Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351766T>ACA369653774CLCN1c.2768T>A (p.Ile923Asn)
n.2708T>A
c.2792T>A (p.Ile931Asn)
c.1514T>A (p.Ile505Asn)
c.2342T>A (p.Ile781Asn)
c.2318T>A (p.Ile773Asn)
n.2723T>A
7g.143351766T>CCA369653773CLCN1c.2768T>C (p.Ile923Thr)
n.2708T>C
c.2792T>C (p.Ile931Thr)
c.1514T>C (p.Ile505Thr)
c.2342T>C (p.Ile781Thr)
c.2318T>C (p.Ile773Thr)
n.2723T>C
 gnomAD v4
7g.143351766T>GCA369653772CLCN1c.2768T>G (p.Ile923Ser)
n.2708T>G
c.2792T>G (p.Ile931Ser)
c.1514T>G (p.Ile505Ser)
c.2342T>G (p.Ile781Ser)
c.2318T>G (p.Ile773Ser)
n.2723T>G
7g.143351767delCA2778231040CLCN1c.2769del (p.Ile923MetfsTer25)
n.2709del
c.2793del (p.Ile931MetfsTer25)
c.1515del (p.Ile505MetfsTer25)
c.2343del (p.Ile781MetfsTer25)
c.2319del (p.Ile773MetfsTer25)
n.2724del
7g.143351767T>ACA458542578CLCN1c.2769T>A (p.Ile923=)
n.2709T>A
c.2793T>A (p.Ile931=)
c.1515T>A (p.Ile505=)
c.2343T>A (p.Ile781=)
c.2319T>A (p.Ile773=)
n.2724T>A
7g.143351767T>CCA4537782CLCN1c.2769T>C (p.Ile923=)
n.2709T>C
c.2793T>C (p.Ile931=)
c.1515T>C (p.Ile505=)
c.2343T>C (p.Ile781=)
c.2319T>C (p.Ile773=)
n.2724T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351767T>GCA369653775CLCN1c.2769T>G (p.Ile923Met)
n.2709T>G
c.2793T>G (p.Ile931Met)
c.1515T>G (p.Ile505Met)
c.2343T>G (p.Ile781Met)
c.2319T>G (p.Ile773Met)
n.2724T>G
7g.143351767T=CA1748898319CLCN1c.2769T= (p.Ile923=)
n.2709T=
c.2793T= (p.Ile931=)
c.1515T= (p.Ile505=)
c.2343T= (p.Ile781=)
c.2319T= (p.Ile773=)
n.2724T=
7g.143351768G>ACA369653776CLCN1c.2770G>A (p.Ala924Thr)
n.2710G>A
c.2794G>A (p.Ala932Thr)
c.1516G>A (p.Ala506Thr)
c.2344G>A (p.Ala782Thr)
c.2320G>A (p.Ala774Thr)
n.2725G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351768G>CCA369653777CLCN1c.2770G>C (p.Ala924Pro)
n.2710G>C
c.2794G>C (p.Ala932Pro)
c.1516G>C (p.Ala506Pro)
c.2344G>C (p.Ala782Pro)
c.2320G>C (p.Ala774Pro)
n.2725G>C
7g.143351768G=CA1748898320CLCN1c.2770G= (p.Ala924=)
n.2710G=
c.2794G= (p.Ala932=)
c.1516G= (p.Ala506=)
c.2344G= (p.Ala782=)
c.2320G= (p.Ala774=)
n.2725G=
7g.143351768G>TCA369653778CLCN1c.2770G>T (p.Ala924Ser)
n.2710G>T
c.2794G>T (p.Ala932Ser)
c.1516G>T (p.Ala506Ser)
c.2344G>T (p.Ala782Ser)
c.2320G>T (p.Ala774Ser)
n.2725G>T
7g.143351769C>ACA369653779CLCN1c.2771C>A (p.Ala924Asp)
n.2711C>A
c.2795C>A (p.Ala932Asp)
c.1517C>A (p.Ala506Asp)
c.2345C>A (p.Ala782Asp)
c.2321C>A (p.Ala774Asp)
n.2726C>A
7g.143351769C>GCA369653780CLCN1c.2771C>G (p.Ala924Gly)
n.2711C>G
c.2795C>G (p.Ala932Gly)
c.1517C>G (p.Ala506Gly)
c.2345C>G (p.Ala782Gly)
c.2321C>G (p.Ala774Gly)
n.2726C>G
7g.143351769C>TCA369653781CLCN1c.2771C>T (p.Ala924Val)
n.2711C>T
c.2795C>T (p.Ala932Val)
c.1517C>T (p.Ala506Val)
c.2345C>T (p.Ala782Val)
c.2321C>T (p.Ala774Val)
n.2726C>T
7g.143351770T>ACA4537783CLCN1c.2772T>A (p.Ala924=)
n.2712T>A
c.2796T>A (p.Ala932=)
c.1518T>A (p.Ala506=)
c.2346T>A (p.Ala782=)
c.2322T>A (p.Ala774=)
n.2727T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351770T>CCA458542585CLCN1c.2772T>C (p.Ala924=)
n.2712T>C
c.2796T>C (p.Ala932=)
c.1518T>C (p.Ala506=)
c.2346T>C (p.Ala782=)
c.2322T>C (p.Ala774=)
n.2727T>C
7g.143351770T>GCA458542587CLCN1c.2772T>G (p.Ala924=)
n.2712T>G
c.2796T>G (p.Ala932=)
c.1518T>G (p.Ala506=)
c.2346T>G (p.Ala782=)
c.2322T>G (p.Ala774=)
n.2727T>G
7g.143351770T=CA1748898321CLCN1c.2772T= (p.Ala924=)
n.2712T=
c.2796T= (p.Ala932=)
c.1518T= (p.Ala506=)
c.2346T= (p.Ala782=)
c.2322T= (p.Ala774=)
n.2727T=
7g.143351771G>ACA369653782CLCN1c.2773G>A (p.Ala925Thr)
n.2713G>A
c.2797G>A (p.Ala933Thr)
c.1519G>A (p.Ala507Thr)
c.2347G>A (p.Ala783Thr)
c.2323G>A (p.Ala775Thr)
n.2728G>A
7g.143351771G>CCA369653783CLCN1c.2773G>C (p.Ala925Pro)
n.2713G>C
c.2797G>C (p.Ala933Pro)
c.1519G>C (p.Ala507Pro)
c.2347G>C (p.Ala783Pro)
c.2323G>C (p.Ala775Pro)
n.2728G>C
7g.143351771G>TCA369653784CLCN1c.2773G>T (p.Ala925Ser)
n.2713G>T
c.2797G>T (p.Ala933Ser)
c.1519G>T (p.Ala507Ser)
c.2347G>T (p.Ala783Ser)
c.2323G>T (p.Ala775Ser)
n.2728G>T
7g.143351772C>ACA369653787CLCN1c.2774C>A (p.Ala925Asp)
n.2714C>A
c.2798C>A (p.Ala933Asp)
c.1520C>A (p.Ala507Asp)
c.2348C>A (p.Ala783Asp)
c.2324C>A (p.Ala775Asp)
n.2729C>A
7g.143351772C>GCA369653786CLCN1c.2774C>G (p.Ala925Gly)
n.2714C>G
c.2798C>G (p.Ala933Gly)
c.1520C>G (p.Ala507Gly)
c.2348C>G (p.Ala783Gly)
c.2324C>G (p.Ala775Gly)
n.2729C>G
7g.143351772C>TCA369653785CLCN1c.2774C>T (p.Ala925Val)
n.2714C>T
c.2798C>T (p.Ala933Val)
c.1520C>T (p.Ala507Val)
c.2348C>T (p.Ala783Val)
c.2324C>T (p.Ala775Val)
n.2729C>T
7g.143351773C>ACA458542593CLCN1c.2775C>A (p.Ala925=)
n.2715C>A
c.2799C>A (p.Ala933=)
c.1521C>A (p.Ala507=)
c.2349C>A (p.Ala783=)
c.2325C>A (p.Ala775=)
n.2730C>A
7g.143351773C=CA1748898322CLCN1c.2775C= (p.Ala925=)
n.2715C=
c.2799C= (p.Ala933=)
c.1521C= (p.Ala507=)
c.2349C= (p.Ala783=)
c.2325C= (p.Ala775=)
n.2730C=
7g.143351773C>GCA458542591CLCN1c.2775C>G (p.Ala925=)
n.2715C>G
c.2799C>G (p.Ala933=)
c.1521C>G (p.Ala507=)
c.2349C>G (p.Ala783=)
c.2325C>G (p.Ala775=)
n.2730C>G
7g.143351773C>TCA458542592CLCN1c.2775C>T (p.Ala925=)
n.2715C>T
c.2799C>T (p.Ala933=)
c.1521C>T (p.Ala507=)
c.2349C>T (p.Ala783=)
c.2325C>T (p.Ala775=)
n.2730C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351774T>ACA369653790CLCN1c.2776T>A (p.Ser926Thr)
n.2716T>A
c.2800T>A (p.Ser934Thr)
c.1522T>A (p.Ser508Thr)
c.2350T>A (p.Ser784Thr)
c.2326T>A (p.Ser776Thr)
n.2731T>A
7g.143351774T>CCA369653788CLCN1c.2776T>C (p.Ser926Pro)
n.2716T>C
c.2800T>C (p.Ser934Pro)
c.1522T>C (p.Ser508Pro)
c.2350T>C (p.Ser784Pro)
c.2326T>C (p.Ser776Pro)
n.2731T>C
7g.143351774T>GCA369653789CLCN1c.2776T>G (p.Ser926Ala)
n.2716T>G
c.2800T>G (p.Ser934Ala)
c.1522T>G (p.Ser508Ala)
c.2350T>G (p.Ser784Ala)
c.2326T>G (p.Ser776Ala)
n.2731T>G
7g.143351774T=CA1748898323CLCN1c.2776T= (p.Ser926=)
n.2716T=
c.2800T= (p.Ser934=)
c.1522T= (p.Ser508=)
c.2350T= (p.Ser784=)
c.2326T= (p.Ser776=)
n.2731T=
7g.143351775C>ACA369653791CLCN1c.2777C>A (p.Ser926Tyr)
n.2717C>A
c.2801C>A (p.Ser934Tyr)
c.1523C>A (p.Ser508Tyr)
c.2351C>A (p.Ser784Tyr)
c.2327C>A (p.Ser776Tyr)
n.2732C>A
7g.143351775C>GCA369653792CLCN1c.2777C>G (p.Ser926Cys)
n.2717C>G
c.2801C>G (p.Ser934Cys)
c.1523C>G (p.Ser508Cys)
c.2351C>G (p.Ser784Cys)
c.2327C>G (p.Ser776Cys)
n.2732C>G
7g.143351775C>TCA369653793CLCN1c.2777C>T (p.Ser926Phe)
n.2717C>T
c.2801C>T (p.Ser934Phe)
c.1523C>T (p.Ser508Phe)
c.2351C>T (p.Ser784Phe)
c.2327C>T (p.Ser776Phe)
n.2732C>T
7g.143351778dupCA1748898324CLCN1c.2780dup (p.Glu928ArgfsTer?)
n.2720dup
c.2804dup (p.Glu936ArgfsTer?)
c.1526dup (p.Glu510ArgfsTer?)
c.2354dup (p.Glu786ArgfsTer?)
c.2330dup (p.Glu778ArgfsTer?)
n.2735dup
 dbSNP
7g.143351776C>ACA458542596CLCN1c.2778C>A (p.Ser926=)
n.2718C>A
c.2802C>A (p.Ser934=)
c.1524C>A (p.Ser508=)
c.2352C>A (p.Ser784=)
c.2328C>A (p.Ser776=)
n.2733C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351776C=CA1748898325CLCN1c.2778C= (p.Ser926=)
n.2718C=
c.2802C= (p.Ser934=)
c.1524C= (p.Ser508=)
c.2352C= (p.Ser784=)
c.2328C= (p.Ser776=)
n.2733C=
7g.143351776C>GCA458542598CLCN1c.2778C>G (p.Ser926=)
n.2718C>G
c.2802C>G (p.Ser934=)
c.1524C>G (p.Ser508=)
c.2352C>G (p.Ser784=)
c.2328C>G (p.Ser776=)
n.2733C>G
7g.143351776C>TCA458542600CLCN1c.2778C>T (p.Ser926=)
n.2718C>T
c.2802C>T (p.Ser934=)
c.1524C>T (p.Ser508=)
c.2352C>T (p.Ser784=)
c.2328C>T (p.Ser776=)
n.2733C>T
 ClinVar gnomAD v4
7g.143351777C>ACA369653796CLCN1c.2779C>A (p.Pro927Thr)
n.2719C>A
c.2803C>A (p.Pro935Thr)
c.1525C>A (p.Pro509Thr)
c.2353C>A (p.Pro785Thr)
c.2329C>A (p.Pro777Thr)
n.2734C>A
7g.143351777C>GCA369653795CLCN1c.2779C>G (p.Pro927Ala)
n.2719C>G
c.2803C>G (p.Pro935Ala)
c.1525C>G (p.Pro509Ala)
c.2353C>G (p.Pro785Ala)
c.2329C>G (p.Pro777Ala)
n.2734C>G
 gnomAD v4
7g.143351777C>TCA369653794CLCN1c.2779C>T (p.Pro927Ser)
n.2719C>T
c.2803C>T (p.Pro935Ser)
c.1525C>T (p.Pro509Ser)
c.2353C>T (p.Pro785Ser)
c.2329C>T (p.Pro777Ser)
n.2734C>T
7g.143351778C>ACA369653797CLCN1c.2780C>A (p.Pro927Gln)
n.2720C>A
c.2804C>A (p.Pro935Gln)
c.1526C>A (p.Pro509Gln)
c.2354C>A (p.Pro785Gln)
c.2330C>A (p.Pro777Gln)
n.2735C>A
7g.143351778C=CA1748898326CLCN1c.2780C= (p.Pro927=)
n.2720C=
c.2804C= (p.Pro935=)
c.1526C= (p.Pro509=)
c.2354C= (p.Pro785=)
c.2330C= (p.Pro777=)
n.2735C=
7g.143351778C>GCA369653798CLCN1c.2780C>G (p.Pro927Arg)
n.2720C>G
c.2804C>G (p.Pro935Arg)
c.1526C>G (p.Pro509Arg)
c.2354C>G (p.Pro785Arg)
c.2330C>G (p.Pro777Arg)
n.2735C>G
7g.143351778C>TCA369653799CLCN1c.2780C>T (p.Pro927Leu)
n.2720C>T
c.2804C>T (p.Pro935Leu)
c.1526C>T (p.Pro509Leu)
c.2354C>T (p.Pro785Leu)
c.2330C>T (p.Pro777Leu)
n.2735C>T
 dbSNP
7g.143351779A>CCA458542604CLCN1c.2781A>C (p.Pro927=)
n.2721A>C
c.2805A>C (p.Pro935=)
c.1527A>C (p.Pro509=)
c.2355A>C (p.Pro785=)
c.2331A>C (p.Pro777=)
n.2736A>C
7g.143351779A>GCA458542605CLCN1c.2781A>G (p.Pro927=)
n.2721A>G
c.2805A>G (p.Pro935=)
c.1527A>G (p.Pro509=)
c.2355A>G (p.Pro785=)
c.2331A>G (p.Pro777=)
n.2736A>G
7g.143351779A>TCA458542606CLCN1c.2781A>T (p.Pro927=)
n.2721A>T
c.2805A>T (p.Pro935=)
c.1527A>T (p.Pro509=)
c.2355A>T (p.Pro785=)
c.2331A>T (p.Pro777=)
n.2736A>T
7g.143351782_143351783delCA2740094943CLCN1c.2784_2785del (p.Glu928AspfsTer?)
n.2724_2725del
c.2808_2809del (p.Glu936AspfsTer?)
c.1530_1531del (p.Glu510AspfsTer?)
c.2358_2359del (p.Glu786AspfsTer?)
c.2334_2335del (p.Glu778AspfsTer?)
n.2739_2740del
 ClinVar
7g.143351780G>ACA369653800CLCN1c.2782G>A (p.Glu928Lys)
n.2722G>A
c.2806G>A (p.Glu936Lys)
c.1528G>A (p.Glu510Lys)
c.2356G>A (p.Glu786Lys)
c.2332G>A (p.Glu778Lys)
n.2737G>A
 ClinVar dbSNP gnomAD v4
7g.143351780G>CCA369653801CLCN1c.2782G>C (p.Glu928Gln)
n.2722G>C
c.2806G>C (p.Glu936Gln)
c.1528G>C (p.Glu510Gln)
c.2356G>C (p.Glu786Gln)
c.2332G>C (p.Glu778Gln)
n.2737G>C
7g.143351780G=CA1748898327CLCN1c.2782G= (p.Glu928=)
n.2722G=
c.2806G= (p.Glu936=)
c.1528G= (p.Glu510=)
c.2356G= (p.Glu786=)
c.2332G= (p.Glu778=)
n.2737G=
7g.143351780G>TCA369653802CLCN1c.2782G>T (p.Glu928Ter)
n.2722G>T
c.2806G>T (p.Glu936Ter)
c.1528G>T (p.Glu510Ter)
c.2356G>T (p.Glu786Ter)
c.2332G>T (p.Glu778Ter)
n.2737G>T
7g.143351781A>CCA369653803CLCN1c.2783A>C (p.Glu928Ala)
n.2723A>C
c.2807A>C (p.Glu936Ala)
c.1529A>C (p.Glu510Ala)
c.2357A>C (p.Glu786Ala)
c.2333A>C (p.Glu778Ala)
n.2738A>C
7g.143351781A>GCA369653805CLCN1c.2783A>G (p.Glu928Gly)
n.2723A>G
c.2807A>G (p.Glu936Gly)
c.1529A>G (p.Glu510Gly)
c.2357A>G (p.Glu786Gly)
c.2333A>G (p.Glu778Gly)
n.2738A>G
7g.143351781A>TCA369653804CLCN1c.2783A>T (p.Glu928Val)
n.2723A>T
c.2807A>T (p.Glu936Val)
c.1529A>T (p.Glu510Val)
c.2357A>T (p.Glu786Val)
c.2333A>T (p.Glu778Val)
n.2738A>T
7g.143351782G>ACA458542610CLCN1c.2784G>A (p.Glu928=)
n.2724G>A
c.2808G>A (p.Glu936=)
c.1530G>A (p.Glu510=)
c.2358G>A (p.Glu786=)
c.2334G>A (p.Glu778=)
n.2739G>A
 dbSNP
7g.143351782G>CCA369653806CLCN1c.2784G>C (p.Glu928Asp)
n.2724G>C
c.2808G>C (p.Glu936Asp)
c.1530G>C (p.Glu510Asp)
c.2358G>C (p.Glu786Asp)
c.2334G>C (p.Glu778Asp)
n.2739G>C
7g.143351782G=CA1748898328CLCN1c.2784G= (p.Glu928=)
n.2724G=
c.2808G= (p.Glu936=)
c.1530G= (p.Glu510=)
c.2358G= (p.Glu786=)
c.2334G= (p.Glu778=)
n.2739G=
7g.143351782G>TCA369653807CLCN1c.2784G>T (p.Glu928Asp)
n.2724G>T
c.2808G>T (p.Glu936Asp)
c.1530G>T (p.Glu510Asp)
c.2358G>T (p.Glu786Asp)
c.2334G>T (p.Glu778Asp)
n.2739G>T
 COSMIC
7g.143351783A=CA1748898329CLCN1c.2785A= (p.Thr929=)
n.2725A=
c.2809A= (p.Thr937=)
c.1531A= (p.Thr511=)
c.2359A= (p.Thr787=)
c.2335A= (p.Thr779=)
n.2740A=
7g.143351783A>CCA369653808CLCN1c.2785A>C (p.Thr929Pro)
n.2725A>C
c.2809A>C (p.Thr937Pro)
c.1531A>C (p.Thr511Pro)
c.2359A>C (p.Thr787Pro)
c.2335A>C (p.Thr779Pro)
n.2740A>C
7g.143351783A>GCA369653809CLCN1c.2785A>G (p.Thr929Ala)
n.2725A>G
c.2809A>G (p.Thr937Ala)
c.1531A>G (p.Thr511Ala)
c.2359A>G (p.Thr787Ala)
c.2335A>G (p.Thr779Ala)
n.2740A>G
7g.143351783A>TCA4537785CLCN1c.2785A>T (p.Thr929Ser)
n.2725A>T
c.2809A>T (p.Thr937Ser)
c.1531A>T (p.Thr511Ser)
c.2359A>T (p.Thr787Ser)
c.2335A>T (p.Thr779Ser)
n.2740A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351783_143351784delinsACCA1748898330CLCN1c.2785_2786delinsAC (p.Thr929=)
n.2725_2726delinsAC
c.2809_2810delinsAC (p.Thr937=)
c.1531_1532delinsAC (p.Thr511=)
c.2359_2360delinsAC (p.Thr787=)
c.2335_2336delinsAC (p.Thr779=)
n.2740_2741delinsAC
7g.143351784C>ACA369653810CLCN1c.2786C>A (p.Thr929Asn)
n.2726C>A
c.2810C>A (p.Thr937Asn)
c.1532C>A (p.Thr511Asn)
c.2360C>A (p.Thr787Asn)
c.2336C>A (p.Thr779Asn)
n.2741C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351784C=CA1748898331CLCN1c.2786C= (p.Thr929=)
n.2726C=
c.2810C= (p.Thr937=)
c.1532C= (p.Thr511=)
c.2360C= (p.Thr787=)
c.2336C= (p.Thr779=)
n.2741C=
7g.143351784C>GCA369653811CLCN1c.2786C>G (p.Thr929Ser)
n.2726C>G
c.2810C>G (p.Thr937Ser)
c.1532C>G (p.Thr511Ser)
c.2360C>G (p.Thr787Ser)
c.2336C>G (p.Thr779Ser)
n.2741C>G
7g.143351784C>TCA4537786CLCN1c.2786C>T (p.Thr929Ile)
n.2726C>T
c.2810C>T (p.Thr937Ile)
c.1532C>T (p.Thr511Ile)
c.2360C>T (p.Thr787Ile)
c.2336C>T (p.Thr779Ile)
n.2741C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351787delCA4537784CLCN1c.2789del (p.Pro930LeufsTer18)
n.2729del
c.2813del (p.Pro938LeufsTer18)
c.1535del (p.Pro512LeufsTer18)
c.2363del (p.Pro788LeufsTer18)
c.2339del (p.Pro780LeufsTer18)
n.2744del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351785C>ACA458542617CLCN1c.2787C>A (p.Thr929=)
n.2727C>A
c.2811C>A (p.Thr937=)
c.1533C>A (p.Thr511=)
c.2361C>A (p.Thr787=)
c.2337C>A (p.Thr779=)
n.2742C>A
7g.143351785C=CA1748898332CLCN1c.2787C= (p.Thr929=)
n.2727C=
c.2811C= (p.Thr937=)
c.1533C= (p.Thr511=)
c.2361C= (p.Thr787=)
c.2337C= (p.Thr779=)
n.2742C=
7g.143351785C>GCA458542618CLCN1c.2787C>G (p.Thr929=)
n.2727C>G
c.2811C>G (p.Thr937=)
c.1533C>G (p.Thr511=)
c.2361C>G (p.Thr787=)
c.2337C>G (p.Thr779=)
n.2742C>G
 gnomAD v4
7g.143351785C>TCA458542620CLCN1c.2787C>T (p.Thr929=)
n.2727C>T
c.2811C>T (p.Thr937=)
c.1533C>T (p.Thr511=)
c.2361C>T (p.Thr787=)
c.2337C>T (p.Thr779=)
n.2742C>T
 dbSNP gnomAD v4
7g.143351786C>ACA369653812CLCN1c.2788C>A (p.Pro930Thr)
n.2728C>A
c.2812C>A (p.Pro938Thr)
c.1534C>A (p.Pro512Thr)
c.2362C>A (p.Pro788Thr)
c.2338C>A (p.Pro780Thr)
n.2743C>A
7g.143351786C>GCA369653813CLCN1c.2788C>G (p.Pro930Ala)
n.2728C>G
c.2812C>G (p.Pro938Ala)
c.1534C>G (p.Pro512Ala)
c.2362C>G (p.Pro788Ala)
c.2338C>G (p.Pro780Ala)
n.2743C>G
7g.143351786C>TCA369653814CLCN1c.2788C>T (p.Pro930Ser)
n.2728C>T
c.2812C>T (p.Pro938Ser)
c.1534C>T (p.Pro512Ser)
c.2362C>T (p.Pro788Ser)
c.2338C>T (p.Pro780Ser)
n.2743C>T
7g.143351787C>ACA4537787CLCN1c.2789C>A (p.Pro930His)
n.2729C>A
c.2813C>A (p.Pro938His)
c.1535C>A (p.Pro512His)
c.2363C>A (p.Pro788His)
c.2339C>A (p.Pro780His)
n.2744C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351787C=CA1748898333CLCN1c.2789C= (p.Pro930=)
n.2729C=
c.2813C= (p.Pro938=)
c.1535C= (p.Pro512=)
c.2363C= (p.Pro788=)
c.2339C= (p.Pro780=)
n.2744C=
7g.143351787C>GCA369653816CLCN1c.2789C>G (p.Pro930Arg)
n.2729C>G
c.2813C>G (p.Pro938Arg)
c.1535C>G (p.Pro512Arg)
c.2363C>G (p.Pro788Arg)
c.2339C>G (p.Pro780Arg)
n.2744C>G
7g.143351787C>TCA369653815CLCN1c.2789C>T (p.Pro930Leu)
n.2729C>T
c.2813C>T (p.Pro938Leu)
c.1535C>T (p.Pro512Leu)
c.2363C>T (p.Pro788Leu)
c.2339C>T (p.Pro780Leu)
n.2744C>T
7g.143351788T>ACA458542630CLCN1c.2790T>A (p.Pro930=)
n.2730T>A
c.2814T>A (p.Pro938=)
c.1536T>A (p.Pro512=)
c.2364T>A (p.Pro788=)
c.2340T>A (p.Pro780=)
n.2745T>A
7g.143351788T>CCA458542629CLCN1c.2790T>C (p.Pro930=)
n.2730T>C
c.2814T>C (p.Pro938=)
c.1536T>C (p.Pro512=)
c.2364T>C (p.Pro788=)
c.2340T>C (p.Pro780=)
n.2745T>C
7g.143351788T>GCA458542627CLCN1c.2790T>G (p.Pro930=)
n.2730T>G
c.2814T>G (p.Pro938=)
c.1536T>G (p.Pro512=)
c.2364T>G (p.Pro788=)
c.2340T>G (p.Pro780=)
n.2745T>G
7g.143351789G>ACA369653817CLCN1c.2791G>A (p.Val931Met)
n.2731G>A
c.2815G>A (p.Val939Met)
c.1537G>A (p.Val513Met)
c.2365G>A (p.Val789Met)
c.2341G>A (p.Val781Met)
n.2746G>A
 gnomAD v4
7g.143351789G>CCA369653819CLCN1c.2791G>C (p.Val931Leu)
n.2731G>C
c.2815G>C (p.Val939Leu)
c.1537G>C (p.Val513Leu)
c.2365G>C (p.Val789Leu)
c.2341G>C (p.Val781Leu)
n.2746G>C
7g.143351789G>TCA369653818CLCN1c.2791G>T (p.Val931Leu)
n.2731G>T
c.2815G>T (p.Val939Leu)
c.1537G>T (p.Val513Leu)
c.2365G>T (p.Val789Leu)
c.2341G>T (p.Val781Leu)
n.2746G>T
7g.143351790T>ACA369653820CLCN1c.2792T>A (p.Val931Glu)
n.2732T>A
c.2816T>A (p.Val939Glu)
c.1538T>A (p.Val513Glu)
c.2366T>A (p.Val789Glu)
c.2342T>A (p.Val781Glu)
n.2747T>A
7g.143351790T>CCA369653821CLCN1c.2792T>C (p.Val931Ala)
n.2732T>C
c.2816T>C (p.Val939Ala)
c.1538T>C (p.Val513Ala)
c.2366T>C (p.Val789Ala)
c.2342T>C (p.Val781Ala)
n.2747T>C
7g.143351790T>GCA369653822CLCN1c.2792T>G (p.Val931Gly)
n.2732T>G
c.2816T>G (p.Val939Gly)
c.1538T>G (p.Val513Gly)
c.2366T>G (p.Val789Gly)
c.2342T>G (p.Val781Gly)
n.2747T>G
7g.143351791G>ACA458542636CLCN1c.2793G>A (p.Val931=)
n.2733G>A
c.2817G>A (p.Val939=)
c.1539G>A (p.Val513=)
c.2367G>A (p.Val789=)
c.2343G>A (p.Val781=)
n.2748G>A
 gnomAD v4
7g.143351791G>CCA458542638CLCN1c.2793G>C (p.Val931=)
n.2733G>C
c.2817G>C (p.Val939=)
c.1539G>C (p.Val513=)
c.2367G>C (p.Val789=)
c.2343G>C (p.Val781=)
n.2748G>C
7g.143351791G>TCA458542639CLCN1c.2793G>T (p.Val931=)
n.2733G>T
c.2817G>T (p.Val939=)
c.1539G>T (p.Val513=)
c.2367G>T (p.Val789=)
c.2343G>T (p.Val781=)
n.2748G>T
7g.143351792C>ACA369653823CLCN1c.2794C>A (p.Pro932Thr)
n.2734C>A
c.2818C>A (p.Pro940Thr)
c.1540C>A (p.Pro514Thr)
c.2368C>A (p.Pro790Thr)
c.2344C>A (p.Pro782Thr)
n.2749C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351792C=CA1748898334CLCN1c.2794C= (p.Pro932=)
n.2734C=
c.2818C= (p.Pro940=)
c.1540C= (p.Pro514=)
c.2368C= (p.Pro790=)
c.2344C= (p.Pro782=)
n.2749C=
7g.143351792C>GCA369653824CLCN1c.2794C>G (p.Pro932Ala)
n.2734C>G
c.2818C>G (p.Pro940Ala)
c.1540C>G (p.Pro514Ala)
c.2368C>G (p.Pro790Ala)
c.2344C>G (p.Pro782Ala)
n.2749C>G
7g.143351792C>TCA4537788CLCN1c.2794C>T (p.Pro932Ser)
n.2734C>T
c.2818C>T (p.Pro940Ser)
c.1540C>T (p.Pro514Ser)
c.2368C>T (p.Pro790Ser)
c.2344C>T (p.Pro782Ser)
n.2749C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351793C>ACA369653825CLCN1c.2795C>A (p.Pro932Gln)
n.2735C>A
c.2819C>A (p.Pro940Gln)
c.1541C>A (p.Pro514Gln)
c.2369C>A (p.Pro790Gln)
c.2345C>A (p.Pro782Gln)
n.2750C>A
7g.143351793C=CA1748898335CLCN1c.2795C= (p.Pro932=)
n.2735C=
c.2819C= (p.Pro940=)
c.1541C= (p.Pro514=)
c.2369C= (p.Pro790=)
c.2345C= (p.Pro782=)
n.2750C=
7g.143351793C>GCA369653826CLCN1c.2795C>G (p.Pro932Arg)
n.2735C>G
c.2819C>G (p.Pro940Arg)
c.1541C>G (p.Pro514Arg)
c.2369C>G (p.Pro790Arg)
c.2345C>G (p.Pro782Arg)
n.2750C>G
7g.143351793C>TCA258014CLCN1c.2795C>T (p.Pro932Leu)
n.2735C>T
c.2819C>T (p.Pro940Leu)
c.1541C>T (p.Pro514Leu)
c.2369C>T (p.Pro790Leu)
c.2345C>T (p.Pro782Leu)
n.2750C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351794_143351795insCACCACCAAACACACCCAACACACA2778231041CLCN1c.2796_2797insCACCACCAAACACACCCAACACA (p.Ser933HisfsTer23)
n.2736_2737insCACCACCAAACACACCCAACACA
c.2820_2821insCACCACCAAACACACCCAACACA (p.Ser941HisfsTer23)
c.1542_1543insCACCACCAAACACACCCAACACA (p.Ser515HisfsTer23)
c.2370_2371insCACCACCAAACACACCCAACACA (p.Ser791HisfsTer23)
c.2346_2347insCACCACCAAACACACCCAACACA (p.Ser783HisfsTer23)
n.2751_2752insCACCACCAAACACACCCAACACA
7g.143351794A=CA1748898336CLCN1c.2796A= (p.Pro932=)
n.2736A=
c.2820A= (p.Pro940=)
c.1542A= (p.Pro514=)
c.2370A= (p.Pro790=)
c.2346A= (p.Pro782=)
n.2751A=
7g.143351794A>CCA168231632CLCN1c.2796A>C (p.Pro932=)
n.2736A>C
c.2820A>C (p.Pro940=)
c.1542A>C (p.Pro514=)
c.2370A>C (p.Pro790=)
c.2346A>C (p.Pro782=)
n.2751A>C
 ClinVar dbSNP
7g.143351794A>GCA458542336CLCN1c.2796A>G (p.Pro932=)
n.2736A>G
c.2820A>G (p.Pro940=)
c.1542A>G (p.Pro514=)
c.2370A>G (p.Pro790=)
c.2346A>G (p.Pro782=)
n.2751A>G
7g.143351794A>TCA458542337CLCN1c.2796A>T (p.Pro932=)
n.2736A>T
c.2820A>T (p.Pro940=)
c.1542A>T (p.Pro514=)
c.2370A>T (p.Pro790=)
c.2346A>T (p.Pro782=)
n.2751A>T
7g.143351795T>ACA369653827CLCN1c.2797T>A (p.Ser933Thr)
n.2737T>A
c.2821T>A (p.Ser941Thr)
c.1543T>A (p.Ser515Thr)
c.2371T>A (p.Ser791Thr)
c.2347T>A (p.Ser783Thr)
n.2752T>A
7g.143351795T>CCA369653828CLCN1c.2797T>C (p.Ser933Pro)
n.2737T>C
c.2821T>C (p.Ser941Pro)
c.1543T>C (p.Ser515Pro)
c.2371T>C (p.Ser791Pro)
c.2347T>C (p.Ser783Pro)
n.2752T>C
7g.143351795T>GCA369653829CLCN1c.2797T>G (p.Ser933Ala)
n.2737T>G
c.2821T>G (p.Ser941Ala)
c.1543T>G (p.Ser515Ala)
c.2371T>G (p.Ser791Ala)
c.2347T>G (p.Ser783Ala)
n.2752T>G
7g.143351796C>ACA369653830CLCN1c.2798C>A (p.Ser933Tyr)
n.2738C>A
c.2822C>A (p.Ser941Tyr)
c.1544C>A (p.Ser515Tyr)
c.2372C>A (p.Ser791Tyr)
c.2348C>A (p.Ser783Tyr)
n.2753C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351796C=CA1748898337CLCN1c.2798C= (p.Ser933=)
n.2738C=
c.2822C= (p.Ser941=)
c.1544C= (p.Ser515=)
c.2372C= (p.Ser791=)
c.2348C= (p.Ser783=)
n.2753C=
7g.143351796C>GCA369653832CLCN1c.2798C>G (p.Ser933Cys)
n.2738C>G
c.2822C>G (p.Ser941Cys)
c.1544C>G (p.Ser515Cys)
c.2372C>G (p.Ser791Cys)
c.2348C>G (p.Ser783Cys)
n.2753C>G
 gnomAD v4
7g.143351796C>TCA369653831CLCN1c.2798C>T (p.Ser933Phe)
n.2738C>T
c.2822C>T (p.Ser941Phe)
c.1544C>T (p.Ser515Phe)
c.2372C>T (p.Ser791Phe)
c.2348C>T (p.Ser783Phe)
n.2753C>T
 gnomAD v4
7g.143351797T>ACA458542339CLCN1c.2799T>A (p.Ser933=)
n.2739T>A
c.2823T>A (p.Ser941=)
c.1545T>A (p.Ser515=)
c.2373T>A (p.Ser791=)
c.2349T>A (p.Ser783=)
n.2754T>A
7g.143351797T>CCA458542340CLCN1c.2799T>C (p.Ser933=)
n.2739T>C
c.2823T>C (p.Ser941=)
c.1545T>C (p.Ser515=)
c.2373T>C (p.Ser791=)
c.2349T>C (p.Ser783=)
n.2754T>C
7g.143351797T>GCA458542341CLCN1c.2799T>G (p.Ser933=)
n.2739T>G
c.2823T>G (p.Ser941=)
c.1545T>G (p.Ser515=)
c.2373T>G (p.Ser791=)
c.2349T>G (p.Ser783=)
n.2754T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351797T=CA1748898338CLCN1c.2799T= (p.Ser933=)
n.2739T=
c.2823T= (p.Ser941=)
c.1545T= (p.Ser515=)
c.2373T= (p.Ser791=)
c.2349T= (p.Ser783=)
n.2754T=
7g.143351798C>ACA369653833CLCN1c.2800C>A (p.Pro934Thr)
n.2740C>A
c.2824C>A (p.Pro942Thr)
c.1546C>A (p.Pro516Thr)
c.2374C>A (p.Pro792Thr)
c.2350C>A (p.Pro784Thr)
n.2755C>A
7g.143351798C=CA1748898339CLCN1c.2800C= (p.Pro934=)
n.2740C=
c.2824C= (p.Pro942=)
c.1546C= (p.Pro516=)
c.2374C= (p.Pro792=)
c.2350C= (p.Pro784=)
n.2755C=
7g.143351798C>GCA369653834CLCN1c.2800C>G (p.Pro934Ala)
n.2740C>G
c.2824C>G (p.Pro942Ala)
c.1546C>G (p.Pro516Ala)
c.2374C>G (p.Pro792Ala)
c.2350C>G (p.Pro784Ala)
n.2755C>G
7g.143351798C>TCA369653835CLCN1c.2800C>T (p.Pro934Ser)
n.2740C>T
c.2824C>T (p.Pro942Ser)
c.1546C>T (p.Pro516Ser)
c.2374C>T (p.Pro792Ser)
c.2350C>T (p.Pro784Ser)
n.2755C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351799C>ACA369653836CLCN1c.2801C>A (p.Pro934His)
n.2741C>A
c.2825C>A (p.Pro942His)
c.1547C>A (p.Pro516His)
c.2375C>A (p.Pro792His)
c.2351C>A (p.Pro784His)
n.2756C>A
7g.143351799C>GCA369653837CLCN1c.2801C>G (p.Pro934Arg)
n.2741C>G
c.2825C>G (p.Pro942Arg)
c.1547C>G (p.Pro516Arg)
c.2375C>G (p.Pro792Arg)
c.2351C>G (p.Pro784Arg)
n.2756C>G
7g.143351799C>TCA369653838CLCN1c.2801C>T (p.Pro934Leu)
n.2741C>T
c.2825C>T (p.Pro942Leu)
c.1547C>T (p.Pro516Leu)
c.2375C>T (p.Pro792Leu)
c.2351C>T (p.Pro784Leu)
n.2756C>T
7g.143351800T>ACA458542345CLCN1c.2802T>A (p.Pro934=)
n.2742T>A
c.2826T>A (p.Pro942=)
c.1548T>A (p.Pro516=)
c.2376T>A (p.Pro792=)
c.2352T>A (p.Pro784=)
n.2757T>A
7g.143351800T>CCA458542346CLCN1c.2802T>C (p.Pro934=)
n.2742T>C
c.2826T>C (p.Pro942=)
c.1548T>C (p.Pro516=)
c.2376T>C (p.Pro792=)
c.2352T>C (p.Pro784=)
n.2757T>C
7g.143351800T>GCA458542347CLCN1c.2802T>G (p.Pro934=)
n.2742T>G
c.2826T>G (p.Pro942=)
c.1548T>G (p.Pro516=)
c.2376T>G (p.Pro792=)
c.2352T>G (p.Pro784=)
n.2757T>G
 dbSNP
7g.143351801T>ACA369653839CLCN1c.2803T>A (p.Ser935Thr)
n.2743T>A
c.2827T>A (p.Ser943Thr)
c.1549T>A (p.Ser517Thr)
c.2377T>A (p.Ser793Thr)
c.2353T>A (p.Ser785Thr)
n.2758T>A
7g.143351801T>CCA369653840CLCN1c.2803T>C (p.Ser935Pro)
n.2743T>C
c.2827T>C (p.Ser943Pro)
c.1549T>C (p.Ser517Pro)
c.2377T>C (p.Ser793Pro)
c.2353T>C (p.Ser785Pro)
n.2758T>C
 ClinVar dbSNP
7g.143351801T>GCA369653841CLCN1c.2803T>G (p.Ser935Ala)
n.2743T>G
c.2827T>G (p.Ser943Ala)
c.1549T>G (p.Ser517Ala)
c.2377T>G (p.Ser793Ala)
c.2353T>G (p.Ser785Ala)
n.2758T>G
7g.143351801T=CA1748898340CLCN1c.2803T= (p.Ser935=)
n.2743T=
c.2827T= (p.Ser943=)
c.1549T= (p.Ser517=)
c.2377T= (p.Ser793=)
c.2353T= (p.Ser785=)
n.2758T=
7g.143351802C>ACA369653843CLCN1c.2804C>A (p.Ser935Tyr)
n.2744C>A
c.2828C>A (p.Ser943Tyr)
c.1550C>A (p.Ser517Tyr)
c.2378C>A (p.Ser793Tyr)
c.2354C>A (p.Ser785Tyr)
n.2759C>A
7g.143351802C>GCA369653844CLCN1c.2804C>G (p.Ser935Cys)
n.2744C>G
c.2828C>G (p.Ser943Cys)
c.1550C>G (p.Ser517Cys)
c.2378C>G (p.Ser793Cys)
c.2354C>G (p.Ser785Cys)
n.2759C>G
7g.143351802C>TCA369653842CLCN1c.2804C>T (p.Ser935Phe)
n.2744C>T
c.2828C>T (p.Ser943Phe)
c.1550C>T (p.Ser517Phe)
c.2378C>T (p.Ser793Phe)
c.2354C>T (p.Ser785Phe)
n.2759C>T
7g.143351803C>ACA458542353CLCN1c.2805C>A (p.Ser935=)
n.2745C>A
c.2829C>A (p.Ser943=)
c.1551C>A (p.Ser517=)
c.2379C>A (p.Ser793=)
c.2355C>A (p.Ser785=)
n.2760C>A
7g.143351803C>GCA458542352CLCN1c.2805C>G (p.Ser935=)
n.2745C>G
c.2829C>G (p.Ser943=)
c.1551C>G (p.Ser517=)
c.2379C>G (p.Ser793=)
c.2355C>G (p.Ser785=)
n.2760C>G
7g.143351803C>TCA458542351CLCN1c.2805C>T (p.Ser935=)
n.2745C>T
c.2829C>T (p.Ser943=)
c.1551C>T (p.Ser517=)
c.2379C>T (p.Ser793=)
c.2355C>T (p.Ser785=)
n.2760C>T
 ClinVar dbSNP COSMIC
7g.143351804C>ACA369653845CLCN1c.2806C>A (p.Pro936Thr)
n.2746C>A
c.2830C>A (p.Pro944Thr)
c.1552C>A (p.Pro518Thr)
c.2380C>A (p.Pro794Thr)
c.2356C>A (p.Pro786Thr)
n.2761C>A
 gnomAD v4
7g.143351804C>GCA369653846CLCN1c.2806C>G (p.Pro936Ala)
n.2746C>G
c.2830C>G (p.Pro944Ala)
c.1552C>G (p.Pro518Ala)
c.2380C>G (p.Pro794Ala)
c.2356C>G (p.Pro786Ala)
n.2761C>G
7g.143351804C>TCA369653847CLCN1c.2806C>T (p.Pro936Ser)
n.2746C>T
c.2830C>T (p.Pro944Ser)
c.1552C>T (p.Pro518Ser)
c.2380C>T (p.Pro794Ser)
c.2356C>T (p.Pro786Ser)
n.2761C>T
 dbSNP
7g.143351805C>ACA369653848CLCN1c.2807C>A (p.Pro936Gln)
n.2747C>A
c.2831C>A (p.Pro944Gln)
c.1553C>A (p.Pro518Gln)
c.2381C>A (p.Pro794Gln)
c.2357C>A (p.Pro786Gln)
n.2762C>A
7g.143351805C=CA1748898341CLCN1c.2807C= (p.Pro936=)
n.2747C=
c.2831C= (p.Pro944=)
c.1553C= (p.Pro518=)
c.2381C= (p.Pro794=)
c.2357C= (p.Pro786=)
n.2762C=
7g.143351805C>GCA369653849CLCN1c.2807C>G (p.Pro936Arg)
n.2747C>G
c.2831C>G (p.Pro944Arg)
c.1553C>G (p.Pro518Arg)
c.2381C>G (p.Pro794Arg)
c.2357C>G (p.Pro786Arg)
n.2762C>G
7g.143351805C>TCA4537789CLCN1c.2807C>T (p.Pro936Leu)
n.2747C>T
c.2831C>T (p.Pro944Leu)
c.1553C>T (p.Pro518Leu)
c.2381C>T (p.Pro794Leu)
c.2357C>T (p.Pro786Leu)
n.2762C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351806A>CCA458542357CLCN1c.2808A>C (p.Pro936=)
n.2748A>C
c.2832A>C (p.Pro944=)
c.1554A>C (p.Pro518=)
c.2382A>C (p.Pro794=)
c.2358A>C (p.Pro786=)
n.2763A>C
7g.143351806A>GCA458542358CLCN1c.2808A>G (p.Pro936=)
n.2748A>G
c.2832A>G (p.Pro944=)
c.1554A>G (p.Pro518=)
c.2382A>G (p.Pro794=)
c.2358A>G (p.Pro786=)
n.2763A>G
7g.143351806A>TCA458542359CLCN1c.2808A>T (p.Pro936=)
n.2748A>T
c.2832A>T (p.Pro944=)
c.1554A>T (p.Pro518=)
c.2382A>T (p.Pro794=)
c.2358A>T (p.Pro786=)
n.2763A>T
7g.143351807G>ACA369653852CLCN1c.2809G>A (p.Glu937Lys)
n.2749G>A
c.2833G>A (p.Glu945Lys)
c.1555G>A (p.Glu519Lys)
c.2383G>A (p.Glu795Lys)
c.2359G>A (p.Glu787Lys)
n.2764G>A
7g.143351807G>CCA369653850CLCN1c.2809G>C (p.Glu937Gln)
n.2749G>C
c.2833G>C (p.Glu945Gln)
c.1555G>C (p.Glu519Gln)
c.2383G>C (p.Glu795Gln)
c.2359G>C (p.Glu787Gln)
n.2764G>C
 gnomAD v4
7g.143351807G>TCA369653851CLCN1c.2809G>T (p.Glu937Ter)
n.2749G>T
c.2833G>T (p.Glu945Ter)
c.1555G>T (p.Glu519Ter)
c.2383G>T (p.Glu795Ter)
c.2359G>T (p.Glu787Ter)
n.2764G>T
7g.143351808A>CCA369653853CLCN1c.2810A>C (p.Glu937Ala)
n.2750A>C
c.2834A>C (p.Glu945Ala)
c.1556A>C (p.Glu519Ala)
c.2384A>C (p.Glu795Ala)
c.2360A>C (p.Glu787Ala)
n.2765A>C
7g.143351808A>GCA369653854CLCN1c.2810A>G (p.Glu937Gly)
n.2750A>G
c.2834A>G (p.Glu945Gly)
c.1556A>G (p.Glu519Gly)
c.2384A>G (p.Glu795Gly)
c.2360A>G (p.Glu787Gly)
n.2765A>G
7g.143351808A>TCA369653855CLCN1c.2810A>T (p.Glu937Val)
n.2750A>T
c.2834A>T (p.Glu945Val)
c.1556A>T (p.Glu519Val)
c.2384A>T (p.Glu795Val)
c.2360A>T (p.Glu787Val)
n.2765A>T
7g.143351809G>ACA458542367CLCN1c.2811G>A (p.Glu937=)
n.2751G>A
c.2835G>A (p.Glu945=)
c.1557G>A (p.Glu519=)
c.2385G>A (p.Glu795=)
c.2361G>A (p.Glu787=)
n.2766G>A
 gnomAD v4
7g.143351809G>CCA369653856CLCN1c.2811G>C (p.Glu937Asp)
n.2751G>C
c.2835G>C (p.Glu945Asp)
c.1557G>C (p.Glu519Asp)
c.2385G>C (p.Glu795Asp)
c.2361G>C (p.Glu787Asp)
n.2766G>C
 gnomAD v4
7g.143351809G>TCA369653857CLCN1c.2811G>T (p.Glu937Asp)
n.2751G>T
c.2835G>T (p.Glu945Asp)
c.1557G>T (p.Glu519Asp)
c.2385G>T (p.Glu795Asp)
c.2361G>T (p.Glu787Asp)
n.2766G>T
 ClinVar gnomAD v4
7g.143351809_143351810delinsGCCA1748898342CLCN1c.2811_2812delinsGC (p.Glu937=)
n.2751_2752delinsGC
c.2835_2836delinsGC (p.Glu945=)
c.1557_1558delinsGC (p.Glu519=)
c.2385_2386delinsGC (p.Glu795=)
c.2361_2362delinsGC (p.Glu787=)
n.2766_2767delinsGC
7g.143351810C>ACA369653858CLCN1c.2812C>A (p.Pro938Thr)
n.2752C>A
c.2836C>A (p.Pro946Thr)
c.1558C>A (p.Pro520Thr)
c.2386C>A (p.Pro796Thr)
c.2362C>A (p.Pro788Thr)
n.2767C>A
7g.143351810C=CA1748898343CLCN1c.2812C= (p.Pro938=)
n.2752C=
c.2836C= (p.Pro946=)
c.1558C= (p.Pro520=)
c.2386C= (p.Pro796=)
c.2362C= (p.Pro788=)
n.2767C=
7g.143351810C>GCA369653860CLCN1c.2812C>G (p.Pro938Ala)
n.2752C>G
c.2836C>G (p.Pro946Ala)
c.1558C>G (p.Pro520Ala)
c.2386C>G (p.Pro796Ala)
c.2362C>G (p.Pro788Ala)
n.2767C>G
 gnomAD v4
7g.143351810C>TCA369653859CLCN1c.2812C>T (p.Pro938Ser)
n.2752C>T
c.2836C>T (p.Pro946Ser)
c.1558C>T (p.Pro520Ser)
c.2386C>T (p.Pro796Ser)
c.2362C>T (p.Pro788Ser)
n.2767C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351814delCA458542368CLCN1c.2816del (p.Pro939LeufsTer9)
n.2756del
c.2840del (p.Pro947LeufsTer9)
c.1562del (p.Pro521LeufsTer9)
c.2390del (p.Pro797LeufsTer9)
c.2366del (p.Pro789LeufsTer9)
n.2771del
 dbSNP
7g.143351811C>ACA369653861CLCN1c.2813C>A (p.Pro938His)
n.2753C>A
c.2837C>A (p.Pro946His)
c.1559C>A (p.Pro520His)
c.2387C>A (p.Pro796His)
c.2363C>A (p.Pro788His)
n.2768C>A
7g.143351811C=CA1748898344CLCN1c.2813C= (p.Pro938=)
n.2753C=
c.2837C= (p.Pro946=)
c.1559C= (p.Pro520=)
c.2387C= (p.Pro796=)
c.2363C= (p.Pro788=)
n.2768C=
7g.143351811C>GCA369653862CLCN1c.2813C>G (p.Pro938Arg)
n.2753C>G
c.2837C>G (p.Pro946Arg)
c.1559C>G (p.Pro520Arg)
c.2387C>G (p.Pro796Arg)
c.2363C>G (p.Pro788Arg)
n.2768C>G
7g.143351811C>TCA4537790CLCN1c.2813C>T (p.Pro938Leu)
n.2753C>T
c.2837C>T (p.Pro946Leu)
c.1559C>T (p.Pro520Leu)
c.2387C>T (p.Pro796Leu)
c.2363C>T (p.Pro788Leu)
n.2768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351812C>ACA458542376CLCN1c.2814C>A (p.Pro938=)
n.2754C>A
c.2838C>A (p.Pro946=)
c.1560C>A (p.Pro520=)
c.2388C>A (p.Pro796=)
c.2364C>A (p.Pro788=)
n.2769C>A
7g.143351812C>GCA458542377CLCN1c.2814C>G (p.Pro938=)
n.2754C>G
c.2838C>G (p.Pro946=)
c.1560C>G (p.Pro520=)
c.2388C>G (p.Pro796=)
c.2364C>G (p.Pro788=)
n.2769C>G
7g.143351812C>TCA458542378CLCN1c.2814C>T (p.Pro938=)
n.2754C>T
c.2838C>T (p.Pro946=)
c.1560C>T (p.Pro520=)
c.2388C>T (p.Pro796=)
c.2364C>T (p.Pro788=)
n.2769C>T
 ClinVar gnomAD v4
7g.143351813C>ACA369653863CLCN1c.2815C>A (p.Pro939Thr)
n.2755C>A
c.2839C>A (p.Pro947Thr)
c.1561C>A (p.Pro521Thr)
c.2389C>A (p.Pro797Thr)
c.2365C>A (p.Pro789Thr)
n.2770C>A
7g.143351813C=CA1748898345CLCN1c.2815C= (p.Pro939=)
n.2755C=
c.2839C= (p.Pro947=)
c.1561C= (p.Pro521=)
c.2389C= (p.Pro797=)
c.2365C= (p.Pro789=)
n.2770C=
7g.143351813C>GCA4537791CLCN1c.2815C>G (p.Pro939Ala)
n.2755C>G
c.2839C>G (p.Pro947Ala)
c.1561C>G (p.Pro521Ala)
c.2389C>G (p.Pro797Ala)
c.2365C>G (p.Pro789Ala)
n.2770C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351813C>TCA369653864CLCN1c.2815C>T (p.Pro939Ser)
n.2755C>T
c.2839C>T (p.Pro947Ser)
c.1561C>T (p.Pro521Ser)
c.2389C>T (p.Pro797Ser)
c.2365C>T (p.Pro789Ser)
n.2770C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351813_143351815delinsCCTCA1748898346CLCN1c.2815_2817delinsCCT (p.Pro939=)
n.2755_2757delinsCCT
c.2839_2841delinsCCT (p.Pro947=)
c.1561_1563delinsCCT (p.Pro521=)
c.2389_2391delinsCCT (p.Pro797=)
c.2365_2367delinsCCT (p.Pro789=)
n.2770_2772delinsCCT
7g.143351814C>ACA369653865CLCN1c.2816C>A (p.Pro939His)
n.2756C>A
c.2840C>A (p.Pro947His)
c.1562C>A (p.Pro521His)
c.2390C>A (p.Pro797His)
c.2366C>A (p.Pro789His)
n.2771C>A
7g.143351814C=CA1748898347CLCN1c.2816C= (p.Pro939=)
n.2756C=
c.2840C= (p.Pro947=)
c.1562C= (p.Pro521=)
c.2390C= (p.Pro797=)
c.2366C= (p.Pro789=)
n.2771C=
7g.143351814C>GCA369653866CLCN1c.2816C>G (p.Pro939Arg)
n.2756C>G
c.2840C>G (p.Pro947Arg)
c.1562C>G (p.Pro521Arg)
c.2390C>G (p.Pro797Arg)
c.2366C>G (p.Pro789Arg)
n.2771C>G
 dbSNP
7g.143351814C>TCA369653867CLCN1c.2816C>T (p.Pro939Leu)
n.2756C>T
c.2840C>T (p.Pro947Leu)
c.1562C>T (p.Pro521Leu)
c.2390C>T (p.Pro797Leu)
c.2366C>T (p.Pro789Leu)
n.2771C>T
 COSMIC
7g.143351819_143351820delCA834502209CLCN1c.2821_2822del (p.Ser941ProfsTer?)
n.2761_2762del
c.2845_2846del (p.Ser949ProfsTer?)
c.1567_1568del (p.Ser523ProfsTer?)
c.2395_2396del (p.Ser799ProfsTer?)
c.2371_2372del (p.Ser791ProfsTer?)
n.2776_2777del
 ClinVar dbSNP gnomAD v4
7g.143351815T>ACA458542385CLCN1c.2817T>A (p.Pro939=)
n.2757T>A
c.2841T>A (p.Pro947=)
c.1563T>A (p.Pro521=)
c.2391T>A (p.Pro797=)
c.2367T>A (p.Pro789=)
n.2772T>A
7g.143351815T>CCA458542386CLCN1c.2817T>C (p.Pro939=)
n.2757T>C
c.2841T>C (p.Pro947=)
c.1563T>C (p.Pro521=)
c.2391T>C (p.Pro797=)
c.2367T>C (p.Pro789=)
n.2772T>C
 gnomAD v4
7g.143351815T>GCA458542387CLCN1c.2817T>G (p.Pro939=)
n.2757T>G
c.2841T>G (p.Pro947=)
c.1563T>G (p.Pro521=)
c.2391T>G (p.Pro797=)
c.2367T>G (p.Pro789=)
n.2772T>G
7g.143351816C>ACA369653868CLCN1c.2818C>A (p.Leu940Ile)
n.2758C>A
c.2842C>A (p.Leu948Ile)
c.1564C>A (p.Leu522Ile)
c.2392C>A (p.Leu798Ile)
c.2368C>A (p.Leu790Ile)
n.2773C>A
7g.143351816C=CA1748898348CLCN1c.2818C= (p.Leu940=)
n.2758C=
c.2842C= (p.Leu948=)
c.1564C= (p.Leu522=)
c.2392C= (p.Leu798=)
c.2368C= (p.Leu790=)
n.2773C=
7g.143351816C>GCA4537792CLCN1c.2818C>G (p.Leu940Val)
n.2758C>G
c.2842C>G (p.Leu948Val)
c.1564C>G (p.Leu522Val)
c.2392C>G (p.Leu798Val)
c.2368C>G (p.Leu790Val)
n.2773C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351816C>TCA369653869CLCN1c.2818C>T (p.Leu940Phe)
n.2758C>T
c.2842C>T (p.Leu948Phe)
c.1564C>T (p.Leu522Phe)
c.2392C>T (p.Leu798Phe)
c.2368C>T (p.Leu790Phe)
n.2773C>T
 COSMIC
7g.143351817T>ACA369653871CLCN1c.2819T>A (p.Leu940His)
n.2759T>A
c.2843T>A (p.Leu948His)
c.1565T>A (p.Leu522His)
c.2393T>A (p.Leu798His)
c.2369T>A (p.Leu790His)
n.2774T>A
 gnomAD v4
7g.143351817T>CCA369653872CLCN1c.2819T>C (p.Leu940Pro)
n.2759T>C
c.2843T>C (p.Leu948Pro)
c.1565T>C (p.Leu522Pro)
c.2393T>C (p.Leu798Pro)
c.2369T>C (p.Leu790Pro)
n.2774T>C
7g.143351817T>GCA369653870CLCN1c.2819T>G (p.Leu940Arg)
n.2759T>G
c.2843T>G (p.Leu948Arg)
c.1565T>G (p.Leu522Arg)
c.2393T>G (p.Leu798Arg)
c.2369T>G (p.Leu790Arg)
n.2774T>G
7g.143351818C>ACA458542393CLCN1c.2820C>A (p.Leu940=)
n.2760C>A
c.2844C>A (p.Leu948=)
c.1566C>A (p.Leu522=)
c.2394C>A (p.Leu798=)
c.2370C>A (p.Leu790=)
n.2775C>A
7g.143351818C>GCA458542395CLCN1c.2820C>G (p.Leu940=)
n.2760C>G
c.2844C>G (p.Leu948=)
c.1566C>G (p.Leu522=)
c.2394C>G (p.Leu798=)
c.2370C>G (p.Leu790=)
n.2775C>G
7g.143351818C>TCA458542396CLCN1c.2820C>T (p.Leu940=)
n.2760C>T
c.2844C>T (p.Leu948=)
c.1566C>T (p.Leu522=)
c.2394C>T (p.Leu798=)
c.2370C>T (p.Leu790=)
n.2775C>T
 gnomAD v4
7g.143351819T>ACA369653873CLCN1c.2821T>A (p.Ser941Thr)
n.2761T>A
c.2845T>A (p.Ser949Thr)
c.1567T>A (p.Ser523Thr)
c.2395T>A (p.Ser799Thr)
c.2371T>A (p.Ser791Thr)
n.2776T>A
7g.143351819T>CCA369653874CLCN1c.2821T>C (p.Ser941Pro)
n.2761T>C
c.2845T>C (p.Ser949Pro)
c.1567T>C (p.Ser523Pro)
c.2395T>C (p.Ser799Pro)
c.2371T>C (p.Ser791Pro)
n.2776T>C
7g.143351819T>GCA369653875CLCN1c.2821T>G (p.Ser941Ala)
n.2761T>G
c.2845T>G (p.Ser949Ala)
c.1567T>G (p.Ser523Ala)
c.2395T>G (p.Ser799Ala)
c.2371T>G (p.Ser791Ala)
n.2776T>G
7g.143351820C>ACA369653876CLCN1c.2822C>A (p.Ser941Tyr)
n.2762C>A
c.2846C>A (p.Ser949Tyr)
c.1568C>A (p.Ser523Tyr)
c.2396C>A (p.Ser799Tyr)
c.2372C>A (p.Ser791Tyr)
n.2777C>A
7g.143351820C=CA1748898349CLCN1c.2822C= (p.Ser941=)
n.2762C=
c.2846C= (p.Ser949=)
c.1568C= (p.Ser523=)
c.2396C= (p.Ser799=)
c.2372C= (p.Ser791=)
n.2777C=
7g.143351820C>GCA369653877CLCN1c.2822C>G (p.Ser941Cys)
n.2762C>G
c.2846C>G (p.Ser949Cys)
c.1568C>G (p.Ser523Cys)
c.2396C>G (p.Ser799Cys)
c.2372C>G (p.Ser791Cys)
n.2777C>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351820C>TCA4537793CLCN1c.2822C>T (p.Ser941Phe)
n.2762C>T
c.2846C>T (p.Ser949Phe)
c.1568C>T (p.Ser523Phe)
c.2396C>T (p.Ser799Phe)
c.2372C>T (p.Ser791Phe)
n.2777C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351821C>ACA458542400CLCN1c.2823C>A (p.Ser941=)
n.2763C>A
c.2847C>A (p.Ser949=)
c.1569C>A (p.Ser523=)
c.2397C>A (p.Ser799=)
c.2373C>A (p.Ser791=)
n.2778C>A
7g.143351821C>GCA458542401CLCN1c.2823C>G (p.Ser941=)
n.2763C>G
c.2847C>G (p.Ser949=)
c.1569C>G (p.Ser523=)
c.2397C>G (p.Ser799=)
c.2373C>G (p.Ser791=)
n.2778C>G
7g.143351821C>TCA458542402CLCN1c.2823C>T (p.Ser941=)
n.2763C>T
c.2847C>T (p.Ser949=)
c.1569C>T (p.Ser523=)
c.2397C>T (p.Ser799=)
c.2373C>T (p.Ser791=)
n.2778C>T
 gnomAD v4 COSMIC
7g.143351822C>ACA369653879CLCN1c.2824C>A (p.Leu942Met)
n.2764C>A
c.2848C>A (p.Leu950Met)
c.1570C>A (p.Leu524Met)
c.2398C>A (p.Leu800Met)
c.2374C>A (p.Leu792Met)
n.2779C>A
7g.143351822C>GCA369653878CLCN1c.2824C>G (p.Leu942Val)
n.2764C>G
c.2848C>G (p.Leu950Val)
c.1570C>G (p.Leu524Val)
c.2398C>G (p.Leu800Val)
c.2374C>G (p.Leu792Val)
n.2779C>G
7g.143351822C>TCA458542404CLCN1c.2824C>T (p.Leu942=)
n.2764C>T
c.2848C>T (p.Leu950=)
c.1570C>T (p.Leu524=)
c.2398C>T (p.Leu800=)
c.2374C>T (p.Leu792=)
n.2779C>T
7g.143351823T>ACA369653880CLCN1c.2825T>A (p.Leu942Gln)
n.2765T>A
c.2849T>A (p.Leu950Gln)
c.1571T>A (p.Leu524Gln)
c.2399T>A (p.Leu800Gln)
c.2375T>A (p.Leu792Gln)
n.2780T>A
 dbSNP gnomAD v4
7g.143351823T>CCA369653881CLCN1c.2825T>C (p.Leu942Pro)
n.2765T>C
c.2849T>C (p.Leu950Pro)
c.1571T>C (p.Leu524Pro)
c.2399T>C (p.Leu800Pro)
c.2375T>C (p.Leu792Pro)
n.2780T>C
7g.143351823T>GCA369653882CLCN1c.2825T>G (p.Leu942Arg)
n.2765T>G
c.2849T>G (p.Leu950Arg)
c.1571T>G (p.Leu524Arg)
c.2399T>G (p.Leu800Arg)
c.2375T>G (p.Leu792Arg)
n.2780T>G
7g.143351823T=CA1748898350CLCN1c.2825T= (p.Leu942=)
n.2765T=
c.2849T= (p.Leu950=)
c.1571T= (p.Leu524=)
c.2399T= (p.Leu800=)
c.2375T= (p.Leu792=)
n.2780T=
7g.143351824G>ACA458542407CLCN1c.2826G>A (p.Leu942=)
n.2766G>A
c.2850G>A (p.Leu950=)
c.1572G>A (p.Leu524=)
c.2400G>A (p.Leu800=)
c.2376G>A (p.Leu792=)
n.2781G>A
 COSMIC
7g.143351824G>CCA458542405CLCN1c.2826G>C (p.Leu942=)
n.2766G>C
c.2850G>C (p.Leu950=)
c.1572G>C (p.Leu524=)
c.2400G>C (p.Leu800=)
c.2376G>C (p.Leu792=)
n.2781G>C
7g.143351824G>TCA458542406CLCN1c.2826G>T (p.Leu942=)
n.2766G>T
c.2850G>T (p.Leu950=)
c.1572G>T (p.Leu524=)
c.2400G>T (p.Leu800=)
c.2376G>T (p.Leu792=)
n.2781G>T
7g.143351825G>ACA369653883CLCN1c.2827G>A (p.Ala943Thr)
n.2767G>A
c.2851G>A (p.Ala951Thr)
c.1573G>A (p.Ala525Thr)
c.2401G>A (p.Ala801Thr)
c.2377G>A (p.Ala793Thr)
n.2782G>A
7g.143351825G>CCA369653884CLCN1c.2827G>C (p.Ala943Pro)
n.2767G>C
c.2851G>C (p.Ala951Pro)
c.1573G>C (p.Ala525Pro)
c.2401G>C (p.Ala801Pro)
c.2377G>C (p.Ala793Pro)
n.2782G>C
7g.143351825G=CA1748898351CLCN1c.2827G= (p.Ala943=)
n.2767G=
c.2851G= (p.Ala951=)
c.1573G= (p.Ala525=)
c.2401G= (p.Ala801=)
c.2377G= (p.Ala793=)
n.2782G=
7g.143351825G>TCA369653885CLCN1c.2827G>T (p.Ala943Ser)
n.2767G>T
c.2851G>T (p.Ala951Ser)
c.1573G>T (p.Ala525Ser)
c.2401G>T (p.Ala801Ser)
c.2377G>T (p.Ala793Ser)
n.2782G>T
7g.143351826C>ACA369653888CLCN1c.2828C>A (p.Ala943Asp)
n.2768C>A
c.2852C>A (p.Ala951Asp)
c.1574C>A (p.Ala525Asp)
c.2402C>A (p.Ala801Asp)
c.2378C>A (p.Ala793Asp)
n.2783C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351826C=CA1748898352CLCN1c.2828C= (p.Ala943=)
n.2768C=
c.2852C= (p.Ala951=)
c.1574C= (p.Ala525=)
c.2402C= (p.Ala801=)
c.2378C= (p.Ala793=)
n.2783C=
7g.143351826C>GCA369653886CLCN1c.2828C>G (p.Ala943Gly)
n.2768C>G
c.2852C>G (p.Ala951Gly)
c.1574C>G (p.Ala525Gly)
c.2402C>G (p.Ala801Gly)
c.2378C>G (p.Ala793Gly)
n.2783C>G
7g.143351826C>TCA369653887CLCN1c.2828C>T (p.Ala943Val)
n.2768C>T
c.2852C>T (p.Ala951Val)
c.1574C>T (p.Ala525Val)
c.2402C>T (p.Ala801Val)
c.2378C>T (p.Ala793Val)
n.2783C>T
 gnomAD v4
7g.143351829dupCA4537794CLCN1c.2831dup (p.Gly945ArgfsTer?)
n.2771dup
c.2855dup (p.Gly953ArgfsTer?)
c.1577dup (p.Gly527ArgfsTer?)
c.2405dup (p.Gly803ArgfsTer?)
c.2381dup (p.Gly795ArgfsTer?)
n.2786dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351827C>ACA458542410CLCN1c.2829C>A (p.Ala943=)
n.2769C>A
c.2853C>A (p.Ala951=)
c.1575C>A (p.Ala525=)
c.2403C>A (p.Ala801=)
c.2379C>A (p.Ala793=)
n.2784C>A
7g.143351827C>GCA458542412CLCN1c.2829C>G (p.Ala943=)
n.2769C>G
c.2853C>G (p.Ala951=)
c.1575C>G (p.Ala525=)
c.2403C>G (p.Ala801=)
c.2379C>G (p.Ala793=)
n.2784C>G
7g.143351827C>TCA458542414CLCN1c.2829C>T (p.Ala943=)
n.2769C>T
c.2853C>T (p.Ala951=)
c.1575C>T (p.Ala525=)
c.2403C>T (p.Ala801=)
c.2379C>T (p.Ala793=)
n.2784C>T
7g.143351828C>ACA369653891CLCN1c.2830C>A (p.Pro944Thr)
n.2770C>A
c.2854C>A (p.Pro952Thr)
c.1576C>A (p.Pro526Thr)
c.2404C>A (p.Pro802Thr)
c.2380C>A (p.Pro794Thr)
n.2785C>A
7g.143351828C>GCA369653892CLCN1c.2830C>G (p.Pro944Ala)
n.2770C>G
c.2854C>G (p.Pro952Ala)
c.1576C>G (p.Pro526Ala)
c.2404C>G (p.Pro802Ala)
c.2380C>G (p.Pro794Ala)
n.2785C>G
 gnomAD v4
7g.143351828C>TCA369653893CLCN1c.2830C>T (p.Pro944Ser)
n.2770C>T
c.2854C>T (p.Pro952Ser)
c.1576C>T (p.Pro526Ser)
c.2404C>T (p.Pro802Ser)
c.2380C>T (p.Pro794Ser)
n.2785C>T
7g.143351829C>ACA369653894CLCN1c.2831C>A (p.Pro944Gln)
n.2771C>A
c.2855C>A (p.Pro952Gln)
c.1577C>A (p.Pro526Gln)
c.2405C>A (p.Pro802Gln)
c.2381C>A (p.Pro794Gln)
n.2786C>A
7g.143351829C=CA1748898353CLCN1c.2831C= (p.Pro944=)
n.2771C=
c.2855C= (p.Pro952=)
c.1577C= (p.Pro526=)
c.2405C= (p.Pro802=)
c.2381C= (p.Pro794=)
n.2786C=
7g.143351829C>GCA369653895CLCN1c.2831C>G (p.Pro944Arg)
n.2771C>G
c.2855C>G (p.Pro952Arg)
c.1577C>G (p.Pro526Arg)
c.2405C>G (p.Pro802Arg)
c.2381C>G (p.Pro794Arg)
n.2786C>G
7g.143351829C>TCA369653896CLCN1c.2831C>T (p.Pro944Leu)
n.2771C>T
c.2855C>T (p.Pro952Leu)
c.1577C>T (p.Pro526Leu)
c.2405C>T (p.Pro802Leu)
c.2381C>T (p.Pro794Leu)
n.2786C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351830A=CA1748898354CLCN1c.2832A= (p.Pro944=)
n.2772A=
c.2856A= (p.Pro952=)
c.1578A= (p.Pro526=)
c.2406A= (p.Pro802=)
c.2382A= (p.Pro794=)
n.2787A=
7g.143351830A>CCA4537795CLCN1c.2832A>C (p.Pro944=)
n.2772A>C
c.2856A>C (p.Pro952=)
c.1578A>C (p.Pro526=)
c.2406A>C (p.Pro802=)
c.2382A>C (p.Pro794=)
n.2787A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351830A>GCA458542419CLCN1c.2832A>G (p.Pro944=)
n.2772A>G
c.2856A>G (p.Pro952=)
c.1578A>G (p.Pro526=)
c.2406A>G (p.Pro802=)
c.2382A>G (p.Pro794=)
n.2787A>G
7g.143351830A>TCA458542421CLCN1c.2832A>T (p.Pro944=)
n.2772A>T
c.2856A>T (p.Pro952=)
c.1578A>T (p.Pro526=)
c.2406A>T (p.Pro802=)
c.2382A>T (p.Pro794=)
n.2787A>T
7g.143351831G>ACA4537796CLCN1c.2833G>A (p.Gly945Ser)
n.2773G>A
c.2857G>A (p.Gly953Ser)
c.1579G>A (p.Gly527Ser)
c.2407G>A (p.Gly803Ser)
c.2383G>A (p.Gly795Ser)
n.2788G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351831G>CCA369653897CLCN1c.2833G>C (p.Gly945Arg)
n.2773G>C
c.2857G>C (p.Gly953Arg)
c.1579G>C (p.Gly527Arg)
c.2407G>C (p.Gly803Arg)
c.2383G>C (p.Gly795Arg)
n.2788G>C
7g.143351831G=CA1748898355CLCN1c.2833G= (p.Gly945=)
n.2773G=
c.2857G= (p.Gly953=)
c.1579G= (p.Gly527=)
c.2407G= (p.Gly803=)
c.2383G= (p.Gly795=)
n.2788G=
7g.143351831G>TCA369653898CLCN1c.2833G>T (p.Gly945Cys)
n.2773G>T
c.2857G>T (p.Gly953Cys)
c.1579G>T (p.Gly527Cys)
c.2407G>T (p.Gly803Cys)
c.2383G>T (p.Gly795Cys)
n.2788G>T
7g.143351832G>ACA369653899CLCN1c.2834G>A (p.Gly945Asp)
n.2774G>A
c.2858G>A (p.Gly953Asp)
c.1580G>A (p.Gly527Asp)
c.2408G>A (p.Gly803Asp)
c.2384G>A (p.Gly795Asp)
n.2789G>A
7g.143351832G>CCA369653900CLCN1c.2834G>C (p.Gly945Ala)
n.2774G>C
c.2858G>C (p.Gly953Ala)
c.1580G>C (p.Gly527Ala)
c.2408G>C (p.Gly803Ala)
c.2384G>C (p.Gly795Ala)
n.2789G>C
7g.143351832G=CA1748898356CLCN1c.2834G= (p.Gly945=)
n.2774G=
c.2858G= (p.Gly953=)
c.1580G= (p.Gly527=)
c.2408G= (p.Gly803=)
c.2384G= (p.Gly795=)
n.2789G=
7g.143351832G>TCA4537797CLCN1c.2834G>T (p.Gly945Val)
n.2774G>T
c.2858G>T (p.Gly953Val)
c.1580G>T (p.Gly527Val)
c.2408G>T (p.Gly803Val)
c.2384G>T (p.Gly795Val)
n.2789G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351833C>ACA458542426CLCN1c.2835C>A (p.Gly945=)
n.2775C>A
c.2859C>A (p.Gly953=)
c.1581C>A (p.Gly527=)
c.2409C>A (p.Gly803=)
c.2385C>A (p.Gly795=)
n.2790C>A
7g.143351833C>GCA458542427CLCN1c.2835C>G (p.Gly945=)
n.2775C>G
c.2859C>G (p.Gly953=)
c.1581C>G (p.Gly527=)
c.2409C>G (p.Gly803=)
c.2385C>G (p.Gly795=)
n.2790C>G
7g.143351833C>TCA458542429CLCN1c.2835C>T (p.Gly945=)
n.2775C>T
c.2859C>T (p.Gly953=)
c.1581C>T (p.Gly527=)
c.2409C>T (p.Gly803=)
c.2385C>T (p.Gly795=)
n.2790C>T
7g.143351834A>CCA369653903CLCN1c.2836A>C (p.Lys946Gln)
n.2776A>C
c.2860A>C (p.Lys954Gln)
c.1582A>C (p.Lys528Gln)
c.2410A>C (p.Lys804Gln)
c.2386A>C (p.Lys796Gln)
n.2791A>C
7g.143351834A>GCA369653901CLCN1c.2836A>G (p.Lys946Glu)
n.2776A>G
c.2860A>G (p.Lys954Glu)
c.1582A>G (p.Lys528Glu)
c.2410A>G (p.Lys804Glu)
c.2386A>G (p.Lys796Glu)
n.2791A>G
7g.143351834A>TCA369653902CLCN1c.2836A>T (p.Lys946Ter)
n.2776A>T
c.2860A>T (p.Lys954Ter)
c.1582A>T (p.Lys528Ter)
c.2410A>T (p.Lys804Ter)
c.2386A>T (p.Lys796Ter)
n.2791A>T
7g.143351835A>CCA369653904CLCN1c.2837A>C (p.Lys946Thr)
n.2777A>C
c.2861A>C (p.Lys954Thr)
c.1583A>C (p.Lys528Thr)
c.2411A>C (p.Lys804Thr)
c.2387A>C (p.Lys796Thr)
n.2792A>C
7g.143351835A>GCA369653905CLCN1c.2837A>G (p.Lys946Arg)
n.2777A>G
c.2861A>G (p.Lys954Arg)
c.1583A>G (p.Lys528Arg)
c.2411A>G (p.Lys804Arg)
c.2387A>G (p.Lys796Arg)
n.2792A>G
7g.143351835A>TCA369653906CLCN1c.2837A>T (p.Lys946Met)
n.2777A>T
c.2861A>T (p.Lys954Met)
c.1583A>T (p.Lys528Met)
c.2411A>T (p.Lys804Met)
c.2387A>T (p.Lys796Met)
n.2792A>T
7g.143351836G>ACA458542433CLCN1c.2838G>A (p.Lys946=)
n.2778G>A
c.2862G>A (p.Lys954=)
c.1584G>A (p.Lys528=)
c.2412G>A (p.Lys804=)
c.2388G>A (p.Lys796=)
n.2793G>A
7g.143351836G>CCA369653907CLCN1c.2838G>C (p.Lys946Asn)
n.2778G>C
c.2862G>C (p.Lys954Asn)
c.1584G>C (p.Lys528Asn)
c.2412G>C (p.Lys804Asn)
c.2388G>C (p.Lys796Asn)
n.2793G>C
7g.143351836G>TCA369653908CLCN1c.2838G>T (p.Lys946Asn)
n.2778G>T
c.2862G>T (p.Lys954Asn)
c.1584G>T (p.Lys528Asn)
c.2412G>T (p.Lys804Asn)
c.2388G>T (p.Lys796Asn)
n.2793G>T
7g.143351837G>ACA369653911CLCN1c.2839G>A (p.Val947Ile)
n.2779G>A
c.2863G>A (p.Val955Ile)
c.1585G>A (p.Val529Ile)
c.2413G>A (p.Val805Ile)
c.2389G>A (p.Val797Ile)
n.2794G>A
 dbSNP
7g.143351837G>CCA369653910CLCN1c.2839G>C (p.Val947Leu)
n.2779G>C
c.2863G>C (p.Val955Leu)
c.1585G>C (p.Val529Leu)
c.2413G>C (p.Val805Leu)
c.2389G>C (p.Val797Leu)
n.2794G>C
7g.143351837G=CA1748898357CLCN1c.2839G= (p.Val947=)
n.2779G=
c.2863G= (p.Val955=)
c.1585G= (p.Val529=)
c.2413G= (p.Val805=)
c.2389G= (p.Val797=)
n.2794G=
7g.143351837G>TCA369653909CLCN1c.2839G>T (p.Val947Leu)
n.2779G>T
c.2863G>T (p.Val955Leu)
c.1585G>T (p.Val529Leu)
c.2413G>T (p.Val805Leu)
c.2389G>T (p.Val797Leu)
n.2794G>T
7g.143351838T>ACA369653912CLCN1c.2840T>A (p.Val947Glu)
n.2780T>A
c.2864T>A (p.Val955Glu)
c.1586T>A (p.Val529Glu)
c.2414T>A (p.Val805Glu)
c.2390T>A (p.Val797Glu)
n.2795T>A
7g.143351838T>CCA4537798CLCN1c.2840T>C (p.Val947Ala)
n.2780T>C
c.2864T>C (p.Val955Ala)
c.1586T>C (p.Val529Ala)
c.2414T>C (p.Val805Ala)
c.2390T>C (p.Val797Ala)
n.2795T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351838T>GCA369653913CLCN1c.2840T>G (p.Val947Gly)
n.2780T>G
c.2864T>G (p.Val955Gly)
c.1586T>G (p.Val529Gly)
c.2414T>G (p.Val805Gly)
c.2390T>G (p.Val797Gly)
n.2795T>G
7g.143351838T=CA1748898358CLCN1c.2840T= (p.Val947=)
n.2780T=
c.2864T= (p.Val955=)
c.1586T= (p.Val529=)
c.2414T= (p.Val805=)
c.2390T= (p.Val797=)
n.2795T=
7g.143351839A>CCA458542439CLCN1c.2841A>C (p.Val947=)
n.2781A>C
c.2865A>C (p.Val955=)
c.1587A>C (p.Val529=)
c.2415A>C (p.Val805=)
c.2391A>C (p.Val797=)
n.2796A>C
7g.143351839A>GCA458542438CLCN1c.2841A>G (p.Val947=)
n.2781A>G
c.2865A>G (p.Val955=)
c.1587A>G (p.Val529=)
c.2415A>G (p.Val805=)
c.2391A>G (p.Val797=)
n.2796A>G
7g.143351839A>TCA458542437CLCN1c.2841A>T (p.Val947=)
n.2781A>T
c.2865A>T (p.Val955=)
c.1587A>T (p.Val529=)
c.2415A>T (p.Val805=)
c.2391A>T (p.Val797=)
n.2796A>T
7g.143351840G>ACA369653915CLCN1c.2842G>A (p.Glu948Lys)
n.2782G>A
c.2866G>A (p.Glu956Lys)
c.1588G>A (p.Glu530Lys)
c.2416G>A (p.Glu806Lys)
c.2392G>A (p.Glu798Lys)
n.2797G>A
7g.143351840G>CCA369653916CLCN1c.2842G>C (p.Glu948Gln)
n.2782G>C
c.2866G>C (p.Glu956Gln)
c.1588G>C (p.Glu530Gln)
c.2416G>C (p.Glu806Gln)
c.2392G>C (p.Glu798Gln)
n.2797G>C
7g.143351840G>TCA369653918CLCN1c.2842G>T (p.Glu948Ter)
n.2782G>T
c.2866G>T (p.Glu956Ter)
c.1588G>T (p.Glu530Ter)
c.2416G>T (p.Glu806Ter)
c.2392G>T (p.Glu798Ter)
n.2797G>T
7g.143351841A>CCA369653923CLCN1c.2843A>C (p.Glu948Ala)
n.2783A>C
c.2867A>C (p.Glu956Ala)
c.1589A>C (p.Glu530Ala)
c.2417A>C (p.Glu806Ala)
c.2393A>C (p.Glu798Ala)
n.2798A>C
7g.143351841A>GCA369653920CLCN1c.2843A>G (p.Glu948Gly)
n.2783A>G
c.2867A>G (p.Glu956Gly)
c.1589A>G (p.Glu530Gly)
c.2417A>G (p.Glu806Gly)
c.2393A>G (p.Glu798Gly)
n.2798A>G
7g.143351841A>TCA369653921CLCN1c.2843A>T (p.Glu948Val)
n.2783A>T
c.2867A>T (p.Glu956Val)
c.1589A>T (p.Glu530Val)
c.2417A>T (p.Glu806Val)
c.2393A>T (p.Glu798Val)
n.2798A>T
7g.143351842G>ACA458542444CLCN1c.2844G>A (p.Glu948=)
n.2784G>A
c.2868G>A (p.Glu956=)
c.1590G>A (p.Glu530=)
c.2418G>A (p.Glu806=)
c.2394G>A (p.Glu798=)
n.2799G>A
7g.143351842G>CCA369653928CLCN1c.2844G>C (p.Glu948Asp)
n.2784G>C
c.2868G>C (p.Glu956Asp)
c.1590G>C (p.Glu530Asp)
c.2418G>C (p.Glu806Asp)
c.2394G>C (p.Glu798Asp)
n.2799G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351842G=CA1748898359CLCN1c.2844G= (p.Glu948=)
n.2784G=
c.2868G= (p.Glu956=)
c.1590G= (p.Glu530=)
c.2418G= (p.Glu806=)
c.2394G= (p.Glu798=)
n.2799G=
7g.143351842G>TCA369653930CLCN1c.2844G>T (p.Glu948Asp)
n.2784G>T
c.2868G>T (p.Glu956Asp)
c.1590G>T (p.Glu530Asp)
c.2418G>T (p.Glu806Asp)
c.2394G>T (p.Glu798Asp)
n.2799G>T
7g.143351843G>ACA369653931CLCN1c.2845G>A (p.Gly949Ser)
n.2785G>A
c.2869G>A (p.Gly957Ser)
c.1591G>A (p.Gly531Ser)
c.2419G>A (p.Gly807Ser)
c.2395G>A (p.Gly799Ser)
n.2800G>A
 gnomAD v4
7g.143351843G>CCA369653932CLCN1c.2845G>C (p.Gly949Arg)
n.2785G>C
c.2869G>C (p.Gly957Arg)
c.1591G>C (p.Gly531Arg)
c.2419G>C (p.Gly807Arg)
c.2395G>C (p.Gly799Arg)
n.2800G>C
7g.143351843G>TCA369653933CLCN1c.2845G>T (p.Gly949Cys)
n.2785G>T
c.2869G>T (p.Gly957Cys)
c.1591G>T (p.Gly531Cys)
c.2419G>T (p.Gly807Cys)
c.2395G>T (p.Gly799Cys)
n.2800G>T
7g.143351844G>ACA369653935CLCN1c.2846G>A (p.Gly949Asp)
n.2786G>A
c.2870G>A (p.Gly957Asp)
c.1592G>A (p.Gly531Asp)
c.2420G>A (p.Gly807Asp)
c.2396G>A (p.Gly799Asp)
n.2801G>A
7g.143351844G>CCA369653937CLCN1c.2846G>C (p.Gly949Ala)
n.2786G>C
c.2870G>C (p.Gly957Ala)
c.1592G>C (p.Gly531Ala)
c.2420G>C (p.Gly807Ala)
c.2396G>C (p.Gly799Ala)
n.2801G>C
7g.143351844G>TCA369653938CLCN1c.2846G>T (p.Gly949Val)
n.2786G>T
c.2870G>T (p.Gly957Val)
c.1592G>T (p.Gly531Val)
c.2420G>T (p.Gly807Val)
c.2396G>T (p.Gly799Val)
n.2801G>T
7g.143351845C>ACA458542451CLCN1c.2847C>A (p.Gly949=)
n.2787C>A
c.2871C>A (p.Gly957=)
c.1593C>A (p.Gly531=)
c.2421C>A (p.Gly807=)
c.2397C>A (p.Gly799=)
n.2802C>A
 ClinVar dbSNP
7g.143351845C=CA1748898360CLCN1c.2847C= (p.Gly949=)
n.2787C=
c.2871C= (p.Gly957=)
c.1593C= (p.Gly531=)
c.2421C= (p.Gly807=)
c.2397C= (p.Gly799=)
n.2802C=
7g.143351845C>GCA458542452CLCN1c.2847C>G (p.Gly949=)
n.2787C>G
c.2871C>G (p.Gly957=)
c.1593C>G (p.Gly531=)
c.2421C>G (p.Gly807=)
c.2397C>G (p.Gly799=)
n.2802C>G
7g.143351845C>TCA4537799CLCN1c.2847C>T (p.Gly949=)
n.2787C>T
c.2871C>T (p.Gly957=)
c.1593C>T (p.Gly531=)
c.2421C>T (p.Gly807=)
c.2397C>T (p.Gly799=)
n.2802C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351846G>ACA4537800CLCN1c.2848G>A (p.Glu950Lys)
n.2788G>A
c.2872G>A (p.Glu958Lys)
c.1594G>A (p.Glu532Lys)
c.2422G>A (p.Glu808Lys)
c.2398G>A (p.Glu800Lys)
n.2803G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351846G>CCA369653942CLCN1c.2848G>C (p.Glu950Gln)
n.2788G>C
c.2872G>C (p.Glu958Gln)
c.1594G>C (p.Glu532Gln)
c.2422G>C (p.Glu808Gln)
c.2398G>C (p.Glu800Gln)
n.2803G>C
7g.143351846G=CA1748898361CLCN1c.2848G= (p.Glu950=)
n.2788G=
c.2872G= (p.Glu958=)
c.1594G= (p.Glu532=)
c.2422G= (p.Glu808=)
c.2398G= (p.Glu800=)
n.2803G=
7g.143351846G>TCA369653944CLCN1c.2848G>T (p.Glu950Ter)
n.2788G>T
c.2872G>T (p.Glu958Ter)
c.1594G>T (p.Glu532Ter)
c.2422G>T (p.Glu808Ter)
c.2398G>T (p.Glu800Ter)
n.2803G>T
 gnomAD v4
7g.143351847A>CCA369653949CLCN1c.2849A>C (p.Glu950Ala)
n.2789A>C
c.2873A>C (p.Glu958Ala)
c.1595A>C (p.Glu532Ala)
c.2423A>C (p.Glu808Ala)
c.2399A>C (p.Glu800Ala)
n.2804A>C
7g.143351847A>GCA369653946CLCN1c.2849A>G (p.Glu950Gly)
n.2789A>G
c.2873A>G (p.Glu958Gly)
c.1595A>G (p.Glu532Gly)
c.2423A>G (p.Glu808Gly)
c.2399A>G (p.Glu800Gly)
n.2804A>G
7g.143351847A>TCA369653948CLCN1c.2849A>T (p.Glu950Val)
n.2789A>T
c.2873A>T (p.Glu958Val)
c.1595A>T (p.Glu532Val)
c.2423A>T (p.Glu808Val)
c.2399A>T (p.Glu800Val)
n.2804A>T
7g.143351848G>ACA458542457CLCN1c.2850G>A (p.Glu950=)
n.2790G>A
c.2874G>A (p.Glu958=)
c.1596G>A (p.Glu532=)
c.2424G>A (p.Glu808=)
c.2400G>A (p.Glu800=)
n.2805G>A
7g.143351848G>CCA369653951CLCN1c.2850G>C (p.Glu950Asp)
n.2790G>C
c.2874G>C (p.Glu958Asp)
c.1596G>C (p.Glu532Asp)
c.2424G>C (p.Glu808Asp)
c.2400G>C (p.Glu800Asp)
n.2805G>C
7g.143351848G>TCA369653952CLCN1c.2850G>T (p.Glu950Asp)
n.2790G>T
c.2874G>T (p.Glu958Asp)
c.1596G>T (p.Glu532Asp)
c.2424G>T (p.Glu808Asp)
c.2400G>T (p.Glu800Asp)
n.2805G>T
7g.143351848_143351850delinsGTTCA1748898362CLCN1c.2850_2852delinsGTT (p.Glu950=)
n.2790_2792delinsGTT
c.2874_2876delinsGTT (p.Glu958=)
c.1596_1598delinsGTT (p.Glu532=)
c.2424_2426delinsGTT (p.Glu808=)
c.2400_2402delinsGTT (p.Glu800=)
n.2805_2807delinsGTT
7g.143351849T>ACA369653954CLCN1c.2851T>A (p.Leu951Met)
n.2791T>A
c.2875T>A (p.Leu959Met)
c.1597T>A (p.Leu533Met)
c.2425T>A (p.Leu809Met)
c.2401T>A (p.Leu801Met)
n.2806T>A
7g.143351849T>CCA4537801CLCN1c.2851T>C (p.Leu951=)
n.2791T>C
c.2875T>C (p.Leu959=)
c.1597T>C (p.Leu533=)
c.2425T>C (p.Leu809=)
c.2401T>C (p.Leu801=)
n.2806T>C
 dbSNP ExAC gnomAD v4
7g.143351849T>GCA369653956CLCN1c.2851T>G (p.Leu951Val)
n.2791T>G
c.2875T>G (p.Leu959Val)
c.1597T>G (p.Leu533Val)
c.2425T>G (p.Leu809Val)
c.2401T>G (p.Leu801Val)
n.2806T>G
 gnomAD v4
7g.143351849T=CA1748898363CLCN1c.2851T= (p.Leu951=)
n.2791T=
c.2875T= (p.Leu959=)
c.1597T= (p.Leu533=)
c.2425T= (p.Leu809=)
c.2401T= (p.Leu801=)
n.2806T=
7g.143351849_143351850delCA918151271CLCN1c.2851_2852del (p.Leu951GlyfsTer?)
n.2791_2792del
c.2875_2876del (p.Leu959GlyfsTer?)
c.1597_1598del (p.Leu533GlyfsTer?)
c.2425_2426del (p.Leu809GlyfsTer?)
c.2401_2402del (p.Leu801GlyfsTer?)
n.2806_2807del
 dbSNP
7g.143351850T>ACA369653958CLCN1c.2852T>A (p.Leu951Ter)
n.2792T>A
c.2876T>A (p.Leu959Ter)
c.1598T>A (p.Leu533Ter)
c.2426T>A (p.Leu809Ter)
c.2402T>A (p.Leu801Ter)
n.2807T>A
7g.143351850T>CCA369653959CLCN1c.2852T>C (p.Leu951Ser)
n.2792T>C
c.2876T>C (p.Leu959Ser)
c.1598T>C (p.Leu533Ser)
c.2426T>C (p.Leu809Ser)
c.2402T>C (p.Leu801Ser)
n.2807T>C
7g.143351850T>GCA369653960CLCN1c.2852T>G (p.Leu951Trp)
n.2792T>G
c.2876T>G (p.Leu959Trp)
c.1598T>G (p.Leu533Trp)
c.2426T>G (p.Leu809Trp)
c.2402T>G (p.Leu801Trp)
n.2807T>G
7g.143351851G>ACA4537802CLCN1c.2853G>A (p.Leu951=)
n.2793G>A
c.2877G>A (p.Leu959=)
c.1599G>A (p.Leu533=)
c.2427G>A (p.Leu809=)
c.2403G>A (p.Leu801=)
n.2808G>A
 dbSNP ExAC gnomAD v2
7g.143351851G>CCA369653962CLCN1c.2853G>C (p.Leu951Phe)
n.2793G>C
c.2877G>C (p.Leu959Phe)
c.1599G>C (p.Leu533Phe)
c.2427G>C (p.Leu809Phe)
c.2403G>C (p.Leu801Phe)
n.2808G>C
7g.143351851G=CA1748898364CLCN1c.2853G= (p.Leu951=)
n.2793G=
c.2877G= (p.Leu959=)
c.1599G= (p.Leu533=)
c.2427G= (p.Leu809=)
c.2403G= (p.Leu801=)
n.2808G=
7g.143351851G>TCA369653963CLCN1c.2853G>T (p.Leu951Phe)
n.2793G>T
c.2877G>T (p.Leu959Phe)
c.1599G>T (p.Leu533Phe)
c.2427G>T (p.Leu809Phe)
c.2403G>T (p.Leu801Phe)
n.2808G>T
7g.143351852G>ACA369653965CLCN1c.2854G>A (p.Glu952Lys)
n.2794G>A
c.2878G>A (p.Glu960Lys)
c.1600G>A (p.Glu534Lys)
c.2428G>A (p.Glu810Lys)
c.2404G>A (p.Glu802Lys)
n.2809G>A
7g.143351852G>CCA369653967CLCN1c.2854G>C (p.Glu952Gln)
n.2794G>C
c.2878G>C (p.Glu960Gln)
c.1600G>C (p.Glu534Gln)
c.2428G>C (p.Glu810Gln)
c.2404G>C (p.Glu802Gln)
n.2809G>C
 gnomAD v4
7g.143351852G>TCA369653969CLCN1c.2854G>T (p.Glu952Ter)
n.2794G>T
c.2878G>T (p.Glu960Ter)
c.1600G>T (p.Glu534Ter)
c.2428G>T (p.Glu810Ter)
c.2404G>T (p.Glu802Ter)
n.2809G>T
7g.143351853A=CA1748898365CLCN1c.2855A= (p.Glu952=)
n.2795A=
c.2879A= (p.Glu960=)
c.1601A= (p.Glu534=)
c.2429A= (p.Glu810=)
c.2405A= (p.Glu802=)
n.2810A=
7g.143351853A>CCA369653973CLCN1c.2855A>C (p.Glu952Ala)
n.2795A>C
c.2879A>C (p.Glu960Ala)
c.1601A>C (p.Glu534Ala)
c.2429A>C (p.Glu810Ala)
c.2405A>C (p.Glu802Ala)
n.2810A>C
7g.143351853A>GCA4537803CLCN1c.2855A>G (p.Glu952Gly)
n.2795A>G
c.2879A>G (p.Glu960Gly)
c.1601A>G (p.Glu534Gly)
c.2429A>G (p.Glu810Gly)
c.2405A>G (p.Glu802Gly)
n.2810A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351853A>TCA369653971CLCN1c.2855A>T (p.Glu952Val)
n.2795A>T
c.2879A>T (p.Glu960Val)
c.1601A>T (p.Glu534Val)
c.2429A>T (p.Glu810Val)
c.2405A>T (p.Glu802Val)
n.2810A>T
7g.143351854G>ACA458542469CLCN1c.2856G>A (p.Glu952=)
n.2796G>A
c.2880G>A (p.Glu960=)
c.1602G>A (p.Glu534=)
c.2430G>A (p.Glu810=)
c.2406G>A (p.Glu802=)
n.2811G>A
7g.143351854G>CCA369653975CLCN1c.2856G>C (p.Glu952Asp)
n.2796G>C
c.2880G>C (p.Glu960Asp)
c.1602G>C (p.Glu534Asp)
c.2430G>C (p.Glu810Asp)
c.2406G>C (p.Glu802Asp)
n.2811G>C
7g.143351854G>TCA369653976CLCN1c.2856G>T (p.Glu952Asp)
n.2796G>T
c.2880G>T (p.Glu960Asp)
c.1602G>T (p.Glu534Asp)
c.2430G>T (p.Glu810Asp)
c.2406G>T (p.Glu802Asp)
n.2811G>T
7g.143351862_143351867dupCA1748898366CLCN1c.2864_2869dup (p.Leu956_Val957insGluLeu)
n.2804_2809dup
c.2888_2893dup (p.Leu964_Val965insGluLeu)
c.1610_1615dup (p.Leu538_Val539insGluLeu)
c.2438_2443dup (p.Leu814_Val815insGluLeu)
c.2414_2419dup (p.Leu806_Val807insGluLeu)
n.2819_2824dup
 dbSNP
7g.143351855G>ACA369653978CLCN1c.2857G>A (p.Glu953Lys)
n.2797G>A
c.2881G>A (p.Glu961Lys)
c.1603G>A (p.Glu535Lys)
c.2431G>A (p.Glu811Lys)
c.2407G>A (p.Glu803Lys)
n.2812G>A
 COSMIC
7g.143351855G>CCA369653980CLCN1c.2857G>C (p.Glu953Gln)
n.2797G>C
c.2881G>C (p.Glu961Gln)
c.1603G>C (p.Glu535Gln)
c.2431G>C (p.Glu811Gln)
c.2407G>C (p.Glu803Gln)
n.2812G>C
7g.143351855G>TCA369653981CLCN1c.2857G>T (p.Glu953Ter)
n.2797G>T
c.2881G>T (p.Glu961Ter)
c.1603G>T (p.Glu535Ter)
c.2431G>T (p.Glu811Ter)
c.2407G>T (p.Glu803Ter)
n.2812G>T
7g.143351856A>CCA369653983CLCN1c.2858A>C (p.Glu953Ala)
n.2798A>C
c.2882A>C (p.Glu961Ala)
c.1604A>C (p.Glu535Ala)
c.2432A>C (p.Glu811Ala)
c.2408A>C (p.Glu803Ala)
n.2813A>C
7g.143351856A>GCA369653984CLCN1c.2858A>G (p.Glu953Gly)
n.2798A>G
c.2882A>G (p.Glu961Gly)
c.1604A>G (p.Glu535Gly)
c.2432A>G (p.Glu811Gly)
c.2408A>G (p.Glu803Gly)
n.2813A>G
7g.143351856A>TCA369653987CLCN1c.2858A>T (p.Glu953Val)
n.2798A>T
c.2882A>T (p.Glu961Val)
c.1604A>T (p.Glu535Val)
c.2432A>T (p.Glu811Val)
c.2408A>T (p.Glu803Val)
n.2813A>T
7g.143351857G>ACA458542473CLCN1c.2859G>A (p.Glu953=)
n.2799G>A
c.2883G>A (p.Glu961=)
c.1605G>A (p.Glu535=)
c.2433G>A (p.Glu811=)
c.2409G>A (p.Glu803=)
n.2814G>A
7g.143351857G>CCA369653989CLCN1c.2859G>C (p.Glu953Asp)
n.2799G>C
c.2883G>C (p.Glu961Asp)
c.1605G>C (p.Glu535Asp)
c.2433G>C (p.Glu811Asp)
c.2409G>C (p.Glu803Asp)
n.2814G>C
7g.143351857G>TCA369653991CLCN1c.2859G>T (p.Glu953Asp)
n.2799G>T
c.2883G>T (p.Glu961Asp)
c.1605G>T (p.Glu535Asp)
c.2433G>T (p.Glu811Asp)
c.2409G>T (p.Glu803Asp)
n.2814G>T
 gnomAD v4
7g.143351858C>ACA369653993CLCN1c.2860C>A (p.Leu954Met)
n.2800C>A
c.2884C>A (p.Leu962Met)
c.1606C>A (p.Leu536Met)
c.2434C>A (p.Leu812Met)
c.2410C>A (p.Leu804Met)
n.2815C>A
7g.143351858C=CA1748898367CLCN1c.2860C= (p.Leu954=)
n.2800C=
c.2884C= (p.Leu962=)
c.1606C= (p.Leu536=)
c.2434C= (p.Leu812=)
c.2410C= (p.Leu804=)
n.2815C=
7g.143351858C>GCA4537804CLCN1c.2860C>G (p.Leu954Val)
n.2800C>G
c.2884C>G (p.Leu962Val)
c.1606C>G (p.Leu536Val)
c.2434C>G (p.Leu812Val)
c.2410C>G (p.Leu804Val)
n.2815C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351858C>TCA458542476CLCN1c.2860C>T (p.Leu954=)
n.2800C>T
c.2884C>T (p.Leu962=)
c.1606C>T (p.Leu536=)
c.2434C>T (p.Leu812=)
c.2410C>T (p.Leu804=)
n.2815C>T
7g.143351859T>ACA369653998CLCN1c.2861T>A (p.Leu954Gln)
n.2801T>A
c.2885T>A (p.Leu962Gln)
c.1607T>A (p.Leu536Gln)
c.2435T>A (p.Leu812Gln)
c.2411T>A (p.Leu804Gln)
n.2816T>A
7g.143351859T>CCA369653997CLCN1c.2861T>C (p.Leu954Pro)
n.2801T>C
c.2885T>C (p.Leu962Pro)
c.1607T>C (p.Leu536Pro)
c.2435T>C (p.Leu812Pro)
c.2411T>C (p.Leu804Pro)
n.2816T>C
7g.143351859T>GCA369653996CLCN1c.2861T>G (p.Leu954Arg)
n.2801T>G
c.2885T>G (p.Leu962Arg)
c.1607T>G (p.Leu536Arg)
c.2435T>G (p.Leu812Arg)
c.2411T>G (p.Leu804Arg)
n.2816T>G
7g.143351860G>ACA458542482CLCN1c.2862G>A (p.Leu954=)
n.2802G>A
c.2886G>A (p.Leu962=)
c.1608G>A (p.Leu536=)
c.2436G>A (p.Leu812=)
c.2412G>A (p.Leu804=)
n.2817G>A
 ClinVar
7g.143351860G>CCA458542481CLCN1c.2862G>C (p.Leu954=)
n.2802G>C
c.2886G>C (p.Leu962=)
c.1608G>C (p.Leu536=)
c.2436G>C (p.Leu812=)
c.2412G>C (p.Leu804=)
n.2817G>C
7g.143351860G>TCA458542480CLCN1c.2862G>T (p.Leu954=)
n.2802G>T
c.2886G>T (p.Leu962=)
c.1608G>T (p.Leu536=)
c.2436G>T (p.Leu812=)
c.2412G>T (p.Leu804=)
n.2817G>T
7g.143351861G>ACA168231742CLCN1c.2863G>A (p.Glu955Lys)
n.2803G>A
c.2887G>A (p.Glu963Lys)
c.1609G>A (p.Glu537Lys)
c.2437G>A (p.Glu813Lys)
c.2413G>A (p.Glu805Lys)
n.2818G>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351861G>CCA369653999CLCN1c.2863G>C (p.Glu955Gln)
n.2803G>C
c.2887G>C (p.Glu963Gln)
c.1609G>C (p.Glu537Gln)
c.2437G>C (p.Glu813Gln)
c.2413G>C (p.Glu805Gln)
n.2818G>C
7g.143351861G=CA1748898368CLCN1c.2863G= (p.Glu955=)
n.2803G=
c.2887G= (p.Glu963=)
c.1609G= (p.Glu537=)
c.2437G= (p.Glu813=)
c.2413G= (p.Glu805=)
n.2818G=
7g.143351861G>TCA369654000CLCN1c.2863G>T (p.Glu955Ter)
n.2803G>T
c.2887G>T (p.Glu963Ter)
c.1609G>T (p.Glu537Ter)
c.2437G>T (p.Glu813Ter)
c.2413G>T (p.Glu805Ter)
n.2818G>T
7g.143351862A=CA1748898369CLCN1c.2864A= (p.Glu955=)
n.2804A=
c.2888A= (p.Glu963=)
c.1610A= (p.Glu537=)
c.2438A= (p.Glu813=)
c.2414A= (p.Glu805=)
n.2819A=
7g.143351862A>CCA369654002CLCN1c.2864A>C (p.Glu955Ala)
n.2804A>C
c.2888A>C (p.Glu963Ala)
c.1610A>C (p.Glu537Ala)
c.2438A>C (p.Glu813Ala)
c.2414A>C (p.Glu805Ala)
n.2819A>C
7g.143351862A>GCA168231747CLCN1c.2864A>G (p.Glu955Gly)
n.2804A>G
c.2888A>G (p.Glu963Gly)
c.1610A>G (p.Glu537Gly)
c.2438A>G (p.Glu813Gly)
c.2414A>G (p.Glu805Gly)
n.2819A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351862A>TCA4537805CLCN1c.2864A>T (p.Glu955Val)
n.2804A>T
c.2888A>T (p.Glu963Val)
c.1610A>T (p.Glu537Val)
c.2438A>T (p.Glu813Val)
c.2414A>T (p.Glu805Val)
n.2819A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351863G>ACA4537806CLCN1c.2865G>A (p.Glu955=)
n.2805G>A
c.2889G>A (p.Glu963=)
c.1611G>A (p.Glu537=)
c.2439G>A (p.Glu813=)
c.2415G>A (p.Glu805=)
n.2820G>A
 dbSNP ExAC gnomAD v2
7g.143351863G>CCA369654006CLCN1c.2865G>C (p.Glu955Asp)
n.2805G>C
c.2889G>C (p.Glu963Asp)
c.1611G>C (p.Glu537Asp)
c.2439G>C (p.Glu813Asp)
c.2415G>C (p.Glu805Asp)
n.2820G>C
7g.143351863G=CA1748898370CLCN1c.2865G= (p.Glu955=)
n.2805G=
c.2889G= (p.Glu963=)
c.1611G= (p.Glu537=)
c.2439G= (p.Glu813=)
c.2415G= (p.Glu805=)
n.2820G=
7g.143351863G>TCA369654004CLCN1c.2865G>T (p.Glu955Asp)
n.2805G>T
c.2889G>T (p.Glu963Asp)
c.1611G>T (p.Glu537Asp)
c.2439G>T (p.Glu813Asp)
c.2415G>T (p.Glu805Asp)
n.2820G>T
7g.143351864C>ACA369654008CLCN1c.2866C>A (p.Leu956Met)
n.2806C>A
c.2890C>A (p.Leu964Met)
c.1612C>A (p.Leu538Met)
c.2440C>A (p.Leu814Met)
c.2416C>A (p.Leu806Met)
n.2821C>A
7g.143351864C>GCA369654009CLCN1c.2866C>G (p.Leu956Val)
n.2806C>G
c.2890C>G (p.Leu964Val)
c.1612C>G (p.Leu538Val)
c.2440C>G (p.Leu814Val)
c.2416C>G (p.Leu806Val)
n.2821C>G
7g.143351864C>TCA458542483CLCN1c.2866C>T (p.Leu956=)
n.2806C>T
c.2890C>T (p.Leu964=)
c.1612C>T (p.Leu538=)
c.2440C>T (p.Leu814=)
c.2416C>T (p.Leu806=)
n.2821C>T
7g.143351865T>ACA369654010CLCN1c.2867T>A (p.Leu956Gln)
n.2807T>A
c.2891T>A (p.Leu964Gln)
c.1613T>A (p.Leu538Gln)
c.2441T>A (p.Leu814Gln)
c.2417T>A (p.Leu806Gln)
n.2822T>A
7g.143351865T>CCA369654011CLCN1c.2867T>C (p.Leu956Pro)
n.2807T>C
c.2891T>C (p.Leu964Pro)
c.1613T>C (p.Leu538Pro)
c.2441T>C (p.Leu814Pro)
c.2417T>C (p.Leu806Pro)
n.2822T>C
7g.143351865T>GCA369654012CLCN1c.2867T>G (p.Leu956Arg)
n.2807T>G
c.2891T>G (p.Leu964Arg)
c.1613T>G (p.Leu538Arg)
c.2441T>G (p.Leu814Arg)
c.2417T>G (p.Leu806Arg)
n.2822T>G
7g.143351866G>ACA168231762CLCN1c.2868G>A (p.Leu956=)
n.2808G>A
c.2892G>A (p.Leu964=)
c.1614G>A (p.Leu538=)
c.2442G>A (p.Leu814=)
c.2418G>A (p.Leu806=)
n.2823G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G>CCA458542487CLCN1c.2868G>C (p.Leu956=)
n.2808G>C
c.2892G>C (p.Leu964=)
c.1614G>C (p.Leu538=)
c.2442G>C (p.Leu814=)
c.2418G>C (p.Leu806=)
n.2823G>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351866G=CA1748898371CLCN1c.2868G= (p.Leu956=)
n.2808G=
c.2892G= (p.Leu964=)
c.1614G= (p.Leu538=)
c.2442G= (p.Leu814=)
c.2418G= (p.Leu806=)
n.2823G=
7g.143351866G>TCA458542489CLCN1c.2868G>T (p.Leu956=)
n.2808G>T
c.2892G>T (p.Leu964=)
c.1614G>T (p.Leu538=)
c.2442G>T (p.Leu814=)
c.2418G>T (p.Leu806=)
n.2823G>T

Number of alleles fetched