.Asp1264Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361133A>G | CA2188421 | COL6A3 | c.5580T>C (p.Asp1860=) c.6198T>C (p.Asp2066=) c.4377T>C (p.Asp1459=) c.5598T>C (p.Asp1866=) c.4977T>C (p.Asp1659=) c.5697T>C (p.Asp1899=) c.6195T>C (p.Asp2065=) c.3792T>C (p.Asp1264=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361133A>T | CA351217406 | COL6A3 | c.5580T>A (p.Asp1860Glu) c.6198T>A (p.Asp2066Glu) c.4377T>A (p.Asp1459Glu) c.5598T>A (p.Asp1866Glu) c.4977T>A (p.Asp1659Glu) c.5697T>A (p.Asp1899Glu) c.6195T>A (p.Asp2065Glu) c.3792T>A (p.Asp1264Glu) | |
2 | g.237361134T>A | CA351217407 | COL6A3 | c.5579A>T (p.Asp1860Val) c.6197A>T (p.Asp2066Val) c.4376A>T (p.Asp1459Val) c.5597A>T (p.Asp1866Val) c.4976A>T (p.Asp1659Val) c.5696A>T (p.Asp1899Val) c.6194A>T (p.Asp2065Val) c.3791A>T (p.Asp1264Val) | |
2 | g.237361134T>C | CA351217408 | COL6A3 | c.5579A>G (p.Asp1860Gly) c.6197A>G (p.Asp2066Gly) c.4376A>G (p.Asp1459Gly) c.5597A>G (p.Asp1866Gly) c.4976A>G (p.Asp1659Gly) c.5696A>G (p.Asp1899Gly) c.6194A>G (p.Asp2065Gly) c.3791A>G (p.Asp1264Gly) | |
2 | g.237361134T>G | CA351217409 | COL6A3 | c.5579A>C (p.Asp1860Ala) c.6197A>C (p.Asp2066Ala) c.4376A>C (p.Asp1459Ala) c.5597A>C (p.Asp1866Ala) c.4976A>C (p.Asp1659Ala) c.5696A>C (p.Asp1899Ala) c.6194A>C (p.Asp2065Ala) c.3791A>C (p.Asp1264Ala) | |
2 | g.237361135C>A | CA351217410 | COL6A3 | c.5578G>T (p.Asp1860Tyr) c.6196G>T (p.Asp2066Tyr) c.4375G>T (p.Asp1459Tyr) c.5596G>T (p.Asp1866Tyr) c.4975G>T (p.Asp1659Tyr) c.5695G>T (p.Asp1899Tyr) c.6193G>T (p.Asp2065Tyr) c.3790G>T (p.Asp1264Tyr) | |
2 | g.237361135C>G | CA351217411 | COL6A3 | c.5578G>C (p.Asp1860His) c.6196G>C (p.Asp2066His) c.4375G>C (p.Asp1459His) c.5596G>C (p.Asp1866His) c.4975G>C (p.Asp1659His) c.5695G>C (p.Asp1899His) c.6193G>C (p.Asp2065His) c.3790G>C (p.Asp1264His) | |
2 | g.237361135C>T | CA351217412 | COL6A3 | c.5578G>A (p.Asp1860Asn) c.6196G>A (p.Asp2066Asn) c.4375G>A (p.Asp1459Asn) c.5596G>A (p.Asp1866Asn) c.4975G>A (p.Asp1659Asn) c.5695G>A (p.Asp1899Asn) c.6193G>A (p.Asp2065Asn) c.3790G>A (p.Asp1264Asn) | |
2 | g.237361136A>C | CA431678502 | COL6A3 | c.5577T>G (p.Gly1859=) c.6195T>G (p.Gly2065=) c.4374T>G (p.Gly1458=) c.5595T>G (p.Gly1865=) c.4974T>G (p.Gly1658=) c.5694T>G (p.Gly1898=) c.6192T>G (p.Gly2064=) c.3789T>G (p.Gly1263=) | |
2 | g.237361136A>G | CA431678503 | COL6A3 | c.5577T>C (p.Gly1859=) c.6195T>C (p.Gly2065=) c.4374T>C (p.Gly1458=) c.5595T>C (p.Gly1865=) c.4974T>C (p.Gly1658=) c.5694T>C (p.Gly1898=) c.6192T>C (p.Gly2064=) c.3789T>C (p.Gly1263=) | |
2 | g.237361136A>T | CA431678504 | COL6A3 | c.5577T>A (p.Gly1859=) c.6195T>A (p.Gly2065=) c.4374T>A (p.Gly1458=) c.5595T>A (p.Gly1865=) c.4974T>A (p.Gly1658=) c.5694T>A (p.Gly1898=) c.6192T>A (p.Gly2064=) c.3789T>A (p.Gly1263=) | |
2 | g.237361137C>A | CA351217413 | COL6A3 | c.5576G>T (p.Gly1859Val) c.6194G>T (p.Gly2065Val) c.4373G>T (p.Gly1458Val) c.5594G>T (p.Gly1865Val) c.4973G>T (p.Gly1658Val) c.5693G>T (p.Gly1898Val) c.6191G>T (p.Gly2064Val) c.3788G>T (p.Gly1263Val) | |
2 | g.237361137C= | CA1337618622 | COL6A3 | c.5576G= (p.Gly1859=) c.6194G= (p.Gly2065=) c.4373G= (p.Gly1458=) c.5594G= (p.Gly1865=) c.4973G= (p.Gly1658=) c.5693G= (p.Gly1898=) c.6191G= (p.Gly2064=) c.3788G= (p.Gly1263=) | |
2 | g.237361137C>G | CA351217414 | COL6A3 | c.5576G>C (p.Gly1859Ala) c.6194G>C (p.Gly2065Ala) c.4373G>C (p.Gly1458Ala) c.5594G>C (p.Gly1865Ala) c.4973G>C (p.Gly1658Ala) c.5693G>C (p.Gly1898Ala) c.6191G>C (p.Gly2064Ala) c.3788G>C (p.Gly1263Ala) | |
2 | g.237361137C>T | CA295335 | COL6A3 | c.5576G>A (p.Gly1859Asp) c.6194G>A (p.Gly2065Asp) c.4373G>A (p.Gly1458Asp) c.5594G>A (p.Gly1865Asp) c.4973G>A (p.Gly1658Asp) c.5693G>A (p.Gly1898Asp) c.6191G>A (p.Gly2064Asp) c.3788G>A (p.Gly1263Asp) | dbSNP COSMIC |
2 | g.237361138C>A | CA351217416 | COL6A3 | c.5575G>T (p.Gly1859Cys) c.6193G>T (p.Gly2065Cys) c.4372G>T (p.Gly1458Cys) c.5593G>T (p.Gly1865Cys) c.4972G>T (p.Gly1658Cys) c.5692G>T (p.Gly1898Cys) c.6190G>T (p.Gly2064Cys) c.3787G>T (p.Gly1263Cys) | |
2 | g.237361138C= | CA1337618630 | COL6A3 | c.5575G= (p.Gly1859=) c.6193G= (p.Gly2065=) c.4372G= (p.Gly1458=) c.5593G= (p.Gly1865=) c.4972G= (p.Gly1658=) c.5692G= (p.Gly1898=) c.6190G= (p.Gly2064=) c.3787G= (p.Gly1263=) | |
2 | g.237361138C>G | CA10604911 | COL6A3 | c.5575G>C (p.Gly1859Arg) c.6193G>C (p.Gly2065Arg) c.4372G>C (p.Gly1458Arg) c.5593G>C (p.Gly1865Arg) c.4972G>C (p.Gly1658Arg) c.5692G>C (p.Gly1898Arg) c.6190G>C (p.Gly2064Arg) c.3787G>C (p.Gly1263Arg) | ClinVar dbSNP |
2 | g.237361138C>T | CA215987 | COL6A3 | c.5575G>A (p.Gly1859Ser) c.6193G>A (p.Gly2065Ser) c.4372G>A (p.Gly1458Ser) c.5593G>A (p.Gly1865Ser) c.4972G>A (p.Gly1658Ser) c.5692G>A (p.Gly1898Ser) c.6190G>A (p.Gly2064Ser) c.3787G>A (p.Gly1263Ser) | ClinVar dbSNP |
2 | g.237361139A= | CA1337618636 | COL6A3 | c.5574T= (p.Pro1858=) c.6192T= (p.Pro2064=) c.4371T= (p.Pro1457=) c.5592T= (p.Pro1864=) c.4971T= (p.Pro1657=) c.5691T= (p.Pro1897=) c.6189T= (p.Pro2063=) c.3786T= (p.Pro1262=) | |
2 | g.237361139A>C | CA431678505 | COL6A3 | c.5574T>G (p.Pro1858=) c.6192T>G (p.Pro2064=) c.4371T>G (p.Pro1457=) c.5592T>G (p.Pro1864=) c.4971T>G (p.Pro1657=) c.5691T>G (p.Pro1897=) c.6189T>G (p.Pro2063=) c.3786T>G (p.Pro1262=) | |
2 | g.237361139A>G | CA67855151 | COL6A3 | c.5574T>C (p.Pro1858=) c.6192T>C (p.Pro2064=) c.4371T>C (p.Pro1457=) c.5592T>C (p.Pro1864=) c.4971T>C (p.Pro1657=) c.5691T>C (p.Pro1897=) c.6189T>C (p.Pro2063=) c.3786T>C (p.Pro1262=) | dbSNP gnomAD v4 |
2 | g.237361139A>T | CA431678506 | COL6A3 | c.5574T>A (p.Pro1858=) c.6192T>A (p.Pro2064=) c.4371T>A (p.Pro1457=) c.5592T>A (p.Pro1864=) c.4971T>A (p.Pro1657=) c.5691T>A (p.Pro1897=) c.6189T>A (p.Pro2063=) c.3786T>A (p.Pro1262=) | |
2 | g.237361140G>A | CA351217427 | COL6A3 | c.5573C>T (p.Pro1858Leu) c.6191C>T (p.Pro2064Leu) c.4370C>T (p.Pro1457Leu) c.5591C>T (p.Pro1864Leu) c.4970C>T (p.Pro1657Leu) c.5690C>T (p.Pro1897Leu) c.6188C>T (p.Pro2063Leu) c.3785C>T (p.Pro1262Leu) | |
2 | g.237361140G>C | CA351217424 | COL6A3 | c.5573C>G (p.Pro1858Arg) c.6191C>G (p.Pro2064Arg) c.4370C>G (p.Pro1457Arg) c.5591C>G (p.Pro1864Arg) c.4970C>G (p.Pro1657Arg) c.5690C>G (p.Pro1897Arg) c.6188C>G (p.Pro2063Arg) c.3785C>G (p.Pro1262Arg) | |
2 | g.237361140G>T | CA351217426 | COL6A3 | c.5573C>A (p.Pro1858His) c.6191C>A (p.Pro2064His) c.4370C>A (p.Pro1457His) c.5591C>A (p.Pro1864His) c.4970C>A (p.Pro1657His) c.5690C>A (p.Pro1897His) c.6188C>A (p.Pro2063His) c.3785C>A (p.Pro1262His) | |
2 | g.237361141G>A | CA2188422 | COL6A3 | c.5572C>T (p.Pro1858Ser) c.6190C>T (p.Pro2064Ser) c.4369C>T (p.Pro1457Ser) c.5590C>T (p.Pro1864Ser) c.4969C>T (p.Pro1657Ser) c.5689C>T (p.Pro1897Ser) c.6187C>T (p.Pro2063Ser) c.3784C>T (p.Pro1262Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361141G>C | CA351217430 | COL6A3 | c.5572C>G (p.Pro1858Ala) c.6190C>G (p.Pro2064Ala) c.4369C>G (p.Pro1457Ala) c.5590C>G (p.Pro1864Ala) c.4969C>G (p.Pro1657Ala) c.5689C>G (p.Pro1897Ala) c.6187C>G (p.Pro2063Ala) c.3784C>G (p.Pro1262Ala) | gnomAD v4 |
2 | g.237361141G= | CA1337618638 | COL6A3 | c.5572C= (p.Pro1858=) c.6190C= (p.Pro2064=) c.4369C= (p.Pro1457=) c.5590C= (p.Pro1864=) c.4969C= (p.Pro1657=) c.5689C= (p.Pro1897=) c.6187C= (p.Pro2063=) c.3784C= (p.Pro1262=) | |
2 | g.237361141G>T | CA351217432 | COL6A3 | c.5572C>A (p.Pro1858Thr) c.6190C>A (p.Pro2064Thr) c.4369C>A (p.Pro1457Thr) c.5590C>A (p.Pro1864Thr) c.4969C>A (p.Pro1657Thr) c.5689C>A (p.Pro1897Thr) c.6187C>A (p.Pro2063Thr) c.3784C>A (p.Pro1262Thr) | |
2 | g.237361142A>C | CA351217434 | COL6A3 | c.5571T>G (p.Tyr1857Ter) c.6189T>G (p.Tyr2063Ter) c.4368T>G (p.Tyr1456Ter) c.5589T>G (p.Tyr1863Ter) c.4968T>G (p.Tyr1656Ter) c.5688T>G (p.Tyr1896Ter) c.6186T>G (p.Tyr2062Ter) c.3783T>G (p.Tyr1261Ter) | |
2 | g.237361142A>G | CA431678507 | COL6A3 | c.5571T>C (p.Tyr1857=) c.6189T>C (p.Tyr2063=) c.4368T>C (p.Tyr1456=) c.5589T>C (p.Tyr1863=) c.4968T>C (p.Tyr1656=) c.5688T>C (p.Tyr1896=) c.6186T>C (p.Tyr2062=) c.3783T>C (p.Tyr1261=) | |
2 | g.237361142A>T | CA351217436 | COL6A3 | c.5571T>A (p.Tyr1857Ter) c.6189T>A (p.Tyr2063Ter) c.4368T>A (p.Tyr1456Ter) c.5589T>A (p.Tyr1863Ter) c.4968T>A (p.Tyr1656Ter) c.5688T>A (p.Tyr1896Ter) c.6186T>A (p.Tyr2062Ter) c.3783T>A (p.Tyr1261Ter) | |
2 | g.237361143T>A | CA351217438 | COL6A3 | c.5570A>T (p.Tyr1857Phe) c.6188A>T (p.Tyr2063Phe) c.4367A>T (p.Tyr1456Phe) c.5588A>T (p.Tyr1863Phe) c.4967A>T (p.Tyr1656Phe) c.5687A>T (p.Tyr1896Phe) c.6185A>T (p.Tyr2062Phe) c.3782A>T (p.Tyr1261Phe) | |
2 | g.237361143T>C | CA351217439 | COL6A3 | c.5570A>G (p.Tyr1857Cys) c.6188A>G (p.Tyr2063Cys) c.4367A>G (p.Tyr1456Cys) c.5588A>G (p.Tyr1863Cys) c.4967A>G (p.Tyr1656Cys) c.5687A>G (p.Tyr1896Cys) c.6185A>G (p.Tyr2062Cys) c.3782A>G (p.Tyr1261Cys) | ClinVar dbSNP |
2 | g.237361143T>G | CA351217440 | COL6A3 | c.5570A>C (p.Tyr1857Ser) c.6188A>C (p.Tyr2063Ser) c.4367A>C (p.Tyr1456Ser) c.5588A>C (p.Tyr1863Ser) c.4967A>C (p.Tyr1656Ser) c.5687A>C (p.Tyr1896Ser) c.6185A>C (p.Tyr2062Ser) c.3782A>C (p.Tyr1261Ser) | |
2 | g.237361144A>C | CA351217441 | COL6A3 | c.5569T>G (p.Tyr1857Asp) c.6187T>G (p.Tyr2063Asp) c.4366T>G (p.Tyr1456Asp) c.5587T>G (p.Tyr1863Asp) c.4966T>G (p.Tyr1656Asp) c.5686T>G (p.Tyr1896Asp) c.6184T>G (p.Tyr2062Asp) c.3781T>G (p.Tyr1261Asp) | |
2 | g.237361144A>G | CA351217442 | COL6A3 | c.5569T>C (p.Tyr1857His) c.6187T>C (p.Tyr2063His) c.4366T>C (p.Tyr1456His) c.5587T>C (p.Tyr1863His) c.4966T>C (p.Tyr1656His) c.5686T>C (p.Tyr1896His) c.6184T>C (p.Tyr2062His) c.3781T>C (p.Tyr1261His) | |
2 | g.237361144A>T | CA351217443 | COL6A3 | c.5569T>A (p.Tyr1857Asn) c.6187T>A (p.Tyr2063Asn) c.4366T>A (p.Tyr1456Asn) c.5587T>A (p.Tyr1863Asn) c.4966T>A (p.Tyr1656Asn) c.5686T>A (p.Tyr1896Asn) c.6184T>A (p.Tyr2062Asn) c.3781T>A (p.Tyr1261Asn) | |
2 | g.237361145G>A | CA431678510 | COL6A3 | c.5568C>T (p.Gly1856=) c.6186C>T (p.Gly2062=) c.4365C>T (p.Gly1455=) c.5586C>T (p.Gly1862=) c.4965C>T (p.Gly1655=) c.5685C>T (p.Gly1895=) c.6183C>T (p.Gly2061=) c.3780C>T (p.Gly1260=) | COSMIC |
2 | g.237361145G>C | CA431678508 | COL6A3 | c.5568C>G (p.Gly1856=) c.6186C>G (p.Gly2062=) c.4365C>G (p.Gly1455=) c.5586C>G (p.Gly1862=) c.4965C>G (p.Gly1655=) c.5685C>G (p.Gly1895=) c.6183C>G (p.Gly2061=) c.3780C>G (p.Gly1260=) | |
2 | g.237361145G>T | CA431678509 | COL6A3 | c.5568C>A (p.Gly1856=) c.6186C>A (p.Gly2062=) c.4365C>A (p.Gly1455=) c.5586C>A (p.Gly1862=) c.4965C>A (p.Gly1655=) c.5685C>A (p.Gly1895=) c.6183C>A (p.Gly2061=) c.3780C>A (p.Gly1260=) | |
2 | g.237361146C>A | CA351217444 | COL6A3 | c.5567G>T (p.Gly1856Val) c.6185G>T (p.Gly2062Val) c.4364G>T (p.Gly1455Val) c.5585G>T (p.Gly1862Val) c.4964G>T (p.Gly1655Val) c.5684G>T (p.Gly1895Val) c.6182G>T (p.Gly2061Val) c.3779G>T (p.Gly1260Val) | |
2 | g.237361146C>G | CA351217449 | COL6A3 | c.5567G>C (p.Gly1856Ala) c.6185G>C (p.Gly2062Ala) c.4364G>C (p.Gly1455Ala) c.5585G>C (p.Gly1862Ala) c.4964G>C (p.Gly1655Ala) c.5684G>C (p.Gly1895Ala) c.6182G>C (p.Gly2061Ala) c.3779G>C (p.Gly1260Ala) | |
2 | g.237361146C>T | CA351217448 | COL6A3 | c.5567G>A (p.Gly1856Asp) c.6185G>A (p.Gly2062Asp) c.4364G>A (p.Gly1455Asp) c.5585G>A (p.Gly1862Asp) c.4964G>A (p.Gly1655Asp) c.5684G>A (p.Gly1895Asp) c.6182G>A (p.Gly2061Asp) c.3779G>A (p.Gly1260Asp) | ClinVar dbSNP |
2 | g.237361147C>A | CA351217450 | COL6A3 | c.5566G>T (p.Gly1856Cys) c.6184G>T (p.Gly2062Cys) c.4363G>T (p.Gly1455Cys) c.5584G>T (p.Gly1862Cys) c.4963G>T (p.Gly1655Cys) c.5683G>T (p.Gly1895Cys) c.6181G>T (p.Gly2061Cys) c.3778G>T (p.Gly1260Cys) | |
2 | g.237361147C>G | CA351217451 | COL6A3 | c.5566G>C (p.Gly1856Arg) c.6184G>C (p.Gly2062Arg) c.4363G>C (p.Gly1455Arg) c.5584G>C (p.Gly1862Arg) c.4963G>C (p.Gly1655Arg) c.5683G>C (p.Gly1895Arg) c.6181G>C (p.Gly2061Arg) c.3778G>C (p.Gly1260Arg) | |
2 | g.237361147C>T | CA351217452 | COL6A3 | c.5566G>A (p.Gly1856Ser) c.6184G>A (p.Gly2062Ser) c.4363G>A (p.Gly1455Ser) c.5584G>A (p.Gly1862Ser) c.4963G>A (p.Gly1655Ser) c.5683G>A (p.Gly1895Ser) c.6181G>A (p.Gly2061Ser) c.3778G>A (p.Gly1260Ser) | |
2 | g.237361148T>A | CA431678511 | COL6A3 | c.5565A>T (p.Arg1855=) c.6183A>T (p.Arg2061=) c.4362A>T (p.Arg1454=) c.5583A>T (p.Arg1861=) c.4962A>T (p.Arg1654=) c.5682A>T (p.Arg1894=) c.6180A>T (p.Arg2060=) c.3777A>T (p.Arg1259=) | |
2 | g.237361148T>C | CA431678512 | COL6A3 | c.5565A>G (p.Arg1855=) c.6183A>G (p.Arg2061=) c.4362A>G (p.Arg1454=) c.5583A>G (p.Arg1861=) c.4962A>G (p.Arg1654=) c.5682A>G (p.Arg1894=) c.6180A>G (p.Arg2060=) c.3777A>G (p.Arg1259=) | |
2 | g.237361148T>G | CA431678513 | COL6A3 | c.5565A>C (p.Arg1855=) c.6183A>C (p.Arg2061=) c.4362A>C (p.Arg1454=) c.5583A>C (p.Arg1861=) c.4962A>C (p.Arg1654=) c.5682A>C (p.Arg1894=) c.6180A>C (p.Arg2060=) c.3777A>C (p.Arg1259=) | |
2 | g.237361149C>A | CA351217454 | COL6A3 | c.5564G>T (p.Arg1855Leu) c.6182G>T (p.Arg2061Leu) c.4361G>T (p.Arg1454Leu) c.5582G>T (p.Arg1861Leu) c.4961G>T (p.Arg1654Leu) c.5681G>T (p.Arg1894Leu) c.6179G>T (p.Arg2060Leu) c.3776G>T (p.Arg1259Leu) | |
2 | g.237361149C= | CA1337618643 | COL6A3 | c.5564G= (p.Arg1855=) c.6182G= (p.Arg2061=) c.4361G= (p.Arg1454=) c.5582G= (p.Arg1861=) c.4961G= (p.Arg1654=) c.5681G= (p.Arg1894=) c.6179G= (p.Arg2060=) c.3776G= (p.Arg1259=) | |
2 | g.237361149C>G | CA351217458 | COL6A3 | c.5564G>C (p.Arg1855Pro) c.6182G>C (p.Arg2061Pro) c.4361G>C (p.Arg1454Pro) c.5582G>C (p.Arg1861Pro) c.4961G>C (p.Arg1654Pro) c.5681G>C (p.Arg1894Pro) c.6179G>C (p.Arg2060Pro) c.3776G>C (p.Arg1259Pro) | |
2 | g.237361149C>T | CA2188423 | COL6A3 | c.5564G>A (p.Arg1855Gln) c.6182G>A (p.Arg2061Gln) c.4361G>A (p.Arg1454Gln) c.5582G>A (p.Arg1861Gln) c.4961G>A (p.Arg1654Gln) c.5681G>A (p.Arg1894Gln) c.6179G>A (p.Arg2060Gln) c.3776G>A (p.Arg1259Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.237361150G>A | CA205930 | COL6A3 | c.5563C>T (p.Arg1855Ter) c.6181C>T (p.Arg2061Ter) c.4360C>T (p.Arg1454Ter) c.5581C>T (p.Arg1861Ter) c.4960C>T (p.Arg1654Ter) c.5680C>T (p.Arg1894Ter) c.6178C>T (p.Arg2060Ter) c.3775C>T (p.Arg1259Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.237361150G>C | CA351217468 | COL6A3 | c.5563C>G (p.Arg1855Gly) c.6181C>G (p.Arg2061Gly) c.4360C>G (p.Arg1454Gly) c.5581C>G (p.Arg1861Gly) c.4960C>G (p.Arg1654Gly) c.5680C>G (p.Arg1894Gly) c.6178C>G (p.Arg2060Gly) c.3775C>G (p.Arg1259Gly) | |
2 | g.237361150G= | CA1337618651 | COL6A3 | c.5563C= (p.Arg1855=) c.6181C= (p.Arg2061=) c.4360C= (p.Arg1454=) c.5581C= (p.Arg1861=) c.4960C= (p.Arg1654=) c.5680C= (p.Arg1894=) c.6178C= (p.Arg2060=) c.3775C= (p.Arg1259=) | |
2 | g.237361150G>T | CA431678514 | COL6A3 | c.5563C>A (p.Arg1855=) c.6181C>A (p.Arg2061=) c.4360C>A (p.Arg1454=) c.5581C>A (p.Arg1861=) c.4960C>A (p.Arg1654=) c.5680C>A (p.Arg1894=) c.6178C>A (p.Arg2060=) c.3775C>A (p.Arg1259=) | |
2 | g.237361151G>A | CA2188424 | COL6A3 | c.5562C>T (p.Tyr1854=) c.6180C>T (p.Tyr2060=) c.4359C>T (p.Tyr1453=) c.5580C>T (p.Tyr1860=) c.4959C>T (p.Tyr1653=) c.5679C>T (p.Tyr1893=) c.6177C>T (p.Tyr2059=) c.3774C>T (p.Tyr1258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361151G>C | CA351217472 | COL6A3 | c.5562C>G (p.Tyr1854Ter) c.6180C>G (p.Tyr2060Ter) c.4359C>G (p.Tyr1453Ter) c.5580C>G (p.Tyr1860Ter) c.4959C>G (p.Tyr1653Ter) c.5679C>G (p.Tyr1893Ter) c.6177C>G (p.Tyr2059Ter) c.3774C>G (p.Tyr1258Ter) | |
2 | g.237361151G= | CA1337618656 | COL6A3 | c.5562C= (p.Tyr1854=) c.6180C= (p.Tyr2060=) c.4359C= (p.Tyr1453=) c.5580C= (p.Tyr1860=) c.4959C= (p.Tyr1653=) c.5679C= (p.Tyr1893=) c.6177C= (p.Tyr2059=) c.3774C= (p.Tyr1258=) | |
2 | g.237361151G>T | CA351217473 | COL6A3 | c.5562C>A (p.Tyr1854Ter) c.6180C>A (p.Tyr2060Ter) c.4359C>A (p.Tyr1453Ter) c.5580C>A (p.Tyr1860Ter) c.4959C>A (p.Tyr1653Ter) c.5679C>A (p.Tyr1893Ter) c.6177C>A (p.Tyr2059Ter) c.3774C>A (p.Tyr1258Ter) | |
2 | g.237361152T>A | CA351217480 | COL6A3 | c.5561A>T (p.Tyr1854Phe) c.6179A>T (p.Tyr2060Phe) c.4358A>T (p.Tyr1453Phe) c.5579A>T (p.Tyr1860Phe) c.4958A>T (p.Tyr1653Phe) c.5678A>T (p.Tyr1893Phe) c.6176A>T (p.Tyr2059Phe) c.3773A>T (p.Tyr1258Phe) | |
2 | g.237361152T>C | CA351217479 | COL6A3 | c.5561A>G (p.Tyr1854Cys) c.6179A>G (p.Tyr2060Cys) c.4358A>G (p.Tyr1453Cys) c.5579A>G (p.Tyr1860Cys) c.4958A>G (p.Tyr1653Cys) c.5678A>G (p.Tyr1893Cys) c.6176A>G (p.Tyr2059Cys) c.3773A>G (p.Tyr1258Cys) | |
2 | g.237361152T>G | CA351217478 | COL6A3 | c.5561A>C (p.Tyr1854Ser) c.6179A>C (p.Tyr2060Ser) c.4358A>C (p.Tyr1453Ser) c.5579A>C (p.Tyr1860Ser) c.4958A>C (p.Tyr1653Ser) c.5678A>C (p.Tyr1893Ser) c.6176A>C (p.Tyr2059Ser) c.3773A>C (p.Tyr1258Ser) | |
2 | g.237361153A>C | CA351217496 | COL6A3 | c.5560T>G (p.Tyr1854Asp) c.6178T>G (p.Tyr2060Asp) c.4357T>G (p.Tyr1453Asp) c.5578T>G (p.Tyr1860Asp) c.4957T>G (p.Tyr1653Asp) c.5677T>G (p.Tyr1893Asp) c.6175T>G (p.Tyr2059Asp) c.3772T>G (p.Tyr1258Asp) | |
2 | g.237361153A>G | CA351217482 | COL6A3 | c.5560T>C (p.Tyr1854His) c.6178T>C (p.Tyr2060His) c.4357T>C (p.Tyr1453His) c.5578T>C (p.Tyr1860His) c.4957T>C (p.Tyr1653His) c.5677T>C (p.Tyr1893His) c.6175T>C (p.Tyr2059His) c.3772T>C (p.Tyr1258His) | gnomAD v4 |
2 | g.237361153A>T | CA351217489 | COL6A3 | c.5560T>A (p.Tyr1854Asn) c.6178T>A (p.Tyr2060Asn) c.4357T>A (p.Tyr1453Asn) c.5578T>A (p.Tyr1860Asn) c.4957T>A (p.Tyr1653Asn) c.5677T>A (p.Tyr1893Asn) c.6175T>A (p.Tyr2059Asn) c.3772T>A (p.Tyr1258Asn) | |
2 | g.237361154_237361183del | CA2573129725 | COL6A3 | c.5539-8_5560del c.6157-8_6178del c.4336-8_4357del c.5557-8_5578del c.4936-8_4957del c.5656-8_5677del c.6154-8_6175del c.3751-8_3772del | |
2 | g.237361154G>A | CA431678515 | COL6A3 | c.5559C>T (p.Gly1853=) c.6177C>T (p.Gly2059=) c.4356C>T (p.Gly1452=) c.5577C>T (p.Gly1859=) c.4956C>T (p.Gly1652=) c.5676C>T (p.Gly1892=) c.6174C>T (p.Gly2058=) c.3771C>T (p.Gly1257=) | |
2 | g.237361154G>C | CA431678517 | COL6A3 | c.5559C>G (p.Gly1853=) c.6177C>G (p.Gly2059=) c.4356C>G (p.Gly1452=) c.5577C>G (p.Gly1859=) c.4956C>G (p.Gly1652=) c.5676C>G (p.Gly1892=) c.6174C>G (p.Gly2058=) c.3771C>G (p.Gly1257=) | |
2 | g.237361154G>T | CA431678516 | COL6A3 | c.5559C>A (p.Gly1853=) c.6177C>A (p.Gly2059=) c.4356C>A (p.Gly1452=) c.5577C>A (p.Gly1859=) c.4956C>A (p.Gly1652=) c.5676C>A (p.Gly1892=) c.6174C>A (p.Gly2058=) c.3771C>A (p.Gly1257=) | COSMIC |
2 | g.237361155C>A | CA351217497 | COL6A3 | c.5558G>T (p.Gly1853Val) c.6176G>T (p.Gly2059Val) c.4355G>T (p.Gly1452Val) c.5576G>T (p.Gly1859Val) c.4955G>T (p.Gly1652Val) c.5675G>T (p.Gly1892Val) c.6173G>T (p.Gly2058Val) c.3770G>T (p.Gly1257Val) | |
2 | g.237361155C>G | CA351217498 | COL6A3 | c.5558G>C (p.Gly1853Ala) c.6176G>C (p.Gly2059Ala) c.4355G>C (p.Gly1452Ala) c.5576G>C (p.Gly1859Ala) c.4955G>C (p.Gly1652Ala) c.5675G>C (p.Gly1892Ala) c.6173G>C (p.Gly2058Ala) c.3770G>C (p.Gly1257Ala) | |
2 | g.237361155C>T | CA351217499 | COL6A3 | c.5558G>A (p.Gly1853Asp) c.6176G>A (p.Gly2059Asp) c.4355G>A (p.Gly1452Asp) c.5576G>A (p.Gly1859Asp) c.4955G>A (p.Gly1652Asp) c.5675G>A (p.Gly1892Asp) c.6173G>A (p.Gly2058Asp) c.3770G>A (p.Gly1257Asp) | |
2 | g.237361156C>A | CA10604870 | COL6A3 | c.5557G>T (p.Gly1853Cys) c.6175G>T (p.Gly2059Cys) c.4354G>T (p.Gly1452Cys) c.5575G>T (p.Gly1859Cys) c.4954G>T (p.Gly1652Cys) c.5674G>T (p.Gly1892Cys) c.6172G>T (p.Gly2058Cys) c.3769G>T (p.Gly1257Cys) | ClinVar dbSNP |
2 | g.237361156C= | CA1337618665 | COL6A3 | c.5557G= (p.Gly1853=) c.6175G= (p.Gly2059=) c.4354G= (p.Gly1452=) c.5575G= (p.Gly1859=) c.4954G= (p.Gly1652=) c.5674G= (p.Gly1892=) c.6172G= (p.Gly2058=) c.3769G= (p.Gly1257=) | |
2 | g.237361156C>G | CA351217501 | COL6A3 | c.5557G>C (p.Gly1853Arg) c.6175G>C (p.Gly2059Arg) c.4354G>C (p.Gly1452Arg) c.5575G>C (p.Gly1859Arg) c.4954G>C (p.Gly1652Arg) c.5674G>C (p.Gly1892Arg) c.6172G>C (p.Gly2058Arg) c.3769G>C (p.Gly1257Arg) | |
2 | g.237361156C>T | CA2188425 | COL6A3 | c.5557G>A (p.Gly1853Ser) c.6175G>A (p.Gly2059Ser) c.4354G>A (p.Gly1452Ser) c.5575G>A (p.Gly1859Ser) c.4954G>A (p.Gly1652Ser) c.5674G>A (p.Gly1892Ser) c.6172G>A (p.Gly2058Ser) c.3769G>A (p.Gly1257Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.237361157G>A | CA2188426 | COL6A3 | c.5556C>T (p.Asp1852=) c.6174C>T (p.Asp2058=) c.4353C>T (p.Asp1451=) c.5574C>T (p.Asp1858=) c.4953C>T (p.Asp1651=) c.5673C>T (p.Asp1891=) c.6171C>T (p.Asp2057=) c.3768C>T (p.Asp1256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.237361157G>C | CA351217504 | COL6A3 | c.5556C>G (p.Asp1852Glu) c.6174C>G (p.Asp2058Glu) c.4353C>G (p.Asp1451Glu) c.5574C>G (p.Asp1858Glu) c.4953C>G (p.Asp1651Glu) c.5673C>G (p.Asp1891Glu) c.6171C>G (p.Asp2057Glu) c.3768C>G (p.Asp1256Glu) | |
2 | g.237361157G= | CA1337618675 | COL6A3 | c.5556C= (p.Asp1852=) c.6174C= (p.Asp2058=) c.4353C= (p.Asp1451=) c.5574C= (p.Asp1858=) c.4953C= (p.Asp1651=) c.5673C= (p.Asp1891=) c.6171C= (p.Asp2057=) c.3768C= (p.Asp1256=) | |
2 | g.237361157G>T | CA351217505 | COL6A3 | c.5556C>A (p.Asp1852Glu) c.6174C>A (p.Asp2058Glu) c.4353C>A (p.Asp1451Glu) c.5574C>A (p.Asp1858Glu) c.4953C>A (p.Asp1651Glu) c.5673C>A (p.Asp1891Glu) c.6171C>A (p.Asp2057Glu) c.3768C>A (p.Asp1256Glu) | |
2 | g.237361158T>A | CA351217507 | COL6A3 | c.5555A>T (p.Asp1852Val) c.6173A>T (p.Asp2058Val) c.4352A>T (p.Asp1451Val) c.5573A>T (p.Asp1858Val) c.4952A>T (p.Asp1651Val) c.5672A>T (p.Asp1891Val) c.6170A>T (p.Asp2057Val) c.3767A>T (p.Asp1256Val) | |
2 | g.237361158T>C | CA351217508 | COL6A3 | c.5555A>G (p.Asp1852Gly) c.6173A>G (p.Asp2058Gly) c.4352A>G (p.Asp1451Gly) c.5573A>G (p.Asp1858Gly) c.4952A>G (p.Asp1651Gly) c.5672A>G (p.Asp1891Gly) c.6170A>G (p.Asp2057Gly) c.3767A>G (p.Asp1256Gly) | |
2 | g.237361158T>G | CA351217509 | COL6A3 | c.5555A>C (p.Asp1852Ala) c.6173A>C (p.Asp2058Ala) c.4352A>C (p.Asp1451Ala) c.5573A>C (p.Asp1858Ala) c.4952A>C (p.Asp1651Ala) c.5672A>C (p.Asp1891Ala) c.6170A>C (p.Asp2057Ala) c.3767A>C (p.Asp1256Ala) | |
2 | g.237361159C>A | CA351217513 | COL6A3 | c.5554G>T (p.Asp1852Tyr) c.6172G>T (p.Asp2058Tyr) c.4351G>T (p.Asp1451Tyr) c.5572G>T (p.Asp1858Tyr) c.4951G>T (p.Asp1651Tyr) c.5671G>T (p.Asp1891Tyr) c.6169G>T (p.Asp2057Tyr) c.3766G>T (p.Asp1256Tyr) | |
2 | g.237361159C>G | CA351217517 | COL6A3 | c.5554G>C (p.Asp1852His) c.6172G>C (p.Asp2058His) c.4351G>C (p.Asp1451His) c.5572G>C (p.Asp1858His) c.4951G>C (p.Asp1651His) c.5671G>C (p.Asp1891His) c.6169G>C (p.Asp2057His) c.3766G>C (p.Asp1256His) | |
2 | g.237361159C>T | CA351217515 | COL6A3 | c.5554G>A (p.Asp1852Asn) c.6172G>A (p.Asp2058Asn) c.4351G>A (p.Asp1451Asn) c.5572G>A (p.Asp1858Asn) c.4951G>A (p.Asp1651Asn) c.5671G>A (p.Asp1891Asn) c.6169G>A (p.Asp2057Asn) c.3766G>A (p.Asp1256Asn) | |
2 | g.237361160T>A | CA351217518 | COL6A3 | c.5553A>T (p.Glu1851Asp) c.6171A>T (p.Glu2057Asp) c.4350A>T (p.Glu1450Asp) c.5571A>T (p.Glu1857Asp) c.4950A>T (p.Glu1650Asp) c.5670A>T (p.Glu1890Asp) c.6168A>T (p.Glu2056Asp) c.3765A>T (p.Glu1255Asp) | |
2 | g.237361160T>C | CA431678518 | COL6A3 | c.5553A>G (p.Glu1851=) c.6171A>G (p.Glu2057=) c.4350A>G (p.Glu1450=) c.5571A>G (p.Glu1857=) c.4950A>G (p.Glu1650=) c.5670A>G (p.Glu1890=) c.6168A>G (p.Glu2056=) c.3765A>G (p.Glu1255=) | |
2 | g.237361160T>G | CA351217519 | COL6A3 | c.5553A>C (p.Glu1851Asp) c.6171A>C (p.Glu2057Asp) c.4350A>C (p.Glu1450Asp) c.5571A>C (p.Glu1857Asp) c.4950A>C (p.Glu1650Asp) c.5670A>C (p.Glu1890Asp) c.6168A>C (p.Glu2056Asp) c.3765A>C (p.Glu1255Asp) | |
2 | g.237361161T>A | CA351217520 | COL6A3 | c.5552A>T (p.Glu1851Val) c.6170A>T (p.Glu2057Val) c.4349A>T (p.Glu1450Val) c.5570A>T (p.Glu1857Val) c.4949A>T (p.Glu1650Val) c.5669A>T (p.Glu1890Val) c.6167A>T (p.Glu2056Val) c.3764A>T (p.Glu1255Val) | |
2 | g.237361161T>C | CA351217522 | COL6A3 | c.5552A>G (p.Glu1851Gly) c.6170A>G (p.Glu2057Gly) c.4349A>G (p.Glu1450Gly) c.5570A>G (p.Glu1857Gly) c.4949A>G (p.Glu1650Gly) c.5669A>G (p.Glu1890Gly) c.6167A>G (p.Glu2056Gly) c.3764A>G (p.Glu1255Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361161T>G | CA351217523 | COL6A3 | c.5552A>C (p.Glu1851Ala) c.6170A>C (p.Glu2057Ala) c.4349A>C (p.Glu1450Ala) c.5570A>C (p.Glu1857Ala) c.4949A>C (p.Glu1650Ala) c.5669A>C (p.Glu1890Ala) c.6167A>C (p.Glu2056Ala) c.3764A>C (p.Glu1255Ala) | |
2 | g.237361161T= | CA1337618682 | COL6A3 | c.5552A= (p.Glu1851=) c.6170A= (p.Glu2057=) c.4349A= (p.Glu1450=) c.5570A= (p.Glu1857=) c.4949A= (p.Glu1650=) c.5669A= (p.Glu1890=) c.6167A= (p.Glu2056=) c.3764A= (p.Glu1255=) | |
2 | g.237361162C>A | CA351217524 | COL6A3 | c.5551G>T (p.Glu1851Ter) c.6169G>T (p.Glu2057Ter) c.4348G>T (p.Glu1450Ter) c.5569G>T (p.Glu1857Ter) c.4948G>T (p.Glu1650Ter) c.5668G>T (p.Glu1890Ter) c.6166G>T (p.Glu2056Ter) c.3763G>T (p.Glu1255Ter) | |
2 | g.237361162C>G | CA351217525 | COL6A3 | c.5551G>C (p.Glu1851Gln) c.6169G>C (p.Glu2057Gln) c.4348G>C (p.Glu1450Gln) c.5569G>C (p.Glu1857Gln) c.4948G>C (p.Glu1650Gln) c.5668G>C (p.Glu1890Gln) c.6166G>C (p.Glu2056Gln) c.3763G>C (p.Glu1255Gln) | |
2 | g.237361162C>T | CA351217526 | COL6A3 | c.5551G>A (p.Glu1851Lys) c.6169G>A (p.Glu2057Lys) c.4348G>A (p.Glu1450Lys) c.5569G>A (p.Glu1857Lys) c.4948G>A (p.Glu1650Lys) c.5668G>A (p.Glu1890Lys) c.6166G>A (p.Glu2056Lys) c.3763G>A (p.Glu1255Lys) | gnomAD v4 |
2 | g.237361163T>A | CA431678519 | COL6A3 | c.5550A>T (p.Gly1850=) c.6168A>T (p.Gly2056=) c.4347A>T (p.Gly1449=) c.5568A>T (p.Gly1856=) c.4947A>T (p.Gly1649=) c.5667A>T (p.Gly1889=) c.6165A>T (p.Gly2055=) c.3762A>T (p.Gly1254=) | |
2 | g.237361163T>C | CA431678520 | COL6A3 | c.5550A>G (p.Gly1850=) c.6168A>G (p.Gly2056=) c.4347A>G (p.Gly1449=) c.5568A>G (p.Gly1856=) c.4947A>G (p.Gly1649=) c.5667A>G (p.Gly1889=) c.6165A>G (p.Gly2055=) c.3762A>G (p.Gly1254=) | ClinVar dbSNP |
2 | g.237361163T>G | CA431678521 | COL6A3 | c.5550A>C (p.Gly1850=) c.6168A>C (p.Gly2056=) c.4347A>C (p.Gly1449=) c.5568A>C (p.Gly1856=) c.4947A>C (p.Gly1649=) c.5667A>C (p.Gly1889=) c.6165A>C (p.Gly2055=) c.3762A>C (p.Gly1254=) | gnomAD v4 |
2 | g.237361163T= | CA1337618685 | COL6A3 | c.5550A= (p.Gly1850=) c.6168A= (p.Gly2056=) c.4347A= (p.Gly1449=) c.5568A= (p.Gly1856=) c.4947A= (p.Gly1649=) c.5667A= (p.Gly1889=) c.6165A= (p.Gly2055=) c.3762A= (p.Gly1254=) | |
2 | g.237361164C>A | CA351217528 | COL6A3 | c.5549G>T (p.Gly1850Val) c.6167G>T (p.Gly2056Val) c.4346G>T (p.Gly1449Val) c.5567G>T (p.Gly1856Val) c.4946G>T (p.Gly1649Val) c.5666G>T (p.Gly1889Val) c.6164G>T (p.Gly2055Val) c.3761G>T (p.Gly1254Val) | |
2 | g.237361164C= | CA1337618689 | COL6A3 | c.5549G= (p.Gly1850=) c.6167G= (p.Gly2056=) c.4346G= (p.Gly1449=) c.5567G= (p.Gly1856=) c.4946G= (p.Gly1649=) c.5666G= (p.Gly1889=) c.6164G= (p.Gly2055=) c.3761G= (p.Gly1254=) | |
2 | g.237361164C>G | CA351217529 | COL6A3 | c.5549G>C (p.Gly1850Ala) c.6167G>C (p.Gly2056Ala) c.4346G>C (p.Gly1449Ala) c.5567G>C (p.Gly1856Ala) c.4946G>C (p.Gly1649Ala) c.5666G>C (p.Gly1889Ala) c.6164G>C (p.Gly2055Ala) c.3761G>C (p.Gly1254Ala) | |
2 | g.237361164C>T | CA16617501 | COL6A3 | c.5549G>A (p.Gly1850Glu) c.6167G>A (p.Gly2056Glu) c.4346G>A (p.Gly1449Glu) c.5567G>A (p.Gly1856Glu) c.4946G>A (p.Gly1649Glu) c.5666G>A (p.Gly1889Glu) c.6164G>A (p.Gly2055Glu) c.3761G>A (p.Gly1254Glu) | ClinVar dbSNP |
2 | g.237361165C>A | CA351217538 | COL6A3 | c.5548G>T (p.Gly1850Ter) c.6166G>T (p.Gly2056Ter) c.4345G>T (p.Gly1449Ter) c.5566G>T (p.Gly1856Ter) c.4945G>T (p.Gly1649Ter) c.5665G>T (p.Gly1889Ter) c.6163G>T (p.Gly2055Ter) c.3760G>T (p.Gly1254Ter) | |
2 | g.237361165C>G | CA351217540 | COL6A3 | c.5548G>C (p.Gly1850Arg) c.6166G>C (p.Gly2056Arg) c.4345G>C (p.Gly1449Arg) c.5566G>C (p.Gly1856Arg) c.4945G>C (p.Gly1649Arg) c.5665G>C (p.Gly1889Arg) c.6163G>C (p.Gly2055Arg) c.3760G>C (p.Gly1254Arg) | |
2 | g.237361165C>T | CA351217536 | COL6A3 | c.5548G>A (p.Gly1850Arg) c.6166G>A (p.Gly2056Arg) c.4345G>A (p.Gly1449Arg) c.5566G>A (p.Gly1856Arg) c.4945G>A (p.Gly1649Arg) c.5665G>A (p.Gly1889Arg) c.6163G>A (p.Gly2055Arg) c.3760G>A (p.Gly1254Arg) | |
2 | g.237361166A= | CA1337618692 | COL6A3 | c.5547T= (p.Pro1849=) c.6165T= (p.Pro2055=) c.4344T= (p.Pro1448=) c.5565T= (p.Pro1855=) c.4944T= (p.Pro1648=) c.5664T= (p.Pro1888=) c.6162T= (p.Pro2054=) c.3759T= (p.Pro1253=) | |
2 | g.237361166A>C | CA431678522 | COL6A3 | c.5547T>G (p.Pro1849=) c.6165T>G (p.Pro2055=) c.4344T>G (p.Pro1448=) c.5565T>G (p.Pro1855=) c.4944T>G (p.Pro1648=) c.5664T>G (p.Pro1888=) c.6162T>G (p.Pro2054=) c.3759T>G (p.Pro1253=) | |
2 | g.237361166A>G | CA431678523 | COL6A3 | c.5547T>C (p.Pro1849=) c.6165T>C (p.Pro2055=) c.4344T>C (p.Pro1448=) c.5565T>C (p.Pro1855=) c.4944T>C (p.Pro1648=) c.5664T>C (p.Pro1888=) c.6162T>C (p.Pro2054=) c.3759T>C (p.Pro1253=) | |
2 | g.237361166A>T | CA2188427 | COL6A3 | c.5547T>A (p.Pro1849=) c.6165T>A (p.Pro2055=) c.4344T>A (p.Pro1448=) c.5565T>A (p.Pro1855=) c.4944T>A (p.Pro1648=) c.5664T>A (p.Pro1888=) c.6162T>A (p.Pro2054=) c.3759T>A (p.Pro1253=) | dbSNP ExAC |
2 | g.237361167G>A | CA351217553 | COL6A3 | c.5546C>T (p.Pro1849Leu) c.6164C>T (p.Pro2055Leu) c.4343C>T (p.Pro1448Leu) c.5564C>T (p.Pro1855Leu) c.4943C>T (p.Pro1648Leu) c.5663C>T (p.Pro1888Leu) c.6161C>T (p.Pro2054Leu) c.3758C>T (p.Pro1253Leu) | |
2 | g.237361167G>C | CA351217550 | COL6A3 | c.5546C>G (p.Pro1849Arg) c.6164C>G (p.Pro2055Arg) c.4343C>G (p.Pro1448Arg) c.5564C>G (p.Pro1855Arg) c.4943C>G (p.Pro1648Arg) c.5663C>G (p.Pro1888Arg) c.6161C>G (p.Pro2054Arg) c.3758C>G (p.Pro1253Arg) | |
2 | g.237361167G>T | CA351217552 | COL6A3 | c.5546C>A (p.Pro1849His) c.6164C>A (p.Pro2055His) c.4343C>A (p.Pro1448His) c.5564C>A (p.Pro1855His) c.4943C>A (p.Pro1648His) c.5663C>A (p.Pro1888His) c.6161C>A (p.Pro2054His) c.3758C>A (p.Pro1253His) | |
2 | g.237361168G>A | CA351217556 | COL6A3 | c.5545C>T (p.Pro1849Ser) c.6163C>T (p.Pro2055Ser) c.4342C>T (p.Pro1448Ser) c.5563C>T (p.Pro1855Ser) c.4942C>T (p.Pro1648Ser) c.5662C>T (p.Pro1888Ser) c.6160C>T (p.Pro2054Ser) c.3757C>T (p.Pro1253Ser) | |
2 | g.237361168G>C | CA351217558 | COL6A3 | c.5545C>G (p.Pro1849Ala) c.6163C>G (p.Pro2055Ala) c.4342C>G (p.Pro1448Ala) c.5563C>G (p.Pro1855Ala) c.4942C>G (p.Pro1648Ala) c.5662C>G (p.Pro1888Ala) c.6160C>G (p.Pro2054Ala) c.3757C>G (p.Pro1253Ala) | |
2 | g.237361168G>T | CA351217561 | COL6A3 | c.5545C>A (p.Pro1849Thr) c.6163C>A (p.Pro2055Thr) c.4342C>A (p.Pro1448Thr) c.5563C>A (p.Pro1855Thr) c.4942C>A (p.Pro1648Thr) c.5662C>A (p.Pro1888Thr) c.6160C>A (p.Pro2054Thr) c.3757C>A (p.Pro1253Thr) | |
2 | g.237361169A= | CA1337618696 | COL6A3 | c.5544T= (p.Ile1848=) c.6162T= (p.Ile2054=) c.4341T= (p.Ile1447=) c.5562T= (p.Ile1854=) c.4941T= (p.Ile1647=) c.5661T= (p.Ile1887=) c.6159T= (p.Ile2053=) c.3756T= (p.Ile1252=) | |
2 | g.237361169A>C | CA351217563 | COL6A3 | c.5544T>G (p.Ile1848Met) c.6162T>G (p.Ile2054Met) c.4341T>G (p.Ile1447Met) c.5562T>G (p.Ile1854Met) c.4941T>G (p.Ile1647Met) c.5661T>G (p.Ile1887Met) c.6159T>G (p.Ile2053Met) c.3756T>G (p.Ile1252Met) | |
2 | g.237361169A>G | CA431678524 | COL6A3 | c.5544T>C (p.Ile1848=) c.6162T>C (p.Ile2054=) c.4341T>C (p.Ile1447=) c.5562T>C (p.Ile1854=) c.4941T>C (p.Ile1647=) c.5661T>C (p.Ile1887=) c.6159T>C (p.Ile2053=) c.3756T>C (p.Ile1252=) | |
2 | g.237361169A>T | CA2188428 | COL6A3 | c.5544T>A (p.Ile1848=) c.6162T>A (p.Ile2054=) c.4341T>A (p.Ile1447=) c.5562T>A (p.Ile1854=) c.4941T>A (p.Ile1647=) c.5661T>A (p.Ile1887=) c.6159T>A (p.Ile2053=) c.3756T>A (p.Ile1252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361170A>C | CA351217566 | COL6A3 | c.5543T>G (p.Ile1848Ser) c.6161T>G (p.Ile2054Ser) c.4340T>G (p.Ile1447Ser) c.5561T>G (p.Ile1854Ser) c.4940T>G (p.Ile1647Ser) c.5660T>G (p.Ile1887Ser) c.6158T>G (p.Ile2053Ser) c.3755T>G (p.Ile1252Ser) | |
2 | g.237361170A>G | CA351217568 | COL6A3 | c.5543T>C (p.Ile1848Thr) c.6161T>C (p.Ile2054Thr) c.4340T>C (p.Ile1447Thr) c.5561T>C (p.Ile1854Thr) c.4940T>C (p.Ile1647Thr) c.5660T>C (p.Ile1887Thr) c.6158T>C (p.Ile2053Thr) c.3755T>C (p.Ile1252Thr) | dbSNP |
2 | g.237361170A>T | CA351217570 | COL6A3 | c.5543T>A (p.Ile1848Asn) c.6161T>A (p.Ile2054Asn) c.4340T>A (p.Ile1447Asn) c.5561T>A (p.Ile1854Asn) c.4940T>A (p.Ile1647Asn) c.5660T>A (p.Ile1887Asn) c.6158T>A (p.Ile2053Asn) c.3755T>A (p.Ile1252Asn) | |
2 | g.237361171T>A | CA351217572 | COL6A3 | c.5542A>T (p.Ile1848Phe) c.6160A>T (p.Ile2054Phe) c.4339A>T (p.Ile1447Phe) c.5560A>T (p.Ile1854Phe) c.4939A>T (p.Ile1647Phe) c.5659A>T (p.Ile1887Phe) c.6157A>T (p.Ile2053Phe) c.3754A>T (p.Ile1252Phe) | |
2 | g.237361171T>C | CA351217573 | COL6A3 | c.5542A>G (p.Ile1848Val) c.6160A>G (p.Ile2054Val) c.4339A>G (p.Ile1447Val) c.5560A>G (p.Ile1854Val) c.4939A>G (p.Ile1647Val) c.5659A>G (p.Ile1887Val) c.6157A>G (p.Ile2053Val) c.3754A>G (p.Ile1252Val) | |
2 | g.237361171T>G | CA351217574 | COL6A3 | c.5542A>C (p.Ile1848Leu) c.6160A>C (p.Ile2054Leu) c.4339A>C (p.Ile1447Leu) c.5560A>C (p.Ile1854Leu) c.4939A>C (p.Ile1647Leu) c.5659A>C (p.Ile1887Leu) c.6157A>C (p.Ile2053Leu) c.3754A>C (p.Ile1252Leu) | |
2 | g.237361172A= | CA1337618701 | COL6A3 | c.5541T= (p.Gly1847=) c.6159T= (p.Gly2053=) c.4338T= (p.Gly1446=) c.5559T= (p.Gly1853=) c.4938T= (p.Gly1646=) c.5658T= (p.Gly1886=) c.6156T= (p.Gly2052=) c.3753T= (p.Gly1251=) | |
2 | g.237361172A>C | CA431678525 | COL6A3 | c.5541T>G (p.Gly1847=) c.6159T>G (p.Gly2053=) c.4338T>G (p.Gly1446=) c.5559T>G (p.Gly1853=) c.4938T>G (p.Gly1646=) c.5658T>G (p.Gly1886=) c.6156T>G (p.Gly2052=) c.3753T>G (p.Gly1251=) | |
2 | g.237361172A>G | CA431678526 | COL6A3 | c.5541T>C (p.Gly1847=) c.6159T>C (p.Gly2053=) c.4338T>C (p.Gly1446=) c.5559T>C (p.Gly1853=) c.4938T>C (p.Gly1646=) c.5658T>C (p.Gly1886=) c.6156T>C (p.Gly2052=) c.3753T>C (p.Gly1251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.237361172A>T | CA431678527 | COL6A3 | c.5541T>A (p.Gly1847=) c.6159T>A (p.Gly2053=) c.4338T>A (p.Gly1446=) c.5559T>A (p.Gly1853=) c.4938T>A (p.Gly1646=) c.5658T>A (p.Gly1886=) c.6156T>A (p.Gly2052=) c.3753T>A (p.Gly1251=) | |
2 | g.237361173C>A | CA10602841 | COL6A3 | c.5540G>T (p.Gly1847Val) c.6158G>T (p.Gly2053Val) c.4337G>T (p.Gly1446Val) c.5558G>T (p.Gly1853Val) c.4937G>T (p.Gly1646Val) c.5657G>T (p.Gly1886Val) c.6155G>T (p.Gly2052Val) c.3752G>T (p.Gly1251Val) | ClinVar dbSNP COSMIC |
2 | g.237361173C= | CA1337618709 | COL6A3 | c.5540G= (p.Gly1847=) c.6158G= (p.Gly2053=) c.4337G= (p.Gly1446=) c.5558G= (p.Gly1853=) c.4937G= (p.Gly1646=) c.5657G= (p.Gly1886=) c.6155G= (p.Gly2052=) c.3752G= (p.Gly1251=) | |
2 | g.237361173C>G | CA351217576 | COL6A3 | c.5540G>C (p.Gly1847Ala) c.6158G>C (p.Gly2053Ala) c.4337G>C (p.Gly1446Ala) c.5558G>C (p.Gly1853Ala) c.4937G>C (p.Gly1646Ala) c.5657G>C (p.Gly1886Ala) c.6155G>C (p.Gly2052Ala) c.3752G>C (p.Gly1251Ala) | |
2 | g.237361173C>T | CA351217575 | COL6A3 | c.5540G>A (p.Gly1847Asp) c.6158G>A (p.Gly2053Asp) c.4337G>A (p.Gly1446Asp) c.5558G>A (p.Gly1853Asp) c.4937G>A (p.Gly1646Asp) c.5657G>A (p.Gly1886Asp) c.6155G>A (p.Gly2052Asp) c.3752G>A (p.Gly1251Asp) | ClinVar |
2 | g.237361174C>A | CA351217578 | COL6A3 | c.5539G>T (p.Gly1847Cys) c.6157G>T (p.Gly2053Cys) c.4336G>T (p.Gly1446Cys) c.5557G>T (p.Gly1853Cys) c.4936G>T (p.Gly1646Cys) c.5656G>T (p.Gly1886Cys) c.6154G>T (p.Gly2052Cys) c.3751G>T (p.Gly1251Cys) | ClinVar dbSNP |
2 | g.237361174C= | CA1337618719 | COL6A3 | c.5539G= (p.Gly1847=) c.6157G= (p.Gly2053=) c.4336G= (p.Gly1446=) c.5557G= (p.Gly1853=) c.4936G= (p.Gly1646=) c.5656G= (p.Gly1886=) c.6154G= (p.Gly2052=) c.3751G= (p.Gly1251=) | |
2 | g.237361174C>G | CA351217582 | COL6A3 | c.5539G>C (p.Gly1847Arg) c.6157G>C (p.Gly2053Arg) c.4336G>C (p.Gly1446Arg) c.5557G>C (p.Gly1853Arg) c.4936G>C (p.Gly1646Arg) c.5656G>C (p.Gly1886Arg) c.6154G>C (p.Gly2052Arg) c.3751G>C (p.Gly1251Arg) | ClinVar |
2 | g.237361174C>T | CA351217585 | COL6A3 | c.5539G>A (p.Gly1847Ser) c.6157G>A (p.Gly2053Ser) c.4336G>A (p.Gly1446Ser) c.5557G>A (p.Gly1853Ser) c.4936G>A (p.Gly1646Ser) c.5656G>A (p.Gly1886Ser) c.6154G>A (p.Gly2052Ser) c.3751G>A (p.Gly1251Ser) |