Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.143351867G>ACA4537807CLCN1c.2869G>A (p.Val957Met)
n.2809G>A
c.2893G>A (p.Val965Met)
c.1615G>A (p.Val539Met)
c.2443G>A (p.Val815Met)
c.2419G>A (p.Val807Met)
n.2824G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351867G>CCA369654021CLCN1c.2869G>C (p.Val957Leu)
n.2809G>C
c.2893G>C (p.Val965Leu)
c.1615G>C (p.Val539Leu)
c.2443G>C (p.Val815Leu)
c.2419G>C (p.Val807Leu)
n.2824G>C
 gnomAD v4
7g.143351867G=CA1748898372CLCN1c.2869G= (p.Val957=)
n.2809G=
c.2893G= (p.Val965=)
c.1615G= (p.Val539=)
c.2443G= (p.Val815=)
c.2419G= (p.Val807=)
n.2824G=
7g.143351867G>TCA369654015CLCN1c.2869G>T (p.Val957Leu)
n.2809G>T
c.2893G>T (p.Val965Leu)
c.1615G>T (p.Val539Leu)
c.2443G>T (p.Val815Leu)
c.2419G>T (p.Val807Leu)
n.2824G>T
 gnomAD v4
7g.143351868T>ACA369654023CLCN1c.2870T>A (p.Val957Glu)
n.2810T>A
c.2894T>A (p.Val965Glu)
c.1616T>A (p.Val539Glu)
c.2444T>A (p.Val815Glu)
c.2420T>A (p.Val807Glu)
n.2825T>A
7g.143351868T>CCA369654024CLCN1c.2870T>C (p.Val957Ala)
n.2810T>C
c.2894T>C (p.Val965Ala)
c.1616T>C (p.Val539Ala)
c.2444T>C (p.Val815Ala)
c.2420T>C (p.Val807Ala)
n.2825T>C
 dbSNP gnomAD v4
7g.143351868T>GCA369654026CLCN1c.2870T>G (p.Val957Gly)
n.2810T>G
c.2894T>G (p.Val965Gly)
c.1616T>G (p.Val539Gly)
c.2444T>G (p.Val815Gly)
c.2420T>G (p.Val807Gly)
n.2825T>G
7g.143351868T=CA1748898373CLCN1c.2870T= (p.Val957=)
n.2810T=
c.2894T= (p.Val965=)
c.1616T= (p.Val539=)
c.2444T= (p.Val815=)
c.2420T= (p.Val807=)
n.2825T=
7g.143351869G>ACA458542498CLCN1c.2871G>A (p.Val957=)
n.2811G>A
c.2895G>A (p.Val965=)
c.1617G>A (p.Val539=)
c.2445G>A (p.Val815=)
c.2421G>A (p.Val807=)
n.2826G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351869G>CCA458542499CLCN1c.2871G>C (p.Val957=)
n.2811G>C
c.2895G>C (p.Val965=)
c.1617G>C (p.Val539=)
c.2445G>C (p.Val815=)
c.2421G>C (p.Val807=)
n.2826G>C
7g.143351869G=CA1748898374CLCN1c.2871G= (p.Val957=)
n.2811G=
c.2895G= (p.Val965=)
c.1617G= (p.Val539=)
c.2445G= (p.Val815=)
c.2421G= (p.Val807=)
n.2826G=
7g.143351869G>TCA458542500CLCN1c.2871G>T (p.Val957=)
n.2811G>T
c.2895G>T (p.Val965=)
c.1617G>T (p.Val539=)
c.2445G>T (p.Val815=)
c.2421G>T (p.Val807=)
n.2826G>T
7g.143351870G>ACA369654028CLCN1c.2872G>A (p.Glu958Lys)
n.2812G>A
c.2896G>A (p.Glu966Lys)
c.1618G>A (p.Glu540Lys)
c.2446G>A (p.Glu816Lys)
c.2422G>A (p.Glu808Lys)
n.2827G>A
 gnomAD v4
7g.143351870G>CCA369654029CLCN1c.2872G>C (p.Glu958Gln)
n.2812G>C
c.2896G>C (p.Glu966Gln)
c.1618G>C (p.Glu540Gln)
c.2446G>C (p.Glu816Gln)
c.2422G>C (p.Glu808Gln)
n.2827G>C
7g.143351870G=CA1748898375CLCN1c.2872G= (p.Glu958=)
n.2812G=
c.2896G= (p.Glu966=)
c.1618G= (p.Glu540=)
c.2446G= (p.Glu816=)
c.2422G= (p.Glu808=)
n.2827G=
7g.143351870G>TCA4537808CLCN1c.2872G>T (p.Glu958Ter)
n.2812G>T
c.2896G>T (p.Glu966Ter)
c.1618G>T (p.Glu540Ter)
c.2446G>T (p.Glu816Ter)
c.2422G>T (p.Glu808Ter)
n.2827G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351871A>CCA369654032CLCN1c.2873A>C (p.Glu958Ala)
n.2813A>C
c.2897A>C (p.Glu966Ala)
c.1619A>C (p.Glu540Ala)
c.2447A>C (p.Glu816Ala)
c.2423A>C (p.Glu808Ala)
n.2828A>C
7g.143351871A>GCA369654034CLCN1c.2873A>G (p.Glu958Gly)
n.2813A>G
c.2897A>G (p.Glu966Gly)
c.1619A>G (p.Glu540Gly)
c.2447A>G (p.Glu816Gly)
c.2423A>G (p.Glu808Gly)
n.2828A>G
7g.143351871A>TCA369654035CLCN1c.2873A>T (p.Glu958Val)
n.2813A>T
c.2897A>T (p.Glu966Val)
c.1619A>T (p.Glu540Val)
c.2447A>T (p.Glu816Val)
c.2423A>T (p.Glu808Val)
n.2828A>T
7g.143351872G>ACA458542503CLCN1c.2874G>A (p.Glu958=)
n.2814G>A
c.2898G>A (p.Glu966=)
c.1620G>A (p.Glu540=)
c.2448G>A (p.Glu816=)
c.2424G>A (p.Glu808=)
n.2829G>A
 ClinVar dbSNP
7g.143351872G>CCA369654037CLCN1c.2874G>C (p.Glu958Asp)
n.2814G>C
c.2898G>C (p.Glu966Asp)
c.1620G>C (p.Glu540Asp)
c.2448G>C (p.Glu816Asp)
c.2424G>C (p.Glu808Asp)
n.2829G>C
7g.143351872G=CA1748898376CLCN1c.2874G= (p.Glu958=)
n.2814G=
c.2898G= (p.Glu966=)
c.1620G= (p.Glu540=)
c.2448G= (p.Glu816=)
c.2424G= (p.Glu808=)
n.2829G=
7g.143351872G>TCA369654039CLCN1c.2874G>T (p.Glu958Asp)
n.2814G>T
c.2898G>T (p.Glu966Asp)
c.1620G>T (p.Glu540Asp)
c.2448G>T (p.Glu816Asp)
c.2424G>T (p.Glu808Asp)
n.2829G>T
7g.143351873A=CA1748898377CLCN1c.2875A= (p.Ser959=)
n.2815A=
c.2899A= (p.Ser967=)
c.1621A= (p.Ser541=)
c.2449A= (p.Ser817=)
c.2425A= (p.Ser809=)
n.2830A=
7g.143351873A>CCA369654042CLCN1c.2875A>C (p.Ser959Arg)
n.2815A>C
c.2899A>C (p.Ser967Arg)
c.1621A>C (p.Ser541Arg)
c.2449A>C (p.Ser817Arg)
c.2425A>C (p.Ser809Arg)
n.2830A>C
7g.143351873A>GCA4537809CLCN1c.2875A>G (p.Ser959Gly)
n.2815A>G
c.2899A>G (p.Ser967Gly)
c.1621A>G (p.Ser541Gly)
c.2449A>G (p.Ser817Gly)
c.2425A>G (p.Ser809Gly)
n.2830A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351873A>TCA369654040CLCN1c.2875A>T (p.Ser959Cys)
n.2815A>T
c.2899A>T (p.Ser967Cys)
c.1621A>T (p.Ser541Cys)
c.2449A>T (p.Ser817Cys)
c.2425A>T (p.Ser809Cys)
n.2830A>T
7g.143351874G>ACA369654045CLCN1c.2876G>A (p.Ser959Asn)
n.2816G>A
c.2900G>A (p.Ser967Asn)
c.1622G>A (p.Ser541Asn)
c.2450G>A (p.Ser817Asn)
c.2426G>A (p.Ser809Asn)
n.2831G>A
 gnomAD v4
7g.143351874G>CCA369654046CLCN1c.2876G>C (p.Ser959Thr)
n.2816G>C
c.2900G>C (p.Ser967Thr)
c.1622G>C (p.Ser541Thr)
c.2450G>C (p.Ser817Thr)
c.2426G>C (p.Ser809Thr)
n.2831G>C
7g.143351874G>TCA369654048CLCN1c.2876G>T (p.Ser959Ile)
n.2816G>T
c.2900G>T (p.Ser967Ile)
c.1622G>T (p.Ser541Ile)
c.2450G>T (p.Ser817Ile)
c.2426G>T (p.Ser809Ile)
n.2831G>T
7g.143351875T>ACA369654050CLCN1c.2877T>A (p.Ser959Arg)
n.2817T>A
c.2901T>A (p.Ser967Arg)
c.1623T>A (p.Ser541Arg)
c.2451T>A (p.Ser817Arg)
c.2427T>A (p.Ser809Arg)
n.2832T>A
7g.143351875T>CCA458542509CLCN1c.2877T>C (p.Ser959=)
n.2817T>C
c.2901T>C (p.Ser967=)
c.1623T>C (p.Ser541=)
c.2451T>C (p.Ser817=)
c.2427T>C (p.Ser809=)
n.2832T>C
7g.143351875T>GCA369654052CLCN1c.2877T>G (p.Ser959Arg)
n.2817T>G
c.2901T>G (p.Ser967Arg)
c.1623T>G (p.Ser541Arg)
c.2451T>G (p.Ser817Arg)
c.2427T>G (p.Ser809Arg)
n.2832T>G
7g.143351876C>ACA369654057CLCN1c.2878C>A (p.Pro960Thr)
n.2818C>A
c.2902C>A (p.Pro968Thr)
c.1624C>A (p.Pro542Thr)
c.2452C>A (p.Pro818Thr)
c.2428C>A (p.Pro810Thr)
n.2833C>A
7g.143351876C>GCA369654056CLCN1c.2878C>G (p.Pro960Ala)
n.2818C>G
c.2902C>G (p.Pro968Ala)
c.1624C>G (p.Pro542Ala)
c.2452C>G (p.Pro818Ala)
c.2428C>G (p.Pro810Ala)
n.2833C>G
 gnomAD v4
7g.143351876C>TCA369654054CLCN1c.2878C>T (p.Pro960Ser)
n.2818C>T
c.2902C>T (p.Pro968Ser)
c.1624C>T (p.Pro542Ser)
c.2452C>T (p.Pro818Ser)
c.2428C>T (p.Pro810Ser)
n.2833C>T
7g.143351877C>ACA369654060CLCN1c.2879C>A (p.Pro960Gln)
n.2819C>A
c.2903C>A (p.Pro968Gln)
c.1625C>A (p.Pro542Gln)
c.2453C>A (p.Pro818Gln)
c.2429C>A (p.Pro810Gln)
n.2834C>A
7g.143351877C=CA1748898378CLCN1c.2879C= (p.Pro960=)
n.2819C=
c.2903C= (p.Pro968=)
c.1625C= (p.Pro542=)
c.2453C= (p.Pro818=)
c.2429C= (p.Pro810=)
n.2834C=
7g.143351877C>GCA369654061CLCN1c.2879C>G (p.Pro960Arg)
n.2819C>G
c.2903C>G (p.Pro968Arg)
c.1625C>G (p.Pro542Arg)
c.2453C>G (p.Pro818Arg)
c.2429C>G (p.Pro810Arg)
n.2834C>G
 dbSNP
7g.143351877C>TCA369654062CLCN1c.2879C>T (p.Pro960Leu)
n.2819C>T
c.2903C>T (p.Pro968Leu)
c.1625C>T (p.Pro542Leu)
c.2453C>T (p.Pro818Leu)
c.2429C>T (p.Pro810Leu)
n.2834C>T
7g.143351878A=CA1748898379CLCN1c.2880A= (p.Pro960=)
n.2820A=
c.2904A= (p.Pro968=)
c.1626A= (p.Pro542=)
c.2454A= (p.Pro818=)
c.2430A= (p.Pro810=)
n.2835A=
7g.143351878A>CCA458542513CLCN1c.2880A>C (p.Pro960=)
n.2820A>C
c.2904A>C (p.Pro968=)
c.1626A>C (p.Pro542=)
c.2454A>C (p.Pro818=)
c.2430A>C (p.Pro810=)
n.2835A>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351878A>GCA458542515CLCN1c.2880A>G (p.Pro960=)
n.2820A>G
c.2904A>G (p.Pro968=)
c.1626A>G (p.Pro542=)
c.2454A>G (p.Pro818=)
c.2430A>G (p.Pro810=)
n.2835A>G
 ClinVar
7g.143351878A>TCA458542516CLCN1c.2880A>T (p.Pro960=)
n.2820A>T
c.2904A>T (p.Pro968=)
c.1626A>T (p.Pro542=)
c.2454A>T (p.Pro818=)
c.2430A>T (p.Pro810=)
n.2835A>T
7g.143351879G>ACA369654064CLCN1c.2881G>A (p.Gly961Arg)
n.2821G>A
c.2905G>A (p.Gly969Arg)
c.1627G>A (p.Gly543Arg)
c.2455G>A (p.Gly819Arg)
c.2431G>A (p.Gly811Arg)
n.2836G>A
7g.143351879G>CCA369654065CLCN1c.2881G>C (p.Gly961Arg)
n.2821G>C
c.2905G>C (p.Gly969Arg)
c.1627G>C (p.Gly543Arg)
c.2455G>C (p.Gly819Arg)
c.2431G>C (p.Gly811Arg)
n.2836G>C
 dbSNP COSMIC
7g.143351879G=CA1748898380CLCN1c.2881G= (p.Gly961=)
n.2821G=
c.2905G= (p.Gly969=)
c.1627G= (p.Gly543=)
c.2455G= (p.Gly819=)
c.2431G= (p.Gly811=)
n.2836G=
7g.143351879G>TCA369654067CLCN1c.2881G>T (p.Gly961Trp)
n.2821G>T
c.2905G>T (p.Gly969Trp)
c.1627G>T (p.Gly543Trp)
c.2455G>T (p.Gly819Trp)
c.2431G>T (p.Gly811Trp)
n.2836G>T
 COSMIC
7g.143351880G>ACA369654072CLCN1c.2882G>A (p.Gly961Glu)
n.2822G>A
c.2906G>A (p.Gly969Glu)
c.1628G>A (p.Gly543Glu)
c.2456G>A (p.Gly819Glu)
c.2432G>A (p.Gly811Glu)
n.2837G>A
 ClinVar dbSNP
7g.143351880G>CCA369654069CLCN1c.2882G>C (p.Gly961Ala)
n.2822G>C
c.2906G>C (p.Gly969Ala)
c.1628G>C (p.Gly543Ala)
c.2456G>C (p.Gly819Ala)
c.2432G>C (p.Gly811Ala)
n.2837G>C
7g.143351880G=CA1748898381CLCN1c.2882G= (p.Gly961=)
n.2822G=
c.2906G= (p.Gly969=)
c.1628G= (p.Gly543=)
c.2456G= (p.Gly819=)
c.2432G= (p.Gly811=)
n.2837G=
7g.143351880G>TCA369654070CLCN1c.2882G>T (p.Gly961Val)
n.2822G>T
c.2906G>T (p.Gly969Val)
c.1628G>T (p.Gly543Val)
c.2456G>T (p.Gly819Val)
c.2432G>T (p.Gly811Val)
n.2837G>T
7g.143351881G>ACA458542521CLCN1c.2883G>A (p.Gly961=)
n.2823G>A
c.2907G>A (p.Gly969=)
c.1629G>A (p.Gly543=)
c.2457G>A (p.Gly819=)
c.2433G>A (p.Gly811=)
n.2838G>A
 dbSNP gnomAD v4
7g.143351881G>CCA16605144CLCN1c.2883G>C (p.Gly961=)
n.2823G>C
c.2907G>C (p.Gly969=)
c.1629G>C (p.Gly543=)
c.2457G>C (p.Gly819=)
c.2433G>C (p.Gly811=)
n.2838G>C
 ClinVar dbSNP
7g.143351881G=CA1748898382CLCN1c.2883G= (p.Gly961=)
n.2823G=
c.2907G= (p.Gly969=)
c.1629G= (p.Gly543=)
c.2457G= (p.Gly819=)
c.2433G= (p.Gly811=)
n.2838G=
7g.143351881G>TCA458542520CLCN1c.2883G>T (p.Gly961=)
n.2823G>T
c.2907G>T (p.Gly969=)
c.1629G>T (p.Gly543=)
c.2457G>T (p.Gly819=)
c.2433G>T (p.Gly811=)
n.2838G>T
7g.143351882C>ACA369654075CLCN1c.2884C>A (p.Leu962Met)
n.2824C>A
c.2908C>A (p.Leu970Met)
c.1630C>A (p.Leu544Met)
c.2458C>A (p.Leu820Met)
c.2434C>A (p.Leu812Met)
n.2839C>A
 gnomAD v4
7g.143351882C>GCA369654077CLCN1c.2884C>G (p.Leu962Val)
n.2824C>G
c.2908C>G (p.Leu970Val)
c.1630C>G (p.Leu544Val)
c.2458C>G (p.Leu820Val)
c.2434C>G (p.Leu812Val)
n.2839C>G
7g.143351882C>TCA458542527CLCN1c.2884C>T (p.Leu962=)
n.2824C>T
c.2908C>T (p.Leu970=)
c.1630C>T (p.Leu544=)
c.2458C>T (p.Leu820=)
c.2434C>T (p.Leu812=)
n.2839C>T
 gnomAD v4
7g.143351883T>ACA369654079CLCN1c.2885T>A (p.Leu962Gln)
n.2825T>A
c.2909T>A (p.Leu970Gln)
c.1631T>A (p.Leu544Gln)
c.2459T>A (p.Leu820Gln)
c.2435T>A (p.Leu812Gln)
n.2840T>A
7g.143351883T>CCA369654080CLCN1c.2885T>C (p.Leu962Pro)
n.2825T>C
c.2909T>C (p.Leu970Pro)
c.1631T>C (p.Leu544Pro)
c.2459T>C (p.Leu820Pro)
c.2435T>C (p.Leu812Pro)
n.2840T>C
7g.143351883T>GCA369654081CLCN1c.2885T>G (p.Leu962Arg)
n.2825T>G
c.2909T>G (p.Leu970Arg)
c.1631T>G (p.Leu544Arg)
c.2459T>G (p.Leu820Arg)
c.2435T>G (p.Leu812Arg)
n.2840T>G
7g.143351884G>ACA458542534CLCN1c.2886G>A (p.Leu962=)
n.2826G>A
c.2910G>A (p.Leu970=)
c.1632G>A (p.Leu544=)
c.2460G>A (p.Leu820=)
c.2436G>A (p.Leu812=)
n.2841G>A
 gnomAD v4 COSMIC
7g.143351884G>CCA458542535CLCN1c.2886G>C (p.Leu962=)
n.2826G>C
c.2910G>C (p.Leu970=)
c.1632G>C (p.Leu544=)
c.2460G>C (p.Leu820=)
c.2436G>C (p.Leu812=)
n.2841G>C
7g.143351884G>TCA458542537CLCN1c.2886G>T (p.Leu962=)
n.2826G>T
c.2910G>T (p.Leu970=)
c.1632G>T (p.Leu544=)
c.2460G>T (p.Leu820=)
c.2436G>T (p.Leu812=)
n.2841G>T
7g.143351885G>ACA369654083CLCN1c.2887G>A (p.Glu963Lys)
n.2827G>A
c.2911G>A (p.Glu971Lys)
c.1633G>A (p.Glu545Lys)
c.2461G>A (p.Glu821Lys)
c.2437G>A (p.Glu813Lys)
n.2842G>A
 dbSNP
7g.143351885G>CCA369654085CLCN1c.2887G>C (p.Glu963Gln)
n.2827G>C
c.2911G>C (p.Glu971Gln)
c.1633G>C (p.Glu545Gln)
c.2461G>C (p.Glu821Gln)
c.2437G>C (p.Glu813Gln)
n.2842G>C
7g.143351885G=CA1748898383CLCN1c.2887G= (p.Glu963=)
n.2827G=
c.2911G= (p.Glu971=)
c.1633G= (p.Glu545=)
c.2461G= (p.Glu821=)
c.2437G= (p.Glu813=)
n.2842G=
7g.143351885G>TCA369654086CLCN1c.2887G>T (p.Glu963Ter)
n.2827G>T
c.2911G>T (p.Glu971Ter)
c.1633G>T (p.Glu545Ter)
c.2461G>T (p.Glu821Ter)
c.2437G>T (p.Glu813Ter)
n.2842G>T
7g.143351886A>CCA369654088CLCN1c.2888A>C (p.Glu963Ala)
n.2828A>C
c.2912A>C (p.Glu971Ala)
c.1634A>C (p.Glu545Ala)
c.2462A>C (p.Glu821Ala)
c.2438A>C (p.Glu813Ala)
n.2843A>C
7g.143351886A>GCA369654089CLCN1c.2888A>G (p.Glu963Gly)
n.2828A>G
c.2912A>G (p.Glu971Gly)
c.1634A>G (p.Glu545Gly)
c.2462A>G (p.Glu821Gly)
c.2438A>G (p.Glu813Gly)
n.2843A>G
7g.143351886A>TCA369654091CLCN1c.2888A>T (p.Glu963Val)
n.2828A>T
c.2912A>T (p.Glu971Val)
c.1634A>T (p.Glu545Val)
c.2462A>T (p.Glu821Val)
c.2438A>T (p.Glu813Val)
n.2843A>T
7g.143351887A=CA1748898384CLCN1c.2889A= (p.Glu963=)
n.2829A=
c.2913A= (p.Glu971=)
c.1635A= (p.Glu545=)
c.2463A= (p.Glu821=)
c.2439A= (p.Glu813=)
n.2844A=
7g.143351887A>CCA369654093CLCN1c.2889A>C (p.Glu963Asp)
n.2829A>C
c.2913A>C (p.Glu971Asp)
c.1635A>C (p.Glu545Asp)
c.2463A>C (p.Glu821Asp)
c.2439A>C (p.Glu813Asp)
n.2844A>C
 dbSNP
7g.143351887A>GCA458542543CLCN1c.2889A>G (p.Glu963=)
n.2829A>G
c.2913A>G (p.Glu971=)
c.1635A>G (p.Glu545=)
c.2463A>G (p.Glu821=)
c.2439A>G (p.Glu813=)
n.2844A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351887A>TCA369654095CLCN1c.2889A>T (p.Glu963Asp)
n.2829A>T
c.2913A>T (p.Glu971Asp)
c.1635A>T (p.Glu545Asp)
c.2463A>T (p.Glu821Asp)
c.2439A>T (p.Glu813Asp)
n.2844A>T
7g.143351888G>ACA369654099CLCN1c.2890G>A (p.Glu964Lys)
n.2830G>A
c.2914G>A (p.Glu972Lys)
c.1636G>A (p.Glu546Lys)
c.2464G>A (p.Glu822Lys)
c.2440G>A (p.Glu814Lys)
n.2845G>A
 gnomAD v4
7g.143351888G>CCA4537810CLCN1c.2890G>C (p.Glu964Gln)
n.2830G>C
c.2914G>C (p.Glu972Gln)
c.1636G>C (p.Glu546Gln)
c.2464G>C (p.Glu822Gln)
c.2440G>C (p.Glu814Gln)
n.2845G>C
 dbSNP ExAC gnomAD v2 gnomAD v3
7g.143351888G=CA1748898385CLCN1c.2890G= (p.Glu964=)
n.2830G=
c.2914G= (p.Glu972=)
c.1636G= (p.Glu546=)
c.2464G= (p.Glu822=)
c.2440G= (p.Glu814=)
n.2845G=
7g.143351888G>TCA369654097CLCN1c.2890G>T (p.Glu964Ter)
n.2830G>T
c.2914G>T (p.Glu972Ter)
c.1636G>T (p.Glu546Ter)
c.2464G>T (p.Glu822Ter)
c.2440G>T (p.Glu814Ter)
n.2845G>T
7g.143351889A>CCA369654101CLCN1c.2891A>C (p.Glu964Ala)
n.2831A>C
c.2915A>C (p.Glu972Ala)
c.1637A>C (p.Glu546Ala)
c.2465A>C (p.Glu822Ala)
c.2441A>C (p.Glu814Ala)
n.2846A>C
7g.143351889A>GCA369654105CLCN1c.2891A>G (p.Glu964Gly)
n.2831A>G
c.2915A>G (p.Glu972Gly)
c.1637A>G (p.Glu546Gly)
c.2465A>G (p.Glu822Gly)
c.2441A>G (p.Glu814Gly)
n.2846A>G
7g.143351889A>TCA369654107CLCN1c.2891A>T (p.Glu964Val)
n.2831A>T
c.2915A>T (p.Glu972Val)
c.1637A>T (p.Glu546Val)
c.2465A>T (p.Glu822Val)
c.2441A>T (p.Glu814Val)
n.2846A>T
7g.143351890G>ACA458542547CLCN1c.2892G>A (p.Glu964=)
n.2832G>A
c.2916G>A (p.Glu972=)
c.1638G>A (p.Glu546=)
c.2466G>A (p.Glu822=)
c.2442G>A (p.Glu814=)
n.2847G>A
 ClinVar
7g.143351890G>CCA369654109CLCN1c.2892G>C (p.Glu964Asp)
n.2832G>C
c.2916G>C (p.Glu972Asp)
c.1638G>C (p.Glu546Asp)
c.2466G>C (p.Glu822Asp)
c.2442G>C (p.Glu814Asp)
n.2847G>C
7g.143351890G>TCA369654110CLCN1c.2892G>T (p.Glu964Asp)
n.2832G>T
c.2916G>T (p.Glu972Asp)
c.1638G>T (p.Glu546Asp)
c.2466G>T (p.Glu822Asp)
c.2442G>T (p.Glu814Asp)
n.2847G>T
7g.143351891G>ACA369654111CLCN1c.2893G>A (p.Glu965Lys)
n.2833G>A
c.2917G>A (p.Glu973Lys)
c.1639G>A (p.Glu547Lys)
c.2467G>A (p.Glu823Lys)
c.2443G>A (p.Glu815Lys)
n.2848G>A
7g.143351891G>CCA369654113CLCN1c.2893G>C (p.Glu965Gln)
n.2833G>C
c.2917G>C (p.Glu973Gln)
c.1639G>C (p.Glu547Gln)
c.2467G>C (p.Glu823Gln)
c.2443G>C (p.Glu815Gln)
n.2848G>C
7g.143351891G>TCA369654115CLCN1c.2893G>T (p.Glu965Ter)
n.2833G>T
c.2917G>T (p.Glu973Ter)
c.1639G>T (p.Glu547Ter)
c.2467G>T (p.Glu823Ter)
c.2443G>T (p.Glu815Ter)
n.2848G>T
7g.143351892A>CCA369654117CLCN1c.2894A>C (p.Glu965Ala)
n.2834A>C
c.2918A>C (p.Glu973Ala)
c.1640A>C (p.Glu547Ala)
c.2468A>C (p.Glu823Ala)
c.2444A>C (p.Glu815Ala)
n.2849A>C
7g.143351892A>GCA369654118CLCN1c.2894A>G (p.Glu965Gly)
n.2834A>G
c.2918A>G (p.Glu973Gly)
c.1640A>G (p.Glu547Gly)
c.2468A>G (p.Glu823Gly)
c.2444A>G (p.Glu815Gly)
n.2849A>G
7g.143351892A>TCA369654120CLCN1c.2894A>T (p.Glu965Val)
n.2834A>T
c.2918A>T (p.Glu973Val)
c.1640A>T (p.Glu547Val)
c.2468A>T (p.Glu823Val)
c.2444A>T (p.Glu815Val)
n.2849A>T
7g.143351893G>ACA458542552CLCN1c.2895G>A (p.Glu965=)
n.2835G>A
c.2919G>A (p.Glu973=)
c.1641G>A (p.Glu547=)
c.2469G>A (p.Glu823=)
c.2445G>A (p.Glu815=)
n.2850G>A
7g.143351893G>CCA369654122CLCN1c.2895G>C (p.Glu965Asp)
n.2835G>C
c.2919G>C (p.Glu973Asp)
c.1641G>C (p.Glu547Asp)
c.2469G>C (p.Glu823Asp)
c.2445G>C (p.Glu815Asp)
n.2850G>C
 gnomAD v4
7g.143351893G>TCA369654123CLCN1c.2895G>T (p.Glu965Asp)
n.2835G>T
c.2919G>T (p.Glu973Asp)
c.1641G>T (p.Glu547Asp)
c.2469G>T (p.Glu823Asp)
c.2445G>T (p.Glu815Asp)
n.2850G>T
7g.143351894C>ACA369654127CLCN1c.2896C>A (p.Leu966Met)
n.2836C>A
c.2920C>A (p.Leu974Met)
c.1642C>A (p.Leu548Met)
c.2470C>A (p.Leu824Met)
c.2446C>A (p.Leu816Met)
n.2851C>A
7g.143351894C=CA1748898386CLCN1c.2896C= (p.Leu966=)
n.2836C=
c.2920C= (p.Leu974=)
c.1642C= (p.Leu548=)
c.2470C= (p.Leu824=)
c.2446C= (p.Leu816=)
n.2851C=
7g.143351894C>GCA369654126CLCN1c.2896C>G (p.Leu966Val)
n.2836C>G
c.2920C>G (p.Leu974Val)
c.1642C>G (p.Leu548Val)
c.2470C>G (p.Leu824Val)
c.2446C>G (p.Leu816Val)
n.2851C>G
 ClinVar dbSNP
7g.143351894C>TCA4537811CLCN1c.2896C>T (p.Leu966=)
n.2836C>T
c.2920C>T (p.Leu974=)
c.1642C>T (p.Leu548=)
c.2470C>T (p.Leu824=)
c.2446C>T (p.Leu816=)
n.2851C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351895T>ACA369654129CLCN1c.2897T>A (p.Leu966Gln)
n.2837T>A
c.2921T>A (p.Leu974Gln)
c.1643T>A (p.Leu548Gln)
c.2471T>A (p.Leu824Gln)
c.2447T>A (p.Leu816Gln)
n.2852T>A
7g.143351895T>CCA369654130CLCN1c.2897T>C (p.Leu966Pro)
n.2837T>C
c.2921T>C (p.Leu974Pro)
c.1643T>C (p.Leu548Pro)
c.2471T>C (p.Leu824Pro)
c.2447T>C (p.Leu816Pro)
n.2852T>C
7g.143351895T>GCA369654132CLCN1c.2897T>G (p.Leu966Arg)
n.2837T>G
c.2921T>G (p.Leu974Arg)
c.1643T>G (p.Leu548Arg)
c.2471T>G (p.Leu824Arg)
c.2447T>G (p.Leu816Arg)
n.2852T>G
7g.143351896G>ACA458542560CLCN1c.2898G>A (p.Leu966=)
n.2838G>A
c.2922G>A (p.Leu974=)
c.1644G>A (p.Leu548=)
c.2472G>A (p.Leu824=)
c.2448G>A (p.Leu816=)
n.2853G>A
 ClinVar gnomAD v4
7g.143351896G>CCA458542562CLCN1c.2898G>C (p.Leu966=)
n.2838G>C
c.2922G>C (p.Leu974=)
c.1644G>C (p.Leu548=)
c.2472G>C (p.Leu824=)
c.2448G>C (p.Leu816=)
n.2853G>C
7g.143351896G>TCA458542563CLCN1c.2898G>T (p.Leu966=)
n.2838G>T
c.2922G>T (p.Leu974=)
c.1644G>T (p.Leu548=)
c.2472G>T (p.Leu824=)
c.2448G>T (p.Leu816=)
n.2853G>T
7g.143351897G>ACA369654134CLCN1c.2899G>A (p.Ala967Thr)
n.2839G>A
c.2923G>A (p.Ala975Thr)
c.1645G>A (p.Ala549Thr)
c.2473G>A (p.Ala825Thr)
c.2449G>A (p.Ala817Thr)
n.2854G>A
 gnomAD v4
7g.143351897G>CCA369654136CLCN1c.2899G>C (p.Ala967Pro)
n.2839G>C
c.2923G>C (p.Ala975Pro)
c.1645G>C (p.Ala549Pro)
c.2473G>C (p.Ala825Pro)
c.2449G>C (p.Ala817Pro)
n.2854G>C
7g.143351897G>TCA369654137CLCN1c.2899G>T (p.Ala967Ser)
n.2839G>T
c.2923G>T (p.Ala975Ser)
c.1645G>T (p.Ala549Ser)
c.2473G>T (p.Ala825Ser)
c.2449G>T (p.Ala817Ser)
n.2854G>T
7g.143351898C>ACA369654139CLCN1c.2900C>A (p.Ala967Asp)
n.2840C>A
c.2924C>A (p.Ala975Asp)
c.1646C>A (p.Ala549Asp)
c.2474C>A (p.Ala825Asp)
c.2450C>A (p.Ala817Asp)
n.2855C>A
7g.143351898C>GCA369654140CLCN1c.2900C>G (p.Ala967Gly)
n.2840C>G
c.2924C>G (p.Ala975Gly)
c.1646C>G (p.Ala549Gly)
c.2474C>G (p.Ala825Gly)
c.2450C>G (p.Ala817Gly)
n.2855C>G
7g.143351898C>TCA369654141CLCN1c.2900C>T (p.Ala967Val)
n.2840C>T
c.2924C>T (p.Ala975Val)
c.1646C>T (p.Ala549Val)
c.2474C>T (p.Ala825Val)
c.2450C>T (p.Ala817Val)
n.2855C>T
 gnomAD v4
7g.143351899C>ACA458542568CLCN1c.2901C>A (p.Ala967=)
n.2841C>A
c.2925C>A (p.Ala975=)
c.1647C>A (p.Ala549=)
c.2475C>A (p.Ala825=)
c.2451C>A (p.Ala817=)
n.2856C>A
 ClinVar dbSNP
7g.143351899C=CA1748898387CLCN1c.2901C= (p.Ala967=)
n.2841C=
c.2925C= (p.Ala975=)
c.1647C= (p.Ala549=)
c.2475C= (p.Ala825=)
c.2451C= (p.Ala817=)
n.2856C=
7g.143351899C>GCA458542569CLCN1c.2901C>G (p.Ala967=)
n.2841C>G
c.2925C>G (p.Ala975=)
c.1647C>G (p.Ala549=)
c.2475C>G (p.Ala825=)
c.2451C>G (p.Ala817=)
n.2856C>G
7g.143351899C>TCA4537812CLCN1c.2901C>T (p.Ala967=)
n.2841C>T
c.2925C>T (p.Ala975=)
c.1647C>T (p.Ala549=)
c.2475C>T (p.Ala825=)
c.2451C>T (p.Ala817=)
n.2856C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351900G>ACA4537813CLCN1c.2902G>A (p.Asp968Asn)
n.2842G>A
c.2926G>A (p.Asp976Asn)
c.1648G>A (p.Asp550Asn)
c.2476G>A (p.Asp826Asn)
c.2452G>A (p.Asp818Asn)
n.2857G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351900G>CCA369654144CLCN1c.2902G>C (p.Asp968His)
n.2842G>C
c.2926G>C (p.Asp976His)
c.1648G>C (p.Asp550His)
c.2476G>C (p.Asp826His)
c.2452G>C (p.Asp818His)
n.2857G>C
 ClinVar dbSNP gnomAD v4
7g.143351900G=CA1748898388CLCN1c.2902G= (p.Asp968=)
n.2842G=
c.2926G= (p.Asp976=)
c.1648G= (p.Asp550=)
c.2476G= (p.Asp826=)
c.2452G= (p.Asp818=)
n.2857G=
7g.143351900G>TCA369654145CLCN1c.2902G>T (p.Asp968Tyr)
n.2842G>T
c.2926G>T (p.Asp976Tyr)
c.1648G>T (p.Asp550Tyr)
c.2476G>T (p.Asp826Tyr)
c.2452G>T (p.Asp818Tyr)
n.2857G>T
7g.143351901A>CCA369654148CLCN1c.2903A>C (p.Asp968Ala)
n.2843A>C
c.2927A>C (p.Asp976Ala)
c.1649A>C (p.Asp550Ala)
c.2477A>C (p.Asp826Ala)
c.2453A>C (p.Asp818Ala)
n.2858A>C
7g.143351901A>GCA369654150CLCN1c.2903A>G (p.Asp968Gly)
n.2843A>G
c.2927A>G (p.Asp976Gly)
c.1649A>G (p.Asp550Gly)
c.2477A>G (p.Asp826Gly)
c.2453A>G (p.Asp818Gly)
n.2858A>G
7g.143351901A>TCA369654147CLCN1c.2903A>T (p.Asp968Val)
n.2843A>T
c.2927A>T (p.Asp976Val)
c.1649A>T (p.Asp550Val)
c.2477A>T (p.Asp826Val)
c.2453A>T (p.Asp818Val)
n.2858A>T
7g.143351902C>ACA369654152CLCN1c.2904C>A (p.Asp968Glu)
n.2844C>A
c.2928C>A (p.Asp976Glu)
c.1650C>A (p.Asp550Glu)
c.2478C>A (p.Asp826Glu)
c.2454C>A (p.Asp818Glu)
n.2859C>A
7g.143351902C=CA1748898389CLCN1c.2904C= (p.Asp968=)
n.2844C=
c.2928C= (p.Asp976=)
c.1650C= (p.Asp550=)
c.2478C= (p.Asp826=)
c.2454C= (p.Asp818=)
n.2859C=
7g.143351902C>GCA369654154CLCN1c.2904C>G (p.Asp968Glu)
n.2844C>G
c.2928C>G (p.Asp976Glu)
c.1650C>G (p.Asp550Glu)
c.2478C>G (p.Asp826Glu)
c.2454C>G (p.Asp818Glu)
n.2859C>G
7g.143351902C>TCA4537814CLCN1c.2904C>T (p.Asp968=)
n.2844C>T
c.2928C>T (p.Asp976=)
c.1650C>T (p.Asp550=)
c.2478C>T (p.Asp826=)
c.2454C>T (p.Asp818=)
n.2859C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351903A=CA1748898390CLCN1c.2905A= (p.Ile969=)
n.2845A=
c.2929A= (p.Ile977=)
c.1651A= (p.Ile551=)
c.2479A= (p.Ile827=)
c.2455A= (p.Ile819=)
n.2860A=
7g.143351903A>CCA369654156CLCN1c.2905A>C (p.Ile969Leu)
n.2845A>C
c.2929A>C (p.Ile977Leu)
c.1651A>C (p.Ile551Leu)
c.2479A>C (p.Ile827Leu)
c.2455A>C (p.Ile819Leu)
n.2860A>C
7g.143351903A>GCA369654158CLCN1c.2905A>G (p.Ile969Val)
n.2845A>G
c.2929A>G (p.Ile977Val)
c.1651A>G (p.Ile551Val)
c.2479A>G (p.Ile827Val)
c.2455A>G (p.Ile819Val)
n.2860A>G
 dbSNP gnomAD v4
7g.143351903A>TCA369654159CLCN1c.2905A>T (p.Ile969Phe)
n.2845A>T
c.2929A>T (p.Ile977Phe)
c.1651A>T (p.Ile551Phe)
c.2479A>T (p.Ile827Phe)
c.2455A>T (p.Ile819Phe)
n.2860A>T
7g.143351904T>ACA369654161CLCN1c.2906T>A (p.Ile969Asn)
n.2846T>A
c.2930T>A (p.Ile977Asn)
c.1652T>A (p.Ile551Asn)
c.2480T>A (p.Ile827Asn)
c.2456T>A (p.Ile819Asn)
n.2861T>A
7g.143351904T>CCA369654163CLCN1c.2906T>C (p.Ile969Thr)
n.2846T>C
c.2930T>C (p.Ile977Thr)
c.1652T>C (p.Ile551Thr)
c.2480T>C (p.Ile827Thr)
c.2456T>C (p.Ile819Thr)
n.2861T>C
7g.143351904T>GCA369654164CLCN1c.2906T>G (p.Ile969Ser)
n.2846T>G
c.2930T>G (p.Ile977Ser)
c.1652T>G (p.Ile551Ser)
c.2480T>G (p.Ile827Ser)
c.2456T>G (p.Ile819Ser)
n.2861T>G
7g.143351905C>ACA458542579CLCN1c.2907C>A (p.Ile969=)
n.2847C>A
c.2931C>A (p.Ile977=)
c.1653C>A (p.Ile551=)
c.2481C>A (p.Ile827=)
c.2457C>A (p.Ile819=)
n.2862C>A
7g.143351905C>GCA369654166CLCN1c.2907C>G (p.Ile969Met)
n.2847C>G
c.2931C>G (p.Ile977Met)
c.1653C>G (p.Ile551Met)
c.2481C>G (p.Ile827Met)
c.2457C>G (p.Ile819Met)
n.2862C>G
7g.143351905C>TCA458542583CLCN1c.2907C>T (p.Ile969=)
n.2847C>T
c.2931C>T (p.Ile977=)
c.1653C>T (p.Ile551=)
c.2481C>T (p.Ile827=)
c.2457C>T (p.Ile819=)
n.2862C>T
7g.143351906T>ACA369654170CLCN1c.2908T>A (p.Leu970Met)
n.2848T>A
c.2932T>A (p.Leu978Met)
c.1654T>A (p.Leu552Met)
c.2482T>A (p.Leu828Met)
c.2458T>A (p.Leu820Met)
n.2863T>A
7g.143351906T>CCA458542584CLCN1c.2908T>C (p.Leu970=)
n.2848T>C
c.2932T>C (p.Leu978=)
c.1654T>C (p.Leu552=)
c.2482T>C (p.Leu828=)
c.2458T>C (p.Leu820=)
n.2863T>C
7g.143351906T>GCA369654171CLCN1c.2908T>G (p.Leu970Val)
n.2848T>G
c.2932T>G (p.Leu978Val)
c.1654T>G (p.Leu552Val)
c.2482T>G (p.Leu828Val)
c.2458T>G (p.Leu820Val)
n.2863T>G
7g.143351907T>ACA369654173CLCN1c.2909T>A (p.Leu970Ter)
n.2849T>A
c.2933T>A (p.Leu978Ter)
c.1655T>A (p.Leu552Ter)
c.2483T>A (p.Leu828Ter)
c.2459T>A (p.Leu820Ter)
n.2864T>A
 ClinVar gnomAD v4
7g.143351907T>CCA369654175CLCN1c.2909T>C (p.Leu970Ser)
n.2849T>C
c.2933T>C (p.Leu978Ser)
c.1655T>C (p.Leu552Ser)
c.2483T>C (p.Leu828Ser)
c.2459T>C (p.Leu820Ser)
n.2864T>C
7g.143351907T>GCA4537815CLCN1c.2909T>G (p.Leu970Trp)
n.2849T>G
c.2933T>G (p.Leu978Trp)
c.1655T>G (p.Leu552Trp)
c.2483T>G (p.Leu828Trp)
c.2459T>G (p.Leu820Trp)
n.2864T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351907T=CA1748898391CLCN1c.2909T= (p.Leu970=)
n.2849T=
c.2933T= (p.Leu978=)
c.1655T= (p.Leu552=)
c.2483T= (p.Leu828=)
c.2459T= (p.Leu820=)
n.2864T=
7g.143351908G>ACA458542589CLCN1c.2910G>A (p.Leu970=)
n.2850G>A
c.2934G>A (p.Leu978=)
c.1656G>A (p.Leu552=)
c.2484G>A (p.Leu828=)
c.2460G>A (p.Leu820=)
n.2865G>A
 gnomAD v4
7g.143351908G>CCA369654179CLCN1c.2910G>C (p.Leu970Phe)
n.2850G>C
c.2934G>C (p.Leu978Phe)
c.1656G>C (p.Leu552Phe)
c.2484G>C (p.Leu828Phe)
c.2460G>C (p.Leu820Phe)
n.2865G>C
7g.143351908G>TCA369654177CLCN1c.2910G>T (p.Leu970Phe)
n.2850G>T
c.2934G>T (p.Leu978Phe)
c.1656G>T (p.Leu552Phe)
c.2484G>T (p.Leu828Phe)
c.2460G>T (p.Leu820Phe)
n.2865G>T
7g.143351909C>ACA369654181CLCN1c.2911C>A (p.Gln971Lys)
n.2851C>A
c.2935C>A (p.Gln979Lys)
c.1657C>A (p.Gln553Lys)
c.2485C>A (p.Gln829Lys)
c.2461C>A (p.Gln821Lys)
n.2866C>A
7g.143351909C>GCA369654182CLCN1c.2911C>G (p.Gln971Glu)
n.2851C>G
c.2935C>G (p.Gln979Glu)
c.1657C>G (p.Gln553Glu)
c.2485C>G (p.Gln829Glu)
c.2461C>G (p.Gln821Glu)
n.2866C>G
7g.143351909C>TCA369654184CLCN1c.2911C>T (p.Gln971Ter)
n.2851C>T
c.2935C>T (p.Gln979Ter)
c.1657C>T (p.Gln553Ter)
c.2485C>T (p.Gln829Ter)
c.2461C>T (p.Gln821Ter)
n.2866C>T
7g.143351910A=CA1748898392CLCN1c.2912A= (p.Gln971=)
n.2852A=
c.2936A= (p.Gln979=)
c.1658A= (p.Gln553=)
c.2486A= (p.Gln829=)
c.2462A= (p.Gln821=)
n.2867A=
7g.143351910A>CCA369654186CLCN1c.2912A>C (p.Gln971Pro)
n.2852A>C
c.2936A>C (p.Gln979Pro)
c.1658A>C (p.Gln553Pro)
c.2486A>C (p.Gln829Pro)
c.2462A>C (p.Gln821Pro)
n.2867A>C
7g.143351910A>GCA369654187CLCN1c.2912A>G (p.Gln971Arg)
n.2852A>G
c.2936A>G (p.Gln979Arg)
c.1658A>G (p.Gln553Arg)
c.2486A>G (p.Gln829Arg)
c.2462A>G (p.Gln821Arg)
n.2867A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351910A>TCA369654189CLCN1c.2912A>T (p.Gln971Leu)
n.2852A>T
c.2936A>T (p.Gln979Leu)
c.1658A>T (p.Gln553Leu)
c.2486A>T (p.Gln829Leu)
c.2462A>T (p.Gln821Leu)
n.2867A>T
7g.143351911G>ACA458542597CLCN1c.2913G>A (p.Gln971=)
n.2853G>A
c.2937G>A (p.Gln979=)
c.1659G>A (p.Gln553=)
c.2487G>A (p.Gln829=)
c.2463G>A (p.Gln821=)
n.2868G>A
7g.143351911G>CCA369654190CLCN1c.2913G>C (p.Gln971His)
n.2853G>C
c.2937G>C (p.Gln979His)
c.1659G>C (p.Gln553His)
c.2487G>C (p.Gln829His)
c.2463G>C (p.Gln821His)
n.2868G>C
7g.143351911G>TCA369654192CLCN1c.2913G>T (p.Gln971His)
n.2853G>T
c.2937G>T (p.Gln979His)
c.1659G>T (p.Gln553His)
c.2487G>T (p.Gln829His)
c.2463G>T (p.Gln821His)
n.2868G>T
7g.143351912G>ACA369654193CLCN1c.2914G>A (p.Gly972Ser)
n.2854G>A
c.2938G>A (p.Gly980Ser)
c.1660G>A (p.Gly554Ser)
c.2488G>A (p.Gly830Ser)
c.2464G>A (p.Gly822Ser)
n.2869G>A
 gnomAD v4
7g.143351912G>CCA369654195CLCN1c.2914G>C (p.Gly972Arg)
n.2854G>C
c.2938G>C (p.Gly980Arg)
c.1660G>C (p.Gly554Arg)
c.2488G>C (p.Gly830Arg)
c.2464G>C (p.Gly822Arg)
n.2869G>C
7g.143351912G>TCA369654197CLCN1c.2914G>T (p.Gly972Cys)
n.2854G>T
c.2938G>T (p.Gly980Cys)
c.1660G>T (p.Gly554Cys)
c.2488G>T (p.Gly830Cys)
c.2464G>T (p.Gly822Cys)
n.2869G>T
7g.143351913G>ACA369654201CLCN1c.2915G>A (p.Gly972Asp)
n.2855G>A
c.2939G>A (p.Gly980Asp)
c.1661G>A (p.Gly554Asp)
c.2489G>A (p.Gly830Asp)
c.2465G>A (p.Gly822Asp)
n.2870G>A
 gnomAD v4
7g.143351913G>CCA369654200CLCN1c.2915G>C (p.Gly972Ala)
n.2855G>C
c.2939G>C (p.Gly980Ala)
c.1661G>C (p.Gly554Ala)
c.2489G>C (p.Gly830Ala)
c.2465G>C (p.Gly822Ala)
n.2870G>C
7g.143351913G>TCA369654199CLCN1c.2915G>T (p.Gly972Val)
n.2855G>T
c.2939G>T (p.Gly980Val)
c.1661G>T (p.Gly554Val)
c.2489G>T (p.Gly830Val)
c.2465G>T (p.Gly822Val)
n.2870G>T
7g.143351913_143351914delinsGCCA1748898393CLCN1c.2915_2916delinsGC (p.Gly972=)
n.2855_2856delinsGC
c.2939_2940delinsGC (p.Gly980=)
c.1661_1662delinsGC (p.Gly554=)
c.2489_2490delinsGC (p.Gly830=)
c.2465_2466delinsGC (p.Gly822=)
n.2870_2871delinsGC
7g.143351914C>ACA458542607CLCN1c.2916C>A (p.Gly972=)
n.2856C>A
c.2940C>A (p.Gly980=)
c.1662C>A (p.Gly554=)
c.2490C>A (p.Gly830=)
c.2466C>A (p.Gly822=)
n.2871C>A
7g.143351914C>GCA458542608CLCN1c.2916C>G (p.Gly972=)
n.2856C>G
c.2940C>G (p.Gly980=)
c.1662C>G (p.Gly554=)
c.2490C>G (p.Gly830=)
c.2466C>G (p.Gly822=)
n.2871C>G
7g.143351914C>TCA458542609CLCN1c.2916C>T (p.Gly972=)
n.2856C>T
c.2940C>T (p.Gly980=)
c.1662C>T (p.Gly554=)
c.2490C>T (p.Gly830=)
c.2466C>T (p.Gly822=)
n.2871C>T
7g.143351917delCA578626909CLCN1c.2919del (p.Ser974AlafsTer13)
n.2859del
c.2943del (p.Ser982AlafsTer13)
c.1665del (p.Ser556AlafsTer13)
c.2493del (p.Ser832AlafsTer13)
c.2469del (p.Ser824AlafsTer13)
n.2874del
 dbSNP gnomAD v2 gnomAD v4
7g.143351915C>ACA369654203CLCN1c.2917C>A (p.Pro973Thr)
n.2857C>A
c.2941C>A (p.Pro981Thr)
c.1663C>A (p.Pro555Thr)
c.2491C>A (p.Pro831Thr)
c.2467C>A (p.Pro823Thr)
n.2872C>A
7g.143351915C>GCA369654204CLCN1c.2917C>G (p.Pro973Ala)
n.2857C>G
c.2941C>G (p.Pro981Ala)
c.1663C>G (p.Pro555Ala)
c.2491C>G (p.Pro831Ala)
c.2467C>G (p.Pro823Ala)
n.2872C>G
7g.143351915C>TCA369654205CLCN1c.2917C>T (p.Pro973Ser)
n.2857C>T
c.2941C>T (p.Pro981Ser)
c.1663C>T (p.Pro555Ser)
c.2491C>T (p.Pro831Ser)
c.2467C>T (p.Pro823Ser)
n.2872C>T
7g.143351916C>ACA369654207CLCN1c.2918C>A (p.Pro973His)
n.2858C>A
c.2942C>A (p.Pro981His)
c.1664C>A (p.Pro555His)
c.2492C>A (p.Pro831His)
c.2468C>A (p.Pro823His)
n.2873C>A
7g.143351916C>GCA369654208CLCN1c.2918C>G (p.Pro973Arg)
n.2858C>G
c.2942C>G (p.Pro981Arg)
c.1664C>G (p.Pro555Arg)
c.2492C>G (p.Pro831Arg)
c.2468C>G (p.Pro823Arg)
n.2873C>G
7g.143351916C>TCA369654210CLCN1c.2918C>T (p.Pro973Leu)
n.2858C>T
c.2942C>T (p.Pro981Leu)
c.1664C>T (p.Pro555Leu)
c.2492C>T (p.Pro831Leu)
c.2468C>T (p.Pro823Leu)
n.2873C>T
7g.143351917C>ACA458542613CLCN1c.2919C>A (p.Pro973=)
n.2859C>A
c.2943C>A (p.Pro981=)
c.1665C>A (p.Pro555=)
c.2493C>A (p.Pro831=)
c.2469C>A (p.Pro823=)
n.2874C>A
 dbSNP gnomAD v3 gnomAD v4
7g.143351917C=CA1748898394CLCN1c.2919C= (p.Pro973=)
n.2859C=
c.2943C= (p.Pro981=)
c.1665C= (p.Pro555=)
c.2493C= (p.Pro831=)
c.2469C= (p.Pro823=)
n.2874C=
7g.143351917C>GCA458542611CLCN1c.2919C>G (p.Pro973=)
n.2859C>G
c.2943C>G (p.Pro981=)
c.1665C>G (p.Pro555=)
c.2493C>G (p.Pro831=)
c.2469C>G (p.Pro823=)
n.2874C>G
7g.143351917C>TCA458542612CLCN1c.2919C>T (p.Pro973=)
n.2859C>T
c.2943C>T (p.Pro981=)
c.1665C>T (p.Pro555=)
c.2493C>T (p.Pro831=)
c.2469C>T (p.Pro823=)
n.2874C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351918A>CCA369654211CLCN1c.2920A>C (p.Ser974Arg)
n.2860A>C
c.2944A>C (p.Ser982Arg)
c.1666A>C (p.Ser556Arg)
c.2494A>C (p.Ser832Arg)
c.2470A>C (p.Ser824Arg)
n.2875A>C
7g.143351918A>GCA369654212CLCN1c.2920A>G (p.Ser974Gly)
n.2860A>G
c.2944A>G (p.Ser982Gly)
c.1666A>G (p.Ser556Gly)
c.2494A>G (p.Ser832Gly)
c.2470A>G (p.Ser824Gly)
n.2875A>G
7g.143351918A>TCA369654214CLCN1c.2920A>T (p.Ser974Cys)
n.2860A>T
c.2944A>T (p.Ser982Cys)
c.1666A>T (p.Ser556Cys)
c.2494A>T (p.Ser832Cys)
c.2470A>T (p.Ser824Cys)
n.2875A>T
7g.143351919G>ACA369654216CLCN1c.2921G>A (p.Ser974Asn)
n.2861G>A
c.2945G>A (p.Ser982Asn)
c.1667G>A (p.Ser556Asn)
c.2495G>A (p.Ser832Asn)
c.2471G>A (p.Ser824Asn)
n.2876G>A
7g.143351919G>CCA369654218CLCN1c.2921G>C (p.Ser974Thr)
n.2861G>C
c.2945G>C (p.Ser982Thr)
c.1667G>C (p.Ser556Thr)
c.2495G>C (p.Ser832Thr)
c.2471G>C (p.Ser824Thr)
n.2876G>C
7g.143351919G>TCA369654219CLCN1c.2921G>T (p.Ser974Ile)
n.2861G>T
c.2945G>T (p.Ser982Ile)
c.1667G>T (p.Ser556Ile)
c.2495G>T (p.Ser832Ile)
c.2471G>T (p.Ser824Ile)
n.2876G>T
7g.143351920C>ACA369654221CLCN1c.2922C>A (p.Ser974Arg)
n.2862C>A
c.2946C>A (p.Ser982Arg)
c.1668C>A (p.Ser556Arg)
c.2496C>A (p.Ser832Arg)
c.2472C>A (p.Ser824Arg)
n.2877C>A
7g.143351920C=CA1748898395CLCN1c.2922C= (p.Ser974=)
n.2862C=
c.2946C= (p.Ser982=)
c.1668C= (p.Ser556=)
c.2496C= (p.Ser832=)
c.2472C= (p.Ser824=)
n.2877C=
7g.143351920C>GCA369654223CLCN1c.2922C>G (p.Ser974Arg)
n.2862C>G
c.2946C>G (p.Ser982Arg)
c.1668C>G (p.Ser556Arg)
c.2496C>G (p.Ser832Arg)
c.2472C>G (p.Ser824Arg)
n.2877C>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351920C>TCA458542616CLCN1c.2922C>T (p.Ser974=)
n.2862C>T
c.2946C>T (p.Ser982=)
c.1668C>T (p.Ser556=)
c.2496C>T (p.Ser832=)
c.2472C>T (p.Ser824=)
n.2877C>T
7g.143351921C>ACA369654224CLCN1c.2923C>A (p.Leu975Met)
n.2863C>A
c.2947C>A (p.Leu983Met)
c.1669C>A (p.Leu557Met)
c.2497C>A (p.Leu833Met)
c.2473C>A (p.Leu825Met)
n.2878C>A
7g.143351921C>GCA369654226CLCN1c.2923C>G (p.Leu975Val)
n.2863C>G
c.2947C>G (p.Leu983Val)
c.1669C>G (p.Leu557Val)
c.2497C>G (p.Leu833Val)
c.2473C>G (p.Leu825Val)
n.2878C>G
7g.143351921C>TCA458542619CLCN1c.2923C>T (p.Leu975=)
n.2863C>T
c.2947C>T (p.Leu983=)
c.1669C>T (p.Leu557=)
c.2497C>T (p.Leu833=)
c.2473C>T (p.Leu825=)
n.2878C>T
7g.143351922T>ACA369654227CLCN1c.2924T>A (p.Leu975Gln)
n.2864T>A
c.2948T>A (p.Leu983Gln)
c.1670T>A (p.Leu557Gln)
c.2498T>A (p.Leu833Gln)
c.2474T>A (p.Leu825Gln)
n.2879T>A
7g.143351922T>CCA369654229CLCN1c.2924T>C (p.Leu975Pro)
n.2864T>C
c.2948T>C (p.Leu983Pro)
c.1670T>C (p.Leu557Pro)
c.2498T>C (p.Leu833Pro)
c.2474T>C (p.Leu825Pro)
n.2879T>C
7g.143351922T>GCA369654231CLCN1c.2924T>G (p.Leu975Arg)
n.2864T>G
c.2948T>G (p.Leu983Arg)
c.1670T>G (p.Leu557Arg)
c.2498T>G (p.Leu833Arg)
c.2474T>G (p.Leu825Arg)
n.2879T>G

Number of alleles fetched