Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41970310_41970388del | CA2814441549 | ATP1A3 | c.2457+3_2459del c.2418+3_2420del c.2451+3_2453del c.2328+3_2330del | |
19 | g.41970378C>A | CA9467406 | ATP1A3 | c.2457+10G>T (n.2457+10G>T) c.2418+10G>T (n.2418+10G>T) c.2451+10G>T (n.2451+10G>T) c.2328+10G>T (n.2328+10G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970378C= | CA2336720867 | ATP1A3 | c.2457+10G= (n.2457+10G=) c.2418+10G= (n.2418+10G=) c.2451+10G= (n.2451+10G=) c.2328+10G= (n.2328+10G=) | |
19 | g.41970379A= | CA2336720870 | ATP1A3 | c.2457+9T= (n.2457+9T=) c.2418+9T= (n.2418+9T=) c.2451+9T= (n.2451+9T=) c.2328+9T= (n.2328+9T=) | |
19 | g.41970379A>C | CA882382256 | ATP1A3 | c.2457+9T>G (n.2457+9T>G) c.2418+9T>G (n.2418+9T>G) c.2451+9T>G (n.2451+9T>G) c.2328+9T>G (n.2328+9T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970379A>G | CA2585368943 | ATP1A3 | c.2457+9T>C (n.2457+9T>C) c.2418+9T>C (n.2418+9T>C) c.2451+9T>C (n.2451+9T>C) c.2328+9T>C (n.2328+9T>C) | gnomAD v4 |
19 | g.41970379A>T | CA308586479 | ATP1A3 | c.2457+9T>A (n.2457+9T>A) c.2418+9T>A (n.2418+9T>A) c.2451+9T>A (n.2451+9T>A) c.2328+9T>A (n.2328+9T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970380G>A | CA2576797079 | ATP1A3 | c.2457+8C>T (n.2457+8C>T) c.2418+8C>T (n.2418+8C>T) c.2451+8C>T (n.2451+8C>T) c.2328+8C>T (n.2328+8C>T) | ClinVar gnomAD v4 |
19 | g.41970380G>T | CA2585368944 | ATP1A3 | c.2457+8C>A (n.2457+8C>A) c.2418+8C>A (n.2418+8C>A) c.2451+8C>A (n.2451+8C>A) c.2328+8C>A (n.2328+8C>A) | gnomAD v4 |
19 | g.41970381G>C | CA2585368945 | ATP1A3 | c.2457+7C>G (n.2457+7C>G) c.2418+7C>G (n.2418+7C>G) c.2451+7C>G (n.2451+7C>G) c.2328+7C>G (n.2328+7C>G) | gnomAD v4 |
19 | g.41970381G= | CA2336720874 | ATP1A3 | c.2457+7C= (n.2457+7C=) c.2418+7C= (n.2418+7C=) c.2451+7C= (n.2451+7C=) c.2328+7C= (n.2328+7C=) | |
19 | g.41970381G>T | CA9467407 | ATP1A3 | c.2457+7C>A (n.2457+7C>A) c.2418+7C>A (n.2418+7C>A) c.2451+7C>A (n.2451+7C>A) c.2328+7C>A (n.2328+7C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970382G>T | CA2585368946 | ATP1A3 | c.2457+6C>A (n.2457+6C>A) c.2418+6C>A (n.2418+6C>A) c.2451+6C>A (n.2451+6C>A) c.2328+6C>A (n.2328+6C>A) | gnomAD v4 |
19 | g.41970383C= | CA2336720877 | ATP1A3 | c.2457+5G= (n.2457+5G=) c.2418+5G= (n.2418+5G=) c.2451+5G= (n.2451+5G=) c.2328+5G= (n.2328+5G=) | |
19 | g.41970383C>T | CA882382261 | ATP1A3 | c.2457+5G>A (n.2457+5G>A) c.2418+5G>A (n.2418+5G>A) c.2451+5G>A (n.2451+5G>A) c.2328+5G>A (n.2328+5G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970385C= | CA2336720880 | ATP1A3 | c.2457+3G= (n.2457+3G=) c.2418+3G= (n.2418+3G=) c.2451+3G= (n.2451+3G=) c.2328+3G= (n.2328+3G=) | |
19 | g.41970385C>T | CA9467408 | ATP1A3 | c.2457+3G>A (n.2457+3G>A) c.2418+3G>A (n.2418+3G>A) c.2451+3G>A (n.2451+3G>A) c.2328+3G>A (n.2328+3G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970386A>C | CA406039165 | ATP1A3 | c.2457+2T>G (n.2457+2T>G) c.2418+2T>G (n.2418+2T>G) c.2451+2T>G (n.2451+2T>G) c.2328+2T>G (n.2328+2T>G) | |
19 | g.41970386A>G | CA406039167 | ATP1A3 | c.2457+2T>C (n.2457+2T>C) c.2418+2T>C (n.2418+2T>C) c.2451+2T>C (n.2451+2T>C) c.2328+2T>C (n.2328+2T>C) | |
19 | g.41970386A>T | CA406039169 | ATP1A3 | c.2457+2T>A (n.2457+2T>A) c.2418+2T>A (n.2418+2T>A) c.2451+2T>A (n.2451+2T>A) c.2328+2T>A (n.2328+2T>A) | |
19 | g.41970387C>A | CA406039174 | ATP1A3 | c.2457+1G>T (n.2457+1G>T) c.2418+1G>T (n.2418+1G>T) c.2451+1G>T (n.2451+1G>T) c.2328+1G>T (n.2328+1G>T) | |
19 | g.41970387C>G | CA406039179 | ATP1A3 | c.2457+1G>C (n.2457+1G>C) c.2418+1G>C (n.2418+1G>C) c.2451+1G>C (n.2451+1G>C) c.2328+1G>C (n.2328+1G>C) | |
19 | g.41970387C>T | CA406039177 | ATP1A3 | c.2457+1G>A (n.2457+1G>A) c.2418+1G>A (n.2418+1G>A) c.2451+1G>A (n.2451+1G>A) c.2328+1G>A (n.2328+1G>A) | gnomAD v4 |
19 | g.41970388C>A | CA406039182 | ATP1A3 | c.2457G>T (p.Met819Ile) c.2418G>T (p.Met806Ile) c.2451G>T (p.Met817Ile) c.2328G>T (p.Met776Ile) | |
19 | g.41970388C>G | CA406039188 | ATP1A3 | c.2457G>C (p.Met819Ile) c.2418G>C (p.Met806Ile) c.2451G>C (p.Met817Ile) c.2328G>C (p.Met776Ile) | |
19 | g.41970388C>T | CA406039191 | ATP1A3 | c.2457G>A (p.Met819Ile) c.2418G>A (p.Met806Ile) c.2451G>A (p.Met817Ile) c.2328G>A (p.Met776Ile) | |
19 | g.41970389A= | CA2336720886 | ATP1A3 | c.2456T= (p.Met819=) c.2417T= (p.Met806=) c.2450T= (p.Met817=) c.2327T= (p.Met776=) | |
19 | g.41970389A>C | CA346027 | ATP1A3 | c.2456T>G (p.Met819Arg) c.2417T>G (p.Met806Arg) c.2450T>G (p.Met817Arg) c.2327T>G (p.Met776Arg) | ClinVar dbSNP |
19 | g.41970389A>G | CA406039196 | ATP1A3 | c.2456T>C (p.Met819Thr) c.2417T>C (p.Met806Thr) c.2450T>C (p.Met817Thr) c.2327T>C (p.Met776Thr) | |
19 | g.41970389A>T | CA308586497 | ATP1A3 | c.2456T>A (p.Met819Lys) c.2417T>A (p.Met806Lys) c.2450T>A (p.Met817Lys) c.2327T>A (p.Met776Lys) | dbSNP |
19 | g.41970390T>A | CA406039205 | ATP1A3 | c.2455A>T (p.Met819Leu) c.2416A>T (p.Met806Leu) c.2449A>T (p.Met817Leu) c.2326A>T (p.Met776Leu) | |
19 | g.41970390T>C | CA406039201 | ATP1A3 | c.2455A>G (p.Met819Val) c.2416A>G (p.Met806Val) c.2449A>G (p.Met817Val) c.2326A>G (p.Met776Val) | gnomAD v4 |
19 | g.41970390T>G | CA406039202 | ATP1A3 | c.2455A>C (p.Met819Leu) c.2416A>C (p.Met806Leu) c.2449A>C (p.Met817Leu) c.2326A>C (p.Met776Leu) | |
19 | g.41970391G>A | CA507694778 | ATP1A3 | c.2454C>T (p.Asp818=) c.2415C>T (p.Asp805=) c.2448C>T (p.Asp816=) c.2325C>T (p.Asp775=) | dbSNP gnomAD v4 |
19 | g.41970391G>C | CA346025 | ATP1A3 | c.2454C>G (p.Asp818Glu) c.2415C>G (p.Asp805Glu) c.2448C>G (p.Asp816Glu) c.2325C>G (p.Asp775Glu) | ClinVar dbSNP |
19 | g.41970391G= | CA2336720892 | ATP1A3 | c.2454C= (p.Asp818=) c.2415C= (p.Asp805=) c.2448C= (p.Asp816=) c.2325C= (p.Asp775=) | |
19 | g.41970391G>T | CA406039211 | ATP1A3 | c.2454C>A (p.Asp818Glu) c.2415C>A (p.Asp805Glu) c.2448C>A (p.Asp816Glu) c.2325C>A (p.Asp775Glu) | ClinVar dbSNP |
19 | g.41970392T>A | CA406039215 | ATP1A3 | c.2453A>T (p.Asp818Val) c.2414A>T (p.Asp805Val) c.2447A>T (p.Asp816Val) c.2324A>T (p.Asp775Val) | |
19 | g.41970392T>C | CA406039217 | ATP1A3 | c.2453A>G (p.Asp818Gly) c.2414A>G (p.Asp805Gly) c.2447A>G (p.Asp816Gly) c.2324A>G (p.Asp775Gly) | |
19 | g.41970392T>G | CA406039218 | ATP1A3 | c.2453A>C (p.Asp818Ala) c.2414A>C (p.Asp805Ala) c.2447A>C (p.Asp816Ala) c.2324A>C (p.Asp775Ala) | |
19 | g.41970393C>A | CA406039221 | ATP1A3 | c.2452G>T (p.Asp818Tyr) c.2413G>T (p.Asp805Tyr) c.2446G>T (p.Asp816Tyr) c.2323G>T (p.Asp775Tyr) | |
19 | g.41970393C>G | CA406039226 | ATP1A3 | c.2452G>C (p.Asp818His) c.2413G>C (p.Asp805His) c.2446G>C (p.Asp816His) c.2323G>C (p.Asp775His) | |
19 | g.41970393C>T | CA406039224 | ATP1A3 | c.2452G>A (p.Asp818Asn) c.2413G>A (p.Asp805Asn) c.2446G>A (p.Asp816Asn) c.2323G>A (p.Asp775Asn) | |
19 | g.41970394A>C | CA507694779 | ATP1A3 | c.2451T>G (p.Thr817=) c.2412T>G (p.Thr804=) c.2445T>G (p.Thr815=) c.2322T>G (p.Thr774=) | |
19 | g.41970394A>G | CA507694781 | ATP1A3 | c.2451T>C (p.Thr817=) c.2412T>C (p.Thr804=) c.2445T>C (p.Thr815=) c.2322T>C (p.Thr774=) | |
19 | g.41970394A>T | CA507694780 | ATP1A3 | c.2451T>A (p.Thr817=) c.2412T>A (p.Thr804=) c.2445T>A (p.Thr815=) c.2322T>A (p.Thr774=) | |
19 | g.41970395G>A | CA346023 | ATP1A3 | c.2450C>T (p.Thr817Ile) c.2411C>T (p.Thr804Ile) c.2444C>T (p.Thr815Ile) c.2321C>T (p.Thr774Ile) | dbSNP |
19 | g.41970395G>C | CA406039232 | ATP1A3 | c.2450C>G (p.Thr817Ser) c.2411C>G (p.Thr804Ser) c.2444C>G (p.Thr815Ser) c.2321C>G (p.Thr774Ser) | |
19 | g.41970395G= | CA2336720896 | ATP1A3 | c.2450C= (p.Thr817=) c.2411C= (p.Thr804=) c.2444C= (p.Thr815=) c.2321C= (p.Thr774=) | |
19 | g.41970395G>T | CA406039235 | ATP1A3 | c.2450C>A (p.Thr817Asn) c.2411C>A (p.Thr804Asn) c.2444C>A (p.Thr815Asn) c.2321C>A (p.Thr774Asn) | |
19 | g.41970396T>A | CA406039240 | ATP1A3 | c.2449A>T (p.Thr817Ser) c.2410A>T (p.Thr804Ser) c.2443A>T (p.Thr815Ser) c.2320A>T (p.Thr774Ser) | |
19 | g.41970396T>C | CA406039241 | ATP1A3 | c.2449A>G (p.Thr817Ala) c.2410A>G (p.Thr804Ala) c.2443A>G (p.Thr815Ala) c.2320A>G (p.Thr774Ala) | |
19 | g.41970396T>G | CA406039244 | ATP1A3 | c.2449A>C (p.Thr817Pro) c.2410A>C (p.Thr804Pro) c.2443A>C (p.Thr815Pro) c.2320A>C (p.Thr774Pro) | |
19 | g.41970397G>A | CA9467409 | ATP1A3 | c.2448C>T (p.Gly816=) c.2409C>T (p.Gly803=) c.2442C>T (p.Gly814=) c.2319C>T (p.Gly773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970397G>C | CA507694782 | ATP1A3 | c.2448C>G (p.Gly816=) c.2409C>G (p.Gly803=) c.2442C>G (p.Gly814=) c.2319C>G (p.Gly773=) | |
19 | g.41970397G= | CA2336720899 | ATP1A3 | c.2448C= (p.Gly816=) c.2409C= (p.Gly803=) c.2442C= (p.Gly814=) c.2319C= (p.Gly773=) | |
19 | g.41970397G>T | CA507694783 | ATP1A3 | c.2448C>A (p.Gly816=) c.2409C>A (p.Gly803=) c.2442C>A (p.Gly814=) c.2319C>A (p.Gly773=) | |
19 | g.41970398C>A | CA406039249 | ATP1A3 | c.2447G>T (p.Gly816Val) c.2408G>T (p.Gly803Val) c.2441G>T (p.Gly814Val) c.2318G>T (p.Gly773Val) | |
19 | g.41970398C= | CA2336720902 | ATP1A3 | c.2447G= (p.Gly816=) c.2408G= (p.Gly803=) c.2441G= (p.Gly814=) c.2318G= (p.Gly773=) | |
19 | g.41970398C>G | CA406039250 | ATP1A3 | c.2447G>C (p.Gly816Ala) c.2408G>C (p.Gly803Ala) c.2441G>C (p.Gly814Ala) c.2318G>C (p.Gly773Ala) | |
19 | g.41970398C>T | CA406039252 | ATP1A3 | c.2447G>A (p.Gly816Asp) c.2408G>A (p.Gly803Asp) c.2441G>A (p.Gly814Asp) c.2318G>A (p.Gly773Asp) | ClinVar dbSNP COSMIC |
19 | g.41970399C>A | CA406039256 | ATP1A3 | c.2446G>T (p.Gly816Cys) c.2407G>T (p.Gly803Cys) c.2440G>T (p.Gly814Cys) c.2317G>T (p.Gly773Cys) | |
19 | g.41970399C= | CA2336720909 | ATP1A3 | c.2446G= (p.Gly816=) c.2407G= (p.Gly803=) c.2440G= (p.Gly814=) c.2317G= (p.Gly773=) | |
19 | g.41970399C>G | CA406039255 | ATP1A3 | c.2446G>C (p.Gly816Arg) c.2407G>C (p.Gly803Arg) c.2440G>C (p.Gly814Arg) c.2317G>C (p.Gly773Arg) | ClinVar dbSNP |
19 | g.41970399C>T | CA406039254 | ATP1A3 | c.2446G>A (p.Gly816Ser) c.2407G>A (p.Gly803Ser) c.2440G>A (p.Gly814Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP COSMIC |
19 | g.41970400C>A | CA507694784 | ATP1A3 | c.2445G>T (p.Leu815=) c.2406G>T (p.Leu802=) c.2439G>T (p.Leu813=) c.2316G>T (p.Leu772=) | |
19 | g.41970400C= | CA2336720912 | ATP1A3 | c.2445G= (p.Leu815=) c.2406G= (p.Leu802=) c.2439G= (p.Leu813=) c.2316G= (p.Leu772=) | |
19 | g.41970400C>G | CA507694786 | ATP1A3 | c.2445G>C (p.Leu815=) c.2406G>C (p.Leu802=) c.2439G>C (p.Leu813=) c.2316G>C (p.Leu772=) | |
19 | g.41970400C>T | CA507694787 | ATP1A3 | c.2445G>A (p.Leu815=) c.2406G>A (p.Leu802=) c.2439G>A (p.Leu813=) c.2316G>A (p.Leu772=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970401A>C | CA406039257 | ATP1A3 | c.2444T>G (p.Leu815Arg) c.2405T>G (p.Leu802Arg) c.2438T>G (p.Leu813Arg) c.2315T>G (p.Leu772Arg) | |
19 | g.41970401A>G | CA406039261 | ATP1A3 | c.2444T>C (p.Leu815Pro) c.2405T>C (p.Leu802Pro) c.2438T>C (p.Leu813Pro) c.2315T>C (p.Leu772Pro) | |
19 | g.41970401A>T | CA406039258 | ATP1A3 | c.2444T>A (p.Leu815Gln) c.2405T>A (p.Leu802Gln) c.2438T>A (p.Leu813Gln) c.2315T>A (p.Leu772Gln) | |
19 | g.41970402G>A | CA507694788 | ATP1A3 | c.2443C>T (p.Leu815=) c.2404C>T (p.Leu802=) c.2437C>T (p.Leu813=) c.2314C>T (p.Leu772=) | |
19 | g.41970402G>C | CA406039272 | ATP1A3 | c.2443C>G (p.Leu815Val) c.2404C>G (p.Leu802Val) c.2437C>G (p.Leu813Val) c.2314C>G (p.Leu772Val) | |
19 | g.41970402G>T | CA406039274 | ATP1A3 | c.2443C>A (p.Leu815Met) c.2404C>A (p.Leu802Met) c.2437C>A (p.Leu813Met) c.2314C>A (p.Leu772Met) | |
19 | g.41970403A= | CA2336720913 | ATP1A3 | c.2442T= (p.Asp814=) c.2403T= (p.Asp801=) c.2436T= (p.Asp812=) c.2313T= (p.Asp771=) | |
19 | g.41970403A>C | CA406039276 | ATP1A3 | c.2442T>G (p.Asp814Glu) c.2403T>G (p.Asp801Glu) c.2436T>G (p.Asp812Glu) c.2313T>G (p.Asp771Glu) | |
19 | g.41970403A>G | CA507694789 | ATP1A3 | c.2442T>C (p.Asp814=) c.2403T>C (p.Asp801=) c.2436T>C (p.Asp812=) c.2313T>C (p.Asp771=) | dbSNP |
19 | g.41970403A>T | CA406039278 | ATP1A3 | c.2442T>A (p.Asp814Glu) c.2403T>A (p.Asp801Glu) c.2436T>A (p.Asp812Glu) c.2313T>A (p.Asp771Glu) | ClinVar dbSNP |
19 | g.41970404T>A | CA406039282 | ATP1A3 | c.2441A>T (p.Asp814Val) c.2402A>T (p.Asp801Val) c.2435A>T (p.Asp812Val) c.2312A>T (p.Asp771Val) | |
19 | g.41970404T>C | CA406039285 | ATP1A3 | c.2441A>G (p.Asp814Gly) c.2402A>G (p.Asp801Gly) c.2435A>G (p.Asp812Gly) c.2312A>G (p.Asp771Gly) | |
19 | g.41970404T>G | CA406039286 | ATP1A3 | c.2441A>C (p.Asp814Ala) c.2402A>C (p.Asp801Ala) c.2435A>C (p.Asp812Ala) c.2312A>C (p.Asp771Ala) | |
19 | g.41970405C>A | CA341238 | ATP1A3 | c.2440G>T (p.Asp814Tyr) c.2401G>T (p.Asp801Tyr) c.2434G>T (p.Asp812Tyr) c.2311G>T (p.Asp771Tyr) | ClinVar dbSNP |
19 | g.41970405C= | CA2336720927 | ATP1A3 | c.2440G= (p.Asp814=) c.2401G= (p.Asp801=) c.2434G= (p.Asp812=) c.2311G= (p.Asp771=) | |
19 | g.41970405C>G | CA207845 | ATP1A3 | c.2440G>C (p.Asp814His) c.2401G>C (p.Asp801His) c.2434G>C (p.Asp812His) c.2311G>C (p.Asp771His) | ClinVar dbSNP |
19 | g.41970405C>T | CA342902 | ATP1A3 | c.2440G>A (p.Asp814Asn) c.2401G>A (p.Asp801Asn) c.2434G>A (p.Asp812Asn) c.2311G>A (p.Asp771Asn) | ClinVar dbSNP COSMIC |
19 | g.41970406G>A | CA9467410 | ATP1A3 | c.2439C>T (p.Ile813=) c.2400C>T (p.Ile800=) c.2433C>T (p.Ile811=) c.2310C>T (p.Ile770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.41970406G>C | CA406039295 | ATP1A3 | c.2439C>G (p.Ile813Met) c.2400C>G (p.Ile800Met) c.2433C>G (p.Ile811Met) c.2310C>G (p.Ile770Met) | |
19 | g.41970406G= | CA2336720929 | ATP1A3 | c.2439C= (p.Ile813=) c.2400C= (p.Ile800=) c.2433C= (p.Ile811=) c.2310C= (p.Ile770=) | |
19 | g.41970406G>T | CA507694790 | ATP1A3 | c.2439C>A (p.Ile813=) c.2400C>A (p.Ile800=) c.2433C>A (p.Ile811=) c.2310C>A (p.Ile770=) | |
19 | g.41970407A>C | CA406039298 | ATP1A3 | c.2438T>G (p.Ile813Ser) c.2399T>G (p.Ile800Ser) c.2432T>G (p.Ile811Ser) c.2309T>G (p.Ile770Ser) | |
19 | g.41970407A>G | CA406039301 | ATP1A3 | c.2438T>C (p.Ile813Thr) c.2399T>C (p.Ile800Thr) c.2432T>C (p.Ile811Thr) c.2309T>C (p.Ile770Thr) | |
19 | g.41970407A>T | CA406039303 | ATP1A3 | c.2438T>A (p.Ile813Asn) c.2399T>A (p.Ile800Asn) c.2432T>A (p.Ile811Asn) c.2309T>A (p.Ile770Asn) | |
19 | g.41970408T>A | CA406039308 | ATP1A3 | c.2437A>T (p.Ile813Phe) c.2398A>T (p.Ile800Phe) c.2431A>T (p.Ile811Phe) c.2308A>T (p.Ile770Phe) | |
19 | g.41970408T>C | CA406039311 | ATP1A3 | c.2437A>G (p.Ile813Val) c.2398A>G (p.Ile800Val) c.2431A>G (p.Ile811Val) c.2308A>G (p.Ile770Val) | |
19 | g.41970408T>G | CA406039309 | ATP1A3 | c.2437A>C (p.Ile813Leu) c.2398A>C (p.Ile800Leu) c.2431A>C (p.Ile811Leu) c.2308A>C (p.Ile770Leu) | |
19 | g.41970409G>A | CA507694791 | ATP1A3 | c.2436C>T (p.Cys812=) c.2397C>T (p.Cys799=) c.2430C>T (p.Cys810=) c.2307C>T (p.Cys769=) | |
19 | g.41970409G>C | CA406039313 | ATP1A3 | c.2436C>G (p.Cys812Trp) c.2397C>G (p.Cys799Trp) c.2430C>G (p.Cys810Trp) c.2307C>G (p.Cys769Trp) | |
19 | g.41970409G>T | CA406039315 | ATP1A3 | c.2436C>A (p.Cys812Ter) c.2397C>A (p.Cys799Ter) c.2430C>A (p.Cys810Ter) c.2307C>A (p.Cys769Ter) | |
19 | g.41970410C>A | CA406039318 | ATP1A3 | c.2435G>T (p.Cys812Phe) c.2396G>T (p.Cys799Phe) c.2429G>T (p.Cys810Phe) c.2306G>T (p.Cys769Phe) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970410C= | CA2336720933 | ATP1A3 | c.2435G= (p.Cys812=) c.2396G= (p.Cys799=) c.2429G= (p.Cys810=) c.2306G= (p.Cys769=) | |
19 | g.41970410C>G | CA406039321 | ATP1A3 | c.2435G>C (p.Cys812Ser) c.2396G>C (p.Cys799Ser) c.2429G>C (p.Cys810Ser) c.2306G>C (p.Cys769Ser) | |
19 | g.41970410C>T | CA406039323 | ATP1A3 | c.2435G>A (p.Cys812Tyr) c.2396G>A (p.Cys799Tyr) c.2429G>A (p.Cys810Tyr) c.2306G>A (p.Cys769Tyr) | dbSNP |
19 | g.41970411A>C | CA406039327 | ATP1A3 | c.2434T>G (p.Cys812Gly) c.2395T>G (p.Cys799Gly) c.2428T>G (p.Cys810Gly) c.2305T>G (p.Cys769Gly) | |
19 | g.41970411A>G | CA406039329 | ATP1A3 | c.2434T>C (p.Cys812Arg) c.2395T>C (p.Cys799Arg) c.2428T>C (p.Cys810Arg) c.2305T>C (p.Cys769Arg) | ClinVar |
19 | g.41970411A>T | CA406039331 | ATP1A3 | c.2434T>A (p.Cys812Ser) c.2395T>A (p.Cys799Ser) c.2428T>A (p.Cys810Ser) c.2305T>A (p.Cys769Ser) | |
19 | g.41970412G>A | CA507694792 | ATP1A3 | c.2433C>T (p.Leu811=) c.2394C>T (p.Leu798=) c.2427C>T (p.Leu809=) c.2304C>T (p.Leu768=) | |
19 | g.41970412G>C | CA507694793 | ATP1A3 | c.2433C>G (p.Leu811=) c.2394C>G (p.Leu798=) c.2427C>G (p.Leu809=) c.2304C>G (p.Leu768=) | |
19 | g.41970412G>T | CA507694794 | ATP1A3 | c.2433C>A (p.Leu811=) c.2394C>A (p.Leu798=) c.2427C>A (p.Leu809=) c.2304C>A (p.Leu768=) | |
19 | g.41970413A= | CA2336720938 | ATP1A3 | c.2432T= (p.Leu811=) c.2393T= (p.Leu798=) c.2426T= (p.Leu809=) c.2303T= (p.Leu768=) | |
19 | g.41970413A>C | CA406039334 | ATP1A3 | c.2432T>G (p.Leu811Arg) c.2393T>G (p.Leu798Arg) c.2426T>G (p.Leu809Arg) c.2303T>G (p.Leu768Arg) | |
19 | g.41970413A>G | CA406039337 | ATP1A3 | c.2432T>C (p.Leu811Pro) c.2393T>C (p.Leu798Pro) c.2426T>C (p.Leu809Pro) c.2303T>C (p.Leu768Pro) | ClinVar dbSNP |
19 | g.41970413A>T | CA406039340 | ATP1A3 | c.2432T>A (p.Leu811His) c.2393T>A (p.Leu798His) c.2426T>A (p.Leu809His) c.2303T>A (p.Leu768His) | |
19 | g.41970414G>A | CA406039343 | ATP1A3 | c.2431C>T (p.Leu811Phe) c.2392C>T (p.Leu798Phe) c.2425C>T (p.Leu809Phe) c.2302C>T (p.Leu768Phe) | COSMIC |
19 | g.41970414G>C | CA406039350 | ATP1A3 | c.2431C>G (p.Leu811Val) c.2392C>G (p.Leu798Val) c.2425C>G (p.Leu809Val) c.2302C>G (p.Leu768Val) | |
19 | g.41970414G>T | CA406039345 | ATP1A3 | c.2431C>A (p.Leu811Ile) c.2392C>A (p.Leu798Ile) c.2425C>A (p.Leu809Ile) c.2302C>A (p.Leu768Ile) | |
19 | g.41970415G>A | CA507694796 | ATP1A3 | c.2430C>T (p.Ile810=) c.2391C>T (p.Ile797=) c.2424C>T (p.Ile808=) c.2301C>T (p.Ile767=) | |
19 | g.41970415G>C | CA406039352 | ATP1A3 | c.2430C>G (p.Ile810Met) c.2391C>G (p.Ile797Met) c.2424C>G (p.Ile808Met) c.2301C>G (p.Ile767Met) | |
19 | g.41970415G>T | CA507694795 | ATP1A3 | c.2430C>A (p.Ile810=) c.2391C>A (p.Ile797=) c.2424C>A (p.Ile808=) c.2301C>A (p.Ile767=) | |
19 | g.41970416A>C | CA406039354 | ATP1A3 | c.2429T>G (p.Ile810Ser) c.2390T>G (p.Ile797Ser) c.2423T>G (p.Ile808Ser) c.2300T>G (p.Ile767Ser) | |
19 | g.41970416A>G | CA406039357 | ATP1A3 | c.2429T>C (p.Ile810Thr) c.2390T>C (p.Ile797Thr) c.2423T>C (p.Ile808Thr) c.2300T>C (p.Ile767Thr) | |
19 | g.41970416A>T | CA406039360 | ATP1A3 | c.2429T>A (p.Ile810Asn) c.2390T>A (p.Ile797Asn) c.2423T>A (p.Ile808Asn) c.2300T>A (p.Ile767Asn) | |
19 | g.41970417T>A | CA406039363 | ATP1A3 | c.2428A>T (p.Ile810Phe) c.2389A>T (p.Ile797Phe) c.2422A>T (p.Ile808Phe) c.2299A>T (p.Ile767Phe) | |
19 | g.41970417T>C | CA406039364 | ATP1A3 | c.2428A>G (p.Ile810Val) c.2389A>G (p.Ile797Val) c.2422A>G (p.Ile808Val) c.2299A>G (p.Ile767Val) | |
19 | g.41970417T>G | CA406039365 | ATP1A3 | c.2428A>C (p.Ile810Leu) c.2389A>C (p.Ile797Leu) c.2422A>C (p.Ile808Leu) c.2299A>C (p.Ile767Leu) | |
19 | g.41970418G>A | CA507694797 | ATP1A3 | c.2427C>T (p.Thr809=) c.2388C>T (p.Thr796=) c.2421C>T (p.Thr807=) c.2298C>T (p.Thr766=) | |
19 | g.41970418G>C | CA507694798 | ATP1A3 | c.2427C>G (p.Thr809=) c.2388C>G (p.Thr796=) c.2421C>G (p.Thr807=) c.2298C>G (p.Thr766=) | |
19 | g.41970418G>T | CA507694799 | ATP1A3 | c.2427C>A (p.Thr809=) c.2388C>A (p.Thr796=) c.2421C>A (p.Thr807=) c.2298C>A (p.Thr766=) | |
19 | g.41970419G>A | CA406039367 | ATP1A3 | c.2426C>T (p.Thr809Ile) c.2387C>T (p.Thr796Ile) c.2420C>T (p.Thr807Ile) c.2297C>T (p.Thr766Ile) | |
19 | g.41970419G>C | CA406039369 | ATP1A3 | c.2426C>G (p.Thr809Ser) c.2387C>G (p.Thr796Ser) c.2420C>G (p.Thr807Ser) c.2297C>G (p.Thr766Ser) | |
19 | g.41970419G>T | CA406039370 | ATP1A3 | c.2426C>A (p.Thr809Asn) c.2387C>A (p.Thr796Asn) c.2420C>A (p.Thr807Asn) c.2297C>A (p.Thr766Asn) | |
19 | g.41970420T>A | CA406039372 | ATP1A3 | c.2425A>T (p.Thr809Ser) c.2386A>T (p.Thr796Ser) c.2419A>T (p.Thr807Ser) c.2296A>T (p.Thr766Ser) | |
19 | g.41970420T>C | CA406039374 | ATP1A3 | c.2425A>G (p.Thr809Ala) c.2386A>G (p.Thr796Ala) c.2419A>G (p.Thr807Ala) c.2296A>G (p.Thr766Ala) | |
19 | g.41970420T>G | CA406039375 | ATP1A3 | c.2425A>C (p.Thr809Pro) c.2386A>C (p.Thr796Pro) c.2419A>C (p.Thr807Pro) c.2296A>C (p.Thr766Pro) | dbSNP |
19 | g.41970420T= | CA2336720941 | ATP1A3 | c.2425A= (p.Thr809=) c.2386A= (p.Thr796=) c.2419A= (p.Thr807=) c.2296A= (p.Thr766=) | |
19 | g.41970421G>A | CA507694801 | ATP1A3 | c.2424C>T (p.Ile808=) c.2385C>T (p.Ile795=) c.2418C>T (p.Ile806=) c.2295C>T (p.Ile765=) | |
19 | g.41970421G>C | CA406039376 | ATP1A3 | c.2424C>G (p.Ile808Met) c.2385C>G (p.Ile795Met) c.2418C>G (p.Ile806Met) c.2295C>G (p.Ile765Met) | |
19 | g.41970421G>T | CA507694800 | ATP1A3 | c.2424C>A (p.Ile808=) c.2385C>A (p.Ile795=) c.2418C>A (p.Ile806=) c.2295C>A (p.Ile765=) | |
19 | g.41970422A>C | CA406039377 | ATP1A3 | c.2423T>G (p.Ile808Ser) c.2384T>G (p.Ile795Ser) c.2417T>G (p.Ile806Ser) c.2294T>G (p.Ile765Ser) | |
19 | g.41970422A>G | CA406039379 | ATP1A3 | c.2423T>C (p.Ile808Thr) c.2384T>C (p.Ile795Thr) c.2417T>C (p.Ile806Thr) c.2294T>C (p.Ile765Thr) | |
19 | g.41970422A>T | CA406039381 | ATP1A3 | c.2423T>A (p.Ile808Asn) c.2384T>A (p.Ile795Asn) c.2417T>A (p.Ile806Asn) c.2294T>A (p.Ile765Asn) | |
19 | g.41970423T>A | CA406039382 | ATP1A3 | c.2422A>T (p.Ile808Phe) c.2383A>T (p.Ile795Phe) c.2416A>T (p.Ile806Phe) c.2293A>T (p.Ile765Phe) | dbSNP |
19 | g.41970423T>C | CA406039383 | ATP1A3 | c.2422A>G (p.Ile808Val) c.2383A>G (p.Ile795Val) c.2416A>G (p.Ile806Val) c.2293A>G (p.Ile765Val) | |
19 | g.41970423T>G | CA406039385 | ATP1A3 | c.2422A>C (p.Ile808Leu) c.2383A>C (p.Ile795Leu) c.2416A>C (p.Ile806Leu) c.2293A>C (p.Ile765Leu) | |
19 | g.41970423T= | CA2336720942 | ATP1A3 | c.2422A= (p.Ile808=) c.2383A= (p.Ile795=) c.2416A= (p.Ile806=) c.2293A= (p.Ile765=) | |
19 | g.41970424G>A | CA507694802 | ATP1A3 | c.2421C>T (p.Thr807=) c.2382C>T (p.Thr794=) c.2415C>T (p.Thr805=) c.2292C>T (p.Thr764=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.41970424G>C | CA507694803 | ATP1A3 | c.2421C>G (p.Thr807=) c.2382C>G (p.Thr794=) c.2415C>G (p.Thr805=) c.2292C>G (p.Thr764=) | |
19 | g.41970424G= | CA2336720943 | ATP1A3 | c.2421C= (p.Thr807=) c.2382C= (p.Thr794=) c.2415C= (p.Thr805=) c.2292C= (p.Thr764=) | |
19 | g.41970424G>T | CA507694804 | ATP1A3 | c.2421C>A (p.Thr807=) c.2382C>A (p.Thr794=) c.2415C>A (p.Thr805=) c.2292C>A (p.Thr764=) | dbSNP |
19 | g.41970425G>A | CA406039387 | ATP1A3 | c.2420C>T (p.Thr807Ile) c.2381C>T (p.Thr794Ile) c.2414C>T (p.Thr805Ile) c.2291C>T (p.Thr764Ile) | |
19 | g.41970425G>C | CA406039389 | ATP1A3 | c.2420C>G (p.Thr807Ser) c.2381C>G (p.Thr794Ser) c.2414C>G (p.Thr805Ser) c.2291C>G (p.Thr764Ser) | |
19 | g.41970425G>T | CA406039390 | ATP1A3 | c.2420C>A (p.Thr807Asn) c.2381C>A (p.Thr794Asn) c.2414C>A (p.Thr805Asn) c.2291C>A (p.Thr764Asn) | |
19 | g.41970426T>A | CA406039392 | ATP1A3 | c.2419A>T (p.Thr807Ser) c.2380A>T (p.Thr794Ser) c.2413A>T (p.Thr805Ser) c.2290A>T (p.Thr764Ser) | |
19 | g.41970426T>C | CA406039394 | ATP1A3 | c.2419A>G (p.Thr807Ala) c.2380A>G (p.Thr794Ala) c.2413A>G (p.Thr805Ala) c.2290A>G (p.Thr764Ala) | |
19 | g.41970426T>G | CA406039395 | ATP1A3 | c.2419A>C (p.Thr807Pro) c.2380A>C (p.Thr794Pro) c.2413A>C (p.Thr805Pro) c.2290A>C (p.Thr764Pro) | |
19 | g.41970427G>A | CA507694805 | ATP1A3 | c.2418C>T (p.Gly806=) c.2379C>T (p.Gly793=) c.2412C>T (p.Gly804=) c.2289C>T (p.Gly763=) | |
19 | g.41970427G>C | CA507694806 | ATP1A3 | c.2418C>G (p.Gly806=) c.2379C>G (p.Gly793=) c.2412C>G (p.Gly804=) c.2289C>G (p.Gly763=) | |
19 | g.41970427G>T | CA507694807 | ATP1A3 | c.2418C>A (p.Gly806=) c.2379C>A (p.Gly793=) c.2412C>A (p.Gly804=) c.2289C>A (p.Gly763=) | |
19 | g.41970428C>A | CA406039399 | ATP1A3 | c.2417G>T (p.Gly806Val) c.2378G>T (p.Gly793Val) c.2411G>T (p.Gly804Val) c.2288G>T (p.Gly763Val) | |
19 | g.41970428C>G | CA406039398 | ATP1A3 | c.2417G>C (p.Gly806Ala) c.2378G>C (p.Gly793Ala) c.2411G>C (p.Gly804Ala) c.2288G>C (p.Gly763Ala) | |
19 | g.41970428C>T | CA406039396 | ATP1A3 | c.2417G>A (p.Gly806Asp) c.2378G>A (p.Gly793Asp) c.2411G>A (p.Gly804Asp) c.2288G>A (p.Gly763Asp) | |
19 | g.41970429C>A | CA406039400 | ATP1A3 | c.2416G>T (p.Gly806Cys) c.2377G>T (p.Gly793Cys) c.2410G>T (p.Gly804Cys) c.2287G>T (p.Gly763Cys) | COSMIC |
19 | g.41970429C>G | CA406039401 | ATP1A3 | c.2416G>C (p.Gly806Arg) c.2377G>C (p.Gly793Arg) c.2410G>C (p.Gly804Arg) c.2287G>C (p.Gly763Arg) | |
19 | g.41970429C>T | CA406039402 | ATP1A3 | c.2416G>A (p.Gly806Ser) c.2377G>A (p.Gly793Ser) c.2410G>A (p.Gly804Ser) c.2287G>A (p.Gly763Ser) | gnomAD v4 |
19 | g.41970430C>A | CA507694808 | ATP1A3 | c.2415G>T (p.Leu805=) c.2376G>T (p.Leu792=) c.2409G>T (p.Leu803=) c.2286G>T (p.Leu762=) | |
19 | g.41970430C= | CA2336720945 | ATP1A3 | c.2415G= (p.Leu805=) c.2376G= (p.Leu792=) c.2409G= (p.Leu803=) c.2286G= (p.Leu762=) | |
19 | g.41970430C>G | CA507694809 | ATP1A3 | c.2415G>C (p.Leu805=) c.2376G>C (p.Leu792=) c.2409G>C (p.Leu803=) c.2286G>C (p.Leu762=) | |
19 | g.41970430C>T | CA507694810 | ATP1A3 | c.2415G>A (p.Leu805=) c.2376G>A (p.Leu792=) c.2409G>A (p.Leu803=) c.2286G>A (p.Leu762=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970430_41970431delinsCA | CA2336720946 | ATP1A3 | c.2414_2415delinsTG (p.Leu805=) c.2375_2376delinsTG (p.Leu792=) c.2408_2409delinsTG (p.Leu803=) c.2285_2286delinsTG (p.Leu762=) | |
19 | g.41970431del | CA2336720948 | ATP1A3 | c.2414del (p.Leu805ArgfsTer?) c.2375del (p.Leu792ArgfsTer?) c.2408del (p.Leu803ArgfsTer?) c.2285del (p.Leu762ArgfsTer?) | dbSNP gnomAD v4 |
19 | g.41970431A= | CA2336720949 | ATP1A3 | c.2414T= (p.Leu805=) c.2375T= (p.Leu792=) c.2408T= (p.Leu803=) c.2285T= (p.Leu762=) | |
19 | g.41970431A>C | CA406039403 | ATP1A3 | c.2414T>G (p.Leu805Arg) c.2375T>G (p.Leu792Arg) c.2408T>G (p.Leu803Arg) c.2285T>G (p.Leu762Arg) | |
19 | g.41970431A>G | CA406039404 | ATP1A3 | c.2414T>C (p.Leu805Pro) c.2375T>C (p.Leu792Pro) c.2408T>C (p.Leu803Pro) c.2285T>C (p.Leu762Pro) | |
19 | g.41970431A>T | CA406039405 | ATP1A3 | c.2414T>A (p.Leu805Gln) c.2375T>A (p.Leu792Gln) c.2408T>A (p.Leu803Gln) c.2285T>A (p.Leu762Gln) | |
19 | g.41970432G>A | CA507694811 | ATP1A3 | c.2413C>T (p.Leu805=) c.2374C>T (p.Leu792=) c.2407C>T (p.Leu803=) c.2284C>T (p.Leu762=) | gnomAD v4 |
19 | g.41970432G>C | CA406039407 | ATP1A3 | c.2413C>G (p.Leu805Val) c.2374C>G (p.Leu792Val) c.2407C>G (p.Leu803Val) c.2284C>G (p.Leu762Val) | |
19 | g.41970432G>T | CA406039406 | ATP1A3 | c.2413C>A (p.Leu805Met) c.2374C>A (p.Leu792Met) c.2407C>A (p.Leu803Met) c.2284C>A (p.Leu762Met) | |
19 | g.41970435dup | CA2336720951 | ATP1A3 | c.2413dup (p.Leu805ProfsTer14) c.2374dup (p.Leu792ProfsTer14) c.2407dup (p.Leu803ProfsTer14) c.2284dup (p.Leu762ProfsTer14) | dbSNP |
19 | g.41970433G>A | CA507694812 | ATP1A3 | c.2412C>T (p.Pro804=) c.2373C>T (p.Pro791=) c.2406C>T (p.Pro802=) c.2283C>T (p.Pro761=) | gnomAD v4 |
19 | g.41970433G>C | CA507694813 | ATP1A3 | c.2412C>G (p.Pro804=) c.2373C>G (p.Pro791=) c.2406C>G (p.Pro802=) c.2283C>G (p.Pro761=) | |
19 | g.41970433G>T | CA507694814 | ATP1A3 | c.2412C>A (p.Pro804=) c.2373C>A (p.Pro791=) c.2406C>A (p.Pro802=) c.2283C>A (p.Pro761=) | |
19 | g.41970434G>A | CA406039408 | ATP1A3 | c.2411C>T (p.Pro804Leu) c.2372C>T (p.Pro791Leu) c.2405C>T (p.Pro802Leu) c.2282C>T (p.Pro761Leu) | |
19 | g.41970434G>C | CA406039409 | ATP1A3 | c.2411C>G (p.Pro804Arg) c.2372C>G (p.Pro791Arg) c.2405C>G (p.Pro802Arg) c.2282C>G (p.Pro761Arg) | |
19 | g.41970434G>T | CA406039410 | ATP1A3 | c.2411C>A (p.Pro804His) c.2372C>A (p.Pro791His) c.2405C>A (p.Pro802His) c.2282C>A (p.Pro761His) | |
19 | g.41970435G>A | CA406039411 | ATP1A3 | c.2410C>T (p.Pro804Ser) c.2371C>T (p.Pro791Ser) c.2404C>T (p.Pro802Ser) c.2281C>T (p.Pro761Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.41970435G>C | CA406039412 | ATP1A3 | c.2410C>G (p.Pro804Ala) c.2371C>G (p.Pro791Ala) c.2404C>G (p.Pro802Ala) c.2281C>G (p.Pro761Ala) | |
19 | g.41970435G= | CA2336720953 | ATP1A3 | c.2410C= (p.Pro804=) c.2371C= (p.Pro791=) c.2404C= (p.Pro802=) c.2281C= (p.Pro761=) | |
19 | g.41970435G>T | CA406039413 | ATP1A3 | c.2410C>A (p.Pro804Thr) c.2371C>A (p.Pro791Thr) c.2404C>A (p.Pro802Thr) c.2281C>A (p.Pro761Thr) | |
19 | g.41970436C>A | CA507694815 | ATP1A3 | c.2409G>T (p.Leu803=) c.2370G>T (p.Leu790=) c.2403G>T (p.Leu801=) c.2280G>T (p.Leu760=) | |
19 | g.41970436C= | CA2336720955 | ATP1A3 | c.2409G= (p.Leu803=) c.2370G= (p.Leu790=) c.2403G= (p.Leu801=) c.2280G= (p.Leu760=) | |
19 | g.41970436C>G | CA507694816 | ATP1A3 | c.2409G>C (p.Leu803=) c.2370G>C (p.Leu790=) c.2403G>C (p.Leu801=) c.2280G>C (p.Leu760=) | |
19 | g.41970436C>T | CA507694817 | ATP1A3 | c.2409G>A (p.Leu803=) c.2370G>A (p.Leu790=) c.2403G>A (p.Leu801=) c.2280G>A (p.Leu760=) | dbSNP |
19 | g.41970437A>C | CA406039416 | ATP1A3 | c.2408T>G (p.Leu803Arg) c.2369T>G (p.Leu790Arg) c.2402T>G (p.Leu801Arg) c.2279T>G (p.Leu760Arg) | |
19 | g.41970437A>G | CA406039414 | ATP1A3 | c.2408T>C (p.Leu803Pro) c.2369T>C (p.Leu790Pro) c.2402T>C (p.Leu801Pro) c.2279T>C (p.Leu760Pro) | |
19 | g.41970437A>T | CA406039415 | ATP1A3 | c.2408T>A (p.Leu803Gln) c.2369T>A (p.Leu790Gln) c.2402T>A (p.Leu801Gln) c.2279T>A (p.Leu760Gln) | |
19 | g.41970438G>A | CA507694818 | ATP1A3 | c.2407C>T (p.Leu803=) c.2368C>T (p.Leu790=) c.2401C>T (p.Leu801=) c.2278C>T (p.Leu760=) | gnomAD v4 |
19 | g.41970438G>C | CA406039417 | ATP1A3 | c.2407C>G (p.Leu803Val) c.2368C>G (p.Leu790Val) c.2401C>G (p.Leu801Val) c.2278C>G (p.Leu760Val) | |
19 | g.41970438G>T | CA406039418 | ATP1A3 | c.2407C>A (p.Leu803Met) c.2368C>A (p.Leu790Met) c.2401C>A (p.Leu801Met) c.2278C>A (p.Leu760Met) | |
19 | g.41970439C>A | CA507694819 | ATP1A3 | c.2406G>T (p.Pro802=) c.2367G>T (p.Pro789=) c.2400G>T (p.Pro800=) c.2277G>T (p.Pro759=) | gnomAD v4 |
19 | g.41970439C= | CA2336720957 | ATP1A3 | c.2406G= (p.Pro802=) c.2367G= (p.Pro789=) c.2400G= (p.Pro800=) c.2277G= (p.Pro759=) | |
19 | g.41970439C>G | CA507694820 | ATP1A3 | c.2406G>C (p.Pro802=) c.2367G>C (p.Pro789=) c.2400G>C (p.Pro800=) c.2277G>C (p.Pro759=) | |
19 | g.41970439C>T | CA9467411 | ATP1A3 | c.2406G>A (p.Pro802=) c.2367G>A (p.Pro789=) c.2400G>A (p.Pro800=) c.2277G>A (p.Pro759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.41970440G>A | CA406039421 | ATP1A3 | c.2405C>T (p.Pro802Leu) c.2366C>T (p.Pro789Leu) c.2399C>T (p.Pro800Leu) c.2276C>T (p.Pro759Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.41970440G>C | CA406039422 | ATP1A3 | c.2405C>G (p.Pro802Arg) c.2366C>G (p.Pro789Arg) c.2399C>G (p.Pro800Arg) c.2276C>G (p.Pro759Arg) | |
19 | g.41970440G>T | CA406039423 | ATP1A3 | c.2405C>A (p.Pro802Gln) c.2366C>A (p.Pro789Gln) c.2399C>A (p.Pro800Gln) c.2276C>A (p.Pro759Gln) | |
19 | g.41970441G>A | CA406039425 | ATP1A3 | c.2404C>T (p.Pro802Ser) c.2365C>T (p.Pro789Ser) c.2398C>T (p.Pro800Ser) c.2275C>T (p.Pro759Ser) | |
19 | g.41970441G>C | CA406039426 | ATP1A3 | c.2404C>G (p.Pro802Ala) c.2365C>G (p.Pro789Ala) c.2398C>G (p.Pro800Ala) c.2275C>G (p.Pro759Ala) | gnomAD v4 |
19 | g.41970441G>T | CA406039428 | ATP1A3 | c.2404C>A (p.Pro802Thr) c.2365C>A (p.Pro789Thr) c.2398C>A (p.Pro800Thr) c.2275C>A (p.Pro759Thr) | |
19 | g.41970442G>A | CA507694821 | ATP1A3 | c.2403C>T (p.Ile801=) c.2364C>T (p.Ile788=) c.2397C>T (p.Ile799=) c.2274C>T (p.Ile758=) | ClinVar dbSNP |
19 | g.41970442G>C | CA406039430 | ATP1A3 | c.2403C>G (p.Ile801Met) c.2364C>G (p.Ile788Met) c.2397C>G (p.Ile799Met) c.2274C>G (p.Ile758Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970442G= | CA2336720961 | ATP1A3 | c.2403C= (p.Ile801=) c.2364C= (p.Ile788=) c.2397C= (p.Ile799=) c.2274C= (p.Ile758=) | |
19 | g.41970442G>T | CA507694822 | ATP1A3 | c.2403C>A (p.Ile801=) c.2364C>A (p.Ile788=) c.2397C>A (p.Ile799=) c.2274C>A (p.Ile758=) | ClinVar gnomAD v4 |
19 | g.41970443A>C | CA406039432 | ATP1A3 | c.2402T>G (p.Ile801Ser) c.2363T>G (p.Ile788Ser) c.2396T>G (p.Ile799Ser) c.2273T>G (p.Ile758Ser) | |
19 | g.41970443A>G | CA406039434 | ATP1A3 | c.2402T>C (p.Ile801Thr) c.2363T>C (p.Ile788Thr) c.2396T>C (p.Ile799Thr) c.2273T>C (p.Ile758Thr) | |
19 | g.41970443A>T | CA406039436 | ATP1A3 | c.2402T>A (p.Ile801Asn) c.2363T>A (p.Ile788Asn) c.2396T>A (p.Ile799Asn) c.2273T>A (p.Ile758Asn) | |
19 | g.41970444T>A | CA406039438 | ATP1A3 | c.2401A>T (p.Ile801Phe) c.2362A>T (p.Ile788Phe) c.2395A>T (p.Ile799Phe) c.2272A>T (p.Ile758Phe) | |
19 | g.41970444T>C | CA406039442 | ATP1A3 | c.2401A>G (p.Ile801Val) c.2362A>G (p.Ile788Val) c.2395A>G (p.Ile799Val) c.2272A>G (p.Ile758Val) | |
19 | g.41970444T>G | CA406039439 | ATP1A3 | c.2401A>C (p.Ile801Leu) c.2362A>C (p.Ile788Leu) c.2395A>C (p.Ile799Leu) c.2272A>C (p.Ile758Leu) | |
19 | g.41970445G>A | CA507694823 | ATP1A3 | c.2400C>T (p.Asn800=) c.2361C>T (p.Asn787=) c.2394C>T (p.Asn798=) c.2271C>T (p.Asn757=) | gnomAD v4 |
19 | g.41970445G>C | CA406039443 | ATP1A3 | c.2400C>G (p.Asn800Lys) c.2361C>G (p.Asn787Lys) c.2394C>G (p.Asn798Lys) c.2271C>G (p.Asn757Lys) | |
19 | g.41970445G>T | CA406039445 | ATP1A3 | c.2400C>A (p.Asn800Lys) c.2361C>A (p.Asn787Lys) c.2394C>A (p.Asn798Lys) c.2271C>A (p.Asn757Lys) | |
19 | g.41970446T>A | CA406039447 | ATP1A3 | c.2399A>T (p.Asn800Ile) c.2360A>T (p.Asn787Ile) c.2393A>T (p.Asn798Ile) c.2270A>T (p.Asn757Ile) | |
19 | g.41970446T>C | CA406039448 | ATP1A3 | c.2399A>G (p.Asn800Ser) c.2360A>G (p.Asn787Ser) c.2393A>G (p.Asn798Ser) c.2270A>G (p.Asn757Ser) | COSMIC |
19 | g.41970446T>G | CA406039450 | ATP1A3 | c.2399A>C (p.Asn800Thr) c.2360A>C (p.Asn787Thr) c.2393A>C (p.Asn798Thr) c.2270A>C (p.Asn757Thr) | |
19 | g.41970447T>A | CA406039456 | ATP1A3 | c.2398A>T (p.Asn800Tyr) c.2359A>T (p.Asn787Tyr) c.2392A>T (p.Asn798Tyr) c.2269A>T (p.Asn757Tyr) | |
19 | g.41970447T>C | CA406039454 | ATP1A3 | c.2398A>G (p.Asn800Asp) c.2359A>G (p.Asn787Asp) c.2392A>G (p.Asn798Asp) c.2269A>G (p.Asn757Asp) | |
19 | g.41970447T>G | CA406039452 | ATP1A3 | c.2398A>C (p.Asn800His) c.2359A>C (p.Asn787His) c.2392A>C (p.Asn798His) c.2269A>C (p.Asn757His) | |
19 | g.41970448G>A | CA507694824 | ATP1A3 | c.2397C>T (p.Ala799=) c.2358C>T (p.Ala786=) c.2391C>T (p.Ala797=) c.2268C>T (p.Ala756=) | gnomAD v4 |
19 | g.41970448G>C | CA507694825 | ATP1A3 | c.2397C>G (p.Ala799=) c.2358C>G (p.Ala786=) c.2391C>G (p.Ala797=) c.2268C>G (p.Ala756=) | |
19 | g.41970448G>T | CA507694826 | ATP1A3 | c.2397C>A (p.Ala799=) c.2358C>A (p.Ala786=) c.2391C>A (p.Ala797=) c.2268C>A (p.Ala756=) | |
19 | g.41970449G>A | CA406039458 | ATP1A3 | c.2396C>T (p.Ala799Val) c.2357C>T (p.Ala786Val) c.2390C>T (p.Ala797Val) c.2267C>T (p.Ala756Val) | |
19 | g.41970449G>C | CA406039459 | ATP1A3 | c.2396C>G (p.Ala799Gly) c.2357C>G (p.Ala786Gly) c.2390C>G (p.Ala797Gly) c.2267C>G (p.Ala756Gly) | |
19 | g.41970449G>T | CA406039461 | ATP1A3 | c.2396C>A (p.Ala799Asp) c.2357C>A (p.Ala786Asp) c.2390C>A (p.Ala797Asp) c.2267C>A (p.Ala756Asp) | |
19 | g.41970450C>A | CA406039463 | ATP1A3 | c.2395G>T (p.Ala799Ser) c.2356G>T (p.Ala786Ser) c.2389G>T (p.Ala797Ser) c.2266G>T (p.Ala756Ser) | gnomAD v4 |
19 | g.41970450C>G | CA406039465 | ATP1A3 | c.2395G>C (p.Ala799Pro) c.2356G>C (p.Ala786Pro) c.2389G>C (p.Ala797Pro) c.2266G>C (p.Ala756Pro) | |
19 | g.41970450C>T | CA406039466 | ATP1A3 | c.2395G>A (p.Ala799Thr) c.2356G>A (p.Ala786Thr) c.2389G>A (p.Ala797Thr) c.2266G>A (p.Ala756Thr) | |
19 | g.41970451C>A | CA406039467 | ATP1A3 | c.2394G>T (p.Met798Ile) c.2355G>T (p.Met785Ile) c.2388G>T (p.Met796Ile) c.2265G>T (p.Met755Ile) | |
19 | g.41970451C>G | CA406039469 | ATP1A3 | c.2394G>C (p.Met798Ile) c.2355G>C (p.Met785Ile) c.2388G>C (p.Met796Ile) c.2265G>C (p.Met755Ile) | |
19 | g.41970451C>T | CA406039468 | ATP1A3 | c.2394G>A (p.Met798Ile) c.2355G>A (p.Met785Ile) c.2388G>A (p.Met796Ile) c.2265G>A (p.Met755Ile) | |
19 | g.41970452A= | CA2336720962 | ATP1A3 | c.2393T= (p.Met798=) c.2354T= (p.Met785=) c.2387T= (p.Met796=) c.2264T= (p.Met755=) | |
19 | g.41970452A>C | CA406039470 | ATP1A3 | c.2393T>G (p.Met798Arg) c.2354T>G (p.Met785Arg) c.2387T>G (p.Met796Arg) c.2264T>G (p.Met755Arg) | |
19 | g.41970452A>G | CA406039471 | ATP1A3 | c.2393T>C (p.Met798Thr) c.2354T>C (p.Met785Thr) c.2387T>C (p.Met796Thr) c.2264T>C (p.Met755Thr) | |
19 | g.41970452A>T | CA406039472 | ATP1A3 | c.2393T>A (p.Met798Lys) c.2354T>A (p.Met785Lys) c.2387T>A (p.Met796Lys) c.2264T>A (p.Met755Lys) | ClinVar dbSNP |
19 | g.41970453T>A | CA406039474 | ATP1A3 | c.2392A>T (p.Met798Leu) c.2353A>T (p.Met785Leu) c.2386A>T (p.Met796Leu) c.2263A>T (p.Met755Leu) | |
19 | g.41970453T>C | CA406039475 | ATP1A3 | c.2392A>G (p.Met798Val) c.2353A>G (p.Met785Val) c.2386A>G (p.Met796Val) c.2263A>G (p.Met755Val) | ClinVar |
19 | g.41970453T>G | CA406039477 | ATP1A3 | c.2392A>C (p.Met798Leu) c.2353A>C (p.Met785Leu) c.2386A>C (p.Met796Leu) c.2263A>C (p.Met755Leu) | gnomAD v4 |
19 | g.41970454G>A | CA507694827 | ATP1A3 | c.2391C>T (p.Ile797=) c.2352C>T (p.Ile784=) c.2385C>T (p.Ile795=) c.2262C>T (p.Ile754=) | |
19 | g.41970454G>C | CA406039479 | ATP1A3 | c.2391C>G (p.Ile797Met) c.2352C>G (p.Ile784Met) c.2385C>G (p.Ile795Met) c.2262C>G (p.Ile754Met) | |
19 | g.41970454G>T | CA507694828 | ATP1A3 | c.2391C>A (p.Ile797=) c.2352C>A (p.Ile784=) c.2385C>A (p.Ile795=) c.2262C>A (p.Ile754=) | |
19 | g.41970455A>C | CA406039480 | ATP1A3 | c.2390T>G (p.Ile797Ser) c.2351T>G (p.Ile784Ser) c.2384T>G (p.Ile795Ser) c.2261T>G (p.Ile754Ser) | |
19 | g.41970455A>G | CA406039481 | ATP1A3 | c.2390T>C (p.Ile797Thr) c.2351T>C (p.Ile784Thr) c.2384T>C (p.Ile795Thr) c.2261T>C (p.Ile754Thr) | |
19 | g.41970455A>T | CA406039483 | ATP1A3 | c.2390T>A (p.Ile797Asn) c.2351T>A (p.Ile784Asn) c.2384T>A (p.Ile795Asn) c.2261T>A (p.Ile754Asn) | |
19 | g.41970456T>A | CA406039488 | ATP1A3 | c.2389A>T (p.Ile797Phe) c.2350A>T (p.Ile784Phe) c.2383A>T (p.Ile795Phe) c.2260A>T (p.Ile754Phe) | |
19 | g.41970456T>C | CA406039487 | ATP1A3 | c.2389A>G (p.Ile797Val) c.2350A>G (p.Ile784Val) c.2383A>G (p.Ile795Val) c.2260A>G (p.Ile754Val) | |
19 | g.41970456T>G | CA406039486 | ATP1A3 | c.2389A>C (p.Ile797Leu) c.2350A>C (p.Ile784Leu) c.2383A>C (p.Ile795Leu) c.2260A>C (p.Ile754Leu) | |
19 | g.41970457G>A | CA507694829 | ATP1A3 | c.2388C>T (p.Phe796=) c.2349C>T (p.Phe783=) c.2382C>T (p.Phe794=) c.2259C>T (p.Phe753=) | |
19 | g.41970457G>C | CA406039490 | ATP1A3 | c.2388C>G (p.Phe796Leu) c.2349C>G (p.Phe783Leu) c.2382C>G (p.Phe794Leu) c.2259C>G (p.Phe753Leu) | |
19 | g.41970457G>T | CA406039492 | ATP1A3 | c.2388C>A (p.Phe796Leu) c.2349C>A (p.Phe783Leu) c.2382C>A (p.Phe794Leu) c.2259C>A (p.Phe753Leu) | COSMIC |
19 | g.41970458A>C | CA406039494 | ATP1A3 | c.2387T>G (p.Phe796Cys) c.2348T>G (p.Phe783Cys) c.2381T>G (p.Phe794Cys) c.2258T>G (p.Phe753Cys) | |
19 | g.41970458A>G | CA406039496 | ATP1A3 | c.2387T>C (p.Phe796Ser) c.2348T>C (p.Phe783Ser) c.2381T>C (p.Phe794Ser) c.2258T>C (p.Phe753Ser) | |
19 | g.41970458A>T | CA406039495 | ATP1A3 | c.2387T>A (p.Phe796Tyr) c.2348T>A (p.Phe783Tyr) c.2381T>A (p.Phe794Tyr) c.2258T>A (p.Phe753Tyr) | |
19 | g.41970459A>C | CA406039498 | ATP1A3 | c.2386T>G (p.Phe796Val) c.2347T>G (p.Phe783Val) c.2380T>G (p.Phe794Val) c.2257T>G (p.Phe753Val) | |
19 | g.41970459A>G | CA406039500 | ATP1A3 | c.2386T>C (p.Phe796Leu) c.2347T>C (p.Phe783Leu) c.2380T>C (p.Phe794Leu) c.2257T>C (p.Phe753Leu) | |
19 | g.41970459A>T | CA406039502 | ATP1A3 | c.2386T>A (p.Phe796Ile) c.2347T>A (p.Phe783Ile) c.2380T>A (p.Phe794Ile) c.2257T>A (p.Phe753Ile) | |
19 | g.41970460C>A | CA507694830 | ATP1A3 | c.2385G>T (p.Leu795=) c.2346G>T (p.Leu782=) c.2379G>T (p.Leu793=) c.2256G>T (p.Leu752=) | |
19 | g.41970460C= | CA2336720964 | ATP1A3 | c.2385G= (p.Leu795=) c.2346G= (p.Leu782=) c.2379G= (p.Leu793=) c.2256G= (p.Leu752=) | |
19 | g.41970460C>G | CA507694831 | ATP1A3 | c.2385G>C (p.Leu795=) c.2346G>C (p.Leu782=) c.2379G>C (p.Leu793=) c.2256G>C (p.Leu752=) | gnomAD v4 |
19 | g.41970460C>T | CA507694832 | ATP1A3 | c.2385G>A (p.Leu795=) c.2346G>A (p.Leu782=) c.2379G>A (p.Leu793=) c.2256G>A (p.Leu752=) | dbSNP |
19 | g.41970461A>C | CA406039503 | ATP1A3 | c.2384T>G (p.Leu795Arg) c.2345T>G (p.Leu782Arg) c.2378T>G (p.Leu793Arg) c.2255T>G (p.Leu752Arg) | |
19 | g.41970461A>G | CA406039504 | ATP1A3 | c.2384T>C (p.Leu795Pro) c.2345T>C (p.Leu782Pro) c.2378T>C (p.Leu793Pro) c.2255T>C (p.Leu752Pro) | |
19 | g.41970461A>T | CA406039506 | ATP1A3 | c.2384T>A (p.Leu795Gln) c.2345T>A (p.Leu782Gln) c.2378T>A (p.Leu793Gln) c.2255T>A (p.Leu752Gln) | |
19 | g.41970462G>A | CA507694833 | ATP1A3 | c.2383C>T (p.Leu795=) c.2344C>T (p.Leu782=) c.2377C>T (p.Leu793=) c.2254C>T (p.Leu752=) | |
19 | g.41970462G>C | CA406039508 | ATP1A3 | c.2383C>G (p.Leu795Val) c.2344C>G (p.Leu782Val) c.2377C>G (p.Leu793Val) c.2254C>G (p.Leu752Val) | |
19 | g.41970462G>T | CA406039510 | ATP1A3 | c.2383C>A (p.Leu795Met) c.2344C>A (p.Leu782Met) c.2377C>A (p.Leu793Met) c.2254C>A (p.Leu752Met) | |
19 | g.41970463C>A | CA507694835 | ATP1A3 | c.2382G>T (p.Leu794=) c.2343G>T (p.Leu781=) c.2376G>T (p.Leu792=) c.2253G>T (p.Leu751=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970463C= | CA2336720966 | ATP1A3 | c.2382G= (p.Leu794=) c.2343G= (p.Leu781=) c.2376G= (p.Leu792=) c.2253G= (p.Leu751=) | |
19 | g.41970463C>G | CA507694836 | ATP1A3 | c.2382G>C (p.Leu794=) c.2343G>C (p.Leu781=) c.2376G>C (p.Leu792=) c.2253G>C (p.Leu751=) | |
19 | g.41970463C>T | CA507694834 | ATP1A3 | c.2382G>A (p.Leu794=) c.2343G>A (p.Leu781=) c.2376G>A (p.Leu792=) c.2253G>A (p.Leu751=) | gnomAD v4 |
19 | g.41970464A>C | CA406039512 | ATP1A3 | c.2381T>G (p.Leu794Arg) c.2342T>G (p.Leu781Arg) c.2375T>G (p.Leu792Arg) c.2252T>G (p.Leu751Arg) | |
19 | g.41970464A>G | CA406039515 | ATP1A3 | c.2381T>C (p.Leu794Pro) c.2342T>C (p.Leu781Pro) c.2375T>C (p.Leu792Pro) c.2252T>C (p.Leu751Pro) | |
19 | g.41970464A>T | CA406039513 | ATP1A3 | c.2381T>A (p.Leu794Gln) c.2342T>A (p.Leu781Gln) c.2375T>A (p.Leu792Gln) c.2252T>A (p.Leu751Gln) | |
19 | g.41970465G>A | CA507694837 | ATP1A3 | c.2380C>T (p.Leu794=) c.2341C>T (p.Leu781=) c.2374C>T (p.Leu792=) c.2251C>T (p.Leu751=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970465G>C | CA406039517 | ATP1A3 | c.2380C>G (p.Leu794Val) c.2341C>G (p.Leu781Val) c.2374C>G (p.Leu792Val) c.2251C>G (p.Leu751Val) | |
19 | g.41970465G= | CA2336720968 | ATP1A3 | c.2380C= (p.Leu794=) c.2341C= (p.Leu781=) c.2374C= (p.Leu792=) c.2251C= (p.Leu751=) | |
19 | g.41970465G>T | CA406039518 | ATP1A3 | c.2380C>A (p.Leu794Met) c.2341C>A (p.Leu781Met) c.2374C>A (p.Leu792Met) c.2251C>A (p.Leu751Met) | |
19 | g.41970466G>A | CA507694838 | ATP1A3 | c.2379C>T (p.Phe793=) c.2340C>T (p.Phe780=) c.2373C>T (p.Phe791=) c.2250C>T (p.Phe750=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41970466G>C | CA406039520 | ATP1A3 | c.2379C>G (p.Phe793Leu) c.2340C>G (p.Phe780Leu) c.2373C>G (p.Phe791Leu) c.2250C>G (p.Phe750Leu) | |
19 | g.41970466G= | CA2336720969 | ATP1A3 | c.2379C= (p.Phe793=) c.2340C= (p.Phe780=) c.2373C= (p.Phe791=) c.2250C= (p.Phe750=) | |
19 | g.41970466G>T | CA406039522 | ATP1A3 | c.2379C>A (p.Phe793Leu) c.2340C>A (p.Phe780Leu) c.2373C>A (p.Phe791Leu) c.2250C>A (p.Phe750Leu) | |
19 | g.41970467A>C | CA406039527 | ATP1A3 | c.2378T>G (p.Phe793Cys) c.2339T>G (p.Phe780Cys) c.2372T>G (p.Phe791Cys) c.2249T>G (p.Phe750Cys) | |
19 | g.41970467A>G | CA406039524 | ATP1A3 | c.2378T>C (p.Phe793Ser) c.2339T>C (p.Phe780Ser) c.2372T>C (p.Phe791Ser) c.2249T>C (p.Phe750Ser) | |
19 | g.41970467A>T | CA406039525 | ATP1A3 | c.2378T>A (p.Phe793Tyr) c.2339T>A (p.Phe780Tyr) c.2372T>A (p.Phe791Tyr) c.2249T>A (p.Phe750Tyr) | |
19 | g.41970468A= | CA2336720971 | ATP1A3 | c.2377T= (p.Phe793=) c.2338T= (p.Phe780=) c.2371T= (p.Phe791=) c.2248T= (p.Phe750=) | |
19 | g.41970468A>C | CA406039529 | ATP1A3 | c.2377T>G (p.Phe793Val) c.2338T>G (p.Phe780Val) c.2371T>G (p.Phe791Val) c.2248T>G (p.Phe750Val) | |
19 | g.41970468A>G | CA341237 | ATP1A3 | c.2377T>C (p.Phe793Leu) c.2338T>C (p.Phe780Leu) c.2371T>C (p.Phe791Leu) c.2248T>C (p.Phe750Leu) | ClinVar dbSNP |
19 | g.41970468A>T | CA406039531 | ATP1A3 | c.2377T>A (p.Phe793Ile) c.2338T>A (p.Phe780Ile) c.2371T>A (p.Phe791Ile) c.2248T>A (p.Phe750Ile) | |
19 | g.41970469G>A | CA507694839 | ATP1A3 | c.2376C>T (p.Pro792=) c.2337C>T (p.Pro779=) c.2370C>T (p.Pro790=) c.2247C>T (p.Pro749=) | dbSNP |
19 | g.41970469G>C | CA507694840 | ATP1A3 | c.2376C>G (p.Pro792=) c.2337C>G (p.Pro779=) c.2370C>G (p.Pro790=) c.2247C>G (p.Pro749=) | |
19 | g.41970469G= | CA2336720976 | ATP1A3 | c.2376C= (p.Pro792=) c.2337C= (p.Pro779=) c.2370C= (p.Pro790=) c.2247C= (p.Pro749=) | |
19 | g.41970469G>T | CA507694841 | ATP1A3 | c.2376C>A (p.Pro792=) c.2337C>A (p.Pro779=) c.2370C>A (p.Pro790=) c.2247C>A (p.Pro749=) | |
19 | g.41970470G>A | CA406039533 | ATP1A3 | c.2375C>T (p.Pro792Leu) c.2336C>T (p.Pro779Leu) c.2369C>T (p.Pro790Leu) c.2246C>T (p.Pro749Leu) | |
19 | g.41970470G>C | CA406039535 | ATP1A3 | c.2375C>G (p.Pro792Arg) c.2336C>G (p.Pro779Arg) c.2369C>G (p.Pro790Arg) c.2246C>G (p.Pro749Arg) | |
19 | g.41970470G>T | CA406039536 | ATP1A3 | c.2375C>A (p.Pro792His) c.2336C>A (p.Pro779His) c.2369C>A (p.Pro790His) c.2246C>A (p.Pro749His) | |
19 | g.41970471G>A | CA406039538 | ATP1A3 | c.2374C>T (p.Pro792Ser) c.2335C>T (p.Pro779Ser) c.2368C>T (p.Pro790Ser) c.2245C>T (p.Pro749Ser) | |
19 | g.41970471G>C | CA406039540 | ATP1A3 | c.2374C>G (p.Pro792Ala) c.2335C>G (p.Pro779Ala) c.2368C>G (p.Pro790Ala) c.2245C>G (p.Pro749Ala) | |
19 | g.41970471G>T | CA406039542 | ATP1A3 | c.2374C>A (p.Pro792Thr) c.2335C>A (p.Pro779Thr) c.2368C>A (p.Pro790Thr) c.2245C>A (p.Pro749Thr) | |
19 | g.41970472C>A | CA507694842 | ATP1A3 | c.2373G>T (p.Thr791=) c.2334G>T (p.Thr778=) c.2367G>T (p.Thr789=) c.2244G>T (p.Thr748=) | dbSNP |
19 | g.41970472C= | CA2336720980 | ATP1A3 | c.2373G= (p.Thr791=) c.2334G= (p.Thr778=) c.2367G= (p.Thr789=) c.2244G= (p.Thr748=) | |
19 | g.41970472C>G | CA507694843 | ATP1A3 | c.2373G>C (p.Thr791=) c.2334G>C (p.Thr778=) c.2367G>C (p.Thr789=) c.2244G>C (p.Thr748=) | |
19 | g.41970472C>T | CA9467412 | ATP1A3 | c.2373G>A (p.Thr791=) c.2334G>A (p.Thr778=) c.2367G>A (p.Thr789=) c.2244G>A (p.Thr748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41970473G>A | CA406039545 | ATP1A3 | c.2372C>T (p.Thr791Met) c.2333C>T (p.Thr778Met) c.2366C>T (p.Thr789Met) c.2243C>T (p.Thr748Met) | gnomAD v4 |
19 | g.41970473G>C | CA406039546 | ATP1A3 | c.2372C>G (p.Thr791Arg) c.2333C>G (p.Thr778Arg) c.2366C>G (p.Thr789Arg) c.2243C>G (p.Thr748Arg) | |
19 | g.41970473G>T | CA406039548 | ATP1A3 | c.2372C>A (p.Thr791Lys) c.2333C>A (p.Thr778Lys) c.2366C>A (p.Thr789Lys) c.2243C>A (p.Thr748Lys) | |
19 | g.41970474T>A | CA406039549 | ATP1A3 | c.2371A>T (p.Thr791Ser) c.2332A>T (p.Thr778Ser) c.2365A>T (p.Thr789Ser) c.2242A>T (p.Thr748Ser) | |
19 | g.41970474T>C | CA406039553 | ATP1A3 | c.2371A>G (p.Thr791Ala) c.2332A>G (p.Thr778Ala) c.2365A>G (p.Thr789Ala) c.2242A>G (p.Thr748Ala) | |
19 | g.41970474T>G | CA406039551 | ATP1A3 | c.2371A>C (p.Thr791Pro) c.2332A>C (p.Thr778Pro) c.2365A>C (p.Thr789Pro) c.2242A>C (p.Thr748Pro) | ClinVar dbSNP |
19 | g.41970474T= | CA2336720987 | ATP1A3 | c.2371A= (p.Thr791=) c.2332A= (p.Thr778=) c.2365A= (p.Thr789=) c.2242A= (p.Thr748=) | |
19 | g.41970475G>A | CA9467413 | ATP1A3 | c.2370C>T (p.Ile790=) c.2331C>T (p.Ile777=) c.2364C>T (p.Ile788=) c.2241C>T (p.Ile747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41970475G>C | CA406039555 | ATP1A3 | c.2370C>G (p.Ile790Met) c.2331C>G (p.Ile777Met) c.2364C>G (p.Ile788Met) c.2241C>G (p.Ile747Met) | |
19 | g.41970475G= | CA2336720990 | ATP1A3 | c.2370C= (p.Ile790=) c.2331C= (p.Ile777=) c.2364C= (p.Ile788=) c.2241C= (p.Ile747=) | |
19 | g.41970475G>T | CA507694844 | ATP1A3 | c.2370C>A (p.Ile790=) c.2331C>A (p.Ile777=) c.2364C>A (p.Ile788=) c.2241C>A (p.Ile747=) | |
19 | g.41970476A= | CA2336720992 | ATP1A3 | c.2369T= (p.Ile790=) c.2330T= (p.Ile777=) c.2363T= (p.Ile788=) c.2240T= (p.Ile747=) | |
19 | g.41970476A>C | CA406039556 | ATP1A3 | c.2369T>G (p.Ile790Ser) c.2330T>G (p.Ile777Ser) c.2363T>G (p.Ile788Ser) c.2240T>G (p.Ile747Ser) | |
19 | g.41970476A>G | CA406039558 | ATP1A3 | c.2369T>C (p.Ile790Thr) c.2330T>C (p.Ile777Thr) c.2363T>C (p.Ile788Thr) c.2240T>C (p.Ile747Thr) | |
19 | g.41970476A>T | CA406039560 | ATP1A3 | c.2369T>A (p.Ile790Asn) c.2330T>A (p.Ile777Asn) c.2363T>A (p.Ile788Asn) c.2240T>A (p.Ile747Asn) | ClinVar dbSNP |
19 | g.41970477T>A | CA406039562 | ATP1A3 | c.2368A>T (p.Ile790Phe) c.2329A>T (p.Ile777Phe) c.2362A>T (p.Ile788Phe) c.2239A>T (p.Ile747Phe) | |
19 | g.41970477T>C | CA406039563 | ATP1A3 | c.2368A>G (p.Ile790Val) c.2329A>G (p.Ile777Val) c.2362A>G (p.Ile788Val) c.2239A>G (p.Ile747Val) | |
19 | g.41970477T>G | CA406039565 | ATP1A3 | c.2368A>C (p.Ile790Leu) c.2329A>C (p.Ile777Leu) c.2362A>C (p.Ile788Leu) c.2239A>C (p.Ile747Leu) | |
19 | g.41970478C>A | CA406039567 | ATP1A3 | c.2367G>T (p.Glu789Asp) c.2328G>T (p.Glu776Asp) c.2361G>T (p.Glu787Asp) c.2238G>T (p.Glu746Asp) | |
19 | g.41970478C= | CA2336720999 | ATP1A3 | c.2367G= (p.Glu789=) c.2328G= (p.Glu776=) c.2361G= (p.Glu787=) c.2238G= (p.Glu746=) | |
19 | g.41970478C>G | CA406039568 | ATP1A3 | c.2367G>C (p.Glu789Asp) c.2328G>C (p.Glu776Asp) c.2361G>C (p.Glu787Asp) c.2238G>C (p.Glu746Asp) | ClinVar dbSNP |
19 | g.41970478C>T | CA507694845 | ATP1A3 | c.2367G>A (p.Glu789=) c.2328G>A (p.Glu776=) c.2361G>A (p.Glu787=) c.2238G>A (p.Glu746=) |