16 | g.74773969_74776493del | CA2580613902 | | | ClinVar |
16 | g.74774447_74774465dup | CA8170605 | FA2H | c.270+23_270+41dup (n.270+23_270+41dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774446G>A | CA2232982402 | FA2H | c.270+40C>T (n.270+40C>T)
| dbSNP gnomAD v4 |
16 | g.74774446G>C | CA2634289948 | FA2H | c.270+40C>G (n.270+40C>G)
| gnomAD v4 |
16 | g.74774446G= | CA2232982401 | FA2H | c.270+40C= (n.270+40C=)
| |
16 | g.74774446G>T | CA2634289949 | FA2H | c.270+40C>A (n.270+40C>A)
| gnomAD v4 |
16 | g.74774447A>C | CA2634289950 | FA2H | c.270+39T>G (n.270+39T>G)
| gnomAD v4 |
16 | g.74774447A>G | CA2634289951 | FA2H | c.270+39T>C (n.270+39T>C)
| gnomAD v4 |
16 | g.74774447A>T | CA2634289952 | FA2H | c.270+39T>A (n.270+39T>A)
| gnomAD v4 |
16 | g.74774448G>T | CA2634289953 | FA2H | c.270+38C>A (n.270+38C>A)
| gnomAD v4 |
16 | g.74774449G>A | CA8170606 | FA2H | c.270+37C>T (n.270+37C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774449G>C | CA2576061412 | FA2H | c.270+37C>G (n.270+37C>G)
| |
16 | g.74774449G= | CA2232982403 | FA2H | c.270+37C= (n.270+37C=)
| |
16 | g.74774449G>T | CA2634289954 | FA2H | c.270+37C>A (n.270+37C>A)
| gnomAD v4 |
16 | g.74774450C>A | CA2634289955 | FA2H | c.270+36G>T (n.270+36G>T)
| gnomAD v4 |
16 | g.74774450C>T | CA2634289956 | FA2H | c.270+36G>A (n.270+36G>A)
| gnomAD v4 |
16 | g.74774451C>A | CA2634289957 | FA2H | c.270+35G>T (n.270+35G>T)
| gnomAD v4 |
16 | g.74774451C= | CA2232982404 | FA2H | c.270+35G= (n.270+35G=)
| |
16 | g.74774451C>T | CA2634289958 | FA2H | c.270+35G>A (n.270+35G>A)
| gnomAD v4 |
16 | g.74774452T>A | CA2634289959 | FA2H | c.270+34A>T (n.270+34A>T)
| gnomAD v4 |
16 | g.74774452T>C | CA2634289960 | FA2H | c.270+34A>G (n.270+34A>G)
| gnomAD v4 |
16 | g.74774452T>G | CA2232982406 | FA2H | c.270+34A>C (n.270+34A>C)
| dbSNP |
16 | g.74774452T= | CA2232982405 | FA2H | c.270+34A= (n.270+34A=)
| |
16 | g.74774456_74774460dup | CA979036894 | FA2H | c.270+30_270+34dup (n.270+30_270+34dup)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774453G>A | CA2634289963 | FA2H | c.270+33C>T (n.270+33C>T)
| gnomAD v4 |
16 | g.74774453G>C | CA8170607 | FA2H | c.270+33C>G (n.270+33C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774453G= | CA2232982407 | FA2H | c.270+33C= (n.270+33C=)
| |
16 | g.74774453G>T | CA2634289962 | FA2H | c.270+33C>A (n.270+33C>A)
| gnomAD v4 |
16 | g.74774454_74774455del | CA2634289961 | FA2H | c.270+32_270+33del (n.270+32_270+33del)
| gnomAD v4 |
16 | g.74774454G>A | CA2576061413 | FA2H | c.270+32C>T (n.270+32C>T)
| gnomAD v4 |
16 | g.74774454G>T | CA2576061414 | FA2H | c.270+32C>A (n.270+32C>A)
| gnomAD v4 |
16 | g.74774455G>A | CA2634289964 | FA2H | c.270+31C>T (n.270+31C>T)
| gnomAD v4 |
16 | g.74774455G>T | CA2634289965 | FA2H | c.270+31C>A (n.270+31C>A)
| gnomAD v4 |
16 | g.74774456T>A | CA2634289966 | FA2H | c.270+30A>T (n.270+30A>T)
| gnomAD v4 |
16 | g.74774456T>G | CA723874723 | FA2H | c.270+30A>C (n.270+30A>C)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774456T= | CA2232982408 | FA2H | c.270+30A= (n.270+30A=)
| |
16 | g.74774457T>C | CA2634289967 | FA2H | c.270+29A>G (n.270+29A>G)
| gnomAD v4 |
16 | g.74774457T>G | CA2232982411 | FA2H | c.270+29A>C (n.270+29A>C)
| dbSNP |
16 | g.74774457T= | CA2232982410 | FA2H | c.270+29A= (n.270+29A=)
| |
16 | g.74774457_74774458delinsTG | CA2232982409 | FA2H | c.270+28_270+29delinsCA (n.270+28_270+29delinsCA)
| |
16 | g.74774458G>A | CA283769788 | FA2H | c.270+28C>T (n.270+28C>T)
| dbSNP gnomAD v4 |
16 | g.74774458G= | CA2232982412 | FA2H | c.270+28C= (n.270+28C=)
| |
16 | g.74774458G>T | CA2634289968 | FA2H | c.270+28C>A (n.270+28C>A)
| gnomAD v4 |
16 | g.74774461del | CA8170608 | FA2H | c.270+28del (n.270+28del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774459G>A | CA623582331 | FA2H | c.270+27C>T (n.270+27C>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774459G= | CA2232982413 | FA2H | c.270+27C= (n.270+27C=)
| |
16 | g.74774459G>T | CA2576061415 | FA2H | c.270+27C>A (n.270+27C>A)
| gnomAD v4 |
16 | g.74774460G>A | CA8170609 | FA2H | c.270+26C>T (n.270+26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774460G>C | CA2634289970 | FA2H | c.270+26C>G (n.270+26C>G)
| gnomAD v4 |
16 | g.74774460G= | CA2232982414 | FA2H | c.270+26C= (n.270+26C=)
| |
16 | g.74774460G>T | CA2634289969 | FA2H | c.270+26C>A (n.270+26C>A)
| gnomAD v4 |
16 | g.74774461G>A | CA2634289971 | FA2H | c.270+25C>T (n.270+25C>T)
| gnomAD v4 |
16 | g.74774461G= | CA2232982417 | FA2H | c.270+25C= (n.270+25C=)
| |
16 | g.74774461G>T | CA8170610 | FA2H | c.270+25C>A (n.270+25C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774461_74774462delinsGT | CA2232982415 | FA2H | c.270+24_270+25delinsAC (n.270+24_270+25delinsAC)
| |
16 | g.74774462del | CA623582332 | FA2H | c.270+24del (n.270+24del)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774462T>A | CA2634289972 | FA2H | c.270+24A>T (n.270+24A>T)
| gnomAD v4 |
16 | g.74774462T>C | CA2634289973 | FA2H | c.270+24A>G (n.270+24A>G)
| gnomAD v4 |
16 | g.74774462T>G | CA283769852 | FA2H | c.270+24A>C (n.270+24A>C)
| dbSNP gnomAD v4 |
16 | g.74774462T= | CA2232982422 | FA2H | c.270+24A= (n.270+24A=)
| |
16 | g.74774463G>A | CA2634289974 | FA2H | c.270+23C>T (n.270+23C>T)
| dbSNP gnomAD v4 |
16 | g.74774463G>T | CA2576061416 | FA2H | c.270+23C>A (n.270+23C>A)
| gnomAD v4 |
16 | g.74774468dup | CA623582334 | FA2H | c.270+23dup (n.270+23dup)
| gnomAD v2 gnomAD v4 |
16 | g.74774468del | CA623582333 | FA2H | c.270+23del (n.270+23del)
| gnomAD v2 gnomAD v4 |
16 | g.74774464G>A | CA2634289975 | FA2H | c.270+22C>T (n.270+22C>T)
| gnomAD v4 |
16 | g.74774464G= | CA2232982424 | FA2H | c.270+22C= (n.270+22C=)
| |
16 | g.74774464G>T | CA283769876 | FA2H | c.270+22C>A (n.270+22C>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774465G>A | CA723874729 | FA2H | c.270+21C>T (n.270+21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774465G= | CA2232982426 | FA2H | c.270+21C= (n.270+21C=)
| |
16 | g.74774465G>T | CA2576061417 | FA2H | c.270+21C>A (n.270+21C>A)
| gnomAD v4 |
16 | g.74774466G>A | CA283769883 | FA2H | c.270+20C>T (n.270+20C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774466G= | CA2232982427 | FA2H | c.270+20C= (n.270+20C=)
| |
16 | g.74774466G>T | CA2634289976 | FA2H | c.270+20C>A (n.270+20C>A)
| gnomAD v4 |
16 | g.74774467G>A | CA723874735 | FA2H | c.270+19C>T (n.270+19C>T)
| dbSNP gnomAD v4 |
16 | g.74774467G>C | CA2232982430 | FA2H | c.270+19C>G (n.270+19C>G)
| dbSNP gnomAD v4 |
16 | g.74774467G= | CA2232982429 | FA2H | c.270+19C= (n.270+19C=)
| |
16 | g.74774467G>T | CA283769886 | FA2H | c.270+19C>A (n.270+19C>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774468G>A | CA8170611 | FA2H | c.270+18C>T (n.270+18C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774468G>C | CA2232982432 | FA2H | c.270+18C>G (n.270+18C>G)
| dbSNP |
16 | g.74774468G= | CA2232982431 | FA2H | c.270+18C= (n.270+18C=)
| |
16 | g.74774468G>T | CA2580091976 | FA2H | c.270+18C>A (n.270+18C>A)
| ClinVar gnomAD v4 |
16 | g.74774469C>A | CA723874742 | FA2H | c.270+17G>T (n.270+17G>T)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774469C= | CA2232982433 | FA2H | c.270+17G= (n.270+17G=)
| |
16 | g.74774469C>G | CA8170613 | FA2H | c.270+17G>C (n.270+17G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774469C>T | CA8170612 | FA2H | c.270+17G>A (n.270+17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774472dup | CA2634289977 | FA2H | c.270+17dup (n.270+17dup)
| gnomAD v4 |
16 | g.74774472del | CA623582335 | FA2H | c.270+17del (n.270+17del)
| gnomAD v2 gnomAD v4 |
16 | g.74774470C>A | CA2634289978 | FA2H | c.270+16G>T (n.270+16G>T)
| gnomAD v4 |
16 | g.74774470C>T | CA2634289979 | FA2H | c.270+16G>A (n.270+16G>A)
| gnomAD v4 |
16 | g.74774471C>A | CA2634289980 | FA2H | c.270+15G>T (n.270+15G>T)
| gnomAD v4 |
16 | g.74774471C>T | CA2634289981 | FA2H | c.270+15G>A (n.270+15G>A)
| gnomAD v4 |
16 | g.74774472C>A | CA2634289982 | FA2H | c.270+14G>T (n.270+14G>T)
| gnomAD v4 |
16 | g.74774472C= | CA2232982434 | FA2H | c.270+14G= (n.270+14G=)
| |
16 | g.74774472C>G | CA2634289983 | FA2H | c.270+14G>C (n.270+14G>C)
| gnomAD v4 |
16 | g.74774472C>T | CA8170614 | FA2H | c.270+14G>A (n.270+14G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.74774473G>A | CA283769905 | FA2H | c.270+13C>T (n.270+13C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774473G= | CA2232982435 | FA2H | c.270+13C= (n.270+13C=)
| |
16 | g.74774473G>T | CA2634289984 | FA2H | c.270+13C>A (n.270+13C>A)
| gnomAD v4 |
16 | g.74774474G>A | CA2634289985 | FA2H | c.270+12C>T (n.270+12C>T)
| gnomAD v4 |
16 | g.74774474G>C | CA2634289986 | FA2H | c.270+12C>G (n.270+12C>G)
| gnomAD v4 |
16 | g.74774474G>T | CA2634289987 | FA2H | c.270+12C>A (n.270+12C>A)
| gnomAD v4 |
16 | g.74774475C>A | CA2576061418 | FA2H | c.270+11G>T (n.270+11G>T)
| gnomAD v4 |
16 | g.74774475C>T | CA2634289989 | FA2H | c.270+11G>A (n.270+11G>A)
| gnomAD v4 |
16 | g.74774477del | CA2634289988 | FA2H | c.270+11del (n.270+11del)
| gnomAD v4 |
16 | g.74774476C>A | CA2634289990 | FA2H | c.270+10G>T (n.270+10G>T)
| gnomAD v4 |
16 | g.74774476C= | CA2232982436 | FA2H | c.270+10G= (n.270+10G=)
| |
16 | g.74774476C>T | CA623582336 | FA2H | c.270+10G>A (n.270+10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774477C>A | CA2634289991 | FA2H | c.270+9G>T (n.270+9G>T)
| gnomAD v4 |
16 | g.74774477C>G | CA2741499755 | FA2H | c.270+9G>C (n.270+9G>C)
| |
16 | g.74774477C>T | CA2634289992 | FA2H | c.270+9G>A (n.270+9G>A)
| gnomAD v4 |
16 | g.74774478G>A | CA623582337 | FA2H | c.270+8C>T (n.270+8C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774478G>C | CA2634289994 | FA2H | c.270+8C>G (n.270+8C>G)
| gnomAD v4 |
16 | g.74774478G= | CA2232982437 | FA2H | c.270+8C= (n.270+8C=)
| |
16 | g.74774478G>T | CA2634289993 | FA2H | c.270+8C>A (n.270+8C>A)
| gnomAD v4 |
16 | g.74774479G>A | CA2634289995 | FA2H | c.270+7C>T (n.270+7C>T)
| gnomAD v4 |
16 | g.74774479G>T | CA2634289996 | FA2H | c.270+7C>A (n.270+7C>A)
| gnomAD v4 |
16 | g.74774480C>A | CA2634289997 | FA2H | c.270+6G>T (n.270+6G>T)
| gnomAD v4 |
16 | g.74774480C>T | CA2634289998 | FA2H | c.270+6G>A (n.270+6G>A)
| gnomAD v4 |
16 | g.74774481T>C | CA2576061419 | FA2H | c.270+5A>G (n.270+5A>G)
| gnomAD v4 |
16 | g.74774481T>G | CA2634289999 | FA2H | c.270+5A>C (n.270+5A>C)
| gnomAD v4 |
16 | g.74774482G>A | CA283769908 | FA2H | c.270+4C>T (n.270+4C>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774482G= | CA2232982438 | FA2H | c.270+4C= (n.270+4C=)
| |
16 | g.74774482G>T | CA2634290000 | FA2H | c.270+4C>A (n.270+4C>A)
| gnomAD v4 |
16 | g.74774483T>A | CA2695223753 | FA2H | c.270+3A>T (n.270+3A>T)
| |
16 | g.74774483T>C | CA2634290001 | FA2H | c.270+3A>G (n.270+3A>G)
| gnomAD v4 |
16 | g.74774484A= | CA2232982442 | FA2H | c.270+2T= (n.270+2T=)
| |
16 | g.74774484A>C | CA396768043 | FA2H | c.270+2T>G (n.270+2T>G)
| dbSNP |
16 | g.74774484A>G | CA396768044 | FA2H | c.270+2T>C (n.270+2T>C)
| gnomAD v4 |
16 | g.74774484A>T | CA396768045 | FA2H | c.270+2T>A (n.270+2T>A)
| gnomAD v4 |
16 | g.74774485C>A | CA396768048 | FA2H | c.270+1G>T (n.270+1G>T)
| gnomAD v4 |
16 | g.74774485C= | CA2232982447 | FA2H | c.270+1G= (n.270+1G=)
| |
16 | g.74774485C>G | CA396768047 | FA2H | c.270+1G>C (n.270+1G>C)
| |
16 | g.74774485C>T | CA396768046 | FA2H | c.270+1G>A (n.270+1G>A)
| gnomAD v4 |
16 | g.74774486C>A | CA396768049 | FA2H | c.270G>T (p.Gln90His)
| gnomAD v4 |
16 | g.74774486C>G | CA396768050 | FA2H | c.270G>C (p.Gln90His)
| |
16 | g.74774486C>T | CA496690468 | FA2H | c.270G>A (p.Gln90=)
| gnomAD v4 |
16 | g.74774491_74774493dup | CA723874757 | FA2H | c.268_270dup (p.Gln90_Gly91insGln)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774487T>A | CA396768051 | FA2H | c.269A>T (p.Gln90Leu)
| |
16 | g.74774487T>C | CA396768052 | FA2H | c.269A>G (p.Gln90Arg)
| gnomAD v4 |
16 | g.74774487T>G | CA396768053 | FA2H | c.269A>C (p.Gln90Pro)
| |
16 | g.74774488G>A | CA396768054 | FA2H | c.268C>T (p.Gln90Ter)
| gnomAD v4 |
16 | g.74774488G>C | CA396768055 | FA2H | c.268C>G (p.Gln90Glu)
| ClinVar dbSNP gnomAD v4 |
16 | g.74774488G>T | CA396768056 | FA2H | c.268C>A (p.Gln90Lys)
| gnomAD v4 |
16 | g.74774489C>A | CA396768057 | FA2H | c.267G>T (p.Gln89His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774489C= | CA2232982449 | FA2H | c.267G= (p.Gln89=)
| |
16 | g.74774489C>G | CA396768058 | FA2H | c.267G>C (p.Gln89His)
| |
16 | g.74774489C>T | CA496690471 | FA2H | c.267G>A (p.Gln89=)
| gnomAD v4 |
16 | g.74774490T>A | CA396768059 | FA2H | c.266A>T (p.Gln89Leu)
| ClinVar dbSNP gnomAD v4 |
16 | g.74774490T>C | CA396768060 | FA2H | c.266A>G (p.Gln89Arg)
| gnomAD v4 |
16 | g.74774490T>G | CA396768061 | FA2H | c.266A>C (p.Gln89Pro)
| gnomAD v4 |
16 | g.74774490T= | CA2232982455 | FA2H | c.266A= (p.Gln89=)
| |
16 | g.74774491G>A | CA396768064 | FA2H | c.265C>T (p.Gln89Ter)
| ClinVar gnomAD v4 |
16 | g.74774491G>C | CA396768062 | FA2H | c.265C>G (p.Gln89Glu)
| |
16 | g.74774491G>T | CA396768063 | FA2H | c.265C>A (p.Gln89Lys)
| gnomAD v4 |
16 | g.74774492C>A | CA396768065 | FA2H | c.264G>T (p.Glu88Asp)
| gnomAD v4 |
16 | g.74774492C= | CA2232982459 | FA2H | c.264G= (p.Glu88=)
| |
16 | g.74774492C>G | CA396768066 | FA2H | c.264G>C (p.Glu88Asp)
| |
16 | g.74774492C>T | CA8170615 | FA2H | c.264G>A (p.Glu88=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774497_74774510del | CA2634290002 | FA2H | c.251_264del (p.Glu84AlafsTer13)
| gnomAD v4 |
16 | g.74774493T>A | CA396768067 | FA2H | c.263A>T (p.Glu88Val)
| dbSNP gnomAD v4 |
16 | g.74774493T>C | CA396768068 | FA2H | c.263A>G (p.Glu88Gly)
| gnomAD v4 |
16 | g.74774493T>G | CA396768069 | FA2H | c.263A>C (p.Glu88Ala)
| |
16 | g.74774493T= | CA2232982463 | FA2H | c.263A= (p.Glu88=)
| |
16 | g.74774494C>A | CA396768070 | FA2H | c.262G>T (p.Glu88Ter)
| gnomAD v4 |
16 | g.74774494C>G | CA396768071 | FA2H | c.262G>C (p.Glu88Gln)
| |
16 | g.74774494C>T | CA396768072 | FA2H | c.262G>A (p.Glu88Lys)
| gnomAD v4 |
16 | g.74774497del | CA2634290003 | FA2H | c.262del (p.Glu88SerfsTer11)
| gnomAD v4 |
16 | g.74774495C>A | CA496690475 | FA2H | c.261G>T (p.Gly87=)
| gnomAD v4 |
16 | g.74774495C= | CA2232982466 | FA2H | c.261G= (p.Gly87=)
| |
16 | g.74774495C>G | CA496690476 | FA2H | c.261G>C (p.Gly87=)
| |
16 | g.74774495C>T | CA496690474 | FA2H | c.261G>A (p.Gly87=)
| dbSNP gnomAD v4 |
16 | g.74774496C>A | CA396768073 | FA2H | c.260G>T (p.Gly87Val)
| gnomAD v4 |
16 | g.74774496C>G | CA396768074 | FA2H | c.260G>C (p.Gly87Ala)
| |
16 | g.74774496C>T | CA396768075 | FA2H | c.260G>A (p.Gly87Glu)
| gnomAD v4 |
16 | g.74774497C>A | CA283769913 | FA2H | c.259G>T (p.Gly87Trp)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774497C= | CA2232982470 | FA2H | c.259G= (p.Gly87=)
| |
16 | g.74774497C>G | CA396768077 | FA2H | c.259G>C (p.Gly87Arg)
| |
16 | g.74774497C>T | CA396768076 | FA2H | c.259G>A (p.Gly87Arg)
| dbSNP gnomAD v4 |
16 | g.74774499_74774500del | CA2634290004 | FA2H | c.258_259del (p.Glu88AlafsTer13)
| gnomAD v4 |
16 | g.74774498G>A | CA496690480 | FA2H | c.258C>T (p.Arg86=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774498G>C | CA496690478 | FA2H | c.258C>G (p.Arg86=)
| |
16 | g.74774498G= | CA2232982473 | FA2H | c.258C= (p.Arg86=)
| |
16 | g.74774498G>T | CA496690479 | FA2H | c.258C>A (p.Arg86=)
| gnomAD v4 |
16 | g.74774499C>A | CA396768078 | FA2H | c.257G>T (p.Arg86Leu)
| gnomAD v4 |
16 | g.74774499C= | CA2232982475 | FA2H | c.257G= (p.Arg86=)
| |
16 | g.74774499C>G | CA396768079 | FA2H | c.257G>C (p.Arg86Pro)
| |
16 | g.74774499C>T | CA396768080 | FA2H | c.257G>A (p.Arg86His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774500G>A | CA396768081 | FA2H | c.256C>T (p.Arg86Cys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774500G>C | CA396768082 | FA2H | c.256C>G (p.Arg86Gly)
| |
16 | g.74774500G= | CA2232982481 | FA2H | c.256C= (p.Arg86=)
| |
16 | g.74774500G>T | CA396768083 | FA2H | c.256C>A (p.Arg86Ser)
| gnomAD v4 |
16 | g.74774501G>A | CA496690484 | FA2H | c.255C>T (p.Leu85=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774501G>C | CA496690486 | FA2H | c.255C>G (p.Leu85=)
| |
16 | g.74774501G= | CA2232982482 | FA2H | c.255C= (p.Leu85=)
| |
16 | g.74774501G>T | CA496690485 | FA2H | c.255C>A (p.Leu85=)
| gnomAD v4 |
16 | g.74774502A>C | CA396768086 | FA2H | c.254T>G (p.Leu85Arg)
| |
16 | g.74774502A>G | CA396768084 | FA2H | c.254T>C (p.Leu85Pro)
| gnomAD v4 |
16 | g.74774502A>T | CA396768085 | FA2H | c.254T>A (p.Leu85His)
| gnomAD v4 |
16 | g.74774503G>A | CA396768087 | FA2H | c.253C>T (p.Leu85Phe)
| gnomAD v4 |
16 | g.74774503G>C | CA396768088 | FA2H | c.253C>G (p.Leu85Val)
| |
16 | g.74774503G>T | CA396768089 | FA2H | c.253C>A (p.Leu85Ile)
| gnomAD v4 |
16 | g.74774504C>A | CA396768090 | FA2H | c.252G>T (p.Glu84Asp)
| gnomAD v4 |
16 | g.74774504C= | CA2232982484 | FA2H | c.252G= (p.Glu84=)
| |
16 | g.74774504C>G | CA396768091 | FA2H | c.252G>C (p.Glu84Asp)
| |
16 | g.74774504C>T | CA496690488 | FA2H | c.252G>A (p.Glu84=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774507_74774508del | CA2634290005 | FA2H | c.251_252del (p.Glu84AlafsTer17)
| gnomAD v4 |
16 | g.74774505T>A | CA396768094 | FA2H | c.251A>T (p.Glu84Val)
| gnomAD v4 |
16 | g.74774505T>C | CA396768092 | FA2H | c.251A>G (p.Glu84Gly)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774505T>G | CA396768093 | FA2H | c.251A>C (p.Glu84Ala)
| gnomAD v4 |
16 | g.74774505T= | CA2232982487 | FA2H | c.251A= (p.Glu84=)
| |
16 | g.74774506C>A | CA396768095 | FA2H | c.250G>T (p.Glu84Ter)
| gnomAD v4 |
16 | g.74774506C= | CA2232982490 | FA2H | c.250G= (p.Glu84=)
| |
16 | g.74774506C>G | CA396768096 | FA2H | c.250G>C (p.Glu84Gln)
| |
16 | g.74774506C>T | CA396768097 | FA2H | c.250G>A (p.Glu84Lys)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774507T>A | CA496690490 | FA2H | c.249A>T (p.Gly83=)
| gnomAD v4 |
16 | g.74774507T>C | CA496690491 | FA2H | c.249A>G (p.Gly83=)
| gnomAD v4 |
16 | g.74774507T>G | CA496690492 | FA2H | c.249A>C (p.Gly83=)
| |
16 | g.74774508C>A | CA396768098 | FA2H | c.248G>T (p.Gly83Val)
| gnomAD v4 |
16 | g.74774508C= | CA2232982493 | FA2H | c.248G= (p.Gly83=)
| |
16 | g.74774508C>G | CA396768099 | FA2H | c.248G>C (p.Gly83Ala)
| dbSNP |
16 | g.74774508C>T | CA396768100 | FA2H | c.248G>A (p.Gly83Glu)
| gnomAD v4 |
16 | g.74774510del | CA2634290006 | FA2H | c.248del (p.Gly83GlufsTer16)
| gnomAD v4 |
16 | g.74774509C>A | CA396768101 | FA2H | c.247G>T (p.Gly83Ter)
| gnomAD v4 |
16 | g.74774509C= | CA2232982497 | FA2H | c.247G= (p.Gly83=)
| |
16 | g.74774509C>G | CA396768102 | FA2H | c.247G>C (p.Gly83Arg)
| |
16 | g.74774509C>T | CA396768103 | FA2H | c.247G>A (p.Gly83Arg)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774510C>A | CA496690494 | FA2H | c.246G>T (p.Val82=)
| gnomAD v4 |
16 | g.74774510C= | CA2232982498 | FA2H | c.246G= (p.Val82=)
| |
16 | g.74774510C>G | CA496690495 | FA2H | c.246G>C (p.Val82=)
| |
16 | g.74774510C>T | CA8170616 | FA2H | c.246G>A (p.Val82=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774511del | CA2807632664 | FA2H | c.245del (p.Val82GlyfsTer17)
| |
16 | g.74774511A>C | CA396768104 | FA2H | c.245T>G (p.Val82Gly)
| |
16 | g.74774511A>G | CA396768105 | FA2H | c.245T>C (p.Val82Ala)
| gnomAD v4 |
16 | g.74774511A>T | CA396768106 | FA2H | c.245T>A (p.Val82Glu)
| gnomAD v4 |
16 | g.74774512C>A | CA396768108 | FA2H | c.244G>T (p.Val82Leu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774512C= | CA2232982504 | FA2H | c.244G= (p.Val82=)
| |
16 | g.74774512C>G | CA283769914 | FA2H | c.244G>C (p.Val82Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774512C>T | CA396768107 | FA2H | c.244G>A (p.Val82Met)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774513G>A | CA496690497 | FA2H | c.243C>T (p.Tyr81=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774513G>C | CA396768109 | FA2H | c.243C>G (p.Tyr81Ter)
| |
16 | g.74774513G= | CA2232982507 | FA2H | c.243C= (p.Tyr81=)
| |
16 | g.74774513G>T | CA396768110 | FA2H | c.243C>A (p.Tyr81Ter)
| gnomAD v4 |
16 | g.74774514T>A | CA396768111 | FA2H | c.242A>T (p.Tyr81Phe)
| |
16 | g.74774514T>C | CA396768112 | FA2H | c.242A>G (p.Tyr81Cys)
| gnomAD v4 |
16 | g.74774514T>G | CA396768113 | FA2H | c.242A>C (p.Tyr81Ser)
| gnomAD v4 |
16 | g.74774515A>C | CA396768114 | FA2H | c.241T>G (p.Tyr81Asp)
| |
16 | g.74774515A>G | CA396768115 | FA2H | c.241T>C (p.Tyr81His)
| gnomAD v4 |
16 | g.74774515A>T | CA396768116 | FA2H | c.241T>A (p.Tyr81Asn)
| |
16 | g.74774516G>A | CA496690499 | FA2H | c.240C>T (p.Tyr80=)
| gnomAD v4 |
16 | g.74774516G>C | CA396768117 | FA2H | c.240C>G (p.Tyr80Ter)
| ClinVar dbSNP |
16 | g.74774516G>T | CA396768118 | FA2H | c.240C>A (p.Tyr80Ter)
| gnomAD v4 |
16 | g.74774517T>A | CA396768119 | FA2H | c.239A>T (p.Tyr80Phe)
| |
16 | g.74774517T>C | CA396768120 | FA2H | c.239A>G (p.Tyr80Cys)
| gnomAD v4 |
16 | g.74774517T>G | CA396768121 | FA2H | c.239A>C (p.Tyr80Ser)
| |
16 | g.74774518A>C | CA396768124 | FA2H | c.238T>G (p.Tyr80Asp)
| |
16 | g.74774518A>G | CA396768123 | FA2H | c.238T>C (p.Tyr80His)
| gnomAD v4 |
16 | g.74774518A>T | CA396768122 | FA2H | c.238T>A (p.Tyr80Asn)
| gnomAD v4 |
16 | g.74774519C>A | CA396768125 | FA2H | c.237G>T (p.Gln79His)
| gnomAD v4 |
16 | g.74774519C= | CA2232982510 | FA2H | c.237G= (p.Gln79=)
| |
16 | g.74774519C>G | CA396768126 | FA2H | c.237G>C (p.Gln79His)
| |
16 | g.74774519C>T | CA496690503 | FA2H | c.237G>A (p.Gln79=)
| dbSNP gnomAD v4 |
16 | g.74774520T>A | CA396768127 | FA2H | c.236A>T (p.Gln79Leu)
| |
16 | g.74774520T>C | CA396768128 | FA2H | c.236A>G (p.Gln79Arg)
| |
16 | g.74774520T>G | CA396768129 | FA2H | c.236A>C (p.Gln79Pro)
| |
16 | g.74774521G>A | CA396768130 | FA2H | c.235C>T (p.Gln79Ter)
| dbSNP gnomAD v4 |
16 | g.74774521G>C | CA396768131 | FA2H | c.235C>G (p.Gln79Glu)
| |
16 | g.74774521G>T | CA396768132 | FA2H | c.235C>A (p.Gln79Lys)
| gnomAD v4 |
16 | g.74774522C>A | CA396768133 | FA2H | c.234G>T (p.Glu78Asp)
| dbSNP gnomAD v4 |
16 | g.74774522C>G | CA396768134 | FA2H | c.234G>C (p.Glu78Asp)
| gnomAD v4 |
16 | g.74774522C>T | CA496690507 | FA2H | c.234G>A (p.Glu78=)
| gnomAD v4 |
16 | g.74774523T>A | CA396768135 | FA2H | c.233A>T (p.Glu78Val)
| gnomAD v4 |
16 | g.74774523T>C | CA396768136 | FA2H | c.233A>G (p.Glu78Gly)
| gnomAD v4 |
16 | g.74774523T>G | CA396768137 | FA2H | c.233A>C (p.Glu78Ala)
| |
16 | g.74774524C>A | CA396768138 | FA2H | c.232G>T (p.Glu78Ter)
| gnomAD v4 |
16 | g.74774524C= | CA2232982515 | FA2H | c.232G= (p.Glu78=)
| |
16 | g.74774524C>G | CA396768139 | FA2H | c.232G>C (p.Glu78Gln)
| |
16 | g.74774524C>T | CA8170617 | FA2H | c.232G>A (p.Glu78Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774525del | CA2634290007 | FA2H | c.232del (p.Glu78SerfsTer21)
| gnomAD v4 |
16 | g.74774525C>A | CA496690699 | FA2H | c.231G>T (p.Leu77=)
| gnomAD v4 |
16 | g.74774525C>G | CA496690700 | FA2H | c.231G>C (p.Leu77=)
| |
16 | g.74774525C>T | CA496690701 | FA2H | c.231G>A (p.Leu77=)
| gnomAD v4 |
16 | g.74774526A>C | CA396768140 | FA2H | c.230T>G (p.Leu77Arg)
| |
16 | g.74774526A>G | CA396768142 | FA2H | c.230T>C (p.Leu77Pro)
| gnomAD v4 |
16 | g.74774526A>T | CA396768141 | FA2H | c.230T>A (p.Leu77Gln)
| |
16 | g.74774527G>A | CA152807 | FA2H | c.229C>T (p.Leu77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774527G>C | CA396768143 | FA2H | c.229C>G (p.Leu77Val)
| |
16 | g.74774527G= | CA2232982517 | FA2H | c.229C= (p.Leu77=)
| |
16 | g.74774527G>T | CA396768144 | FA2H | c.229C>A (p.Leu77Met)
| gnomAD v4 |
16 | g.74774528C>A | CA396768145 | FA2H | c.228G>T (p.Trp76Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.74774528C= | CA2232982519 | FA2H | c.228G= (p.Trp76=)
| |
16 | g.74774528C>G | CA396768146 | FA2H | c.228G>C (p.Trp76Cys)
| |
16 | g.74774528C>T | CA396768147 | FA2H | c.228G>A (p.Trp76Ter)
| gnomAD v4 |
16 | g.74774529C>A | CA396768148 | FA2H | c.227G>T (p.Trp76Leu)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.74774529C= | CA2232982523 | FA2H | c.227G= (p.Trp76=)
| |
16 | g.74774529C>G | CA396768149 | FA2H | c.227G>C (p.Trp76Ser)
| |
16 | g.74774529C>T | CA396768150 | FA2H | c.227G>A (p.Trp76Ter)
| ClinVar dbSNP gnomAD v4 |
16 | g.74774530A= | CA2232982524 | FA2H | c.226T= (p.Trp76=)
| |
16 | g.74774530A>C | CA396768151 | FA2H | c.226T>G (p.Trp76Gly)
| dbSNP gnomAD v4 |
16 | g.74774530A>G | CA396768152 | FA2H | c.226T>C (p.Trp76Arg)
| gnomAD v4 |
16 | g.74774530A>T | CA396768153 | FA2H | c.226T>A (p.Trp76Arg)
| |
16 | g.74774531G>A | CA496690704 | FA2H | c.225C>T (p.Arg75=)
| gnomAD v4 |
16 | g.74774531G>C | CA496690706 | FA2H | c.225C>G (p.Arg75=)
| |
16 | g.74774531G>T | CA496690707 | FA2H | c.225C>A (p.Arg75=)
| gnomAD v4 |
16 | g.74774532C>A | CA396768154 | FA2H | c.224G>T (p.Arg75Leu)
| gnomAD v4 |
16 | g.74774532C>G | CA396768156 | FA2H | c.224G>C (p.Arg75Pro)
| |
16 | g.74774532C>T | CA396768155 | FA2H | c.224G>A (p.Arg75His)
| gnomAD v4 |
16 | g.74774533G>A | CA396768157 | FA2H | c.223C>T (p.Arg75Cys)
| gnomAD v4 |
16 | g.74774533G>C | CA396768158 | FA2H | c.223C>G (p.Arg75Gly)
| dbSNP gnomAD v4 |
16 | g.74774533G= | CA2232982525 | FA2H | c.223C= (p.Arg75=)
| |
16 | g.74774533G>T | CA396768159 | FA2H | c.223C>A (p.Arg75Ser)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774534G>A | CA496690709 | FA2H | c.222C>T (p.Arg74=)
| gnomAD v4 |
16 | g.74774534G>C | CA496690710 | FA2H | c.222C>G (p.Arg74=)
| |
16 | g.74774534G>T | CA496690712 | FA2H | c.222C>A (p.Arg74=)
| gnomAD v4 |
16 | g.74774535C>A | CA396768160 | FA2H | c.221G>T (p.Arg74Leu)
| gnomAD v4 |
16 | g.74774535C>G | CA396768161 | FA2H | c.221G>C (p.Arg74Pro)
| gnomAD v4 |
16 | g.74774535C>T | CA396768162 | FA2H | c.221G>A (p.Arg74His)
| gnomAD v4 |
16 | g.74774536G>A | CA396768163 | FA2H | c.220C>T (p.Arg74Cys)
| gnomAD v4 |
16 | g.74774536G>C | CA396768164 | FA2H | c.220C>G (p.Arg74Gly)
| dbSNP gnomAD v4 |
16 | g.74774536G= | CA2232982527 | FA2H | c.220C= (p.Arg74=)
| |
16 | g.74774536G>T | CA396768165 | FA2H | c.220C>A (p.Arg74Ser)
| gnomAD v4 |
16 | g.74774537C>A | CA496690714 | FA2H | c.219G>T (p.Ala73=)
| gnomAD v4 |
16 | g.74774537C>G | CA496690715 | FA2H | c.219G>C (p.Ala73=)
| |
16 | g.74774537C>T | CA496690718 | FA2H | c.219G>A (p.Ala73=)
| gnomAD v4 |
16 | g.74774538G>A | CA396768167 | FA2H | c.218C>T (p.Ala73Val)
| gnomAD v4 |
16 | g.74774538G>C | CA396768168 | FA2H | c.218C>G (p.Ala73Gly)
| gnomAD v4 |
16 | g.74774538G>T | CA396768166 | FA2H | c.218C>A (p.Ala73Glu)
| gnomAD v4 |
16 | g.74774539C>A | CA396768169 | FA2H | c.217G>T (p.Ala73Ser)
| gnomAD v4 |
16 | g.74774539C>G | CA396768170 | FA2H | c.217G>C (p.Ala73Pro)
| |
16 | g.74774539C>T | CA396768171 | FA2H | c.217G>A (p.Ala73Thr)
| gnomAD v4 |
16 | g.74774540G>A | CA496690719 | FA2H | c.216C>T (p.Asn72=)
| ClinVar gnomAD v4 |
16 | g.74774540G>C | CA396768172 | FA2H | c.216C>G (p.Asn72Lys)
| gnomAD v4 |
16 | g.74774540G>T | CA396768173 | FA2H | c.216C>A (p.Asn72Lys)
| gnomAD v4 |
16 | g.74774541T>A | CA396768176 | FA2H | c.215A>T (p.Asn72Ile)
| |
16 | g.74774541T>C | CA396768175 | FA2H | c.215A>G (p.Asn72Ser)
| gnomAD v4 |
16 | g.74774541T>G | CA396768174 | FA2H | c.215A>C (p.Asn72Thr)
| |
16 | g.74774542T>A | CA396768177 | FA2H | c.214A>T (p.Asn72Tyr)
| gnomAD v4 |
16 | g.74774542T>C | CA396768178 | FA2H | c.214A>G (p.Asn72Asp)
| gnomAD v4 |
16 | g.74774542T>G | CA396768179 | FA2H | c.214A>C (p.Asn72His)
| |
16 | g.74774543G>A | CA496690724 | FA2H | c.213C>T (p.Ala71=)
| gnomAD v4 |
16 | g.74774543G>C | CA496690725 | FA2H | c.213C>G (p.Ala71=)
| |
16 | g.74774543G>T | CA496690726 | FA2H | c.213C>A (p.Ala71=)
| gnomAD v4 |
16 | g.74774544G>A | CA396768180 | FA2H | c.212C>T (p.Ala71Val)
| gnomAD v4 |
16 | g.74774544G>C | CA396768181 | FA2H | c.212C>G (p.Ala71Gly)
| gnomAD v4 |
16 | g.74774544G= | CA2232982533 | FA2H | c.212C= (p.Ala71=)
| |
16 | g.74774544G>T | CA396768182 | FA2H | c.212C>A (p.Ala71Asp)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774545C>A | CA396768183 | FA2H | c.211G>T (p.Ala71Ser)
| gnomAD v4 |
16 | g.74774545C= | CA2232982534 | FA2H | c.211G= (p.Ala71=)
| |
16 | g.74774545C>G | CA396768185 | FA2H | c.211G>C (p.Ala71Pro)
| |
16 | g.74774545C>T | CA396768184 | FA2H | c.211G>A (p.Ala71Thr)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.74774546C>A | CA496690728 | FA2H | c.210G>T (p.Ser70=)
| gnomAD v4 |
16 | g.74774546C>G | CA496690730 | FA2H | c.210G>C (p.Ser70=)
| gnomAD v4 |
16 | g.74774546C>T | CA496690732 | FA2H | c.210G>A (p.Ser70=)
| dbSNP gnomAD v4 |