Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.143351822C>A | CA369653879 | CLCN1 | c.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 | |
7 | g.143351822C>G | CA369653878 | CLCN1 | c.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 | |
7 | g.143351822C>T | CA458542404 | CLCN1 | c.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 | |
7 | g.143351823T>A | CA369653880 | CLCN1 | c.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 |
7 | g.143351823T>C | CA369653881 | CLCN1 | c.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 | |
7 | g.143351823T>G | CA369653882 | CLCN1 | c.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 | |
7 | g.143351823T= | CA1748898350 | CLCN1 | c.2825T= (p.Leu942=) n.2765T= c.2849T= (p.Leu950=) c.1571T= (p.Leu524=) c.2399T= (p.Leu800=) c.2375T= (p.Leu792=) n.2780T= | |
7 | g.143351824G>A | CA458542407 | CLCN1 | c.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 |
7 | g.143351824G>C | CA458542405 | CLCN1 | c.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 | |
7 | g.143351824G>T | CA458542406 | CLCN1 | c.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 | |
7 | g.143351825G>A | CA369653883 | CLCN1 | c.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 | |
7 | g.143351825G>C | CA369653884 | CLCN1 | c.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 | |
7 | g.143351825G= | CA1748898351 | CLCN1 | c.2827G= (p.Ala943=) n.2767G= c.2851G= (p.Ala951=) c.1573G= (p.Ala525=) c.2401G= (p.Ala801=) c.2377G= (p.Ala793=) n.2782G= | |
7 | g.143351825G>T | CA369653885 | CLCN1 | c.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 | |
7 | g.143351826C>A | CA369653888 | CLCN1 | c.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 |
7 | g.143351826C= | CA1748898352 | CLCN1 | c.2828C= (p.Ala943=) n.2768C= c.2852C= (p.Ala951=) c.1574C= (p.Ala525=) c.2402C= (p.Ala801=) c.2378C= (p.Ala793=) n.2783C= | |
7 | g.143351826C>G | CA369653886 | CLCN1 | c.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 | |
7 | g.143351826C>T | CA369653887 | CLCN1 | c.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 |
7 | g.143351829dup | CA4537794 | CLCN1 | c.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 |
7 | g.143351827C>A | CA458542410 | CLCN1 | c.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 | |
7 | g.143351827C>G | CA458542412 | CLCN1 | c.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 | |
7 | g.143351827C>T | CA458542414 | CLCN1 | c.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 | |
7 | g.143351828C>A | CA369653891 | CLCN1 | c.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 | |
7 | g.143351828C>G | CA369653892 | CLCN1 | c.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 |
7 | g.143351828C>T | CA369653893 | CLCN1 | c.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 | |
7 | g.143351829C>A | CA369653894 | CLCN1 | c.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 | |
7 | g.143351829C= | CA1748898353 | CLCN1 | c.2831C= (p.Pro944=) n.2771C= c.2855C= (p.Pro952=) c.1577C= (p.Pro526=) c.2405C= (p.Pro802=) c.2381C= (p.Pro794=) n.2786C= | |
7 | g.143351829C>G | CA369653895 | CLCN1 | c.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 | |
7 | g.143351829C>T | CA369653896 | CLCN1 | c.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 |
7 | g.143351830A= | CA1748898354 | CLCN1 | c.2832A= (p.Pro944=) n.2772A= c.2856A= (p.Pro952=) c.1578A= (p.Pro526=) c.2406A= (p.Pro802=) c.2382A= (p.Pro794=) n.2787A= | |
7 | g.143351830A>C | CA4537795 | CLCN1 | c.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 |
7 | g.143351830A>G | CA458542419 | CLCN1 | c.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 | |
7 | g.143351830A>T | CA458542421 | CLCN1 | c.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 | |
7 | g.143351831G>A | CA4537796 | CLCN1 | c.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 |
7 | g.143351831G>C | CA369653897 | CLCN1 | c.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 | |
7 | g.143351831G= | CA1748898355 | CLCN1 | c.2833G= (p.Gly945=) n.2773G= c.2857G= (p.Gly953=) c.1579G= (p.Gly527=) c.2407G= (p.Gly803=) c.2383G= (p.Gly795=) n.2788G= | |
7 | g.143351831G>T | CA369653898 | CLCN1 | c.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 | |
7 | g.143351832G>A | CA369653899 | CLCN1 | c.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 | |
7 | g.143351832G>C | CA369653900 | CLCN1 | c.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 | |
7 | g.143351832G= | CA1748898356 | CLCN1 | c.2834G= (p.Gly945=) n.2774G= c.2858G= (p.Gly953=) c.1580G= (p.Gly527=) c.2408G= (p.Gly803=) c.2384G= (p.Gly795=) n.2789G= | |
7 | g.143351832G>T | CA4537797 | CLCN1 | c.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 |
7 | g.143351833C>A | CA458542426 | CLCN1 | c.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 | |
7 | g.143351833C>G | CA458542427 | CLCN1 | c.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 | |
7 | g.143351833C>T | CA458542429 | CLCN1 | c.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 | |
7 | g.143351834A>C | CA369653903 | CLCN1 | c.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 | |
7 | g.143351834A>G | CA369653901 | CLCN1 | c.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 | |
7 | g.143351834A>T | CA369653902 | CLCN1 | c.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 | |
7 | g.143351835A>C | CA369653904 | CLCN1 | c.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 | |
7 | g.143351835A>G | CA369653905 | CLCN1 | c.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 | |
7 | g.143351835A>T | CA369653906 | CLCN1 | c.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 | |
7 | g.143351836G>A | CA458542433 | CLCN1 | c.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 | |
7 | g.143351836G>C | CA369653907 | CLCN1 | c.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 | |
7 | g.143351836G>T | CA369653908 | CLCN1 | c.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 | |
7 | g.143351837G>A | CA369653911 | CLCN1 | c.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 |
7 | g.143351837G>C | CA369653910 | CLCN1 | c.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 | |
7 | g.143351837G= | CA1748898357 | CLCN1 | c.2839G= (p.Val947=) n.2779G= c.2863G= (p.Val955=) c.1585G= (p.Val529=) c.2413G= (p.Val805=) c.2389G= (p.Val797=) n.2794G= | |
7 | g.143351837G>T | CA369653909 | CLCN1 | c.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 | |
7 | g.143351838T>A | CA369653912 | CLCN1 | c.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 | |
7 | g.143351838T>C | CA4537798 | CLCN1 | c.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 |
7 | g.143351838T>G | CA369653913 | CLCN1 | c.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 | |
7 | g.143351838T= | CA1748898358 | CLCN1 | c.2840T= (p.Val947=) n.2780T= c.2864T= (p.Val955=) c.1586T= (p.Val529=) c.2414T= (p.Val805=) c.2390T= (p.Val797=) n.2795T= | |
7 | g.143351839A>C | CA458542439 | CLCN1 | c.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 | |
7 | g.143351839A>G | CA458542438 | CLCN1 | c.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 | |
7 | g.143351839A>T | CA458542437 | CLCN1 | c.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 | |
7 | g.143351840G>A | CA369653915 | CLCN1 | c.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 | |
7 | g.143351840G>C | CA369653916 | CLCN1 | c.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 | |
7 | g.143351840G>T | CA369653918 | CLCN1 | c.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 | |
7 | g.143351841A>C | CA369653923 | CLCN1 | c.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 | |
7 | g.143351841A>G | CA369653920 | CLCN1 | c.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 | |
7 | g.143351841A>T | CA369653921 | CLCN1 | c.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 | |
7 | g.143351842G>A | CA458542444 | CLCN1 | c.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 | |
7 | g.143351842G>C | CA369653928 | CLCN1 | c.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 |
7 | g.143351842G= | CA1748898359 | CLCN1 | c.2844G= (p.Glu948=) n.2784G= c.2868G= (p.Glu956=) c.1590G= (p.Glu530=) c.2418G= (p.Glu806=) c.2394G= (p.Glu798=) n.2799G= | |
7 | g.143351842G>T | CA369653930 | CLCN1 | c.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 | |
7 | g.143351843G>A | CA369653931 | CLCN1 | c.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 |
7 | g.143351843G>C | CA369653932 | CLCN1 | c.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 | |
7 | g.143351843G>T | CA369653933 | CLCN1 | c.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 | |
7 | g.143351844G>A | CA369653935 | CLCN1 | c.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 | |
7 | g.143351844G>C | CA369653937 | CLCN1 | c.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 | |
7 | g.143351844G>T | CA369653938 | CLCN1 | c.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 | |
7 | g.143351845C>A | CA458542451 | CLCN1 | c.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 |
7 | g.143351845C= | CA1748898360 | CLCN1 | c.2847C= (p.Gly949=) n.2787C= c.2871C= (p.Gly957=) c.1593C= (p.Gly531=) c.2421C= (p.Gly807=) c.2397C= (p.Gly799=) n.2802C= | |
7 | g.143351845C>G | CA458542452 | CLCN1 | c.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 | |
7 | g.143351845C>T | CA4537799 | CLCN1 | c.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 |
7 | g.143351846G>A | CA4537800 | CLCN1 | c.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 |
7 | g.143351846G>C | CA369653942 | CLCN1 | c.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 | |
7 | g.143351846G= | CA1748898361 | CLCN1 | c.2848G= (p.Glu950=) n.2788G= c.2872G= (p.Glu958=) c.1594G= (p.Glu532=) c.2422G= (p.Glu808=) c.2398G= (p.Glu800=) n.2803G= | |
7 | g.143351846G>T | CA369653944 | CLCN1 | c.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 |
7 | g.143351847A>C | CA369653949 | CLCN1 | c.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 | |
7 | g.143351847A>G | CA369653946 | CLCN1 | c.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 | |
7 | g.143351847A>T | CA369653948 | CLCN1 | c.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 | |
7 | g.143351848G>A | CA458542457 | CLCN1 | c.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 | |
7 | g.143351848G>C | CA369653951 | CLCN1 | c.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 | |
7 | g.143351848G>T | CA369653952 | CLCN1 | c.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 | |
7 | g.143351848_143351850delinsGTT | CA1748898362 | CLCN1 | c.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 | |
7 | g.143351849T>A | CA369653954 | CLCN1 | c.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 | |
7 | g.143351849T>C | CA4537801 | CLCN1 | c.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 |
7 | g.143351849T>G | CA369653956 | CLCN1 | c.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 |
7 | g.143351849T= | CA1748898363 | CLCN1 | c.2851T= (p.Leu951=) n.2791T= c.2875T= (p.Leu959=) c.1597T= (p.Leu533=) c.2425T= (p.Leu809=) c.2401T= (p.Leu801=) n.2806T= | |
7 | g.143351849_143351850del | CA918151271 | CLCN1 | c.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 |
7 | g.143351850T>A | CA369653958 | CLCN1 | c.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 | |
7 | g.143351850T>C | CA369653959 | CLCN1 | c.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 | |
7 | g.143351850T>G | CA369653960 | CLCN1 | c.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 | |
7 | g.143351851G>A | CA4537802 | CLCN1 | c.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 |
7 | g.143351851G>C | CA369653962 | CLCN1 | c.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 | |
7 | g.143351851G= | CA1748898364 | CLCN1 | c.2853G= (p.Leu951=) n.2793G= c.2877G= (p.Leu959=) c.1599G= (p.Leu533=) c.2427G= (p.Leu809=) c.2403G= (p.Leu801=) n.2808G= | |
7 | g.143351851G>T | CA369653963 | CLCN1 | c.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 | |
7 | g.143351852G>A | CA369653965 | CLCN1 | c.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 | |
7 | g.143351852G>C | CA369653967 | CLCN1 | c.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 |
7 | g.143351852G>T | CA369653969 | CLCN1 | c.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 | |
7 | g.143351853A= | CA1748898365 | CLCN1 | c.2855A= (p.Glu952=) n.2795A= c.2879A= (p.Glu960=) c.1601A= (p.Glu534=) c.2429A= (p.Glu810=) c.2405A= (p.Glu802=) n.2810A= | |
7 | g.143351853A>C | CA369653973 | CLCN1 | c.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 | |
7 | g.143351853A>G | CA4537803 | CLCN1 | c.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 |
7 | g.143351853A>T | CA369653971 | CLCN1 | c.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 | |
7 | g.143351854G>A | CA458542469 | CLCN1 | c.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 | |
7 | g.143351854G>C | CA369653975 | CLCN1 | c.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 | |
7 | g.143351854G>T | CA369653976 | CLCN1 | c.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 | |
7 | g.143351862_143351867dup | CA1748898366 | CLCN1 | c.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 |
7 | g.143351855G>A | CA369653978 | CLCN1 | c.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 |
7 | g.143351855G>C | CA369653980 | CLCN1 | c.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 | |
7 | g.143351855G>T | CA369653981 | CLCN1 | c.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 | |
7 | g.143351856A>C | CA369653983 | CLCN1 | c.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 | |
7 | g.143351856A>G | CA369653984 | CLCN1 | c.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 | |
7 | g.143351856A>T | CA369653987 | CLCN1 | c.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 | |
7 | g.143351857G>A | CA458542473 | CLCN1 | c.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 | |
7 | g.143351857G>C | CA369653989 | CLCN1 | c.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 | |
7 | g.143351857G>T | CA369653991 | CLCN1 | c.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 |
7 | g.143351858C>A | CA369653993 | CLCN1 | c.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 | |
7 | g.143351858C= | CA1748898367 | CLCN1 | c.2860C= (p.Leu954=) n.2800C= c.2884C= (p.Leu962=) c.1606C= (p.Leu536=) c.2434C= (p.Leu812=) c.2410C= (p.Leu804=) n.2815C= | |
7 | g.143351858C>G | CA4537804 | CLCN1 | c.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 |
7 | g.143351858C>T | CA458542476 | CLCN1 | c.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 | |
7 | g.143351859T>A | CA369653998 | CLCN1 | c.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 | |
7 | g.143351859T>C | CA369653997 | CLCN1 | c.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 | |
7 | g.143351859T>G | CA369653996 | CLCN1 | c.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 | |
7 | g.143351860G>A | CA458542482 | CLCN1 | c.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 |
7 | g.143351860G>C | CA458542481 | CLCN1 | c.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 | |
7 | g.143351860G>T | CA458542480 | CLCN1 | c.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 | |
7 | g.143351861G>A | CA168231742 | CLCN1 | c.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 |
7 | g.143351861G>C | CA369653999 | CLCN1 | c.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 | |
7 | g.143351861G= | CA1748898368 | CLCN1 | c.2863G= (p.Glu955=) n.2803G= c.2887G= (p.Glu963=) c.1609G= (p.Glu537=) c.2437G= (p.Glu813=) c.2413G= (p.Glu805=) n.2818G= | |
7 | g.143351861G>T | CA369654000 | CLCN1 | c.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 | |
7 | g.143351862A= | CA1748898369 | CLCN1 | c.2864A= (p.Glu955=) n.2804A= c.2888A= (p.Glu963=) c.1610A= (p.Glu537=) c.2438A= (p.Glu813=) c.2414A= (p.Glu805=) n.2819A= | |
7 | g.143351862A>C | CA369654002 | CLCN1 | c.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 | |
7 | g.143351862A>G | CA168231747 | CLCN1 | c.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 |
7 | g.143351862A>T | CA4537805 | CLCN1 | c.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 |
7 | g.143351863G>A | CA4537806 | CLCN1 | c.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 |
7 | g.143351863G>C | CA369654006 | CLCN1 | c.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 | |
7 | g.143351863G= | CA1748898370 | CLCN1 | c.2865G= (p.Glu955=) n.2805G= c.2889G= (p.Glu963=) c.1611G= (p.Glu537=) c.2439G= (p.Glu813=) c.2415G= (p.Glu805=) n.2820G= | |
7 | g.143351863G>T | CA369654004 | CLCN1 | c.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 | |
7 | g.143351864C>A | CA369654008 | CLCN1 | c.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 | |
7 | g.143351864C>G | CA369654009 | CLCN1 | c.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 | |
7 | g.143351864C>T | CA458542483 | CLCN1 | c.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 | |
7 | g.143351865T>A | CA369654010 | CLCN1 | c.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 | |
7 | g.143351865T>C | CA369654011 | CLCN1 | c.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 | |
7 | g.143351865T>G | CA369654012 | CLCN1 | c.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 | |
7 | g.143351866G>A | CA168231762 | CLCN1 | c.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 |
7 | g.143351866G>C | CA458542487 | CLCN1 | c.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 |
7 | g.143351866G= | CA1748898371 | CLCN1 | c.2868G= (p.Leu956=) n.2808G= c.2892G= (p.Leu964=) c.1614G= (p.Leu538=) c.2442G= (p.Leu814=) c.2418G= (p.Leu806=) n.2823G= | |
7 | g.143351866G>T | CA458542489 | CLCN1 | c.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 | |
7 | g.143351867G>A | CA4537807 | CLCN1 | c.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 |
7 | g.143351867G>C | CA369654021 | CLCN1 | c.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 |
7 | g.143351867G= | CA1748898372 | CLCN1 | c.2869G= (p.Val957=) n.2809G= c.2893G= (p.Val965=) c.1615G= (p.Val539=) c.2443G= (p.Val815=) c.2419G= (p.Val807=) n.2824G= | |
7 | g.143351867G>T | CA369654015 | CLCN1 | c.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 |
7 | g.143351868T>A | CA369654023 | CLCN1 | c.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 | |
7 | g.143351868T>C | CA369654024 | CLCN1 | c.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 |
7 | g.143351868T>G | CA369654026 | CLCN1 | c.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 | |
7 | g.143351868T= | CA1748898373 | CLCN1 | c.2870T= (p.Val957=) n.2810T= c.2894T= (p.Val965=) c.1616T= (p.Val539=) c.2444T= (p.Val815=) c.2420T= (p.Val807=) n.2825T= | |
7 | g.143351869G>A | CA458542498 | CLCN1 | c.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 |
7 | g.143351869G>C | CA458542499 | CLCN1 | c.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 | |
7 | g.143351869G= | CA1748898374 | CLCN1 | c.2871G= (p.Val957=) n.2811G= c.2895G= (p.Val965=) c.1617G= (p.Val539=) c.2445G= (p.Val815=) c.2421G= (p.Val807=) n.2826G= | |
7 | g.143351869G>T | CA458542500 | CLCN1 | c.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 | |
7 | g.143351870G>A | CA369654028 | CLCN1 | c.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 |
7 | g.143351870G>C | CA369654029 | CLCN1 | c.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 | |
7 | g.143351870G= | CA1748898375 | CLCN1 | c.2872G= (p.Glu958=) n.2812G= c.2896G= (p.Glu966=) c.1618G= (p.Glu540=) c.2446G= (p.Glu816=) c.2422G= (p.Glu808=) n.2827G= | |
7 | g.143351870G>T | CA4537808 | CLCN1 | c.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 |
7 | g.143351871A>C | CA369654032 | CLCN1 | c.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 | |
7 | g.143351871A>G | CA369654034 | CLCN1 | c.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 | |
7 | g.143351871A>T | CA369654035 | CLCN1 | c.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 | |
7 | g.143351872G>A | CA458542503 | CLCN1 | c.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 |
7 | g.143351872G>C | CA369654037 | CLCN1 | c.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 | |
7 | g.143351872G= | CA1748898376 | CLCN1 | c.2874G= (p.Glu958=) n.2814G= c.2898G= (p.Glu966=) c.1620G= (p.Glu540=) c.2448G= (p.Glu816=) c.2424G= (p.Glu808=) n.2829G= | |
7 | g.143351872G>T | CA369654039 | CLCN1 | c.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 | |
7 | g.143351873A= | CA1748898377 | CLCN1 | c.2875A= (p.Ser959=) n.2815A= c.2899A= (p.Ser967=) c.1621A= (p.Ser541=) c.2449A= (p.Ser817=) c.2425A= (p.Ser809=) n.2830A= | |
7 | g.143351873A>C | CA369654042 | CLCN1 | c.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 | |
7 | g.143351873A>G | CA4537809 | CLCN1 | c.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 |
7 | g.143351873A>T | CA369654040 | CLCN1 | c.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 | |
7 | g.143351874G>A | CA369654045 | CLCN1 | c.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 |
7 | g.143351874G>C | CA369654046 | CLCN1 | c.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 | |
7 | g.143351874G>T | CA369654048 | CLCN1 | c.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 | |
7 | g.143351875T>A | CA369654050 | CLCN1 | c.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 | |
7 | g.143351875T>C | CA458542509 | CLCN1 | c.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 | |
7 | g.143351875T>G | CA369654052 | CLCN1 | c.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 | |
7 | g.143351876C>A | CA369654057 | CLCN1 | c.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 | |
7 | g.143351876C>G | CA369654056 | CLCN1 | c.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 |
7 | g.143351876C>T | CA369654054 | CLCN1 | c.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 | |
7 | g.143351877C>A | CA369654060 | CLCN1 | c.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 | |
7 | g.143351877C= | CA1748898378 | CLCN1 | c.2879C= (p.Pro960=) n.2819C= c.2903C= (p.Pro968=) c.1625C= (p.Pro542=) c.2453C= (p.Pro818=) c.2429C= (p.Pro810=) n.2834C= | |
7 | g.143351877C>G | CA369654061 | CLCN1 | c.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 |
7 | g.143351877C>T | CA369654062 | CLCN1 | c.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 | |
7 | g.143351878A= | CA1748898379 | CLCN1 | c.2880A= (p.Pro960=) n.2820A= c.2904A= (p.Pro968=) c.1626A= (p.Pro542=) c.2454A= (p.Pro818=) c.2430A= (p.Pro810=) n.2835A= | |
7 | g.143351878A>C | CA458542513 | CLCN1 | c.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 |
7 | g.143351878A>G | CA458542515 | CLCN1 | c.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 |
7 | g.143351878A>T | CA458542516 | CLCN1 | c.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 | |
7 | g.143351879G>A | CA369654064 | CLCN1 | c.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 | |
7 | g.143351879G>C | CA369654065 | CLCN1 | c.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 |
7 | g.143351879G= | CA1748898380 | CLCN1 | c.2881G= (p.Gly961=) n.2821G= c.2905G= (p.Gly969=) c.1627G= (p.Gly543=) c.2455G= (p.Gly819=) c.2431G= (p.Gly811=) n.2836G= | |
7 | g.143351879G>T | CA369654067 | CLCN1 | c.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 |
7 | g.143351880G>A | CA369654072 | CLCN1 | c.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 |
7 | g.143351880G>C | CA369654069 | CLCN1 | c.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 | |
7 | g.143351880G= | CA1748898381 | CLCN1 | c.2882G= (p.Gly961=) n.2822G= c.2906G= (p.Gly969=) c.1628G= (p.Gly543=) c.2456G= (p.Gly819=) c.2432G= (p.Gly811=) n.2837G= | |
7 | g.143351880G>T | CA369654070 | CLCN1 | c.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 | |
7 | g.143351881G>A | CA458542521 | CLCN1 | c.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 |
7 | g.143351881G>C | CA16605144 | CLCN1 | c.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 |
7 | g.143351881G= | CA1748898382 | CLCN1 | c.2883G= (p.Gly961=) n.2823G= c.2907G= (p.Gly969=) c.1629G= (p.Gly543=) c.2457G= (p.Gly819=) c.2433G= (p.Gly811=) n.2838G= | |
7 | g.143351881G>T | CA458542520 | CLCN1 | c.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 | |
7 | g.143351882C>A | CA369654075 | CLCN1 | c.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 |
7 | g.143351882C>G | CA369654077 | CLCN1 | c.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 | |
7 | g.143351882C>T | CA458542527 | CLCN1 | c.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 |
7 | g.143351883T>A | CA369654079 | CLCN1 | c.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 | |
7 | g.143351883T>C | CA369654080 | CLCN1 | c.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 | |
7 | g.143351883T>G | CA369654081 | CLCN1 | c.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 | |
7 | g.143351884G>A | CA458542534 | CLCN1 | c.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 |
7 | g.143351884G>C | CA458542535 | CLCN1 | c.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 | |
7 | g.143351884G>T | CA458542537 | CLCN1 | c.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 | |
7 | g.143351885G>A | CA369654083 | CLCN1 | c.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 |
7 | g.143351885G>C | CA369654085 | CLCN1 | c.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 | |
7 | g.143351885G= | CA1748898383 | CLCN1 | c.2887G= (p.Glu963=) n.2827G= c.2911G= (p.Glu971=) c.1633G= (p.Glu545=) c.2461G= (p.Glu821=) c.2437G= (p.Glu813=) n.2842G= | |
7 | g.143351885G>T | CA369654086 | CLCN1 | c.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 | |
7 | g.143351886A>C | CA369654088 | CLCN1 | c.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 | |
7 | g.143351886A>G | CA369654089 | CLCN1 | c.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 | |
7 | g.143351886A>T | CA369654091 | CLCN1 | c.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 | |
7 | g.143351887A= | CA1748898384 | CLCN1 | c.2889A= (p.Glu963=) n.2829A= c.2913A= (p.Glu971=) c.1635A= (p.Glu545=) c.2463A= (p.Glu821=) c.2439A= (p.Glu813=) n.2844A= | |
7 | g.143351887A>C | CA369654093 | CLCN1 | c.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 |
7 | g.143351887A>G | CA458542543 | CLCN1 | c.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 |
7 | g.143351887A>T | CA369654095 | CLCN1 | c.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 | |
7 | g.143351888G>A | CA369654099 | CLCN1 | c.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 |
7 | g.143351888G>C | CA4537810 | CLCN1 | c.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 |
7 | g.143351888G= | CA1748898385 | CLCN1 | c.2890G= (p.Glu964=) n.2830G= c.2914G= (p.Glu972=) c.1636G= (p.Glu546=) c.2464G= (p.Glu822=) c.2440G= (p.Glu814=) n.2845G= | |
7 | g.143351888G>T | CA369654097 | CLCN1 | c.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 | |
7 | g.143351889A>C | CA369654101 | CLCN1 | c.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 | |
7 | g.143351889A>G | CA369654105 | CLCN1 | c.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 | |
7 | g.143351889A>T | CA369654107 | CLCN1 | c.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 | |
7 | g.143351890G>A | CA458542547 | CLCN1 | c.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 |
7 | g.143351890G>C | CA369654109 | CLCN1 | c.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 | |
7 | g.143351890G>T | CA369654110 | CLCN1 | c.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 | |
7 | g.143351891G>A | CA369654111 | CLCN1 | c.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 | |
7 | g.143351891G>C | CA369654113 | CLCN1 | c.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 | |
7 | g.143351891G>T | CA369654115 | CLCN1 | c.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 | |
7 | g.143351892A>C | CA369654117 | CLCN1 | c.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 | |
7 | g.143351892A>G | CA369654118 | CLCN1 | c.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 | |
7 | g.143351892A>T | CA369654120 | CLCN1 | c.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 | |
7 | g.143351893G>A | CA458542552 | CLCN1 | c.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 | |
7 | g.143351893G>C | CA369654122 | CLCN1 | c.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 |
7 | g.143351893G>T | CA369654123 | CLCN1 | c.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 | |
7 | g.143351894C>A | CA369654127 | CLCN1 | c.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 | |
7 | g.143351894C= | CA1748898386 | CLCN1 | c.2896C= (p.Leu966=) n.2836C= c.2920C= (p.Leu974=) c.1642C= (p.Leu548=) c.2470C= (p.Leu824=) c.2446C= (p.Leu816=) n.2851C= | |
7 | g.143351894C>G | CA369654126 | CLCN1 | c.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 |
7 | g.143351894C>T | CA4537811 | CLCN1 | c.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 |
7 | g.143351895T>A | CA369654129 | CLCN1 | c.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 | |
7 | g.143351895T>C | CA369654130 | CLCN1 | c.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 | |
7 | g.143351895T>G | CA369654132 | CLCN1 | c.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 | |
7 | g.143351896G>A | CA458542560 | CLCN1 | c.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 |
7 | g.143351896G>C | CA458542562 | CLCN1 | c.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 | |
7 | g.143351896G>T | CA458542563 | CLCN1 | c.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 | |
7 | g.143351897G>A | CA369654134 | CLCN1 | c.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 |
7 | g.143351897G>C | CA369654136 | CLCN1 | c.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 | |
7 | g.143351897G>T | CA369654137 | CLCN1 | c.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 | |
7 | g.143351898C>A | CA369654139 | CLCN1 | c.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 | |
7 | g.143351898C>G | CA369654140 | CLCN1 | c.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 | |
7 | g.143351898C>T | CA369654141 | CLCN1 | c.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 |
7 | g.143351899C>A | CA458542568 | CLCN1 | c.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 |
7 | g.143351899C= | CA1748898387 | CLCN1 | c.2901C= (p.Ala967=) n.2841C= c.2925C= (p.Ala975=) c.1647C= (p.Ala549=) c.2475C= (p.Ala825=) c.2451C= (p.Ala817=) n.2856C= | |
7 | g.143351899C>G | CA458542569 | CLCN1 | c.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 | |
7 | g.143351899C>T | CA4537812 | CLCN1 | c.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 |
7 | g.143351900G>A | CA4537813 | CLCN1 | c.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 |
7 | g.143351900G>C | CA369654144 | CLCN1 | c.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 |
7 | g.143351900G= | CA1748898388 | CLCN1 | c.2902G= (p.Asp968=) n.2842G= c.2926G= (p.Asp976=) c.1648G= (p.Asp550=) c.2476G= (p.Asp826=) c.2452G= (p.Asp818=) n.2857G= | |
7 | g.143351900G>T | CA369654145 | CLCN1 | c.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 | |
7 | g.143351901A>C | CA369654148 | CLCN1 | c.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 | |
7 | g.143351901A>G | CA369654150 | CLCN1 | c.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 | |
7 | g.143351901A>T | CA369654147 | CLCN1 | c.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 | |
7 | g.143351902C>A | CA369654152 | CLCN1 | c.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 | |
7 | g.143351902C= | CA1748898389 | CLCN1 | c.2904C= (p.Asp968=) n.2844C= c.2928C= (p.Asp976=) c.1650C= (p.Asp550=) c.2478C= (p.Asp826=) c.2454C= (p.Asp818=) n.2859C= | |
7 | g.143351902C>G | CA369654154 | CLCN1 | c.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 | |
7 | g.143351902C>T | CA4537814 | CLCN1 | c.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 |
7 | g.143351903A= | CA1748898390 | CLCN1 | c.2905A= (p.Ile969=) n.2845A= c.2929A= (p.Ile977=) c.1651A= (p.Ile551=) c.2479A= (p.Ile827=) c.2455A= (p.Ile819=) n.2860A= | |
7 | g.143351903A>C | CA369654156 | CLCN1 | c.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 | |
7 | g.143351903A>G | CA369654158 | CLCN1 | c.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 |
7 | g.143351903A>T | CA369654159 | CLCN1 | c.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 | |
7 | g.143351904T>A | CA369654161 | CLCN1 | c.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 | |
7 | g.143351904T>C | CA369654163 | CLCN1 | c.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 | |
7 | g.143351904T>G | CA369654164 | CLCN1 | c.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 | |
7 | g.143351905C>A | CA458542579 | CLCN1 | c.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 | |
7 | g.143351905C>G | CA369654166 | CLCN1 | c.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 | |
7 | g.143351905C>T | CA458542583 | CLCN1 | c.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 | |
7 | g.143351906T>A | CA369654170 | CLCN1 | c.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 | |
7 | g.143351906T>C | CA458542584 | CLCN1 | c.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 | |
7 | g.143351906T>G | CA369654171 | CLCN1 | c.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 | |
7 | g.143351907T>A | CA369654173 | CLCN1 | c.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 |
7 | g.143351907T>C | CA369654175 | CLCN1 | c.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 | |
7 | g.143351907T>G | CA4537815 | CLCN1 | c.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 |
7 | g.143351907T= | CA1748898391 | CLCN1 | c.2909T= (p.Leu970=) n.2849T= c.2933T= (p.Leu978=) c.1655T= (p.Leu552=) c.2483T= (p.Leu828=) c.2459T= (p.Leu820=) n.2864T= | |
7 | g.143351908G>A | CA458542589 | CLCN1 | c.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 |
7 | g.143351908G>C | CA369654179 | CLCN1 | c.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 | |
7 | g.143351908G>T | CA369654177 | CLCN1 | c.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 | |
7 | g.143351909C>A | CA369654181 | CLCN1 | c.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 | |
7 | g.143351909C>G | CA369654182 | CLCN1 | c.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 | |
7 | g.143351909C>T | CA369654184 | CLCN1 | c.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 | |
7 | g.143351910A= | CA1748898392 | CLCN1 | c.2912A= (p.Gln971=) n.2852A= c.2936A= (p.Gln979=) c.1658A= (p.Gln553=) c.2486A= (p.Gln829=) c.2462A= (p.Gln821=) n.2867A= | |
7 | g.143351910A>C | CA369654186 | CLCN1 | c.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 | |
7 | g.143351910A>G | CA369654187 | CLCN1 | c.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 |
7 | g.143351910A>T | CA369654189 | CLCN1 | c.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 | |
7 | g.143351911G>A | CA458542597 | CLCN1 | c.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 | |
7 | g.143351911G>C | CA369654190 | CLCN1 | c.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 | |
7 | g.143351911G>T | CA369654192 | CLCN1 | c.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 | |
7 | g.143351912G>A | CA369654193 | CLCN1 | c.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 |
7 | g.143351912G>C | CA369654195 | CLCN1 | c.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 | |
7 | g.143351912G>T | CA369654197 | CLCN1 | c.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 | |
7 | g.143351913G>A | CA369654201 | CLCN1 | c.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 |
7 | g.143351913G>C | CA369654200 | CLCN1 | c.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 | |
7 | g.143351913G>T | CA369654199 | CLCN1 | c.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 | |
7 | g.143351913_143351914delinsGC | CA1748898393 | CLCN1 | c.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 | |
7 | g.143351914C>A | CA458542607 | CLCN1 | c.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 | |
7 | g.143351914C>G | CA458542608 | CLCN1 | c.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 | |
7 | g.143351914C>T | CA458542609 | CLCN1 | c.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 | |
7 | g.143351917del | CA578626909 | CLCN1 | c.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 |
7 | g.143351915C>A | CA369654203 | CLCN1 | c.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 | |
7 | g.143351915C>G | CA369654204 | CLCN1 | c.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 | |
7 | g.143351915C>T | CA369654205 | CLCN1 | c.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 | |
7 | g.143351916C>A | CA369654207 | CLCN1 | c.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 | |
7 | g.143351916C>G | CA369654208 | CLCN1 | c.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 | |
7 | g.143351916C>T | CA369654210 | CLCN1 | c.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 | |
7 | g.143351917C>A | CA458542613 | CLCN1 | c.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 |
7 | g.143351917C= | CA1748898394 | CLCN1 | c.2919C= (p.Pro973=) n.2859C= c.2943C= (p.Pro981=) c.1665C= (p.Pro555=) c.2493C= (p.Pro831=) c.2469C= (p.Pro823=) n.2874C= | |
7 | g.143351917C>G | CA458542611 | CLCN1 | c.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 | |
7 | g.143351917C>T | CA458542612 | CLCN1 | c.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 |
7 | g.143351918A>C | CA369654211 | CLCN1 | c.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 | |
7 | g.143351918A>G | CA369654212 | CLCN1 | c.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 | |
7 | g.143351918A>T | CA369654214 | CLCN1 | c.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 | |
7 | g.143351919G>A | CA369654216 | CLCN1 | c.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 | |
7 | g.143351919G>C | CA369654218 | CLCN1 | c.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 | |
7 | g.143351919G>T | CA369654219 | CLCN1 | c.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 | |
7 | g.143351920C>A | CA369654221 | CLCN1 | c.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 | |
7 | g.143351920C= | CA1748898395 | CLCN1 | c.2922C= (p.Ser974=) n.2862C= c.2946C= (p.Ser982=) c.1668C= (p.Ser556=) c.2496C= (p.Ser832=) c.2472C= (p.Ser824=) n.2877C= | |
7 | g.143351920C>G | CA369654223 | CLCN1 | c.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 |
7 | g.143351920C>T | CA458542616 | CLCN1 | c.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 | |
7 | g.143351921C>A | CA369654224 | CLCN1 | c.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 | |
7 | g.143351921C>G | CA369654226 | CLCN1 | c.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 | |
7 | g.143351921C>T | CA458542619 | CLCN1 | c.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 | |
7 | g.143351922T>A | CA369654227 | CLCN1 | c.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 | |
7 | g.143351922T>C | CA369654229 | CLCN1 | c.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 | |
7 | g.143351922T>G | CA369654231 | CLCN1 | c.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 |