Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760398C>A | CA67589646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>A (n.856-6636C>A) c.868-6636C>A (n.868-6636C>A) c.862-6636C>A (n.862-6636C>A) c.111C>A (p.Gly37=) c.61-6636C>A (n.61-6636C>A) c.442-6636C>A (n.442-6636C>A) | ClinVar dbSNP |
2 | g.233760398C= | CA1335893872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C= (n.856-6636C=) c.868-6636C= (n.868-6636C=) c.862-6636C= (n.862-6636C=) c.111C= (p.Gly37=) c.61-6636C= (n.61-6636C=) c.442-6636C= (n.442-6636C=) | |
2 | g.233760398C>G | CA431960064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>G (n.856-6636C>G) c.868-6636C>G (n.868-6636C>G) c.862-6636C>G (n.862-6636C>G) c.111C>G (p.Gly37=) c.61-6636C>G (n.61-6636C>G) c.442-6636C>G (n.442-6636C>G) | dbSNP |
2 | g.233760398C>T | CA431960065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6636C>T (n.856-6636C>T) c.868-6636C>T (n.868-6636C>T) c.862-6636C>T (n.862-6636C>T) c.111C>T (p.Gly37=) c.61-6636C>T (n.61-6636C>T) c.442-6636C>T (n.442-6636C>T) | dbSNP gnomAD v4 |
2 | g.233760399A>C | CA351065660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>C (n.856-6635A>C) c.868-6635A>C (n.868-6635A>C) c.862-6635A>C (n.862-6635A>C) c.112A>C (p.Ser38Arg) c.61-6635A>C (n.61-6635A>C) c.442-6635A>C (n.442-6635A>C) | |
2 | g.233760399A>G | CA351065663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>G (n.856-6635A>G) c.868-6635A>G (n.868-6635A>G) c.862-6635A>G (n.862-6635A>G) c.112A>G (p.Ser38Gly) c.61-6635A>G (n.61-6635A>G) c.442-6635A>G (n.442-6635A>G) | |
2 | g.233760399A>T | CA351065665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6635A>T (n.856-6635A>T) c.868-6635A>T (n.868-6635A>T) c.862-6635A>T (n.862-6635A>T) c.112A>T (p.Ser38Cys) c.61-6635A>T (n.61-6635A>T) c.442-6635A>T (n.442-6635A>T) | |
2 | g.233760400G>A | CA351065668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>A (n.856-6634G>A) c.868-6634G>A (n.868-6634G>A) c.862-6634G>A (n.862-6634G>A) c.113G>A (p.Ser38Asn) c.61-6634G>A (n.61-6634G>A) c.442-6634G>A (n.442-6634G>A) | dbSNP |
2 | g.233760400G>C | CA351065669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>C (n.856-6634G>C) c.868-6634G>C (n.868-6634G>C) c.862-6634G>C (n.862-6634G>C) c.113G>C (p.Ser38Thr) c.61-6634G>C (n.61-6634G>C) c.442-6634G>C (n.442-6634G>C) | dbSNP |
2 | g.233760400G>T | CA351065672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6634G>T (n.856-6634G>T) c.868-6634G>T (n.868-6634G>T) c.862-6634G>T (n.862-6634G>T) c.113G>T (p.Ser38Ile) c.61-6634G>T (n.61-6634G>T) c.442-6634G>T (n.442-6634G>T) | dbSNP |
2 | g.233760401C>A | CA351065675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>A (n.856-6633C>A) c.868-6633C>A (n.868-6633C>A) c.862-6633C>A (n.862-6633C>A) c.114C>A (p.Ser38Arg) c.61-6633C>A (n.61-6633C>A) c.442-6633C>A (n.442-6633C>A) | dbSNP |
2 | g.233760401C>G | CA351065673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>G (n.856-6633C>G) c.868-6633C>G (n.868-6633C>G) c.862-6633C>G (n.862-6633C>G) c.114C>G (p.Ser38Arg) c.61-6633C>G (n.61-6633C>G) c.442-6633C>G (n.442-6633C>G) | dbSNP |
2 | g.233760401C>T | CA431960068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6633C>T (n.856-6633C>T) c.868-6633C>T (n.868-6633C>T) c.862-6633C>T (n.862-6633C>T) c.114C>T (p.Ser38=) c.61-6633C>T (n.61-6633C>T) c.442-6633C>T (n.442-6633C>T) | dbSNP gnomAD v4 |
2 | g.233760402C>A | CA351065679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>A (n.856-6632C>A) c.868-6632C>A (n.868-6632C>A) c.862-6632C>A (n.862-6632C>A) c.115C>A (p.His39Asn) c.61-6632C>A (n.61-6632C>A) c.442-6632C>A (n.442-6632C>A) | dbSNP |
2 | g.233760402C= | CA1335893873 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C= (n.856-6632C=) c.868-6632C= (n.868-6632C=) c.862-6632C= (n.862-6632C=) c.115C= (p.His39=) c.61-6632C= (n.61-6632C=) c.442-6632C= (n.442-6632C=) | |
2 | g.233760402C>G | CA67589647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>G (n.856-6632C>G) c.868-6632C>G (n.868-6632C>G) c.862-6632C>G (n.862-6632C>G) c.115C>G (p.His39Asp) c.61-6632C>G (n.61-6632C>G) c.442-6632C>G (n.442-6632C>G) | dbSNP |
2 | g.233760402C>T | CA351065681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6632C>T (n.856-6632C>T) c.868-6632C>T (n.868-6632C>T) c.862-6632C>T (n.862-6632C>T) c.115C>T (p.His39Tyr) c.61-6632C>T (n.61-6632C>T) c.442-6632C>T (n.442-6632C>T) | dbSNP |
2 | g.233760403A>C | CA351065683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>C (n.856-6631A>C) c.868-6631A>C (n.868-6631A>C) c.862-6631A>C (n.862-6631A>C) c.116A>C (p.His39Pro) c.61-6631A>C (n.61-6631A>C) c.442-6631A>C (n.442-6631A>C) | dbSNP |
2 | g.233760403A>G | CA351065687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>G (n.856-6631A>G) c.868-6631A>G (n.868-6631A>G) c.862-6631A>G (n.862-6631A>G) c.116A>G (p.His39Arg) c.61-6631A>G (n.61-6631A>G) c.442-6631A>G (n.442-6631A>G) | gnomAD v4 |
2 | g.233760403A>T | CA351065690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6631A>T (n.856-6631A>T) c.868-6631A>T (n.868-6631A>T) c.862-6631A>T (n.862-6631A>T) c.116A>T (p.His39Leu) c.61-6631A>T (n.61-6631A>T) c.442-6631A>T (n.442-6631A>T) | dbSNP gnomAD v4 |
2 | g.233760404C>A | CA351065693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>A (n.856-6630C>A) c.868-6630C>A (n.868-6630C>A) c.862-6630C>A (n.862-6630C>A) c.117C>A (p.His39Gln) c.61-6630C>A (n.61-6630C>A) c.442-6630C>A (n.442-6630C>A) | dbSNP |
2 | g.233760404C= | CA1335893874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C= (n.856-6630C=) c.868-6630C= (n.868-6630C=) c.862-6630C= (n.862-6630C=) c.117C= (p.His39=) c.61-6630C= (n.61-6630C=) c.442-6630C= (n.442-6630C=) | |
2 | g.233760404C>G | CA351065691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>G (n.856-6630C>G) c.868-6630C>G (n.868-6630C>G) c.862-6630C>G (n.862-6630C>G) c.117C>G (p.His39Gln) c.61-6630C>G (n.61-6630C>G) c.442-6630C>G (n.442-6630C>G) | dbSNP |
2 | g.233760404C>T | CA431960072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6630C>T (n.856-6630C>T) c.868-6630C>T (n.868-6630C>T) c.862-6630C>T (n.862-6630C>T) c.117C>T (p.His39=) c.61-6630C>T (n.61-6630C>T) c.442-6630C>T (n.442-6630C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760405T>A | CA351065695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>A (n.856-6629T>A) c.868-6629T>A (n.868-6629T>A) c.862-6629T>A (n.862-6629T>A) c.118T>A (p.Trp40Arg) c.61-6629T>A (n.61-6629T>A) c.442-6629T>A (n.442-6629T>A) | |
2 | g.233760405T>C | CA351065698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>C (n.856-6629T>C) c.868-6629T>C (n.868-6629T>C) c.862-6629T>C (n.862-6629T>C) c.118T>C (p.Trp40Arg) c.61-6629T>C (n.61-6629T>C) c.442-6629T>C (n.442-6629T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760405T>G | CA351065701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T>G (n.856-6629T>G) c.868-6629T>G (n.868-6629T>G) c.862-6629T>G (n.862-6629T>G) c.118T>G (p.Trp40Gly) c.61-6629T>G (n.61-6629T>G) c.442-6629T>G (n.442-6629T>G) | |
2 | g.233760405T= | CA1335893875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6629T= (n.856-6629T=) c.868-6629T= (n.868-6629T=) c.862-6629T= (n.862-6629T=) c.118T= (p.Trp40=) c.61-6629T= (n.61-6629T=) c.442-6629T= (n.442-6629T=) | |
2 | g.233760406G>A | CA351065703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>A (n.856-6628G>A) c.868-6628G>A (n.868-6628G>A) c.862-6628G>A (n.862-6628G>A) c.119G>A (p.Trp40Ter) c.61-6628G>A (n.61-6628G>A) c.442-6628G>A (n.442-6628G>A) | dbSNP |
2 | g.233760406G>C | CA351065704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>C (n.856-6628G>C) c.868-6628G>C (n.868-6628G>C) c.862-6628G>C (n.862-6628G>C) c.119G>C (p.Trp40Ser) c.61-6628G>C (n.61-6628G>C) c.442-6628G>C (n.442-6628G>C) | |
2 | g.233760406G>T | CA351065707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6628G>T (n.856-6628G>T) c.868-6628G>T (n.868-6628G>T) c.862-6628G>T (n.862-6628G>T) c.119G>T (p.Trp40Leu) c.61-6628G>T (n.61-6628G>T) c.442-6628G>T (n.442-6628G>T) | dbSNP |
2 | g.233760407G>A | CA2179777 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>A (n.856-6627G>A) c.868-6627G>A (n.868-6627G>A) c.862-6627G>A (n.862-6627G>A) c.120G>A (p.Trp40Ter) c.61-6627G>A (n.61-6627G>A) c.442-6627G>A (n.442-6627G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760407G>C | CA351065709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>C (n.856-6627G>C) c.868-6627G>C (n.868-6627G>C) c.862-6627G>C (n.862-6627G>C) c.120G>C (p.Trp40Cys) c.61-6627G>C (n.61-6627G>C) c.442-6627G>C (n.442-6627G>C) | |
2 | g.233760407G= | CA1335893876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G= (n.856-6627G=) c.868-6627G= (n.868-6627G=) c.862-6627G= (n.862-6627G=) c.120G= (p.Trp40=) c.61-6627G= (n.61-6627G=) c.442-6627G= (n.442-6627G=) | |
2 | g.233760407G>T | CA351065712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6627G>T (n.856-6627G>T) c.868-6627G>T (n.868-6627G>T) c.862-6627G>T (n.862-6627G>T) c.120G>T (p.Trp40Cys) c.61-6627G>T (n.61-6627G>T) c.442-6627G>T (n.442-6627G>T) | |
2 | g.233760408C>A | CA351065717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>A (n.856-6626C>A) c.868-6626C>A (n.868-6626C>A) c.862-6626C>A (n.862-6626C>A) c.121C>A (p.Leu41Met) c.61-6626C>A (n.61-6626C>A) c.442-6626C>A (n.442-6626C>A) | dbSNP |
2 | g.233760408C>G | CA351065719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>G (n.856-6626C>G) c.868-6626C>G (n.868-6626C>G) c.862-6626C>G (n.862-6626C>G) c.121C>G (p.Leu41Val) c.61-6626C>G (n.61-6626C>G) c.442-6626C>G (n.442-6626C>G) | |
2 | g.233760408C>T | CA431960075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6626C>T (n.856-6626C>T) c.868-6626C>T (n.868-6626C>T) c.862-6626C>T (n.862-6626C>T) c.121C>T (p.Leu41=) c.61-6626C>T (n.61-6626C>T) c.442-6626C>T (n.442-6626C>T) | |
2 | g.233760409T>A | CA351065723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>A (n.856-6625T>A) c.868-6625T>A (n.868-6625T>A) c.862-6625T>A (n.862-6625T>A) c.122T>A (p.Leu41Gln) c.61-6625T>A (n.61-6625T>A) c.442-6625T>A (n.442-6625T>A) | |
2 | g.233760409T>C | CA351065726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>C (n.856-6625T>C) c.868-6625T>C (n.868-6625T>C) c.862-6625T>C (n.862-6625T>C) c.122T>C (p.Leu41Pro) c.61-6625T>C (n.61-6625T>C) c.442-6625T>C (n.442-6625T>C) | |
2 | g.233760409T>G | CA351065727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6625T>G (n.856-6625T>G) c.868-6625T>G (n.868-6625T>G) c.862-6625T>G (n.862-6625T>G) c.122T>G (p.Leu41Arg) c.61-6625T>G (n.61-6625T>G) c.442-6625T>G (n.442-6625T>G) | |
2 | g.233760410G>A | CA431960078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>A (n.856-6624G>A) c.868-6624G>A (n.868-6624G>A) c.862-6624G>A (n.862-6624G>A) c.123G>A (p.Leu41=) c.61-6624G>A (n.61-6624G>A) c.442-6624G>A (n.442-6624G>A) | dbSNP |
2 | g.233760410G>C | CA431960077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>C (n.856-6624G>C) c.868-6624G>C (n.868-6624G>C) c.862-6624G>C (n.862-6624G>C) c.123G>C (p.Leu41=) c.61-6624G>C (n.61-6624G>C) c.442-6624G>C (n.442-6624G>C) | dbSNP |
2 | g.233760410G= | CA1335893877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G= (n.856-6624G=) c.868-6624G= (n.868-6624G=) c.862-6624G= (n.862-6624G=) c.123G= (p.Leu41=) c.61-6624G= (n.61-6624G=) c.442-6624G= (n.442-6624G=) | |
2 | g.233760410G>T | CA431960076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6624G>T (n.856-6624G>T) c.868-6624G>T (n.868-6624G>T) c.862-6624G>T (n.862-6624G>T) c.123G>T (p.Leu41=) c.61-6624G>T (n.61-6624G>T) c.442-6624G>T (n.442-6624G>T) | dbSNP |
2 | g.233760411A= | CA1335893878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A= (n.856-6623A=) c.868-6623A= (n.868-6623A=) c.862-6623A= (n.862-6623A=) c.124A= (p.Ser42=) c.61-6623A= (n.61-6623A=) c.442-6623A= (n.442-6623A=) | |
2 | g.233760411A>C | CA351065729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>C (n.856-6623A>C) c.868-6623A>C (n.868-6623A>C) c.862-6623A>C (n.862-6623A>C) c.124A>C (p.Ser42Arg) c.61-6623A>C (n.61-6623A>C) c.442-6623A>C (n.442-6623A>C) | |
2 | g.233760411A>G | CA351065732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>G (n.856-6623A>G) c.868-6623A>G (n.868-6623A>G) c.862-6623A>G (n.862-6623A>G) c.124A>G (p.Ser42Gly) c.61-6623A>G (n.61-6623A>G) c.442-6623A>G (n.442-6623A>G) | dbSNP gnomAD v4 |
2 | g.233760411A>T | CA351065735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6623A>T (n.856-6623A>T) c.868-6623A>T (n.868-6623A>T) c.862-6623A>T (n.862-6623A>T) c.124A>T (p.Ser42Cys) c.61-6623A>T (n.61-6623A>T) c.442-6623A>T (n.442-6623A>T) | dbSNP |
2 | g.233760412G>A | CA2179778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6622G>A (n.856-6622G>A) c.868-6622G>A (n.868-6622G>A) c.862-6622G>A (n.862-6622G>A) c.125G>A (p.Ser42Asn) c.61-6622G>A (n.61-6622G>A) c.442-6622G>A (n.442-6622G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |