Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.149981140T>A | CA361708101 | SLC26A2 | c.1547T>A (p.Phe516Tyr) c.372+2789T>A (n.372+2789T>A) | |
5 | g.149981140T>C | CA361708102 | SLC26A2 | c.1547T>C (p.Phe516Ser) c.372+2789T>C (n.372+2789T>C) | |
5 | g.149981140T>G | CA361708103 | SLC26A2 | c.1547T>G (p.Phe516Cys) c.372+2789T>G (n.372+2789T>G) | |
5 | g.149981141T>A | CA361708104 | SLC26A2 | c.1548T>A (p.Phe516Leu) c.372+2790T>A (n.372+2790T>A) | |
5 | g.149981141T>C | CA447402668 | SLC26A2 | c.1548T>C (p.Phe516=) c.372+2790T>C (n.372+2790T>C) | |
5 | g.149981141T>G | CA361708105 | SLC26A2 | c.1548T>G (p.Phe516Leu) c.372+2790T>G (n.372+2790T>G) | |
5 | g.149981142G>A | CA361708106 | SLC26A2 | c.1549G>A (p.Val517Ile) c.372+2791G>A (n.372+2791G>A) | |
5 | g.149981142G>C | CA361708107 | SLC26A2 | c.1549G>C (p.Val517Leu) c.372+2791G>C (n.372+2791G>C) | ClinVar |
5 | g.149981142G>T | CA361708108 | SLC26A2 | c.1549G>T (p.Val517Phe) c.372+2791G>T (n.372+2791G>T) | |
5 | g.149981143T>A | CA361708111 | SLC26A2 | c.1550T>A (p.Val517Asp) c.372+2792T>A (n.372+2792T>A) | |
5 | g.149981143T>C | CA361708109 | SLC26A2 | c.1550T>C (p.Val517Ala) c.372+2792T>C (n.372+2792T>C) | |
5 | g.149981143T>G | CA361708110 | SLC26A2 | c.1550T>G (p.Val517Gly) c.372+2792T>G (n.372+2792T>G) | gnomAD v4 |
5 | g.149981144T>A | CA3505457 | SLC26A2 | c.1551T>A (p.Val517=) c.372+2793T>A (n.372+2793T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981144T>C | CA129084440 | SLC26A2 | c.1551T>C (p.Val517=) c.372+2793T>C (n.372+2793T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981144T>G | CA447402674 | SLC26A2 | c.1551T>G (p.Val517=) c.372+2793T>G (n.372+2793T>G) | |
5 | g.149981144T= | CA1590738654 | SLC26A2 | c.1551T= (p.Val517=) c.372+2793T= (n.372+2793T=) | |
5 | g.149981145A>C | CA361708112 | SLC26A2 | c.1552A>C (p.Thr518Pro) c.372+2794A>C (n.372+2794A>C) | |
5 | g.149981145A>G | CA361708113 | SLC26A2 | c.1552A>G (p.Thr518Ala) c.372+2794A>G (n.372+2794A>G) | gnomAD v4 |
5 | g.149981145A>T | CA361708114 | SLC26A2 | c.1552A>T (p.Thr518Ser) c.372+2794A>T (n.372+2794A>T) | |
5 | g.149981146C>A | CA361708115 | SLC26A2 | c.1553C>A (p.Thr518Asn) c.372+2795C>A (n.372+2795C>A) | |
5 | g.149981146C= | CA1590738655 | SLC26A2 | c.1553C= (p.Thr518=) c.372+2795C= (n.372+2795C=) | |
5 | g.149981146C>G | CA361708116 | SLC26A2 | c.1553C>G (p.Thr518Ser) c.372+2795C>G (n.372+2795C>G) | gnomAD v4 |
5 | g.149981146C>T | CA129084446 | SLC26A2 | c.1553C>T (p.Thr518Ile) c.372+2795C>T (n.372+2795C>T) | dbSNP |
5 | g.149981147T>A | CA447402679 | SLC26A2 | c.1554T>A (p.Thr518=) c.372+2796T>A (n.372+2796T>A) | |
5 | g.149981147T>C | CA447402681 | SLC26A2 | c.1554T>C (p.Thr518=) c.372+2796T>C (n.372+2796T>C) | |
5 | g.149981147T>G | CA447402683 | SLC26A2 | c.1554T>G (p.Thr518=) c.372+2796T>G (n.372+2796T>G) | ClinVar |
5 | g.149981148A= | CA1590738656 | SLC26A2 | c.1555A= (p.Met519=) c.372+2797A= (n.372+2797A=) | |
5 | g.149981148A>C | CA361708117 | SLC26A2 | c.1555A>C (p.Met519Leu) c.372+2797A>C (n.372+2797A>C) | |
5 | g.149981148A>G | CA129084455 | SLC26A2 | c.1555A>G (p.Met519Val) c.372+2797A>G (n.372+2797A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981148A>T | CA361708118 | SLC26A2 | c.1555A>T (p.Met519Leu) c.372+2797A>T (n.372+2797A>T) | |
5 | g.149981149T>A | CA361708119 | SLC26A2 | c.1556T>A (p.Met519Lys) c.372+2798T>A (n.372+2798T>A) | |
5 | g.149981149T>C | CA3505458 | SLC26A2 | c.1556T>C (p.Met519Thr) c.372+2798T>C (n.372+2798T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.149981149T>G | CA361708120 | SLC26A2 | c.1556T>G (p.Met519Arg) c.372+2798T>G (n.372+2798T>G) | |
5 | g.149981149T= | CA1590738657 | SLC26A2 | c.1556T= (p.Met519=) c.372+2798T= (n.372+2798T=) | |
5 | g.149981150G>A | CA361708122 | SLC26A2 | c.1557G>A (p.Met519Ile) c.372+2799G>A (n.372+2799G>A) | |
5 | g.149981150G>C | CA361708123 | SLC26A2 | c.1557G>C (p.Met519Ile) c.372+2799G>C (n.372+2799G>C) | |
5 | g.149981150G>T | CA361708121 | SLC26A2 | c.1557G>T (p.Met519Ile) c.372+2799G>T (n.372+2799G>T) | |
5 | g.149981151C>A | CA361708124 | SLC26A2 | c.1558C>A (p.Leu520Met) c.372+2800C>A (n.372+2800C>A) | |
5 | g.149981151C= | CA1590738658 | SLC26A2 | c.1558C= (p.Leu520=) c.372+2800C= (n.372+2800C=) | |
5 | g.149981151C>G | CA361708125 | SLC26A2 | c.1558C>G (p.Leu520Val) c.372+2800C>G (n.372+2800C>G) | |
5 | g.149981151C>T | CA447402690 | SLC26A2 | c.1558C>T (p.Leu520=) c.372+2800C>T (n.372+2800C>T) | dbSNP gnomAD v4 COSMIC |
5 | g.149981152T>A | CA361708126 | SLC26A2 | c.1559T>A (p.Leu520Gln) c.372+2801T>A (n.372+2801T>A) | |
5 | g.149981152T>C | CA361708127 | SLC26A2 | c.1559T>C (p.Leu520Pro) c.372+2801T>C (n.372+2801T>C) | |
5 | g.149981152T>G | CA361708128 | SLC26A2 | c.1559T>G (p.Leu520Arg) c.372+2801T>G (n.372+2801T>G) | |
5 | g.149981153G>A | CA3505459 | SLC26A2 | c.1560G>A (p.Leu520=) c.372+2802G>A (n.372+2802G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.149981153G>C | CA447402694 | SLC26A2 | c.1560G>C (p.Leu520=) c.372+2802G>C (n.372+2802G>C) | dbSNP |
5 | g.149981153G= | CA1590738659 | SLC26A2 | c.1560G= (p.Leu520=) c.372+2802G= (n.372+2802G=) | |
5 | g.149981153G>T | CA447402695 | SLC26A2 | c.1560G>T (p.Leu520=) c.372+2802G>T (n.372+2802G>T) | |
5 | g.149981154T>A | CA361708129 | SLC26A2 | c.1561T>A (p.Ser521Thr) c.372+2803T>A (n.372+2803T>A) | gnomAD v4 |
5 | g.149981154T>C | CA361708130 | SLC26A2 | c.1561T>C (p.Ser521Pro) c.372+2803T>C (n.372+2803T>C) |