Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.151064227G>A | CA4570721 | SLC4A2 | c.77G>A (p.Gly26Glu) c.52-378G>A (n.52-378G>A) c.50G>A (p.Gly17Glu) c.35G>A (p.Gly12Glu) n.312G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064227G>C | CA370007762 | SLC4A2 | c.77G>C (p.Gly26Ala) c.52-378G>C (n.52-378G>C) c.50G>C (p.Gly17Ala) c.35G>C (p.Gly12Ala) n.312G>C | |
7 | g.151064227G= | CA1752500303 | SLC4A2 | c.77G= (p.Gly26=) c.52-378G= (n.52-378G=) c.50G= (p.Gly17=) c.35G= (p.Gly12=) n.312G= | |
7 | g.151064227G>T | CA370007763 | SLC4A2 | c.77G>T (p.Gly26Val) c.52-378G>T (n.52-378G>T) c.50G>T (p.Gly17Val) c.35G>T (p.Gly12Val) n.312G>T | dbSNP |
7 | g.151064228G>A | CA458644826 | SLC4A2 | c.78G>A (p.Gly26=) c.52-377G>A (n.52-377G>A) c.51G>A (p.Gly17=) c.36G>A (p.Gly12=) n.313G>A | gnomAD v4 |
7 | g.151064228G>C | CA458644827 | SLC4A2 | c.78G>C (p.Gly26=) c.52-377G>C (n.52-377G>C) c.51G>C (p.Gly17=) c.36G>C (p.Gly12=) n.313G>C | dbSNP gnomAD v4 |
7 | g.151064228G>T | CA458644828 | SLC4A2 | c.78G>T (p.Gly26=) c.52-377G>T (n.52-377G>T) c.51G>T (p.Gly17=) c.36G>T (p.Gly12=) n.313G>T | |
7 | g.151064229A>C | CA370007764 | SLC4A2 | c.79A>C (p.Thr27Pro) c.52-376A>C (n.52-376A>C) c.52A>C (p.Thr18Pro) c.37A>C (p.Thr13Pro) n.314A>C | dbSNP |
7 | g.151064229A>G | CA370007765 | SLC4A2 | c.79A>G (p.Thr27Ala) c.52-376A>G (n.52-376A>G) c.52A>G (p.Thr18Ala) c.37A>G (p.Thr13Ala) n.314A>G | |
7 | g.151064229A>T | CA370007766 | SLC4A2 | c.79A>T (p.Thr27Ser) c.52-376A>T (n.52-376A>T) c.52A>T (p.Thr18Ser) c.37A>T (p.Thr13Ser) n.314A>T | |
7 | g.151064230C>A | CA370007767 | SLC4A2 | c.80C>A (p.Thr27Lys) c.52-375C>A (n.52-375C>A) c.53C>A (p.Thr18Lys) c.38C>A (p.Thr13Lys) n.315C>A | |
7 | g.151064230C= | CA1752500304 | SLC4A2 | c.80C= (p.Thr27=) c.52-375C= (n.52-375C=) c.53C= (p.Thr18=) c.38C= (p.Thr13=) n.315C= | |
7 | g.151064230C>G | CA370007768 | SLC4A2 | c.80C>G (p.Thr27Arg) c.52-375C>G (n.52-375C>G) c.53C>G (p.Thr18Arg) c.38C>G (p.Thr13Arg) n.315C>G | |
7 | g.151064230C>T | CA4570722 | SLC4A2 | c.80C>T (p.Thr27Met) c.52-375C>T (n.52-375C>T) c.53C>T (p.Thr18Met) c.38C>T (p.Thr13Met) n.315C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064231G>A | CA4570723 | SLC4A2 | c.81G>A (p.Thr27=) c.52-374G>A (n.52-374G>A) c.54G>A (p.Thr18=) c.39G>A (p.Thr13=) n.316G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.151064231G>C | CA458644831 | SLC4A2 | c.81G>C (p.Thr27=) c.52-374G>C (n.52-374G>C) c.54G>C (p.Thr18=) c.39G>C (p.Thr13=) n.316G>C | gnomAD v4 |
7 | g.151064231G= | CA1752500305 | SLC4A2 | c.81G= (p.Thr27=) c.52-374G= (n.52-374G=) c.54G= (p.Thr18=) c.39G= (p.Thr13=) n.316G= | |
7 | g.151064231G>T | CA4570724 | SLC4A2 | c.81G>T (p.Thr27=) c.52-374G>T (n.52-374G>T) c.54G>T (p.Thr18=) c.39G>T (p.Thr13=) n.316G>T | dbSNP ExAC gnomAD v4 COSMIC |
7 | g.151064232C>A | CA370007769 | SLC4A2 | c.82C>A (p.Pro28Thr) c.52-373C>A (n.52-373C>A) c.55C>A (p.Pro19Thr) c.40C>A (p.Pro14Thr) n.317C>A | |
7 | g.151064232C>G | CA370007770 | SLC4A2 | c.82C>G (p.Pro28Ala) c.52-373C>G (n.52-373C>G) c.55C>G (p.Pro19Ala) c.40C>G (p.Pro14Ala) n.317C>G | |
7 | g.151064232C>T | CA370007771 | SLC4A2 | c.82C>T (p.Pro28Ser) c.52-373C>T (n.52-373C>T) c.55C>T (p.Pro19Ser) c.40C>T (p.Pro14Ser) n.317C>T | |
7 | g.151064233C>A | CA370007774 | SLC4A2 | c.83C>A (p.Pro28His) c.52-372C>A (n.52-372C>A) c.56C>A (p.Pro19His) c.41C>A (p.Pro14His) n.318C>A | dbSNP gnomAD v4 COSMIC |
7 | g.151064233C= | CA1752500306 | SLC4A2 | c.83C= (p.Pro28=) c.52-372C= (n.52-372C=) c.56C= (p.Pro19=) c.41C= (p.Pro14=) n.318C= | |
7 | g.151064233C>G | CA370007773 | SLC4A2 | c.83C>G (p.Pro28Arg) c.52-372C>G (n.52-372C>G) c.56C>G (p.Pro19Arg) c.41C>G (p.Pro14Arg) n.318C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.151064233C>T | CA370007772 | SLC4A2 | c.83C>T (p.Pro28Leu) c.52-372C>T (n.52-372C>T) c.56C>T (p.Pro19Leu) c.41C>T (p.Pro14Leu) n.318C>T | |
7 | g.151064234T>A | CA458644835 | SLC4A2 | c.84T>A (p.Pro28=) c.52-371T>A (n.52-371T>A) c.57T>A (p.Pro19=) c.42T>A (p.Pro14=) n.319T>A | |
7 | g.151064234T>C | CA458644836 | SLC4A2 | c.84T>C (p.Pro28=) c.52-371T>C (n.52-371T>C) c.57T>C (p.Pro19=) c.42T>C (p.Pro14=) n.319T>C | |
7 | g.151064234T>G | CA458644837 | SLC4A2 | c.84T>G (p.Pro28=) c.52-371T>G (n.52-371T>G) c.57T>G (p.Pro19=) c.42T>G (p.Pro14=) n.319T>G | |
7 | g.151064235G>A | CA370007775 | SLC4A2 | c.85G>A (p.Gly29Arg) c.52-370G>A (n.52-370G>A) c.58G>A (p.Gly20Arg) c.43G>A (p.Gly15Arg) n.320G>A | |
7 | g.151064235G>C | CA370007776 | SLC4A2 | c.85G>C (p.Gly29Arg) c.52-370G>C (n.52-370G>C) c.58G>C (p.Gly20Arg) c.43G>C (p.Gly15Arg) n.320G>C | |
7 | g.151064235G>T | CA370007777 | SLC4A2 | c.85G>T (p.Gly29Trp) c.52-370G>T (n.52-370G>T) c.58G>T (p.Gly20Trp) c.43G>T (p.Gly15Trp) n.320G>T | |
7 | g.151064236G>A | CA370007778 | SLC4A2 | c.86G>A (p.Gly29Glu) c.52-369G>A (n.52-369G>A) c.59G>A (p.Gly20Glu) c.44G>A (p.Gly15Glu) n.321G>A | COSMIC |
7 | g.151064236G>C | CA4570725 | SLC4A2 | c.86G>C (p.Gly29Ala) c.52-369G>C (n.52-369G>C) c.59G>C (p.Gly20Ala) c.44G>C (p.Gly15Ala) n.321G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.151064236G= | CA1752500307 | SLC4A2 | c.86G= (p.Gly29=) c.52-369G= (n.52-369G=) c.59G= (p.Gly20=) c.44G= (p.Gly15=) n.321G= | |
7 | g.151064236G>T | CA370007779 | SLC4A2 | c.86G>T (p.Gly29Val) c.52-369G>T (n.52-369G>T) c.59G>T (p.Gly20Val) c.44G>T (p.Gly15Val) n.321G>T | |
7 | g.151064237G>A | CA458644841 | SLC4A2 | c.87G>A (p.Gly29=) c.52-368G>A (n.52-368G>A) c.60G>A (p.Gly20=) c.45G>A (p.Gly15=) n.322G>A | gnomAD v4 |
7 | g.151064237G>C | CA458644842 | SLC4A2 | c.87G>C (p.Gly29=) c.52-368G>C (n.52-368G>C) c.60G>C (p.Gly20=) c.45G>C (p.Gly15=) n.322G>C | |
7 | g.151064237G>T | CA458644843 | SLC4A2 | c.87G>T (p.Gly29=) c.52-368G>T (n.52-368G>T) c.60G>T (p.Gly20=) c.45G>T (p.Gly15=) n.322G>T | dbSNP gnomAD v4 |
7 | g.151064238T>A | CA370007780 | SLC4A2 | c.88T>A (p.Phe30Ile) c.52-367T>A (n.52-367T>A) c.61T>A (p.Phe21Ile) c.46T>A (p.Phe16Ile) n.323T>A | |
7 | g.151064238T>C | CA370007782 | SLC4A2 | c.88T>C (p.Phe30Leu) c.52-367T>C (n.52-367T>C) c.61T>C (p.Phe21Leu) c.46T>C (p.Phe16Leu) n.323T>C | |
7 | g.151064238T>G | CA370007781 | SLC4A2 | c.88T>G (p.Phe30Val) c.52-367T>G (n.52-367T>G) c.61T>G (p.Phe21Val) c.46T>G (p.Phe16Val) n.323T>G | |
7 | g.151064239T>A | CA370007783 | SLC4A2 | c.89T>A (p.Phe30Tyr) c.52-366T>A (n.52-366T>A) c.62T>A (p.Phe21Tyr) c.47T>A (p.Phe16Tyr) n.324T>A | |
7 | g.151064239T>C | CA370007784 | SLC4A2 | c.89T>C (p.Phe30Ser) c.52-366T>C (n.52-366T>C) c.62T>C (p.Phe21Ser) c.47T>C (p.Phe16Ser) n.324T>C | |
7 | g.151064239T>G | CA370007785 | SLC4A2 | c.89T>G (p.Phe30Cys) c.52-366T>G (n.52-366T>G) c.62T>G (p.Phe21Cys) c.47T>G (p.Phe16Cys) n.324T>G | |
7 | g.151064240C>A | CA370007786 | SLC4A2 | c.90C>A (p.Phe30Leu) c.52-365C>A (n.52-365C>A) c.63C>A (p.Phe21Leu) c.48C>A (p.Phe16Leu) n.325C>A | |
7 | g.151064240C>G | CA370007787 | SLC4A2 | c.90C>G (p.Phe30Leu) c.52-365C>G (n.52-365C>G) c.63C>G (p.Phe21Leu) c.48C>G (p.Phe16Leu) n.325C>G | |
7 | g.151064240C>T | CA458644846 | SLC4A2 | c.90C>T (p.Phe30=) c.52-365C>T (n.52-365C>T) c.63C>T (p.Phe21=) c.48C>T (p.Phe16=) n.325C>T | |
7 | g.151064241C>A | CA370007788 | SLC4A2 | c.91C>A (p.Pro31Thr) c.52-364C>A (n.52-364C>A) c.64C>A (p.Pro22Thr) c.49C>A (p.Pro17Thr) n.326C>A | |
7 | g.151064241C>G | CA370007789 | SLC4A2 | c.91C>G (p.Pro31Ala) c.52-364C>G (n.52-364C>G) c.64C>G (p.Pro22Ala) c.49C>G (p.Pro17Ala) n.326C>G | |
7 | g.151064241C>T | CA370007790 | SLC4A2 | c.91C>T (p.Pro31Ser) c.52-364C>T (n.52-364C>T) c.64C>T (p.Pro22Ser) c.49C>T (p.Pro17Ser) n.326C>T |