| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981412del | CA2582341640 | SLC26A2 | c.1819del (p.Ile607SerfsTer2) c.372+3061del (n.372+3061del) | ClinVar |
| 5 | g.149981412A= | CA1590738770 | SLC26A2 | c.1819A= (p.Ile607=) c.372+3061A= (n.372+3061A=) | |
| 5 | g.149981412A>C | CA361708917 | SLC26A2 | c.1819A>C (p.Ile607Leu) c.372+3061A>C (n.372+3061A>C) | |
| 5 | g.149981412A>G | CA3505500 | SLC26A2 | c.1819A>G (p.Ile607Val) c.372+3061A>G (n.372+3061A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981412A>T | CA361708920 | SLC26A2 | c.1819A>T (p.Ile607Phe) c.372+3061A>T (n.372+3061A>T) | |
| 5 | g.149981413T>A | CA361708922 | SLC26A2 | c.1820T>A (p.Ile607Asn) c.372+3062T>A (n.372+3062T>A) | |
| 5 | g.149981413T>C | CA361708923 | SLC26A2 | c.1820T>C (p.Ile607Thr) c.372+3062T>C (n.372+3062T>C) | |
| 5 | g.149981413T>G | CA361708925 | SLC26A2 | c.1820T>G (p.Ile607Ser) c.372+3062T>G (n.372+3062T>G) | |
| 5 | g.149981414C>A | CA447402791 | SLC26A2 | c.1821C>A (p.Ile607=) c.372+3063C>A (n.372+3063C>A) | |
| 5 | g.149981414C= | CA1590738771 | SLC26A2 | c.1821C= (p.Ile607=) c.372+3063C= (n.372+3063C=) | |
| 5 | g.149981414C>G | CA361708927 | SLC26A2 | c.1821C>G (p.Ile607Met) c.372+3063C>G (n.372+3063C>G) | |
| 5 | g.149981414C>T | CA447402793 | SLC26A2 | c.1821C>T (p.Ile607=) c.372+3063C>T (n.372+3063C>T) | dbSNP |
| 5 | g.149981415T>A | CA361708929 | SLC26A2 | c.1822T>A (p.Leu608Ile) c.372+3064T>A (n.372+3064T>A) | |
| 5 | g.149981415T>C | CA447402794 | SLC26A2 | c.1822T>C (p.Leu608=) c.372+3064T>C (n.372+3064T>C) | |
| 5 | g.149981415T>G | CA361708931 | SLC26A2 | c.1822T>G (p.Leu608Val) c.372+3064T>G (n.372+3064T>G) | |
| 5 | g.149981416T>A | CA361708932 | SLC26A2 | c.1823T>A (p.Leu608Ter) c.372+3065T>A (n.372+3065T>A) | |
| 5 | g.149981416T>C | CA361708934 | SLC26A2 | c.1823T>C (p.Leu608Ser) c.372+3065T>C (n.372+3065T>C) | |
| 5 | g.149981416T>G | CA361708936 | SLC26A2 | c.1823T>G (p.Leu608Ter) c.372+3065T>G (n.372+3065T>G) | |
| 5 | g.149981417A>C | CA361708938 | SLC26A2 | c.1824A>C (p.Leu608Phe) c.372+3066A>C (n.372+3066A>C) | |
| 5 | g.149981417A>G | CA447402795 | SLC26A2 | c.1824A>G (p.Leu608=) c.372+3066A>G (n.372+3066A>G) | |
| 5 | g.149981417A>T | CA361708940 | SLC26A2 | c.1824A>T (p.Leu608Phe) c.372+3066A>T (n.372+3066A>T) | |
| 5 | g.149981418A>C | CA361708945 | SLC26A2 | c.1825A>C (p.Ile609Leu) c.372+3067A>C (n.372+3067A>C) | |
| 5 | g.149981418A>G | CA361708944 | SLC26A2 | c.1825A>G (p.Ile609Val) c.372+3067A>G (n.372+3067A>G) | |
| 5 | g.149981418A>T | CA361708942 | SLC26A2 | c.1825A>T (p.Ile609Leu) c.372+3067A>T (n.372+3067A>T) | |
| 5 | g.149981419T>A | CA361708950 | SLC26A2 | c.1826T>A (p.Ile609Lys) c.372+3068T>A (n.372+3068T>A) | |
| 5 | g.149981419T>C | CA361708947 | SLC26A2 | c.1826T>C (p.Ile609Thr) c.372+3068T>C (n.372+3068T>C) | |
| 5 | g.149981419T>G | CA361708948 | SLC26A2 | c.1826T>G (p.Ile609Arg) c.372+3068T>G (n.372+3068T>G) | |
| 5 | g.149981420A= | CA1590738772 | SLC26A2 | c.1827A= (p.Ile609=) c.372+3069A= (n.372+3069A=) | |
| 5 | g.149981420A>C | CA447402800 | SLC26A2 | c.1827A>C (p.Ile609=) c.372+3069A>C (n.372+3069A>C) | |
| 5 | g.149981420A>G | CA361708952 | SLC26A2 | c.1827A>G (p.Ile609Met) c.372+3069A>G (n.372+3069A>G) | |
| 5 | g.149981420A>T | CA447402799 | SLC26A2 | c.1827A>T (p.Ile609=) c.372+3069A>T (n.372+3069A>T) | dbSNP |
| 5 | g.149981421A>C | CA361708955 | SLC26A2 | c.1828A>C (p.Lys610Gln) c.372+3070A>C (n.372+3070A>C) | |
| 5 | g.149981421A>G | CA361708957 | SLC26A2 | c.1828A>G (p.Lys610Glu) c.372+3070A>G (n.372+3070A>G) | |
| 5 | g.149981421A>T | CA361708959 | SLC26A2 | c.1828A>T (p.Lys610Ter) c.372+3070A>T (n.372+3070A>T) | |
| 5 | g.149981422A>C | CA361708966 | SLC26A2 | c.1829A>C (p.Lys610Thr) c.372+3071A>C (n.372+3071A>C) | |
| 5 | g.149981422A>G | CA361708964 | SLC26A2 | c.1829A>G (p.Lys610Arg) c.372+3071A>G (n.372+3071A>G) | |
| 5 | g.149981422A>T | CA361708962 | SLC26A2 | c.1829A>T (p.Lys610Met) c.372+3071A>T (n.372+3071A>T) | |
| 5 | g.149981422_149981423delinsAG | CA1590738773 | SLC26A2 | c.1829_1830delinsAG (p.Lys610=) c.372+3071_372+3072delinsAG (n.372+3071_372+3072delinsAG) | |
| 5 | g.149981423G>A | CA447402803 | SLC26A2 | c.1830G>A (p.Lys610=) c.372+3072G>A (n.372+3072G>A) | |
| 5 | g.149981423G>C | CA361708968 | SLC26A2 | c.1830G>C (p.Lys610Asn) c.372+3072G>C (n.372+3072G>C) | gnomAD v4 |
| 5 | g.149981423G>T | CA361708970 | SLC26A2 | c.1830G>T (p.Lys610Asn) c.372+3072G>T (n.372+3072G>T) | |
| 5 | g.149981424del | CA16042586 | SLC26A2 | c.1831del (p.Val611TrpfsTer15) c.372+3073del (n.372+3073del) | ClinVar dbSNP |
| 5 | g.149981424G>A | CA361708974 | SLC26A2 | c.1831G>A (p.Val611Met) c.372+3073G>A (n.372+3073G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981424G>C | CA129084669 | SLC26A2 | c.1831G>C (p.Val611Leu) c.372+3073G>C (n.372+3073G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981424G= | CA1590738774 | SLC26A2 | c.1831G= (p.Val611=) c.372+3073G= (n.372+3073G=) | |
| 5 | g.149981424G>T | CA3505501 | SLC26A2 | c.1831G>T (p.Val611Leu) c.372+3073G>T (n.372+3073G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981425T>A | CA361708978 | SLC26A2 | c.1832T>A (p.Val611Glu) c.372+3074T>A (n.372+3074T>A) | |
| 5 | g.149981425T>C | CA3505502 | SLC26A2 | c.1832T>C (p.Val611Ala) c.372+3074T>C (n.372+3074T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981425T>G | CA361708981 | SLC26A2 | c.1832T>G (p.Val611Gly) c.372+3074T>G (n.372+3074T>G) | |
| 5 | g.149981425T= | CA1590738775 | SLC26A2 | c.1832T= (p.Val611=) c.372+3074T= (n.372+3074T=) | |
| 5 | g.149981426G>A | CA447402805 | SLC26A2 | c.1833G>A (p.Val611=) c.372+3075G>A (n.372+3075G>A) | ClinVar |
| 5 | g.149981426G>C | CA447402806 | SLC26A2 | c.1833G>C (p.Val611=) c.372+3075G>C (n.372+3075G>C) | |
| 5 | g.149981426G>T | CA447402807 | SLC26A2 | c.1833G>T (p.Val611=) c.372+3075G>T (n.372+3075G>T) | ClinVar dbSNP |
| 5 | g.149981427G>A | CA361708985 | SLC26A2 | c.1834G>A (p.Ala612Thr) c.372+3076G>A (n.372+3076G>A) | gnomAD v4 |
| 5 | g.149981427G>C | CA361708987 | SLC26A2 | c.1834G>C (p.Ala612Pro) c.372+3076G>C (n.372+3076G>C) | |
| 5 | g.149981427G>T | CA361708988 | SLC26A2 | c.1834G>T (p.Ala612Ser) c.372+3076G>T (n.372+3076G>T) | |
| 5 | g.149981428C>A | CA361708991 | SLC26A2 | c.1835C>A (p.Ala612Asp) c.372+3077C>A (n.372+3077C>A) | |
| 5 | g.149981428C>G | CA361708992 | SLC26A2 | c.1835C>G (p.Ala612Gly) c.372+3077C>G (n.372+3077C>G) | |
| 5 | g.149981428C>T | CA361708994 | SLC26A2 | c.1835C>T (p.Ala612Val) c.372+3077C>T (n.372+3077C>T) | |
| 5 | g.149981429T>A | CA447402809 | SLC26A2 | c.1836T>A (p.Ala612=) c.372+3078T>A (n.372+3078T>A) | |
| 5 | g.149981429T>C | CA447402810 | SLC26A2 | c.1836T>C (p.Ala612=) c.372+3078T>C (n.372+3078T>C) | |
| 5 | g.149981429T>G | CA447402811 | SLC26A2 | c.1836T>G (p.Ala612=) c.372+3078T>G (n.372+3078T>G) | |
| 5 | g.149981430T>A | CA361708997 | SLC26A2 | c.1837T>A (p.Trp613Arg) c.372+3079T>A (n.372+3079T>A) | |
| 5 | g.149981430T>C | CA361708998 | SLC26A2 | c.1837T>C (p.Trp613Arg) c.372+3079T>C (n.372+3079T>C) | |
| 5 | g.149981430T>G | CA361709000 | SLC26A2 | c.1837T>G (p.Trp613Gly) c.372+3079T>G (n.372+3079T>G) | |
| 5 | g.149981431G>A | CA361709003 | SLC26A2 | c.1838G>A (p.Trp613Ter) c.372+3080G>A (n.372+3080G>A) | gnomAD v4 |
| 5 | g.149981431G>C | CA361709004 | SLC26A2 | c.1838G>C (p.Trp613Ser) c.372+3080G>C (n.372+3080G>C) | dbSNP |
| 5 | g.149981431G= | CA1590738777 | SLC26A2 | c.1838G= (p.Trp613=) c.372+3080G= (n.372+3080G=) | |
| 5 | g.149981431G>T | CA361709006 | SLC26A2 | c.1838G>T (p.Trp613Leu) c.372+3080G>T (n.372+3080G>T) | ClinVar gnomAD v4 |
| 5 | g.149981431_149981434delinsGGAA | CA1590738776 | SLC26A2 | c.1838_1841delinsGGAA (p.Trp613=) c.372+3080_372+3083delinsGGAA (n.372+3080_372+3083delinsGGAA) | |
| 5 | g.149981432G>A | CA361709009 | SLC26A2 | c.1839G>A (p.Trp613Ter) c.372+3081G>A (n.372+3081G>A) | |
| 5 | g.149981432G>C | CA361709010 | SLC26A2 | c.1839G>C (p.Trp613Cys) c.372+3081G>C (n.372+3081G>C) | |
| 5 | g.149981432G>T | CA361709012 | SLC26A2 | c.1839G>T (p.Trp613Cys) c.372+3081G>T (n.372+3081G>T) | |
| 5 | g.149981436_149981438del | CA3505503 | SLC26A2 | c.1843_1845del (p.Lys615del) c.372+3085_372+3087del (n.372+3085_372+3087del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981433A>C | CA361709014 | SLC26A2 | c.1840A>C (p.Lys614Gln) c.372+3082A>C (n.372+3082A>C) | |
| 5 | g.149981433A>G | CA361709015 | SLC26A2 | c.1840A>G (p.Lys614Glu) c.372+3082A>G (n.372+3082A>G) | |
| 5 | g.149981433A>T | CA361709017 | SLC26A2 | c.1840A>T (p.Lys614Ter) c.372+3082A>T (n.372+3082A>T) | |
| 5 | g.149981434A>C | CA361709020 | SLC26A2 | c.1841A>C (p.Lys614Thr) c.372+3083A>C (n.372+3083A>C) | |
| 5 | g.149981434A>G | CA361709022 | SLC26A2 | c.1841A>G (p.Lys614Arg) c.372+3083A>G (n.372+3083A>G) | gnomAD v4 |
| 5 | g.149981434A>T | CA361709024 | SLC26A2 | c.1841A>T (p.Lys614Met) c.372+3083A>T (n.372+3083A>T) | |
| 5 | g.149981435G>A | CA447402815 | SLC26A2 | c.1842G>A (p.Lys614=) c.372+3084G>A (n.372+3084G>A) | |
| 5 | g.149981435G>C | CA361709026 | SLC26A2 | c.1842G>C (p.Lys614Asn) c.372+3084G>C (n.372+3084G>C) | |
| 5 | g.149981435G>T | CA361709028 | SLC26A2 | c.1842G>T (p.Lys614Asn) c.372+3084G>T (n.372+3084G>T) | |
| 5 | g.149981436A>C | CA361709030 | SLC26A2 | c.1843A>C (p.Lys615Gln) c.372+3085A>C (n.372+3085A>C) | |
| 5 | g.149981436A>G | CA361709032 | SLC26A2 | c.1843A>G (p.Lys615Glu) c.372+3085A>G (n.372+3085A>G) | |
| 5 | g.149981436A>T | CA361709034 | SLC26A2 | c.1843A>T (p.Lys615Ter) c.372+3085A>T (n.372+3085A>T) | |
| 5 | g.149981437A= | CA1590738778 | SLC26A2 | c.1844A= (p.Lys615=) c.372+3086A= (n.372+3086A=) | |
| 5 | g.149981437A>C | CA361709041 | SLC26A2 | c.1844A>C (p.Lys615Thr) c.372+3086A>C (n.372+3086A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981437A>G | CA361709036 | SLC26A2 | c.1844A>G (p.Lys615Arg) c.372+3086A>G (n.372+3086A>G) | |
| 5 | g.149981437A>T | CA361709039 | SLC26A2 | c.1844A>T (p.Lys615Met) c.372+3086A>T (n.372+3086A>T) | |
| 5 | g.149981438G>A | CA129084676 | SLC26A2 | c.1845G>A (p.Lys615=) c.372+3087G>A (n.372+3087G>A) | dbSNP gnomAD v4 |
| 5 | g.149981438G>C | CA3505504 | SLC26A2 | c.1845G>C (p.Lys615Asn) c.372+3087G>C (n.372+3087G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981438G= | CA1590738779 | SLC26A2 | c.1845G= (p.Lys615=) c.372+3087G= (n.372+3087G=) | |
| 5 | g.149981438G>T | CA361709045 | SLC26A2 | c.1845G>T (p.Lys615Asn) c.372+3087G>T (n.372+3087G>T) | |
| 5 | g.149981439G>A | CA361709047 | SLC26A2 | c.1846G>A (p.Ala616Thr) c.372+3088G>A (n.372+3088G>A) | COSMIC |
| 5 | g.149981439G>C | CA361709049 | SLC26A2 | c.1846G>C (p.Ala616Pro) c.372+3088G>C (n.372+3088G>C) | |
| 5 | g.149981439G>T | CA361709051 | SLC26A2 | c.1846G>T (p.Ala616Ser) c.372+3088G>T (n.372+3088G>T) | gnomAD v4 |
| 5 | g.149981439_149981440insTT | CA2534965532 | SLC26A2 | c.1846_1847insTT (p.Ala616ValfsTer11) c.372+3088_372+3089insTT (n.372+3088_372+3089insTT) | |
| 5 | g.149981440del | CA2695198766 | SLC26A2 | c.1847del (p.Ala616GlufsTer10) c.372+3089del (n.372+3089del) | ClinVar |
| 5 | g.149981440C>A | CA361709053 | SLC26A2 | c.1847C>A (p.Ala616Glu) c.372+3089C>A (n.372+3089C>A) | |
| 5 | g.149981440C= | CA1590738780 | SLC26A2 | c.1847C= (p.Ala616=) c.372+3089C= (n.372+3089C=) | |
| 5 | g.149981440C>G | CA361709055 | SLC26A2 | c.1847C>G (p.Ala616Gly) c.372+3089C>G (n.372+3089C>G) | |
| 5 | g.149981440C>T | CA3505505 | SLC26A2 | c.1847C>T (p.Ala616Val) c.372+3089C>T (n.372+3089C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981440_149981441insTTGTA | CA2552664935 | SLC26A2 | c.1847_1848insTTGTA (p.Ala617CysfsTer11) c.372+3089_372+3090insTTGTA (n.372+3089_372+3090insTTGTA) | |
| 5 | g.149981441A>C | CA447402818 | SLC26A2 | c.1848A>C (p.Ala616=) c.372+3090A>C (n.372+3090A>C) | |
| 5 | g.149981441A>G | CA447402819 | SLC26A2 | c.1848A>G (p.Ala616=) c.372+3090A>G (n.372+3090A>G) | |
| 5 | g.149981441A>T | CA447402820 | SLC26A2 | c.1848A>T (p.Ala616=) c.372+3090A>T (n.372+3090A>T) | |
| 5 | g.149981442G>A | CA361709058 | SLC26A2 | c.1849G>A (p.Ala617Thr) c.372+3091G>A (n.372+3091G>A) | ClinVar dbSNP |
| 5 | g.149981442G>C | CA361709060 | SLC26A2 | c.1849G>C (p.Ala617Pro) c.372+3091G>C (n.372+3091G>C) | |
| 5 | g.149981442G>T | CA361709062 | SLC26A2 | c.1849G>T (p.Ala617Ser) c.372+3091G>T (n.372+3091G>T) | |
| 5 | g.149981443C>A | CA361709066 | SLC26A2 | c.1850C>A (p.Ala617Glu) c.372+3092C>A (n.372+3092C>A) | |
| 5 | g.149981443C>G | CA361709068 | SLC26A2 | c.1850C>G (p.Ala617Gly) c.372+3092C>G (n.372+3092C>G) | |
| 5 | g.149981443C>T | CA361709065 | SLC26A2 | c.1850C>T (p.Ala617Val) c.372+3092C>T (n.372+3092C>T) | |
| 5 | g.149981444A>C | CA447402824 | SLC26A2 | c.1851A>C (p.Ala617=) c.372+3093A>C (n.372+3093A>C) | |
| 5 | g.149981444A>G | CA447402825 | SLC26A2 | c.1851A>G (p.Ala617=) c.372+3093A>G (n.372+3093A>G) | ClinVar gnomAD v4 |
| 5 | g.149981444A>T | CA447402822 | SLC26A2 | c.1851A>T (p.Ala617=) c.372+3093A>T (n.372+3093A>T) | |
| 5 | g.149981445A>C | CA361709070 | SLC26A2 | c.1852A>C (p.Lys618Gln) c.372+3094A>C (n.372+3094A>C) | |
| 5 | g.149981445A>G | CA361709071 | SLC26A2 | c.1852A>G (p.Lys618Glu) c.372+3094A>G (n.372+3094A>G) | |
| 5 | g.149981445A>T | CA361709073 | SLC26A2 | c.1852A>T (p.Lys618Ter) c.372+3094A>T (n.372+3094A>T) | |
| 5 | g.149981446A>C | CA361709076 | SLC26A2 | c.1853A>C (p.Lys618Thr) c.372+3095A>C (n.372+3095A>C) | |
| 5 | g.149981446A>G | CA361709077 | SLC26A2 | c.1853A>G (p.Lys618Arg) c.372+3095A>G (n.372+3095A>G) | |
| 5 | g.149981446A>T | CA361709079 | SLC26A2 | c.1853A>T (p.Lys618Met) c.372+3095A>T (n.372+3095A>T) | |
| 5 | g.149981449_149981450del | CA913108431 | SLC26A2 | c.1856_1857del (p.Arg619LysfsTer15) c.372+3098_372+3099del (n.372+3098_372+3099del) | |
| 5 | g.149981447G>A | CA3505506 | SLC26A2 | c.1854G>A (p.Lys618=) c.372+3096G>A (n.372+3096G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981447G>C | CA361709084 | SLC26A2 | c.1854G>C (p.Lys618Asn) c.372+3096G>C (n.372+3096G>C) | |
| 5 | g.149981447G= | CA1590738781 | SLC26A2 | c.1854G= (p.Lys618=) c.372+3096G= (n.372+3096G=) | |
| 5 | g.149981447G>T | CA361709081 | SLC26A2 | c.1854G>T (p.Lys618Asn) c.372+3096G>T (n.372+3096G>T) | |
| 5 | g.149981448A= | CA1590738782 | SLC26A2 | c.1855A= (p.Arg619=) c.372+3097A= (n.372+3097A=) | |
| 5 | g.149981448A>C | CA447402830 | SLC26A2 | c.1855A>C (p.Arg619=) c.372+3097A>C (n.372+3097A>C) | |
| 5 | g.149981448A>G | CA361709086 | SLC26A2 | c.1855A>G (p.Arg619Gly) c.372+3097A>G (n.372+3097A>G) | dbSNP |
| 5 | g.149981448A>T | CA361709088 | SLC26A2 | c.1855A>T (p.Arg619Ter) c.372+3097A>T (n.372+3097A>T) | |
| 5 | g.149981449G>A | CA3505507 | SLC26A2 | c.1856G>A (p.Arg619Lys) c.372+3098G>A (n.372+3098G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981449G>C | CA361709091 | SLC26A2 | c.1856G>C (p.Arg619Thr) c.372+3098G>C (n.372+3098G>C) | |
| 5 | g.149981449G= | CA1590738784 | SLC26A2 | c.1856G= (p.Arg619=) c.372+3098G= (n.372+3098G=) | |
| 5 | g.149981449G>T | CA361709094 | SLC26A2 | c.1856G>T (p.Arg619Ile) c.372+3098G>T (n.372+3098G>T) | COSMIC |
| 5 | g.149981449_149981450delinsGA | CA1590738783 | SLC26A2 | c.1856_1857delinsGA (p.Arg619=) c.372+3098_372+3099delinsGA (n.372+3098_372+3099delinsGA) | |
| 5 | g.149981450A>C | CA361709096 | SLC26A2 | c.1857A>C (p.Arg619Ser) c.372+3099A>C (n.372+3099A>C) | |
| 5 | g.149981450A>G | CA447402833 | SLC26A2 | c.1857A>G (p.Arg619=) c.372+3099A>G (n.372+3099A>G) | |
| 5 | g.149981450A>T | CA361709098 | SLC26A2 | c.1857A>T (p.Arg619Ser) c.372+3099A>T (n.372+3099A>T) | |
| 5 | g.149981452del | CA658823315 | SLC26A2 | c.1859del (p.Lys620ArgfsTer6) c.372+3101del (n.372+3101del) | ClinVar dbSNP |
| 5 | g.149981451A>C | CA361709100 | SLC26A2 | c.1858A>C (p.Lys620Gln) c.372+3100A>C (n.372+3100A>C) | gnomAD v4 |
| 5 | g.149981451A>G | CA361709104 | SLC26A2 | c.1858A>G (p.Lys620Glu) c.372+3100A>G (n.372+3100A>G) | |
| 5 | g.149981451A>T | CA361709102 | SLC26A2 | c.1858A>T (p.Lys620Ter) c.372+3100A>T (n.372+3100A>T) | |
| 5 | g.149981452A= | CA1590738785 | SLC26A2 | c.1859A= (p.Lys620=) c.372+3101A= (n.372+3101A=) | |
| 5 | g.149981452A>C | CA361709108 | SLC26A2 | c.1859A>C (p.Lys620Thr) c.372+3101A>C (n.372+3101A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981452A>G | CA361709110 | SLC26A2 | c.1859A>G (p.Lys620Arg) c.372+3101A>G (n.372+3101A>G) | |
| 5 | g.149981452A>T | CA361709111 | SLC26A2 | c.1859A>T (p.Lys620Met) c.372+3101A>T (n.372+3101A>T) | |
| 5 | g.149981453G>A | CA447402837 | SLC26A2 | c.1860G>A (p.Lys620=) c.372+3102G>A (n.372+3102G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981453G>C | CA361709113 | SLC26A2 | c.1860G>C (p.Lys620Asn) c.372+3102G>C (n.372+3102G>C) | |
| 5 | g.149981453G= | CA1590738786 | SLC26A2 | c.1860G= (p.Lys620=) c.372+3102G= (n.372+3102G=) | |
| 5 | g.149981453G>T | CA361709116 | SLC26A2 | c.1860G>T (p.Lys620Asn) c.372+3102G>T (n.372+3102G>T) | |
| 5 | g.149981454A= | CA1590738787 | SLC26A2 | c.1861A= (p.Ile621=) c.372+3103A= (n.372+3103A=) | |
| 5 | g.149981454A>C | CA361709118 | SLC26A2 | c.1861A>C (p.Ile621Leu) c.372+3103A>C (n.372+3103A>C) | |
| 5 | g.149981454A>G | CA3505508 | SLC26A2 | c.1861A>G (p.Ile621Val) c.372+3103A>G (n.372+3103A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.149981454A>T | CA361709120 | SLC26A2 | c.1861A>T (p.Ile621Phe) c.372+3103A>T (n.372+3103A>T) | |
| 5 | g.149981455T>A | CA361709122 | SLC26A2 | c.1862T>A (p.Ile621Asn) c.372+3104T>A (n.372+3104T>A) | |
| 5 | g.149981455T>C | CA3505509 | SLC26A2 | c.1862T>C (p.Ile621Thr) c.372+3104T>C (n.372+3104T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981455T>G | CA361709124 | SLC26A2 | c.1862T>G (p.Ile621Ser) c.372+3104T>G (n.372+3104T>G) | |
| 5 | g.149981455T= | CA1590738788 | SLC26A2 | c.1862T= (p.Ile621=) c.372+3104T= (n.372+3104T=) | |
| 5 | g.149981456C>A | CA447402841 | SLC26A2 | c.1863C>A (p.Ile621=) c.372+3105C>A (n.372+3105C>A) | |
| 5 | g.149981456C>G | CA361709127 | SLC26A2 | c.1863C>G (p.Ile621Met) c.372+3105C>G (n.372+3105C>G) | COSMIC |
| 5 | g.149981456C>T | CA447402840 | SLC26A2 | c.1863C>T (p.Ile621=) c.372+3105C>T (n.372+3105C>T) | |
| 5 | g.149981457A= | CA1590738789 | SLC26A2 | c.1864A= (p.Lys622=) c.372+3106A= (n.372+3106A=) | |
| 5 | g.149981457A>C | CA361709129 | SLC26A2 | c.1864A>C (p.Lys622Gln) c.372+3106A>C (n.372+3106A>C) | gnomAD v4 |
| 5 | g.149981457A>G | CA361709132 | SLC26A2 | c.1864A>G (p.Lys622Glu) c.372+3106A>G (n.372+3106A>G) | |
| 5 | g.149981457A>T | CA361709131 | SLC26A2 | c.1864A>T (p.Lys622Ter) c.372+3106A>T (n.372+3106A>T) | dbSNP |
| 5 | g.149981458A= | CA1590738790 | SLC26A2 | c.1865A= (p.Lys622=) c.372+3107A= (n.372+3107A=) | |
| 5 | g.149981458A>C | CA361709133 | SLC26A2 | c.1865A>C (p.Lys622Thr) c.372+3107A>C (n.372+3107A>C) | |
| 5 | g.149981458A>G | CA361709135 | SLC26A2 | c.1865A>G (p.Lys622Arg) c.372+3107A>G (n.372+3107A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981458A>T | CA361709137 | SLC26A2 | c.1865A>T (p.Lys622Ile) c.372+3107A>T (n.372+3107A>T) | |
| 5 | g.149981459A>C | CA361709139 | SLC26A2 | c.1866A>C (p.Lys622Asn) c.372+3108A>C (n.372+3108A>C) | |
| 5 | g.149981459A>G | CA447402845 | SLC26A2 | c.1866A>G (p.Lys622=) c.372+3108A>G (n.372+3108A>G) | |
| 5 | g.149981459A>T | CA361709141 | SLC26A2 | c.1866A>T (p.Lys622Asn) c.372+3108A>T (n.372+3108A>T) | |
| 5 | g.149981460G>A | CA361709143 | SLC26A2 | c.1867G>A (p.Glu623Lys) c.372+3109G>A (n.372+3109G>A) | |
| 5 | g.149981460G>C | CA361709145 | SLC26A2 | c.1867G>C (p.Glu623Gln) c.372+3109G>C (n.372+3109G>C) | |
| 5 | g.149981460G>T | CA361709147 | SLC26A2 | c.1867G>T (p.Glu623Ter) c.372+3109G>T (n.372+3109G>T) | |
| 5 | g.149981460dup | CA2675943655 | SLC26A2 | c.1867dup (p.Glu623GlyfsTer12) c.372+3109dup (n.372+3109dup) | gnomAD v4 |
| 5 | g.149981461A>C | CA361709148 | SLC26A2 | c.1868A>C (p.Glu623Ala) c.372+3110A>C (n.372+3110A>C) | |
| 5 | g.149981461A>G | CA361709151 | SLC26A2 | c.1868A>G (p.Glu623Gly) c.372+3110A>G (n.372+3110A>G) | |
| 5 | g.149981461A>T | CA361709153 | SLC26A2 | c.1868A>T (p.Glu623Val) c.372+3110A>T (n.372+3110A>T) | |
| 5 | g.149981462A>C | CA361709155 | SLC26A2 | c.1869A>C (p.Glu623Asp) c.372+3111A>C (n.372+3111A>C) | |
| 5 | g.149981462A>G | CA447402847 | SLC26A2 | c.1869A>G (p.Glu623=) c.372+3111A>G (n.372+3111A>G) | |
| 5 | g.149981462A>T | CA361709157 | SLC26A2 | c.1869A>T (p.Glu623Asp) c.372+3111A>T (n.372+3111A>T) | |
| 5 | g.149981463A>C | CA361709164 | SLC26A2 | c.1870A>C (p.Lys624Gln) c.372+3112A>C (n.372+3112A>C) | |
| 5 | g.149981463A>G | CA361709160 | SLC26A2 | c.1870A>G (p.Lys624Glu) c.372+3112A>G (n.372+3112A>G) | |
| 5 | g.149981463A>T | CA361709162 | SLC26A2 | c.1870A>T (p.Lys624Ter) c.372+3112A>T (n.372+3112A>T) | |
| 5 | g.149981464A>C | CA361709167 | SLC26A2 | c.1871A>C (p.Lys624Thr) c.372+3113A>C (n.372+3113A>C) | |
| 5 | g.149981464A>G | CA361709168 | SLC26A2 | c.1871A>G (p.Lys624Arg) c.372+3113A>G (n.372+3113A>G) | |
| 5 | g.149981464A>T | CA361709170 | SLC26A2 | c.1871A>T (p.Lys624Ile) c.372+3113A>T (n.372+3113A>T) | |
| 5 | g.149981464_149981467delinsAAGT | CA1590738791 | SLC26A2 | c.1871_1874delinsAAGT (p.Lys624=) c.372+3113_372+3116delinsAAGT (n.372+3113_372+3116delinsAAGT) | |
| 5 | g.149981465A>C | CA361709172 | SLC26A2 | c.1872A>C (p.Lys624Asn) c.372+3114A>C (n.372+3114A>C) | gnomAD v4 |
| 5 | g.149981465A>G | CA447402849 | SLC26A2 | c.1872A>G (p.Lys624=) c.372+3114A>G (n.372+3114A>G) | ClinVar dbSNP |
| 5 | g.149981465A>T | CA361709174 | SLC26A2 | c.1872A>T (p.Lys624Asn) c.372+3114A>T (n.372+3114A>T) | |
| 5 | g.149981468_149981470del | CA563955705 | SLC26A2 | c.1875_1877del (p.Val626del) c.372+3117_372+3119del (n.372+3117_372+3119del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981466G>A | CA361709176 | SLC26A2 | c.1873G>A (p.Val625Ile) c.372+3115G>A (n.372+3115G>A) | |
| 5 | g.149981466G>C | CA361709177 | SLC26A2 | c.1873G>C (p.Val625Leu) c.372+3115G>C (n.372+3115G>C) | |
| 5 | g.149981466G>T | CA361709179 | SLC26A2 | c.1873G>T (p.Val625Leu) c.372+3115G>T (n.372+3115G>T) | |
| 5 | g.149981467T>A | CA361709181 | SLC26A2 | c.1874T>A (p.Val625Glu) c.372+3116T>A (n.372+3116T>A) | |
| 5 | g.149981467T>C | CA361709182 | SLC26A2 | c.1874T>C (p.Val625Ala) c.372+3116T>C (n.372+3116T>C) | gnomAD v4 |
| 5 | g.149981467T>G | CA361709184 | SLC26A2 | c.1874T>G (p.Val625Gly) c.372+3116T>G (n.372+3116T>G) | |
| 5 | g.149981468A>C | CA447402852 | SLC26A2 | c.1875A>C (p.Val625=) c.372+3117A>C (n.372+3117A>C) | |
| 5 | g.149981468A>G | CA447402853 | SLC26A2 | c.1875A>G (p.Val625=) c.372+3117A>G (n.372+3117A>G) | |
| 5 | g.149981468A>T | CA447402854 | SLC26A2 | c.1875A>T (p.Val625=) c.372+3117A>T (n.372+3117A>T) | |
| 5 | g.149981469G>A | CA361709188 | SLC26A2 | c.1876G>A (p.Val626Met) c.372+3118G>A (n.372+3118G>A) | gnomAD v4 |
| 5 | g.149981469G>C | CA361709192 | SLC26A2 | c.1876G>C (p.Val626Leu) c.372+3118G>C (n.372+3118G>C) | COSMIC |
| 5 | g.149981469G>T | CA361709190 | SLC26A2 | c.1876G>T (p.Val626Leu) c.372+3118G>T (n.372+3118G>T) | |
| 5 | g.149981470T>A | CA361709194 | SLC26A2 | c.1877T>A (p.Val626Glu) c.372+3119T>A (n.372+3119T>A) | |
| 5 | g.149981470T>C | CA361709198 | SLC26A2 | c.1877T>C (p.Val626Ala) c.372+3119T>C (n.372+3119T>C) | |
| 5 | g.149981470T>G | CA361709196 | SLC26A2 | c.1877T>G (p.Val626Gly) c.372+3119T>G (n.372+3119T>G) | gnomAD v4 |
| 5 | g.149981470_149981471delinsTG | CA1590738792 | SLC26A2 | c.1877_1878delinsTG (p.Val626=) c.372+3119_372+3120delinsTG (n.372+3119_372+3120delinsTG) | |
| 5 | g.149981471del | CA1139659145 | SLC26A2 | c.1878del (p.Thr627LeufsTer23) c.372+3120del (n.372+3120del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149981471G>A | CA447402858 | SLC26A2 | c.1878G>A (p.Val626=) c.372+3120G>A (n.372+3120G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981471G>C | CA447402856 | SLC26A2 | c.1878G>C (p.Val626=) c.372+3120G>C (n.372+3120G>C) | gnomAD v4 |
| 5 | g.149981471G= | CA1590738793 | SLC26A2 | c.1878G= (p.Val626=) c.372+3120G= (n.372+3120G=) | |
| 5 | g.149981471G>T | CA447402857 | SLC26A2 | c.1878G>T (p.Val626=) c.372+3120G>T (n.372+3120G>T) | |
| 5 | g.149981472A>C | CA361709200 | SLC26A2 | c.1879A>C (p.Thr627Pro) c.372+3121A>C (n.372+3121A>C) | |
| 5 | g.149981472A>G | CA361709202 | SLC26A2 | c.1879A>G (p.Thr627Ala) c.372+3121A>G (n.372+3121A>G) | gnomAD v4 |
| 5 | g.149981472A>T | CA361709204 | SLC26A2 | c.1879A>T (p.Thr627Ser) c.372+3121A>T (n.372+3121A>T) | |
| 5 | g.149981473C>A | CA361709206 | SLC26A2 | c.1880C>A (p.Thr627Asn) c.372+3122C>A (n.372+3122C>A) | |
| 5 | g.149981473C= | CA1590738794 | SLC26A2 | c.1880C= (p.Thr627=) c.372+3122C= (n.372+3122C=) | |
| 5 | g.149981473C>G | CA361709208 | SLC26A2 | c.1880C>G (p.Thr627Ser) c.372+3122C>G (n.372+3122C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981473C>T | CA361709209 | SLC26A2 | c.1880C>T (p.Thr627Ile) c.372+3122C>T (n.372+3122C>T) | |
| 5 | g.149981474T>A | CA447402861 | SLC26A2 | c.1881T>A (p.Thr627=) c.372+3123T>A (n.372+3123T>A) | |
| 5 | g.149981474T>C | CA447402863 | SLC26A2 | c.1881T>C (p.Thr627=) c.372+3123T>C (n.372+3123T>C) | |
| 5 | g.149981474T>G | CA447402864 | SLC26A2 | c.1881T>G (p.Thr627=) c.372+3123T>G (n.372+3123T>G) | |
| 5 | g.149981475C>A | CA361709211 | SLC26A2 | c.1882C>A (p.Leu628Ile) c.372+3124C>A (n.372+3124C>A) | |
| 5 | g.149981475C= | CA1590738795 | SLC26A2 | c.1882C= (p.Leu628=) c.372+3124C= (n.372+3124C=) | |
| 5 | g.149981475C>G | CA3505510 | SLC26A2 | c.1882C>G (p.Leu628Val) c.372+3124C>G (n.372+3124C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981475C>T | CA3505511 | SLC26A2 | c.1882C>T (p.Leu628Phe) c.372+3124C>T (n.372+3124C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981476T>A | CA361709215 | SLC26A2 | c.1883T>A (p.Leu628His) c.372+3125T>A (n.372+3125T>A) | |
| 5 | g.149981476T>C | CA361709216 | SLC26A2 | c.1883T>C (p.Leu628Pro) c.372+3125T>C (n.372+3125T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149981476T>G | CA361709218 | SLC26A2 | c.1883T>G (p.Leu628Arg) c.372+3125T>G (n.372+3125T>G) | |
| 5 | g.149981476T= | CA1590738796 | SLC26A2 | c.1883T= (p.Leu628=) c.372+3125T= (n.372+3125T=) | |
| 5 | g.149981477T>A | CA447402866 | SLC26A2 | c.1884T>A (p.Leu628=) c.372+3126T>A (n.372+3126T>A) | |
| 5 | g.149981477T>C | CA447402865 | SLC26A2 | c.1884T>C (p.Leu628=) c.372+3126T>C (n.372+3126T>C) | |
| 5 | g.149981477T>G | CA447402867 | SLC26A2 | c.1884T>G (p.Leu628=) c.372+3126T>G (n.372+3126T>G) | |
| 5 | g.149981478G>A | CA361709220 | SLC26A2 | c.1885G>A (p.Gly629Ser) c.372+3127G>A (n.372+3127G>A) | gnomAD v4 |
| 5 | g.149981478G>C | CA361709224 | SLC26A2 | c.1885G>C (p.Gly629Arg) c.372+3127G>C (n.372+3127G>C) | |
| 5 | g.149981478G>T | CA361709222 | SLC26A2 | c.1885G>T (p.Gly629Cys) c.372+3127G>T (n.372+3127G>T) | |
| 5 | g.149981479G>A | CA361709226 | SLC26A2 | c.1886G>A (p.Gly629Asp) c.372+3128G>A (n.372+3128G>A) | |
| 5 | g.149981479G>C | CA361709228 | SLC26A2 | c.1886G>C (p.Gly629Ala) c.372+3128G>C (n.372+3128G>C) | |
| 5 | g.149981479G>T | CA361709230 | SLC26A2 | c.1886G>T (p.Gly629Val) c.372+3128G>T (n.372+3128G>T) | |
| 5 | g.149981480T>A | CA447402869 | SLC26A2 | c.1887T>A (p.Gly629=) c.372+3129T>A (n.372+3129T>A) | |
| 5 | g.149981480T>C | CA447402870 | SLC26A2 | c.1887T>C (p.Gly629=) c.372+3129T>C (n.372+3129T>C) | |
| 5 | g.149981480T>G | CA447402871 | SLC26A2 | c.1887T>G (p.Gly629=) c.372+3129T>G (n.372+3129T>G) | gnomAD v4 |
| 5 | g.149981481G>A | CA361709232 | SLC26A2 | c.1888G>A (p.Gly630Arg) c.372+3130G>A (n.372+3130G>A) | gnomAD v4 |
| 5 | g.149981481G>C | CA361709234 | SLC26A2 | c.1888G>C (p.Gly630Arg) c.372+3130G>C (n.372+3130G>C) | |
| 5 | g.149981481G= | CA1590738797 | SLC26A2 | c.1888G= (p.Gly630=) c.372+3130G= (n.372+3130G=) | |
| 5 | g.149981481G>T | CA3505512 | SLC26A2 | c.1888G>T (p.Gly630Ter) c.372+3130G>T (n.372+3130G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981482del | CA2675943656 | SLC26A2 | c.1889del (p.Gly630GlufsTer20) c.372+3131del (n.372+3131del) | gnomAD v4 |
| 5 | g.149981482G>A | CA361709236 | SLC26A2 | c.1889G>A (p.Gly630Glu) c.372+3131G>A (n.372+3131G>A) | |
| 5 | g.149981482G>C | CA361709238 | SLC26A2 | c.1889G>C (p.Gly630Ala) c.372+3131G>C (n.372+3131G>C) | |
| 5 | g.149981482G>T | CA361709239 | SLC26A2 | c.1889G>T (p.Gly630Val) c.372+3131G>T (n.372+3131G>T) | |
| 5 | g.149981483A>C | CA447402874 | SLC26A2 | c.1890A>C (p.Gly630=) c.372+3132A>C (n.372+3132A>C) | |
| 5 | g.149981483A>G | CA447402876 | SLC26A2 | c.1890A>G (p.Gly630=) c.372+3132A>G (n.372+3132A>G) | |
| 5 | g.149981483A>T | CA447402877 | SLC26A2 | c.1890A>T (p.Gly630=) c.372+3132A>T (n.372+3132A>T) | |
| 5 | g.149981484A>C | CA361709244 | SLC26A2 | c.1891A>C (p.Ile631Leu) c.372+3133A>C (n.372+3133A>C) | |
| 5 | g.149981484A>G | CA361709245 | SLC26A2 | c.1891A>G (p.Ile631Val) c.372+3133A>G (n.372+3133A>G) | |
| 5 | g.149981484A>T | CA361709242 | SLC26A2 | c.1891A>T (p.Ile631Phe) c.372+3133A>T (n.372+3133A>T) | |
| 5 | g.149981485T>A | CA361709248 | SLC26A2 | c.1892T>A (p.Ile631Asn) c.372+3134T>A (n.372+3134T>A) | |
| 5 | g.149981485T>C | CA361709250 | SLC26A2 | c.1892T>C (p.Ile631Thr) c.372+3134T>C (n.372+3134T>C) | |
| 5 | g.149981485T>G | CA361709252 | SLC26A2 | c.1892T>G (p.Ile631Ser) c.372+3134T>G (n.372+3134T>G) | |
| 5 | g.149981486C>A | CA447402879 | SLC26A2 | c.1893C>A (p.Ile631=) c.372+3135C>A (n.372+3135C>A) | |
| 5 | g.149981486C>G | CA361709253 | SLC26A2 | c.1893C>G (p.Ile631Met) c.372+3135C>G (n.372+3135C>G) | |
| 5 | g.149981486C>T | CA447402881 | SLC26A2 | c.1893C>T (p.Ile631=) c.372+3135C>T (n.372+3135C>T) | |
| 5 | g.149981487C>A | CA361709255 | SLC26A2 | c.1894C>A (p.Gln632Lys) c.372+3136C>A (n.372+3136C>A) | |
| 5 | g.149981487C>G | CA361709257 | SLC26A2 | c.1894C>G (p.Gln632Glu) c.372+3136C>G (n.372+3136C>G) | |
| 5 | g.149981487C>T | CA361709259 | SLC26A2 | c.1894C>T (p.Gln632Ter) c.372+3136C>T (n.372+3136C>T) | |
| 5 | g.149981488A>C | CA361709261 | SLC26A2 | c.1895A>C (p.Gln632Pro) c.372+3137A>C (n.372+3137A>C) | |
| 5 | g.149981488A>G | CA361709262 | SLC26A2 | c.1895A>G (p.Gln632Arg) c.372+3137A>G (n.372+3137A>G) | gnomAD v4 |
| 5 | g.149981488A>T | CA361709264 | SLC26A2 | c.1895A>T (p.Gln632Leu) c.372+3137A>T (n.372+3137A>T) | |
| 5 | g.149981489G>A | CA447402922 | SLC26A2 | c.1896G>A (p.Gln632=) c.372+3138G>A (n.372+3138G>A) | |
| 5 | g.149981489G>C | CA361709267 | SLC26A2 | c.1896G>C (p.Gln632His) c.372+3138G>C (n.372+3138G>C) | |
| 5 | g.149981489G>T | CA361709268 | SLC26A2 | c.1896G>T (p.Gln632His) c.372+3138G>T (n.372+3138G>T) | |
| 5 | g.149981490G>A | CA3505513 | SLC26A2 | c.1897G>A (p.Asp633Asn) c.372+3139G>A (n.372+3139G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981490G>C | CA361709273 | SLC26A2 | c.1897G>C (p.Asp633His) c.372+3139G>C (n.372+3139G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149981490G= | CA1590738798 | SLC26A2 | c.1897G= (p.Asp633=) c.372+3139G= (n.372+3139G=) | |
| 5 | g.149981490G>T | CA361709271 | SLC26A2 | c.1897G>T (p.Asp633Tyr) c.372+3139G>T (n.372+3139G>T) | |
| 5 | g.149981491A= | CA1590738799 | SLC26A2 | c.1898A= (p.Asp633=) c.372+3140A= (n.372+3140A=) | |
| 5 | g.149981491A>C | CA361709275 | SLC26A2 | c.1898A>C (p.Asp633Ala) c.372+3140A>C (n.372+3140A>C) | |
| 5 | g.149981491A>G | CA361709277 | SLC26A2 | c.1898A>G (p.Asp633Gly) c.372+3140A>G (n.372+3140A>G) | |
| 5 | g.149981491A>T | CA361709278 | SLC26A2 | c.1898A>T (p.Asp633Val) c.372+3140A>T (n.372+3140A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981492T>A | CA361709279 | SLC26A2 | c.1899T>A (p.Asp633Glu) c.372+3141T>A (n.372+3141T>A) | |
| 5 | g.149981492T>C | CA447402923 | SLC26A2 | c.1899T>C (p.Asp633=) c.372+3141T>C (n.372+3141T>C) | |
| 5 | g.149981492T>G | CA361709281 | SLC26A2 | c.1899T>G (p.Asp633Glu) c.372+3141T>G (n.372+3141T>G) | |
| 5 | g.149981493G>A | CA361709286 | SLC26A2 | c.1900G>A (p.Glu634Lys) c.372+3142G>A (n.372+3142G>A) | dbSNP gnomAD v4 |
| 5 | g.149981493G>C | CA361709282 | SLC26A2 | c.1900G>C (p.Glu634Gln) c.372+3142G>C (n.372+3142G>C) | |
| 5 | g.149981493G= | CA1590738800 | SLC26A2 | c.1900G= (p.Glu634=) c.372+3142G= (n.372+3142G=) | |
| 5 | g.149981493G>T | CA361709284 | SLC26A2 | c.1900G>T (p.Glu634Ter) c.372+3142G>T (n.372+3142G>T) | |
| 5 | g.149981494A>C | CA361709288 | SLC26A2 | c.1901A>C (p.Glu634Ala) c.372+3143A>C (n.372+3143A>C) | |
| 5 | g.149981494A>G | CA361709289 | SLC26A2 | c.1901A>G (p.Glu634Gly) c.372+3143A>G (n.372+3143A>G) | |
| 5 | g.149981494A>T | CA361709291 | SLC26A2 | c.1901A>T (p.Glu634Val) c.372+3143A>T (n.372+3143A>T) | |
| 5 | g.149981495A= | CA1590738801 | SLC26A2 | c.1902A= (p.Glu634=) c.372+3144A= (n.372+3144A=) | |
| 5 | g.149981495A>C | CA361709293 | SLC26A2 | c.1902A>C (p.Glu634Asp) c.372+3144A>C (n.372+3144A>C) | |
| 5 | g.149981495A>G | CA447402924 | SLC26A2 | c.1902A>G (p.Glu634=) c.372+3144A>G (n.372+3144A>G) | dbSNP |
| 5 | g.149981495A>T | CA361709294 | SLC26A2 | c.1902A>T (p.Glu634Asp) c.372+3144A>T (n.372+3144A>T) | |
| 5 | g.149981495_149981496insGGTTCTTGT | CA917607705 | SLC26A2 | c.1902_1903insGGTTCTTGT (p.Glu634_Met635insGlySerCys) c.372+3144_372+3145insGGTTCTTGT (n.372+3144_372+3145insGGTTCTTGT) | dbSNP |
| 5 | g.149981496A>C | CA361709301 | SLC26A2 | c.1903A>C (p.Met635Leu) c.372+3145A>C (n.372+3145A>C) | |
| 5 | g.149981496A>G | CA361709299 | SLC26A2 | c.1903A>G (p.Met635Val) c.372+3145A>G (n.372+3145A>G) | gnomAD v4 |
| 5 | g.149981496A>T | CA361709297 | SLC26A2 | c.1903A>T (p.Met635Leu) c.372+3145A>T (n.372+3145A>T) | |
| 5 | g.149981497T>A | CA361709303 | SLC26A2 | c.1904T>A (p.Met635Lys) c.372+3146T>A (n.372+3146T>A) | |
| 5 | g.149981497T>C | CA361709307 | SLC26A2 | c.1904T>C (p.Met635Thr) c.372+3146T>C (n.372+3146T>C) | |
| 5 | g.149981497T>G | CA361709305 | SLC26A2 | c.1904T>G (p.Met635Arg) c.372+3146T>G (n.372+3146T>G) | |
| 5 | g.149981498G>A | CA129084710 | SLC26A2 | c.1905G>A (p.Met635Ile) c.372+3147G>A (n.372+3147G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981498G>C | CA361709312 | SLC26A2 | c.1905G>C (p.Met635Ile) c.372+3147G>C (n.372+3147G>C) | dbSNP |
| 5 | g.149981498G= | CA1590738802 | SLC26A2 | c.1905G= (p.Met635=) c.372+3147G= (n.372+3147G=) | |
| 5 | g.149981498G>T | CA361709310 | SLC26A2 | c.1905G>T (p.Met635Ile) c.372+3147G>T (n.372+3147G>T) | |
| 5 | g.149981499T>A | CA361709315 | SLC26A2 | c.1906T>A (p.Ser636Thr) c.372+3148T>A (n.372+3148T>A) | |
| 5 | g.149981499T>C | CA361709318 | SLC26A2 | c.1906T>C (p.Ser636Pro) c.372+3148T>C (n.372+3148T>C) | |
| 5 | g.149981499T>G | CA361709317 | SLC26A2 | c.1906T>G (p.Ser636Ala) c.372+3148T>G (n.372+3148T>G) | |
| 5 | g.149981500C>A | CA361709321 | SLC26A2 | c.1907C>A (p.Ser636Ter) c.372+3149C>A (n.372+3149C>A) | gnomAD v4 |
| 5 | g.149981500C= | CA1590738803 | SLC26A2 | c.1907C= (p.Ser636=) c.372+3149C= (n.372+3149C=) | |
| 5 | g.149981500C>G | CA361709322 | SLC26A2 | c.1907C>G (p.Ser636Ter) c.372+3149C>G (n.372+3149C>G) | |
| 5 | g.149981500C>T | CA129084715 | SLC26A2 | c.1907C>T (p.Ser636Leu) c.372+3149C>T (n.372+3149C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981501A= | CA1590738804 | SLC26A2 | c.1908A= (p.Ser636=) c.372+3150A= (n.372+3150A=) | |
| 5 | g.149981501A>C | CA447402925 | SLC26A2 | c.1908A>C (p.Ser636=) c.372+3150A>C (n.372+3150A>C) | |
| 5 | g.149981501A>G | CA3505514 | SLC26A2 | c.1908A>G (p.Ser636=) c.372+3150A>G (n.372+3150A>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.149981501A>T | CA447402926 | SLC26A2 | c.1908A>T (p.Ser636=) c.372+3150A>T (n.372+3150A>T) | |
| 5 | g.149981502G>A | CA3505515 | SLC26A2 | c.1909G>A (p.Val637Met) c.372+3151G>A (n.372+3151G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149981502G>C | CA361709328 | SLC26A2 | c.1909G>C (p.Val637Leu) c.372+3151G>C (n.372+3151G>C) | |
| 5 | g.149981502G= | CA1590738805 | SLC26A2 | c.1909G= (p.Val637=) c.372+3151G= (n.372+3151G=) | |
| 5 | g.149981502G>T | CA361709330 | SLC26A2 | c.1909G>T (p.Val637Leu) c.372+3151G>T (n.372+3151G>T) | |
| 5 | g.149981503T>A | CA361709333 | SLC26A2 | c.1910T>A (p.Val637Glu) c.372+3152T>A (n.372+3152T>A) | gnomAD v4 |
| 5 | g.149981503T>C | CA361709334 | SLC26A2 | c.1910T>C (p.Val637Ala) c.372+3152T>C (n.372+3152T>C) | gnomAD v4 |
| 5 | g.149981503T>G | CA361709336 | SLC26A2 | c.1910T>G (p.Val637Gly) c.372+3152T>G (n.372+3152T>G) | |
| 5 | g.149981504G>A | CA447402929 | SLC26A2 | c.1911G>A (p.Val637=) c.372+3153G>A (n.372+3153G>A) | dbSNP |
| 5 | g.149981504G>C | CA447402927 | SLC26A2 | c.1911G>C (p.Val637=) c.372+3153G>C (n.372+3153G>C) | |
| 5 | g.149981504G= | CA1590738806 | SLC26A2 | c.1911G= (p.Val637=) c.372+3153G= (n.372+3153G=) | |
| 5 | g.149981504G>T | CA447402928 | SLC26A2 | c.1911G>T (p.Val637=) c.372+3153G>T (n.372+3153G>T) | gnomAD v4 |
| 5 | g.149981505C>A | CA361709342 | SLC26A2 | c.1912C>A (p.Gln638Lys) c.372+3154C>A (n.372+3154C>A) | |
| 5 | g.149981505C= | CA1590738807 | SLC26A2 | c.1912C= (p.Gln638=) c.372+3154C= (n.372+3154C=) | |
| 5 | g.149981505C>G | CA361709340 | SLC26A2 | c.1912C>G (p.Gln638Glu) c.372+3154C>G (n.372+3154C>G) | |
| 5 | g.149981505C>T | CA361709339 | SLC26A2 | c.1912C>T (p.Gln638Ter) c.372+3154C>T (n.372+3154C>T) | dbSNP |
| 5 | g.149981506A>C | CA361709344 | SLC26A2 | c.1913A>C (p.Gln638Pro) c.372+3155A>C (n.372+3155A>C) | |
| 5 | g.149981506A>G | CA361709346 | SLC26A2 | c.1913A>G (p.Gln638Arg) c.372+3155A>G (n.372+3155A>G) | |
| 5 | g.149981506A>T | CA361709348 | SLC26A2 | c.1913A>T (p.Gln638Leu) c.372+3155A>T (n.372+3155A>T) | |
| 5 | g.149981507A>C | CA361709350 | SLC26A2 | c.1914A>C (p.Gln638His) c.372+3156A>C (n.372+3156A>C) | |
| 5 | g.149981507A>G | CA447402930 | SLC26A2 | c.1914A>G (p.Gln638=) c.372+3156A>G (n.372+3156A>G) | gnomAD v4 |
| 5 | g.149981507A>T | CA361709352 | SLC26A2 | c.1914A>T (p.Gln638His) c.372+3156A>T (n.372+3156A>T) | |
| 5 | g.149981508C>A | CA361709354 | SLC26A2 | c.1915C>A (p.Leu639Ile) c.372+3157C>A (n.372+3157C>A) | gnomAD v4 |
| 5 | g.149981508C>G | CA361709356 | SLC26A2 | c.1915C>G (p.Leu639Val) c.372+3157C>G (n.372+3157C>G) | |
| 5 | g.149981508C>T | CA361709358 | SLC26A2 | c.1915C>T (p.Leu639Phe) c.372+3157C>T (n.372+3157C>T) | |
| 5 | g.149981509T>A | CA361709359 | SLC26A2 | c.1916T>A (p.Leu639His) c.372+3158T>A (n.372+3158T>A) | |
| 5 | g.149981509T>C | CA361709361 | SLC26A2 | c.1916T>C (p.Leu639Pro) c.372+3158T>C (n.372+3158T>C) | |
| 5 | g.149981509T>G | CA361709363 | SLC26A2 | c.1916T>G (p.Leu639Arg) c.372+3158T>G (n.372+3158T>G) | |
| 5 | g.149981510T>A | CA447402933 | SLC26A2 | c.1917T>A (p.Leu639=) c.372+3159T>A (n.372+3159T>A) | |
| 5 | g.149981510T>C | CA447402931 | SLC26A2 | c.1917T>C (p.Leu639=) c.372+3159T>C (n.372+3159T>C) | |
| 5 | g.149981510T>G | CA447402932 | SLC26A2 | c.1917T>G (p.Leu639=) c.372+3159T>G (n.372+3159T>G) | |
| 5 | g.149981511T>A | CA361709367 | SLC26A2 | c.1918T>A (p.Ser640Thr) c.372+3160T>A (n.372+3160T>A) | |
| 5 | g.149981511T>C | CA361709369 | SLC26A2 | c.1918T>C (p.Ser640Pro) c.372+3160T>C (n.372+3160T>C) | |
| 5 | g.149981511T>G | CA361709365 | SLC26A2 | c.1918T>G (p.Ser640Ala) c.372+3160T>G (n.372+3160T>G) | |
| 5 | g.149981512C>A | CA361709372 | SLC26A2 | c.1919C>A (p.Ser640Tyr) c.372+3161C>A (n.372+3161C>A) | |
| 5 | g.149981512C>G | CA361709374 | SLC26A2 | c.1919C>G (p.Ser640Cys) c.372+3161C>G (n.372+3161C>G) | |
| 5 | g.149981512C>T | CA361709376 | SLC26A2 | c.1919C>T (p.Ser640Phe) c.372+3161C>T (n.372+3161C>T) | COSMIC |