Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17004996G>A | CA637677 | ATP13A2 | c.347+18C>T (n.347+18C>T) c.81+18C>T c.324+18C>T c.273+18C>T c.59+18C>T (n.59+18C>T) c.-500+18C>T (n.-500+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004996G>C | CA416073380 | ATP13A2 | c.347+18C>G (n.347+18C>G) c.81+18C>G c.324+18C>G c.273+18C>G c.59+18C>G (n.59+18C>G) c.-500+18C>G (n.-500+18C>G) | gnomAD v4 |
1 | g.17004996G= | CA1156072813 | ATP13A2 | c.347+18C= (n.347+18C=) c.81+18C= c.324+18C= c.273+18C= c.59+18C= (n.59+18C=) c.-500+18C= (n.-500+18C=) | |
1 | g.17004996G>T | CA416073377 | ATP13A2 | c.347+18C>A (n.347+18C>A) c.81+18C>A c.324+18C>A c.273+18C>A c.59+18C>A (n.59+18C>A) c.-500+18C>A (n.-500+18C>A) | gnomAD v4 |
1 | g.17004996_17004997delinsAT | CA2580060614 | ATP13A2 | c.347+17_347+18delinsAT (n.347+17_347+18delinsAT) c.81+17_81+18delinsAT c.324+17_324+18delinsAT c.273+17_273+18delinsAT c.59+17_59+18delinsAT (n.59+17_59+18delinsAT) c.-500+17_-500+18delinsAT (n.-500+17_-500+18delinsAT) | ClinVar |
1 | g.17004997C>A | CA416073384 | ATP13A2 | c.347+17G>T (n.347+17G>T) c.81+17G>T c.324+17G>T c.273+17G>T c.59+17G>T (n.59+17G>T) c.-500+17G>T (n.-500+17G>T) | |
1 | g.17004997C= | CA1156072817 | ATP13A2 | c.347+17G= (n.347+17G=) c.81+17G= c.324+17G= c.273+17G= c.59+17G= (n.59+17G=) c.-500+17G= (n.-500+17G=) | |
1 | g.17004997C>G | CA416073388 | ATP13A2 | c.347+17G>C (n.347+17G>C) c.81+17G>C c.324+17G>C c.273+17G>C c.59+17G>C (n.59+17G>C) c.-500+17G>C (n.-500+17G>C) | |
1 | g.17004997C>T | CA637678 | ATP13A2 | c.347+17G>A (n.347+17G>A) c.81+17G>A c.324+17G>A c.273+17G>A c.59+17G>A (n.59+17G>A) c.-500+17G>A (n.-500+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17004998A>C | CA416073389 | ATP13A2 | c.347+16T>G (n.347+16T>G) c.81+16T>G c.324+16T>G c.273+16T>G c.59+16T>G (n.59+16T>G) c.-500+16T>G (n.-500+16T>G) | |
1 | g.17004998A>G | CA416073390 | ATP13A2 | c.347+16T>C (n.347+16T>C) c.81+16T>C c.324+16T>C c.273+16T>C c.59+16T>C (n.59+16T>C) c.-500+16T>C (n.-500+16T>C) | |
1 | g.17004998A>T | CA416073391 | ATP13A2 | c.347+16T>A (n.347+16T>A) c.81+16T>A c.324+16T>A c.273+16T>A c.59+16T>A (n.59+16T>A) c.-500+16T>A (n.-500+16T>A) | |
1 | g.17004999A= | CA1156072820 | ATP13A2 | c.347+15T= (n.347+15T=) c.81+15T= c.324+15T= c.273+15T= c.59+15T= (n.59+15T=) c.-500+15T= (n.-500+15T=) | |
1 | g.17004999A>C | CA416073392 | ATP13A2 | c.347+15T>G (n.347+15T>G) c.81+15T>G c.324+15T>G c.273+15T>G c.59+15T>G (n.59+15T>G) c.-500+15T>G (n.-500+15T>G) | |
1 | g.17004999A>G | CA637679 | ATP13A2 | c.347+15T>C (n.347+15T>C) c.81+15T>C c.324+15T>C c.273+15T>C c.59+15T>C (n.59+15T>C) c.-500+15T>C (n.-500+15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17004999A>T | CA416073395 | ATP13A2 | c.347+15T>A (n.347+15T>A) c.81+15T>A c.324+15T>A c.273+15T>A c.59+15T>A (n.59+15T>A) c.-500+15T>A (n.-500+15T>A) | |
1 | g.17005000T>A | CA416073405 | ATP13A2 | c.347+14A>T (n.347+14A>T) c.81+14A>T c.324+14A>T c.273+14A>T c.59+14A>T (n.59+14A>T) c.-500+14A>T (n.-500+14A>T) | gnomAD v4 |
1 | g.17005000T>C | CA416073409 | ATP13A2 | c.347+14A>G (n.347+14A>G) c.81+14A>G c.324+14A>G c.273+14A>G c.59+14A>G (n.59+14A>G) c.-500+14A>G (n.-500+14A>G) | |
1 | g.17005000T>G | CA416073408 | ATP13A2 | c.347+14A>C (n.347+14A>C) c.81+14A>C c.324+14A>C c.273+14A>C c.59+14A>C (n.59+14A>C) c.-500+14A>C (n.-500+14A>C) | dbSNP |
1 | g.17005000T= | CA1156072826 | ATP13A2 | c.347+14A= (n.347+14A=) c.81+14A= c.324+14A= c.273+14A= c.59+14A= (n.59+14A=) c.-500+14A= (n.-500+14A=) | |
1 | g.17005000_17005002delinsTGG | CA1156072825 | ATP13A2 | c.347+12_347+14delinsCCA (n.347+12_347+14delinsCCA) c.81+12_81+14delinsCCA c.324+12_324+14delinsCCA c.273+12_273+14delinsCCA c.59+12_59+14delinsCCA (n.59+12_59+14delinsCCA) c.-500+12_-500+14delinsCCA (n.-500+12_-500+14delinsCCA) | |
1 | g.17005001G>A | CA416073412 | ATP13A2 | c.347+13C>T (n.347+13C>T) c.81+13C>T c.324+13C>T c.273+13C>T c.59+13C>T (n.59+13C>T) c.-500+13C>T (n.-500+13C>T) | |
1 | g.17005001G>C | CA416073413 | ATP13A2 | c.347+13C>G (n.347+13C>G) c.81+13C>G c.324+13C>G c.273+13C>G c.59+13C>G (n.59+13C>G) c.-500+13C>G (n.-500+13C>G) | |
1 | g.17005001G>T | CA416073416 | ATP13A2 | c.347+13C>A (n.347+13C>A) c.81+13C>A c.324+13C>A c.273+13C>A c.59+13C>A (n.59+13C>A) c.-500+13C>A (n.-500+13C>A) | |
1 | g.17005003_17005004del | CA637680 | ATP13A2 | c.347+12_347+13del (n.347+12_347+13del) c.81+12_81+13del c.324+12_324+13del c.273+12_273+13del c.59+12_59+13del (n.59+12_59+13del) c.-500+12_-500+13del (n.-500+12_-500+13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005002G>A | CA416073417 | ATP13A2 | c.347+12C>T (n.347+12C>T) c.81+12C>T c.324+12C>T c.273+12C>T c.59+12C>T (n.59+12C>T) c.-500+12C>T (n.-500+12C>T) | |
1 | g.17005002G>C | CA416073418 | ATP13A2 | c.347+12C>G (n.347+12C>G) c.81+12C>G c.324+12C>G c.273+12C>G c.59+12C>G (n.59+12C>G) c.-500+12C>G (n.-500+12C>G) | |
1 | g.17005002G>T | CA416073420 | ATP13A2 | c.347+12C>A (n.347+12C>A) c.81+12C>A c.324+12C>A c.273+12C>A c.59+12C>A (n.59+12C>A) c.-500+12C>A (n.-500+12C>A) | |
1 | g.17005003G>A | CA416073429 | ATP13A2 | c.347+11C>T (n.347+11C>T) c.81+11C>T c.324+11C>T c.273+11C>T c.59+11C>T (n.59+11C>T) c.-500+11C>T (n.-500+11C>T) | gnomAD v4 |
1 | g.17005003G>C | CA416073422 | ATP13A2 | c.347+11C>G (n.347+11C>G) c.81+11C>G c.324+11C>G c.273+11C>G c.59+11C>G (n.59+11C>G) c.-500+11C>G (n.-500+11C>G) | |
1 | g.17005003G>T | CA416073425 | ATP13A2 | c.347+11C>A (n.347+11C>A) c.81+11C>A c.324+11C>A c.273+11C>A c.59+11C>A (n.59+11C>A) c.-500+11C>A (n.-500+11C>A) | |
1 | g.17005004G>A | CA416073431 | ATP13A2 | c.347+10C>T (n.347+10C>T) c.81+10C>T c.324+10C>T c.273+10C>T c.59+10C>T (n.59+10C>T) c.-500+10C>T (n.-500+10C>T) | |
1 | g.17005004G>C | CA416073434 | ATP13A2 | c.347+10C>G (n.347+10C>G) c.81+10C>G c.324+10C>G c.273+10C>G c.59+10C>G (n.59+10C>G) c.-500+10C>G (n.-500+10C>G) | |
1 | g.17005004G>T | CA416073436 | ATP13A2 | c.347+10C>A (n.347+10C>A) c.81+10C>A c.324+10C>A c.273+10C>A c.59+10C>A (n.59+10C>A) c.-500+10C>A (n.-500+10C>A) | |
1 | g.17005005C>A | CA416073438 | ATP13A2 | c.347+9G>T (n.347+9G>T) c.81+9G>T c.324+9G>T c.273+9G>T c.59+9G>T (n.59+9G>T) c.-500+9G>T (n.-500+9G>T) | |
1 | g.17005005C>G | CA416073443 | ATP13A2 | c.347+9G>C (n.347+9G>C) c.81+9G>C c.324+9G>C c.273+9G>C c.59+9G>C (n.59+9G>C) c.-500+9G>C (n.-500+9G>C) | |
1 | g.17005005C>T | CA416073444 | ATP13A2 | c.347+9G>A (n.347+9G>A) c.81+9G>A c.324+9G>A c.273+9G>A c.59+9G>A (n.59+9G>A) c.-500+9G>A (n.-500+9G>A) | |
1 | g.17005006T>A | CA416073453 | ATP13A2 | c.347+8A>T (n.347+8A>T) c.81+8A>T c.324+8A>T c.273+8A>T c.59+8A>T (n.59+8A>T) c.-500+8A>T (n.-500+8A>T) | |
1 | g.17005006T>C | CA416073452 | ATP13A2 | c.347+8A>G (n.347+8A>G) c.81+8A>G c.324+8A>G c.273+8A>G c.59+8A>G (n.59+8A>G) c.-500+8A>G (n.-500+8A>G) | |
1 | g.17005006T>G | CA416073449 | ATP13A2 | c.347+8A>C (n.347+8A>C) c.81+8A>C c.324+8A>C c.273+8A>C c.59+8A>C (n.59+8A>C) c.-500+8A>C (n.-500+8A>C) | |
1 | g.17005007G>A | CA416073456 | ATP13A2 | c.347+7C>T (n.347+7C>T) c.81+7C>T c.324+7C>T c.273+7C>T c.59+7C>T (n.59+7C>T) c.-500+7C>T (n.-500+7C>T) | |
1 | g.17005007G>C | CA416073459 | ATP13A2 | c.347+7C>G (n.347+7C>G) c.81+7C>G c.324+7C>G c.273+7C>G c.59+7C>G (n.59+7C>G) c.-500+7C>G (n.-500+7C>G) | |
1 | g.17005007G>T | CA416073462 | ATP13A2 | c.347+7C>A (n.347+7C>A) c.81+7C>A c.324+7C>A c.273+7C>A c.59+7C>A (n.59+7C>A) c.-500+7C>A (n.-500+7C>A) | |
1 | g.17005008C>A | CA416073464 | ATP13A2 | c.347+6G>T (n.347+6G>T) c.81+6G>T c.324+6G>T c.273+6G>T c.59+6G>T (n.59+6G>T) c.-500+6G>T (n.-500+6G>T) | |
1 | g.17005008C>G | CA416073467 | ATP13A2 | c.347+6G>C (n.347+6G>C) c.81+6G>C c.324+6G>C c.273+6G>C c.59+6G>C (n.59+6G>C) c.-500+6G>C (n.-500+6G>C) | |
1 | g.17005008C>T | CA416073469 | ATP13A2 | c.347+6G>A (n.347+6G>A) c.81+6G>A c.324+6G>A c.273+6G>A c.59+6G>A (n.59+6G>A) c.-500+6G>A (n.-500+6G>A) | dbSNP |
1 | g.17005009C>A | CA416073471 | ATP13A2 | c.347+5G>T (n.347+5G>T) c.81+5G>T c.324+5G>T c.273+5G>T c.59+5G>T (n.59+5G>T) c.-500+5G>T (n.-500+5G>T) | |
1 | g.17005009C= | CA1156072828 | ATP13A2 | c.347+5G= (n.347+5G=) c.81+5G= c.324+5G= c.273+5G= c.59+5G= (n.59+5G=) c.-500+5G= (n.-500+5G=) | |
1 | g.17005009C>G | CA416073473 | ATP13A2 | c.347+5G>C (n.347+5G>C) c.81+5G>C c.324+5G>C c.273+5G>C c.59+5G>C (n.59+5G>C) c.-500+5G>C (n.-500+5G>C) | |
1 | g.17005009C>T | CA637681 | ATP13A2 | c.347+5G>A (n.347+5G>A) c.81+5G>A c.324+5G>A c.273+5G>A c.59+5G>A (n.59+5G>A) c.-500+5G>A (n.-500+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005010T>A | CA416073478 | ATP13A2 | c.347+4A>T (n.347+4A>T) c.81+4A>T c.324+4A>T c.273+4A>T c.59+4A>T (n.59+4A>T) c.-500+4A>T (n.-500+4A>T) | |
1 | g.17005010T>C | CA416073485 | ATP13A2 | c.347+4A>G (n.347+4A>G) c.81+4A>G c.324+4A>G c.273+4A>G c.59+4A>G (n.59+4A>G) c.-500+4A>G (n.-500+4A>G) | gnomAD v4 |
1 | g.17005010T>G | CA416073480 | ATP13A2 | c.347+4A>C (n.347+4A>C) c.81+4A>C c.324+4A>C c.273+4A>C c.59+4A>C (n.59+4A>C) c.-500+4A>C (n.-500+4A>C) | |
1 | g.17005011C>A | CA416073487 | ATP13A2 | c.347+3G>T (n.347+3G>T) c.81+3G>T c.324+3G>T c.273+3G>T c.59+3G>T (n.59+3G>T) c.-500+3G>T (n.-500+3G>T) | |
1 | g.17005011C= | CA1156072832 | ATP13A2 | c.347+3G= (n.347+3G=) c.81+3G= c.324+3G= c.273+3G= c.59+3G= (n.59+3G=) c.-500+3G= (n.-500+3G=) | |
1 | g.17005011C>G | CA416073489 | ATP13A2 | c.347+3G>C (n.347+3G>C) c.81+3G>C c.324+3G>C c.273+3G>C c.59+3G>C (n.59+3G>C) c.-500+3G>C (n.-500+3G>C) | |
1 | g.17005011C>T | CA637682 | ATP13A2 | c.347+3G>A (n.347+3G>A) c.81+3G>A c.324+3G>A c.273+3G>A c.59+3G>A (n.59+3G>A) c.-500+3G>A (n.-500+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005012A>C | CA338263668 | ATP13A2 | c.347+2T>G (n.347+2T>G) c.81+2T>G c.324+2T>G c.273+2T>G c.59+2T>G (n.59+2T>G) c.-500+2T>G (n.-500+2T>G) | |
1 | g.17005012A>G | CA338263670 | ATP13A2 | c.347+2T>C (n.347+2T>C) c.81+2T>C c.324+2T>C c.273+2T>C c.59+2T>C (n.59+2T>C) c.-500+2T>C (n.-500+2T>C) | |
1 | g.17005012A>T | CA338263673 | ATP13A2 | c.347+2T>A (n.347+2T>A) c.81+2T>A c.324+2T>A c.273+2T>A c.59+2T>A (n.59+2T>A) c.-500+2T>A (n.-500+2T>A) | |
1 | g.17005013C>A | CA338263680 | ATP13A2 | c.347+1G>T (n.347+1G>T) c.81+1G>T c.324+1G>T c.273+1G>T c.59+1G>T (n.59+1G>T) c.-500+1G>T (n.-500+1G>T) | |
1 | g.17005013C= | CA1156072834 | ATP13A2 | c.347+1G= (n.347+1G=) c.81+1G= c.324+1G= c.273+1G= c.59+1G= (n.59+1G=) c.-500+1G= (n.-500+1G=) | |
1 | g.17005013C>G | CA338263677 | ATP13A2 | c.347+1G>C (n.347+1G>C) c.81+1G>C c.324+1G>C c.273+1G>C c.59+1G>C (n.59+1G>C) c.-500+1G>C (n.-500+1G>C) | |
1 | g.17005013C>T | CA338263675 | ATP13A2 | c.347+1G>A (n.347+1G>A) c.81+1G>A c.324+1G>A c.273+1G>A c.59+1G>A (n.59+1G>A) c.-500+1G>A (n.-500+1G>A) | dbSNP |
1 | g.17005014C>A | CA338263682 | ATP13A2 | c.347G>T (p.Ser116Ile) c.81G>T c.324G>T c.273G>T c.59G>T (p.Ser20Ile) c.-500G>T (n.-500G>T) | |
1 | g.17005014C>G | CA338263684 | ATP13A2 | c.347G>C (p.Ser116Thr) c.81G>C c.324G>C c.273G>C c.59G>C (p.Ser20Thr) c.-500G>C (n.-500G>C) | |
1 | g.17005014C>T | CA338263685 | ATP13A2 | c.347G>A (p.Ser116Asn) c.81G>A c.324G>A c.273G>A c.59G>A (p.Ser20Asn) c.-500G>A (n.-500G>A) | gnomAD v4 |
1 | g.17005015T>A | CA338263687 | ATP13A2 | c.346A>T (p.Ser116Cys) c.80A>T c.323A>T c.272A>T c.58A>T (p.Ser20Cys) c.-501A>T (n.-501A>T) | |
1 | g.17005015T>C | CA338263689 | ATP13A2 | c.346A>G (p.Ser116Gly) c.80A>G c.323A>G c.272A>G c.58A>G (p.Ser20Gly) c.-501A>G (n.-501A>G) | gnomAD v4 |
1 | g.17005015T>G | CA338263691 | ATP13A2 | c.346A>C (p.Ser116Arg) c.80A>C c.323A>C c.272A>C c.58A>C (p.Ser20Arg) c.-501A>C (n.-501A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17005015T= | CA1156072837 | ATP13A2 | c.346A= (p.Ser116=) c.80A= c.323A= c.272A= c.58A= (p.Ser20=) c.-501A= (n.-501A=) | |
1 | g.17005016G>A | CA416073534 | ATP13A2 | c.345C>T (p.Gly115=) c.79C>T c.322C>T c.271C>T c.57C>T (p.Gly19=) c.-502C>T (n.-502C>T) | dbSNP |
1 | g.17005016G>C | CA416073537 | ATP13A2 | c.345C>G (p.Gly115=) c.79C>G c.322C>G c.271C>G c.57C>G (p.Gly19=) c.-502C>G (n.-502C>G) | |
1 | g.17005016G= | CA1156072839 | ATP13A2 | c.345C= (p.Gly115=) c.79C= c.322C= c.271C= c.57C= (p.Gly19=) c.-502C= (n.-502C=) | |
1 | g.17005016G>T | CA416073539 | ATP13A2 | c.345C>A (p.Gly115=) c.79C>A c.322C>A c.271C>A c.57C>A (p.Gly19=) c.-502C>A (n.-502C>A) | |
1 | g.17005017C>A | CA338263697 | ATP13A2 | c.344G>T (p.Gly115Val) c.78G>T c.321G>T c.270G>T c.56G>T (p.Gly19Val) c.-503G>T (n.-503G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.17005017C= | CA1156072843 | ATP13A2 | c.344G= (p.Gly115=) c.78G= c.321G= c.270G= c.56G= (p.Gly19=) c.-503G= (n.-503G=) | |
1 | g.17005017C>G | CA338263702 | ATP13A2 | c.344G>C (p.Gly115Ala) c.78G>C c.321G>C c.270G>C c.56G>C (p.Gly19Ala) c.-503G>C (n.-503G>C) | |
1 | g.17005017C>T | CA338263698 | ATP13A2 | c.344G>A (p.Gly115Asp) c.78G>A c.321G>A c.270G>A c.56G>A (p.Gly19Asp) c.-503G>A (n.-503G>A) | |
1 | g.17005018C>A | CA338263709 | ATP13A2 | c.343G>T (p.Gly115Cys) c.77G>T c.320G>T c.269G>T c.55G>T (p.Gly19Cys) c.-504G>T (n.-504G>T) | |
1 | g.17005018C= | CA1156072844 | ATP13A2 | c.343G= (p.Gly115=) c.77G= c.320G= c.269G= c.55G= (p.Gly19=) c.-504G= (n.-504G=) | |
1 | g.17005018C>G | CA338263711 | ATP13A2 | c.343G>C (p.Gly115Arg) c.77G>C c.320G>C c.269G>C c.55G>C (p.Gly19Arg) c.-504G>C (n.-504G>C) | |
1 | g.17005018C>T | CA338263719 | ATP13A2 | c.343G>A (p.Gly115Ser) c.77G>A c.320G>A c.269G>A c.55G>A (p.Gly19Ser) c.-504G>A (n.-504G>A) | dbSNP |
1 | g.17005019C>A | CA338263721 | ATP13A2 | c.342G>T (p.Glu114Asp) c.76G>T c.319G>T c.268G>T c.54G>T (p.Glu18Asp) c.-505G>T (n.-505G>T) | |
1 | g.17005019C>G | CA338263723 | ATP13A2 | c.342G>C (p.Glu114Asp) c.76G>C c.319G>C c.268G>C c.54G>C (p.Glu18Asp) c.-505G>C (n.-505G>C) | |
1 | g.17005019C>T | CA416073554 | ATP13A2 | c.342G>A (p.Glu114=) c.76G>A c.319G>A c.268G>A c.54G>A (p.Glu18=) c.-505G>A (n.-505G>A) | |
1 | g.17005020T>A | CA338263724 | ATP13A2 | c.341A>T (p.Glu114Val) c.75A>T c.318A>T c.267A>T c.53A>T (p.Glu18Val) c.-506A>T (n.-506A>T) | dbSNP |
1 | g.17005020T>C | CA338263726 | ATP13A2 | c.341A>G (p.Glu114Gly) c.75A>G c.318A>G c.267A>G c.53A>G (p.Glu18Gly) c.-506A>G (n.-506A>G) | |
1 | g.17005020T>G | CA338263732 | ATP13A2 | c.341A>C (p.Glu114Ala) c.75A>C c.318A>C c.267A>C c.53A>C (p.Glu18Ala) c.-506A>C (n.-506A>C) | |
1 | g.17005021C>A | CA338263734 | ATP13A2 | c.340G>T (p.Glu114Ter) c.74G>T c.317G>T c.266G>T c.52G>T (p.Glu18Ter) c.-507G>T (n.-507G>T) | |
1 | g.17005021C= | CA1156072845 | ATP13A2 | c.340G= (p.Glu114=) c.74G= c.317G= c.266G= c.52G= (p.Glu18=) c.-507G= (n.-507G=) | |
1 | g.17005021C>G | CA338263736 | ATP13A2 | c.340G>C (p.Glu114Gln) c.74G>C c.317G>C c.266G>C c.52G>C (p.Glu18Gln) c.-507G>C (n.-507G>C) | |
1 | g.17005021C>T | CA637683 | ATP13A2 | c.340G>A (p.Glu114Lys) c.74G>A c.317G>A c.266G>A c.52G>A (p.Glu18Lys) c.-507G>A (n.-507G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005022G>A | CA637684 | ATP13A2 | c.339C>T (p.Gly113=) c.73C>T c.316C>T c.265C>T c.51C>T (p.Gly17=) c.-508C>T (n.-508C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005022G>C | CA416073569 | ATP13A2 | c.339C>G (p.Gly113=) c.73C>G c.316C>G c.265C>G c.51C>G (p.Gly17=) c.-508C>G (n.-508C>G) | |
1 | g.17005022G= | CA1142093795 | ATP13A2 | c.339C= (p.Gly113=) c.73C= c.316C= c.265C= c.51C= (p.Gly17=) c.-508C= (n.-508C=) | |
1 | g.17005022G>T | CA416073572 | ATP13A2 | c.339C>A (p.Gly113=) c.73C>A c.316C>A c.265C>A c.51C>A (p.Gly17=) c.-508C>A (n.-508C>A) | |
1 | g.17005023C>A | CA338263740 | ATP13A2 | c.338G>T (p.Gly113Val) c.72G>T c.315G>T c.264G>T c.50G>T (p.Gly17Val) c.-509G>T (n.-509G>T) | gnomAD v4 |
1 | g.17005023C>G | CA338263737 | ATP13A2 | c.338G>C (p.Gly113Ala) c.72G>C c.315G>C c.264G>C c.50G>C (p.Gly17Ala) c.-509G>C (n.-509G>C) | |
1 | g.17005023C>T | CA338263738 | ATP13A2 | c.338G>A (p.Gly113Asp) c.72G>A c.315G>A c.264G>A c.50G>A (p.Gly17Asp) c.-509G>A (n.-509G>A) | |
1 | g.17005024C>A | CA637686 | ATP13A2 | c.337G>T (p.Gly113Cys) c.71G>T c.314G>T c.263G>T c.49G>T (p.Gly17Cys) c.-510G>T (n.-510G>T) | dbSNP ExAC gnomAD v2 |
1 | g.17005024C= | CA1156072851 | ATP13A2 | c.337G= (p.Gly113=) c.71G= c.314G= c.263G= c.49G= (p.Gly17=) c.-510G= (n.-510G=) | |
1 | g.17005024C>G | CA338263743 | ATP13A2 | c.337G>C (p.Gly113Arg) c.71G>C c.314G>C c.263G>C c.49G>C (p.Gly17Arg) c.-510G>C (n.-510G>C) | |
1 | g.17005024C>T | CA637685 | ATP13A2 | c.337G>A (p.Gly113Ser) c.71G>A c.314G>A c.263G>A c.49G>A (p.Gly17Ser) c.-510G>A (n.-510G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005025G>A | CA637687 | ATP13A2 | c.336C>T (p.Ile112=) c.70C>T c.313C>T c.262C>T c.48C>T (p.Ile16=) c.-511C>T (n.-511C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005025G>C | CA338263746 | ATP13A2 | c.336C>G (p.Ile112Met) c.70C>G c.313C>G c.262C>G c.48C>G (p.Ile16Met) c.-511C>G (n.-511C>G) | |
1 | g.17005025G= | CA1143405276 | ATP13A2 | c.336C= (p.Ile112=) c.70C= c.313C= c.262C= c.48C= (p.Ile16=) c.-511C= (n.-511C=) | |
1 | g.17005025G>T | CA416073589 | ATP13A2 | c.336C>A (p.Ile112=) c.70C>A c.313C>A c.262C>A c.48C>A (p.Ile16=) c.-511C>A (n.-511C>A) | |
1 | g.17005026A>C | CA338263749 | ATP13A2 | c.335T>G (p.Ile112Ser) c.69T>G c.312T>G c.261T>G c.47T>G (p.Ile16Ser) c.-512T>G (n.-512T>G) | |
1 | g.17005026A>G | CA338263751 | ATP13A2 | c.335T>C (p.Ile112Thr) c.69T>C c.312T>C c.261T>C c.47T>C (p.Ile16Thr) c.-512T>C (n.-512T>C) | |
1 | g.17005026A>T | CA338263755 | ATP13A2 | c.335T>A (p.Ile112Asn) c.69T>A c.312T>A c.261T>A c.47T>A (p.Ile16Asn) c.-512T>A (n.-512T>A) | |
1 | g.17005027T>A | CA338263758 | ATP13A2 | c.334A>T (p.Ile112Phe) c.68A>T c.311A>T c.260A>T c.46A>T (p.Ile16Phe) c.-513A>T (n.-513A>T) | |
1 | g.17005027T>C | CA637688 | ATP13A2 | c.334A>G (p.Ile112Val) c.68A>G c.311A>G c.260A>G c.46A>G (p.Ile16Val) c.-513A>G (n.-513A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005027T>G | CA338263761 | ATP13A2 | c.334A>C (p.Ile112Leu) c.68A>C c.311A>C c.260A>C c.46A>C (p.Ile16Leu) c.-513A>C (n.-513A>C) | |
1 | g.17005027T= | CA1148454556 | ATP13A2 | c.334A= (p.Ile112=) c.68A= c.311A= c.260A= c.46A= (p.Ile16=) c.-513A= (n.-513A=) | |
1 | g.17005028G>A | CA416073608 | ATP13A2 | c.333C>T (p.Ala111=) c.67C>T c.310C>T c.259C>T c.45C>T (p.Ala15=) c.-514C>T (n.-514C>T) | |
1 | g.17005028G>C | CA416073610 | ATP13A2 | c.333C>G (p.Ala111=) c.67C>G c.310C>G c.259C>G c.45C>G (p.Ala15=) c.-514C>G (n.-514C>G) | |
1 | g.17005028G>T | CA416073605 | ATP13A2 | c.333C>A (p.Ala111=) c.67C>A c.310C>A c.259C>A c.45C>A (p.Ala15=) c.-514C>A (n.-514C>A) | |
1 | g.17005029G>A | CA338263766 | ATP13A2 | c.332C>T (p.Ala111Val) c.66C>T c.309C>T c.258C>T c.44C>T (p.Ala15Val) c.-515C>T (n.-515C>T) | |
1 | g.17005029G>C | CA338263765 | ATP13A2 | c.332C>G (p.Ala111Gly) c.66C>G c.309C>G c.258C>G c.44C>G (p.Ala15Gly) c.-515C>G (n.-515C>G) | |
1 | g.17005029G>T | CA338263764 | ATP13A2 | c.332C>A (p.Ala111Asp) c.66C>A c.309C>A c.258C>A c.44C>A (p.Ala15Asp) c.-515C>A (n.-515C>A) | |
1 | g.17005030C>A | CA338263767 | ATP13A2 | c.331G>T (p.Ala111Ser) c.65G>T c.308G>T c.257G>T c.43G>T (p.Ala15Ser) c.-516G>T (n.-516G>T) | |
1 | g.17005030C= | CA1156072860 | ATP13A2 | c.331G= (p.Ala111=) c.65G= c.308G= c.257G= c.43G= (p.Ala15=) c.-516G= (n.-516G=) | |
1 | g.17005030C>G | CA338263768 | ATP13A2 | c.331G>C (p.Ala111Pro) c.65G>C c.308G>C c.257G>C c.43G>C (p.Ala15Pro) c.-516G>C (n.-516G>C) | |
1 | g.17005030C>T | CA338263769 | ATP13A2 | c.331G>A (p.Ala111Thr) c.65G>A c.308G>A c.257G>A c.43G>A (p.Ala15Thr) c.-516G>A (n.-516G>A) | dbSNP |
1 | g.17005031C>A | CA338263770 | ATP13A2 | c.330G>T (p.Glu110Asp) c.64G>T c.307G>T c.256G>T c.42G>T (p.Glu14Asp) c.-517G>T (n.-517G>T) | |
1 | g.17005031C>G | CA338263771 | ATP13A2 | c.330G>C (p.Glu110Asp) c.64G>C c.307G>C c.256G>C c.42G>C (p.Glu14Asp) c.-517G>C (n.-517G>C) | gnomAD v4 |
1 | g.17005031C>T | CA416073636 | ATP13A2 | c.330G>A (p.Glu110=) c.64G>A c.307G>A c.256G>A c.42G>A (p.Glu14=) c.-517G>A (n.-517G>A) | |
1 | g.17005032T>A | CA338263773 | ATP13A2 | c.329A>T (p.Glu110Val) c.63A>T c.306A>T c.255A>T c.41A>T (p.Glu14Val) c.-518A>T (n.-518A>T) | |
1 | g.17005032T>C | CA338263774 | ATP13A2 | c.329A>G (p.Glu110Gly) c.63A>G c.306A>G c.255A>G c.41A>G (p.Glu14Gly) c.-518A>G (n.-518A>G) | gnomAD v4 |
1 | g.17005032T>G | CA338263775 | ATP13A2 | c.329A>C (p.Glu110Ala) c.63A>C c.306A>C c.255A>C c.41A>C (p.Glu14Ala) c.-518A>C (n.-518A>C) | |
1 | g.17005033C>A | CA338263776 | ATP13A2 | c.328G>T (p.Glu110Ter) c.62G>T c.305G>T c.254G>T c.40G>T (p.Glu14Ter) c.-519G>T (n.-519G>T) | |
1 | g.17005033C>G | CA338263777 | ATP13A2 | c.328G>C (p.Glu110Gln) c.62G>C c.305G>C c.254G>C c.40G>C (p.Glu14Gln) c.-519G>C (n.-519G>C) | |
1 | g.17005033C>T | CA338263778 | ATP13A2 | c.328G>A (p.Glu110Lys) c.62G>A c.305G>A c.254G>A c.40G>A (p.Glu14Lys) c.-519G>A (n.-519G>A) | |
1 | g.17005034A= | CA1156072864 | ATP13A2 | c.327T= (p.Thr109=) c.61T= c.304T= c.253T= c.39T= (p.Thr13=) c.-520T= (n.-520T=) | |
1 | g.17005034A>C | CA416073656 | ATP13A2 | c.327T>G (p.Thr109=) c.61T>G c.304T>G c.253T>G c.39T>G (p.Thr13=) c.-520T>G (n.-520T>G) | |
1 | g.17005034A>G | CA416073659 | ATP13A2 | c.327T>C (p.Thr109=) c.61T>C c.304T>C c.253T>C c.39T>C (p.Thr13=) c.-520T>C (n.-520T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17005034A>T | CA416073662 | ATP13A2 | c.327T>A (p.Thr109=) c.61T>A c.304T>A c.253T>A c.39T>A (p.Thr13=) c.-520T>A (n.-520T>A) | |
1 | g.17005035G>A | CA338263779 | ATP13A2 | c.326C>T (p.Thr109Ile) c.60C>T c.303C>T c.252C>T c.38C>T (p.Thr13Ile) c.-521C>T (n.-521C>T) | |
1 | g.17005035G>C | CA338263781 | ATP13A2 | c.326C>G (p.Thr109Ser) c.60C>G c.303C>G c.252C>G c.38C>G (p.Thr13Ser) c.-521C>G (n.-521C>G) | |
1 | g.17005035G>T | CA338263784 | ATP13A2 | c.326C>A (p.Thr109Asn) c.60C>A c.303C>A c.252C>A c.38C>A (p.Thr13Asn) c.-521C>A (n.-521C>A) | |
1 | g.17005036T>A | CA338263787 | ATP13A2 | c.325A>T (p.Thr109Ser) c.59A>T c.302A>T c.251A>T c.37A>T (p.Thr13Ser) c.-522A>T (n.-522A>T) | |
1 | g.17005036T>C | CA338263788 | ATP13A2 | c.325A>G (p.Thr109Ala) c.59A>G c.302A>G c.251A>G c.37A>G (p.Thr13Ala) c.-522A>G (n.-522A>G) | |
1 | g.17005036T>G | CA338263786 | ATP13A2 | c.325A>C (p.Thr109Pro) c.59A>C c.302A>C c.251A>C c.37A>C (p.Thr13Pro) c.-522A>C (n.-522A>C) | |
1 | g.17005037C>A | CA338263789 | ATP13A2 | c.324G>T (p.Gln108His) c.58G>T c.301G>T c.250G>T c.36G>T (p.Gln12His) c.-523G>T (n.-523G>T) | |
1 | g.17005037C>G | CA338263790 | ATP13A2 | c.324G>C (p.Gln108His) c.58G>C c.301G>C c.250G>C c.36G>C (p.Gln12His) c.-523G>C (n.-523G>C) | |
1 | g.17005037C>T | CA416073681 | ATP13A2 | c.324G>A (p.Gln108=) c.58G>A c.301G>A c.250G>A c.36G>A (p.Gln12=) c.-523G>A (n.-523G>A) | gnomAD v4 |
1 | g.17005038T>A | CA338263791 | ATP13A2 | c.323A>T (p.Gln108Leu) c.57A>T c.300A>T c.249A>T c.35A>T (p.Gln12Leu) c.-524A>T (n.-524A>T) | |
1 | g.17005038T>C | CA338263792 | ATP13A2 | c.323A>G (p.Gln108Arg) c.57A>G c.300A>G c.249A>G c.35A>G (p.Gln12Arg) c.-524A>G (n.-524A>G) | |
1 | g.17005038T>G | CA338263793 | ATP13A2 | c.323A>C (p.Gln108Pro) c.57A>C c.300A>C c.249A>C c.35A>C (p.Gln12Pro) c.-524A>C (n.-524A>C) | |
1 | g.17005039G>A | CA338263798 | ATP13A2 | c.322C>T (p.Gln108Ter) c.56C>T c.299C>T c.248C>T c.34C>T (p.Gln12Ter) c.-525C>T (n.-525C>T) | |
1 | g.17005039G>C | CA338263800 | ATP13A2 | c.322C>G (p.Gln108Glu) c.56C>G c.299C>G c.248C>G c.34C>G (p.Gln12Glu) c.-525C>G (n.-525C>G) | |
1 | g.17005039G>T | CA338263801 | ATP13A2 | c.322C>A (p.Gln108Lys) c.56C>A c.299C>A c.248C>A c.34C>A (p.Gln12Lys) c.-525C>A (n.-525C>A) | |
1 | g.17005040C>A | CA416073698 | ATP13A2 | c.321G>T (p.Val107=) c.55G>T c.298G>T c.247G>T c.33G>T (p.Val11=) c.-526G>T (n.-526G>T) | |
1 | g.17005040C>G | CA416073704 | ATP13A2 | c.321G>C (p.Val107=) c.55G>C c.298G>C c.247G>C c.33G>C (p.Val11=) c.-526G>C (n.-526G>C) | |
1 | g.17005040C>T | CA416073701 | ATP13A2 | c.321G>A (p.Val107=) c.55G>A c.298G>A c.247G>A c.33G>A (p.Val11=) c.-526G>A (n.-526G>A) | |
1 | g.17005041A>C | CA338263804 | ATP13A2 | c.320T>G (p.Val107Gly) c.54T>G c.297T>G c.246T>G c.32T>G (p.Val11Gly) c.-527T>G (n.-527T>G) | |
1 | g.17005041A>G | CA338263806 | ATP13A2 | c.320T>C (p.Val107Ala) c.54T>C c.297T>C c.246T>C c.32T>C (p.Val11Ala) c.-527T>C (n.-527T>C) | |
1 | g.17005041A>T | CA338263808 | ATP13A2 | c.320T>A (p.Val107Glu) c.54T>A c.297T>A c.246T>A c.32T>A (p.Val11Glu) c.-527T>A (n.-527T>A) | |
1 | g.17005042C>A | CA338263811 | ATP13A2 | c.319G>T (p.Val107Leu) c.53G>T c.296G>T c.245G>T c.31G>T (p.Val11Leu) c.-528G>T (n.-528G>T) | |
1 | g.17005042C>G | CA338263814 | ATP13A2 | c.319G>C (p.Val107Leu) c.53G>C c.296G>C c.245G>C c.31G>C (p.Val11Leu) c.-528G>C (n.-528G>C) | |
1 | g.17005042C>T | CA338263817 | ATP13A2 | c.319G>A (p.Val107Met) c.53G>A c.296G>A c.245G>A c.31G>A (p.Val11Met) c.-528G>A (n.-528G>A) | |
1 | g.17005043C>A | CA338263820 | ATP13A2 | c.318G>T (p.Gln106His) c.52G>T c.295G>T c.244G>T c.30G>T (p.Gln10His) c.-529G>T (n.-529G>T) | COSMIC COSMIC |
1 | g.17005043C= | CA1156072869 | ATP13A2 | c.318G= (p.Gln106=) c.52G= c.295G= c.244G= c.30G= (p.Gln10=) c.-529G= (n.-529G=) | |
1 | g.17005043C>G | CA338263822 | ATP13A2 | c.318G>C (p.Gln106His) c.52G>C c.295G>C c.244G>C c.30G>C (p.Gln10His) c.-529G>C (n.-529G>C) | |
1 | g.17005043C>T | CA416073722 | ATP13A2 | c.318G>A (p.Gln106=) c.52G>A c.295G>A c.244G>A c.30G>A (p.Gln10=) c.-529G>A (n.-529G>A) | dbSNP |
1 | g.17005044T>A | CA338263824 | ATP13A2 | c.317A>T (p.Gln106Leu) c.51A>T c.294A>T c.243A>T c.29A>T (p.Gln10Leu) c.-530A>T (n.-530A>T) | |
1 | g.17005044T>C | CA338263825 | ATP13A2 | c.317A>G (p.Gln106Arg) c.51A>G c.294A>G c.243A>G c.29A>G (p.Gln10Arg) c.-530A>G (n.-530A>G) | |
1 | g.17005044T>G | CA338263832 | ATP13A2 | c.317A>C (p.Gln106Pro) c.51A>C c.294A>C c.243A>C c.29A>C (p.Gln10Pro) c.-530A>C (n.-530A>C) | |
1 | g.17005045G>A | CA338263834 | ATP13A2 | c.316C>T (p.Gln106Ter) c.50C>T c.293C>T c.242C>T c.28C>T (p.Gln10Ter) c.-531C>T (n.-531C>T) | dbSNP |
1 | g.17005045G>C | CA338263835 | ATP13A2 | c.316C>G (p.Gln106Glu) c.50C>G c.293C>G c.242C>G c.28C>G (p.Gln10Glu) c.-531C>G (n.-531C>G) | |
1 | g.17005045G= | CA1156072873 | ATP13A2 | c.316C= (p.Gln106=) c.50C= c.293C= c.242C= c.28C= (p.Gln10=) c.-531C= (n.-531C=) | |
1 | g.17005045G>T | CA338263836 | ATP13A2 | c.316C>A (p.Gln106Lys) c.50C>A c.293C>A c.242C>A c.28C>A (p.Gln10Lys) c.-531C>A (n.-531C>A) | |
1 | g.17005046G>A | CA416073764 | ATP13A2 | c.315C>T (p.Val105=) c.49C>T c.292C>T c.241C>T c.27C>T (p.Val9=) c.-532C>T (n.-532C>T) | dbSNP |
1 | g.17005046G>C | CA416073766 | ATP13A2 | c.315C>G (p.Val105=) c.49C>G c.292C>G c.241C>G c.27C>G (p.Val9=) c.-532C>G (n.-532C>G) | |
1 | g.17005046G= | CA1156072875 | ATP13A2 | c.315C= (p.Val105=) c.49C= c.292C= c.241C= c.27C= (p.Val9=) c.-532C= (n.-532C=) | |
1 | g.17005046G>T | CA416073768 | ATP13A2 | c.315C>A (p.Val105=) c.49C>A c.292C>A c.241C>A c.27C>A (p.Val9=) c.-532C>A (n.-532C>A) | |
1 | g.17005047A>C | CA338263837 | ATP13A2 | c.314T>G (p.Val105Gly) c.48T>G c.291T>G c.240T>G c.26T>G (p.Val9Gly) c.-533T>G (n.-533T>G) | |
1 | g.17005047A>G | CA338263839 | ATP13A2 | c.314T>C (p.Val105Ala) c.48T>C c.291T>C c.240T>C c.26T>C (p.Val9Ala) c.-533T>C (n.-533T>C) | |
1 | g.17005047A>T | CA338263841 | ATP13A2 | c.314T>A (p.Val105Asp) c.48T>A c.291T>A c.240T>A c.26T>A (p.Val9Asp) c.-533T>A (n.-533T>A) | |
1 | g.17005048C>A | CA338263842 | ATP13A2 | c.313G>T (p.Val105Phe) c.47G>T c.290G>T c.239G>T c.25G>T (p.Val9Phe) c.-534G>T (n.-534G>T) | |
1 | g.17005048C= | CA1156072877 | ATP13A2 | c.313G= (p.Val105=) c.47G= c.290G= c.239G= c.25G= (p.Val9=) c.-534G= (n.-534G=) | |
1 | g.17005048C>G | CA338263843 | ATP13A2 | c.313G>C (p.Val105Leu) c.47G>C c.290G>C c.239G>C c.25G>C (p.Val9Leu) c.-534G>C (n.-534G>C) | |
1 | g.17005048C>T | CA338263848 | ATP13A2 | c.313G>A (p.Val105Ile) c.47G>A c.290G>A c.239G>A c.25G>A (p.Val9Ile) c.-534G>A (n.-534G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17005049A>C | CA416073800 | ATP13A2 | c.312T>G (p.Thr104=) c.46T>G c.289T>G c.238T>G c.24T>G (p.Thr8=) c.-535T>G (n.-535T>G) | |
1 | g.17005049A>G | CA416073805 | ATP13A2 | c.312T>C (p.Thr104=) c.46T>C c.289T>C c.238T>C c.24T>C (p.Thr8=) c.-535T>C (n.-535T>C) | |
1 | g.17005049A>T | CA416073807 | ATP13A2 | c.312T>A (p.Thr104=) c.46T>A c.289T>A c.238T>A c.24T>A (p.Thr8=) c.-535T>A (n.-535T>A) | |
1 | g.17005050G>A | CA338263853 | ATP13A2 | c.311C>T (p.Thr104Ile) c.45C>T c.288C>T c.237C>T c.23C>T (p.Thr8Ile) c.-536C>T (n.-536C>T) | |
1 | g.17005050G>C | CA338263857 | ATP13A2 | c.311C>G (p.Thr104Ser) c.45C>G c.288C>G c.237C>G c.23C>G (p.Thr8Ser) c.-536C>G (n.-536C>G) | |
1 | g.17005050G>T | CA338263851 | ATP13A2 | c.311C>A (p.Thr104Asn) c.45C>A c.288C>A c.237C>A c.23C>A (p.Thr8Asn) c.-536C>A (n.-536C>A) | |
1 | g.17005051T>A | CA338263859 | ATP13A2 | c.310A>T (p.Thr104Ser) c.44A>T c.287A>T c.236A>T c.22A>T (p.Thr8Ser) c.-537A>T (n.-537A>T) | |
1 | g.17005051T>C | CA338263864 | ATP13A2 | c.310A>G (p.Thr104Ala) c.44A>G c.287A>G c.236A>G c.22A>G (p.Thr8Ala) c.-537A>G (n.-537A>G) | |
1 | g.17005051T>G | CA338263861 | ATP13A2 | c.310A>C (p.Thr104Pro) c.44A>C c.287A>C c.236A>C c.22A>C (p.Thr8Pro) c.-537A>C (n.-537A>C) | |
1 | g.17005052G>A | CA416073826 | ATP13A2 | c.309C>T (p.Phe103=) c.43C>T c.286C>T c.235C>T c.21C>T (p.Phe7=) c.-538C>T (n.-538C>T) | gnomAD v4 |
1 | g.17005052G>C | CA338263865 | ATP13A2 | c.309C>G (p.Phe103Leu) c.43C>G c.286C>G c.235C>G c.21C>G (p.Phe7Leu) c.-538C>G (n.-538C>G) | dbSNP |
1 | g.17005052G= | CA1156072879 | ATP13A2 | c.309C= (p.Phe103=) c.43C= c.286C= c.235C= c.21C= (p.Phe7=) c.-538C= (n.-538C=) | |
1 | g.17005052G>T | CA338263868 | ATP13A2 | c.309C>A (p.Phe103Leu) c.43C>A c.286C>A c.235C>A c.21C>A (p.Phe7Leu) c.-538C>A (n.-538C>A) | |
1 | g.17005053A>C | CA338263873 | ATP13A2 | c.308T>G (p.Phe103Cys) c.42T>G c.285T>G c.234T>G c.20T>G (p.Phe7Cys) c.-539T>G (n.-539T>G) | |
1 | g.17005053A>G | CA338263875 | ATP13A2 | c.308T>C (p.Phe103Ser) c.42T>C c.285T>C c.234T>C c.20T>C (p.Phe7Ser) c.-539T>C (n.-539T>C) | |
1 | g.17005053A>T | CA338263876 | ATP13A2 | c.308T>A (p.Phe103Tyr) c.42T>A c.285T>A c.234T>A c.20T>A (p.Phe7Tyr) c.-539T>A (n.-539T>A) | |
1 | g.17005054A>C | CA338263878 | ATP13A2 | c.307T>G (p.Phe103Val) c.41T>G c.284T>G c.233T>G c.19T>G (p.Phe7Val) c.-540T>G (n.-540T>G) | |
1 | g.17005054A>G | CA338263880 | ATP13A2 | c.307T>C (p.Phe103Leu) c.41T>C c.284T>C c.233T>C c.19T>C (p.Phe7Leu) c.-540T>C (n.-540T>C) | |
1 | g.17005054A>T | CA338263881 | ATP13A2 | c.307T>A (p.Phe103Ile) c.41T>A c.284T>A c.233T>A c.19T>A (p.Phe7Ile) c.-540T>A (n.-540T>A) | |
1 | g.17005055G>A | CA416073847 | ATP13A2 | c.306C>T (p.Leu102=) c.40C>T c.283C>T c.232C>T c.18C>T (p.Leu6=) c.-541C>T (n.-541C>T) | |
1 | g.17005055G>C | CA416073861 | ATP13A2 | c.306C>G (p.Leu102=) c.40C>G c.283C>G c.232C>G c.18C>G (p.Leu6=) c.-541C>G (n.-541C>G) | |
1 | g.17005055G>T | CA416073859 | ATP13A2 | c.306C>A (p.Leu102=) c.40C>A c.283C>A c.232C>A c.18C>A (p.Leu6=) c.-541C>A (n.-541C>A) | |
1 | g.17005056A>C | CA338263891 | ATP13A2 | c.305T>G (p.Leu102Arg) c.39T>G c.282T>G c.231T>G c.17T>G (p.Leu6Arg) c.-542T>G (n.-542T>G) | |
1 | g.17005056A>G | CA338263883 | ATP13A2 | c.305T>C (p.Leu102Pro) c.39T>C c.282T>C c.231T>C c.17T>C (p.Leu6Pro) c.-542T>C (n.-542T>C) | |
1 | g.17005056A>T | CA338263885 | ATP13A2 | c.305T>A (p.Leu102His) c.39T>A c.282T>A c.231T>A c.17T>A (p.Leu6His) c.-542T>A (n.-542T>A) | |
1 | g.17005057G>A | CA637689 | ATP13A2 | c.304C>T (p.Leu102Phe) c.38C>T c.281C>T c.230C>T c.16C>T (p.Leu6Phe) c.-543C>T (n.-543C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005057G>C | CA338263898 | ATP13A2 | c.304C>G (p.Leu102Val) c.38C>G c.281C>G c.230C>G c.16C>G (p.Leu6Val) c.-543C>G (n.-543C>G) | |
1 | g.17005057G= | CA1156072884 | ATP13A2 | c.304C= (p.Leu102=) c.38C= c.281C= c.230C= c.16C= (p.Leu6=) c.-543C= (n.-543C=) | |
1 | g.17005057G>T | CA338263900 | ATP13A2 | c.304C>A (p.Leu102Ile) c.38C>A c.281C>A c.230C>A c.16C>A (p.Leu6Ile) c.-543C>A (n.-543C>A) | |
1 | g.17005058C>A | CA338263902 | ATP13A2 | c.303G>T (p.Gln101His) c.37G>T c.280G>T c.229G>T c.15G>T (p.Gln5His) c.-544G>T (n.-544G>T) | gnomAD v4 |
1 | g.17005058C>G | CA338263903 | ATP13A2 | c.303G>C (p.Gln101His) c.37G>C c.280G>C c.229G>C c.15G>C (p.Gln5His) c.-544G>C (n.-544G>C) | gnomAD v4 |
1 | g.17005058C>T | CA416074601 | ATP13A2 | c.303G>A (p.Gln101=) c.37G>A c.280G>A c.229G>A c.15G>A (p.Gln5=) c.-544G>A (n.-544G>A) | |
1 | g.17005059T>A | CA338263909 | ATP13A2 | c.302A>T (p.Gln101Leu) c.36A>T c.279A>T c.228A>T c.14A>T (p.Gln5Leu) c.-545A>T (n.-545A>T) | |
1 | g.17005059T>C | CA338263915 | ATP13A2 | c.302A>G (p.Gln101Arg) c.36A>G c.279A>G c.228A>G c.14A>G (p.Gln5Arg) c.-545A>G (n.-545A>G) | |
1 | g.17005059T>G | CA338263912 | ATP13A2 | c.302A>C (p.Gln101Pro) c.36A>C c.279A>C c.228A>C c.14A>C (p.Gln5Pro) c.-545A>C (n.-545A>C) | |
1 | g.17005060G>A | CA338263919 | ATP13A2 | c.301C>T (p.Gln101Ter) c.35C>T c.278C>T c.227C>T c.13C>T (p.Gln5Ter) c.-546C>T (n.-546C>T) | |
1 | g.17005060G>C | CA338263925 | ATP13A2 | c.301C>G (p.Gln101Glu) c.35C>G c.278C>G c.227C>G c.13C>G (p.Gln5Glu) c.-546C>G (n.-546C>G) | |
1 | g.17005060G= | CA1156072887 | ATP13A2 | c.301C= (p.Gln101=) c.35C= c.278C= c.227C= c.13C= (p.Gln5=) c.-546C= (n.-546C=) | |
1 | g.17005060G>T | CA338263926 | ATP13A2 | c.301C>A (p.Gln101Lys) c.35C>A c.278C>A c.227C>A c.13C>A (p.Gln5Lys) c.-546C>A (n.-546C>A) | dbSNP gnomAD v4 |
1 | g.17005061C>A | CA338263930 | ATP13A2 | c.300G>T (p.Trp100Cys) c.34G>T c.277G>T c.226G>T c.12G>T (p.Trp4Cys) c.-547G>T (n.-547G>T) | |
1 | g.17005061C>G | CA338263932 | ATP13A2 | c.300G>C (p.Trp100Cys) c.34G>C c.277G>C c.226G>C c.12G>C (p.Trp4Cys) c.-547G>C (n.-547G>C) | |
1 | g.17005061C>T | CA338263937 | ATP13A2 | c.300G>A (p.Trp100Ter) c.34G>A c.277G>A c.226G>A c.12G>A (p.Trp4Ter) c.-547G>A (n.-547G>A) | |
1 | g.17005062dup | CA637690 | ATP13A2 | c.300dup (p.Gln101AlafsTer10) c.34dup c.277dup c.226dup c.12dup (p.Gln5AlafsTer10) c.-547dup (n.-547dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005062C>A | CA338263941 | ATP13A2 | c.299G>T (p.Trp100Leu) c.33G>T c.276G>T c.225G>T c.11G>T (p.Trp4Leu) c.-548G>T (n.-548G>T) | |
1 | g.17005062C>G | CA338263942 | ATP13A2 | c.299G>C (p.Trp100Ser) c.33G>C c.276G>C c.225G>C c.11G>C (p.Trp4Ser) c.-548G>C (n.-548G>C) | |
1 | g.17005062C>T | CA338263944 | ATP13A2 | c.299G>A (p.Trp100Ter) c.33G>A c.276G>A c.225G>A c.11G>A (p.Trp4Ter) c.-548G>A (n.-548G>A) | |
1 | g.17005063A= | CA1156072894 | ATP13A2 | c.298T= (p.Trp100=) c.32T= c.275T= c.224T= c.10T= (p.Trp4=) c.-549T= (n.-549T=) | |
1 | g.17005063A>C | CA338263946 | ATP13A2 | c.298T>G (p.Trp100Gly) c.32T>G c.275T>G c.224T>G c.10T>G (p.Trp4Gly) c.-549T>G (n.-549T>G) | |
1 | g.17005063A>G | CA338263945 | ATP13A2 | c.298T>C (p.Trp100Arg) c.32T>C c.275T>C c.224T>C c.10T>C (p.Trp4Arg) c.-549T>C (n.-549T>C) | |
1 | g.17005063A>T | CA637691 | ATP13A2 | c.298T>A (p.Trp100Arg) c.32T>A c.275T>A c.224T>A c.10T>A (p.Trp4Arg) c.-549T>A (n.-549T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005064G>A | CA416074630 | ATP13A2 | c.297C>T (p.Ser99=) c.31C>T c.274C>T c.223C>T c.9C>T (p.Ser3=) c.-550C>T (n.-550C>T) | COSMIC COSMIC |
1 | g.17005064G>C | CA416074631 | ATP13A2 | c.297C>G (p.Ser99=) c.31C>G c.274C>G c.223C>G c.9C>G (p.Ser3=) c.-550C>G (n.-550C>G) | |
1 | g.17005064G>T | CA416074632 | ATP13A2 | c.297C>A (p.Ser99=) c.31C>A c.274C>A c.223C>A c.9C>A (p.Ser3=) c.-550C>A (n.-550C>A) | |
1 | g.17005065del | CA2508154014 | ATP13A2 | c.297del (p.Trp100GlyfsTer?) c.31del c.274del c.223del c.9del (p.Trp4GlyfsTer?) c.-550del (n.-550del) | |
1 | g.17005065G>A | CA338263948 | ATP13A2 | c.296C>T (p.Ser99Phe) c.30C>T c.273C>T c.222C>T c.8C>T (p.Ser3Phe) c.-551C>T (n.-551C>T) | COSMIC COSMIC |
1 | g.17005065G>C | CA338263949 | ATP13A2 | c.296C>G (p.Ser99Cys) c.30C>G c.273C>G c.222C>G c.8C>G (p.Ser3Cys) c.-551C>G (n.-551C>G) | |
1 | g.17005065G>T | CA338263951 | ATP13A2 | c.296C>A (p.Ser99Tyr) c.30C>A c.273C>A c.222C>A c.8C>A (p.Ser3Tyr) c.-551C>A (n.-551C>A) | |
1 | g.17005066A>C | CA338263953 | ATP13A2 | c.295T>G (p.Ser99Ala) c.29T>G c.272T>G c.221T>G c.7T>G (p.Ser3Ala) c.-552T>G (n.-552T>G) | |
1 | g.17005066A>G | CA338263954 | ATP13A2 | c.295T>C (p.Ser99Pro) c.29T>C c.272T>C c.221T>C c.7T>C (p.Ser3Pro) c.-552T>C (n.-552T>C) | gnomAD v4 |
1 | g.17005066A>T | CA338263955 | ATP13A2 | c.295T>A (p.Ser99Thr) c.29T>A c.272T>A c.221T>A c.7T>A (p.Ser3Thr) c.-552T>A (n.-552T>A) | |
1 | g.17005067A>C | CA338263956 | ATP13A2 | c.294T>G (p.Ser98Arg) c.28T>G c.271T>G c.220T>G c.6T>G (p.Ser2Arg) c.-553T>G (n.-553T>G) | |
1 | g.17005067A>G | CA416074639 | ATP13A2 | c.294T>C (p.Ser98=) c.28T>C c.271T>C c.220T>C c.6T>C (p.Ser2=) c.-553T>C (n.-553T>C) | |
1 | g.17005067A>T | CA338263957 | ATP13A2 | c.294T>A (p.Ser98Arg) c.28T>A c.271T>A c.220T>A c.6T>A (p.Ser2Arg) c.-553T>A (n.-553T>A) | |
1 | g.17005068C>A | CA338263958 | ATP13A2 | c.293G>T (p.Ser98Ile) c.312G>T (p.Ter104Tyr) c.27G>T c.270G>T c.219G>T c.5G>T (p.Ser2Ile) c.-554G>T (n.-554G>T) | |
1 | g.17005068C>G | CA338263959 | ATP13A2 | c.293G>C (p.Ser98Thr) c.312G>C (p.Ter104Tyr) c.27G>C c.270G>C c.219G>C c.5G>C (p.Ser2Thr) c.-554G>C (n.-554G>C) | |
1 | g.17005068C>T | CA338263960 | ATP13A2 | c.293G>A (p.Ser98Asn) c.312G>A (p.Ter104=) c.27G>A c.270G>A c.219G>A c.5G>A (p.Ser2Asn) c.-554G>A (n.-554G>A) | |
1 | g.17005069T>A | CA338263961 | ATP13A2 | c.292A>T (p.Ser98Cys) c.311A>T (p.Ter104Leu) c.26A>T c.269A>T c.218A>T c.4A>T (p.Ser2Cys) c.-555A>T (n.-555A>T) | |
1 | g.17005069T>C | CA338263963 | ATP13A2 | c.292A>G (p.Ser98Gly) c.311A>G (p.Ter104Trp) c.26A>G c.269A>G c.218A>G c.4A>G (p.Ser2Gly) c.-555A>G (n.-555A>G) | |
1 | g.17005069T>G | CA338263964 | ATP13A2 | c.292A>C (p.Ser98Arg) c.311A>C (p.Ter104Ser) c.26A>C c.269A>C c.218A>C c.4A>C (p.Ser2Arg) c.-555A>C (n.-555A>C) | |
1 | g.17005070A>C | CA338263965 | ATP13A2 | c.291T>G (p.Asp97Glu) c.310T>G (p.Ter104Glu) c.25T>G c.268T>G c.217T>G c.3T>G (p.Asp1Glu) c.-556T>G (n.-556T>G) | |
1 | g.17005070A>G | CA416074649 | ATP13A2 | c.291T>C (p.Asp97=) c.310T>C (p.Ter104Gln) c.25T>C c.268T>C c.217T>C c.3T>C (p.Asp1=) c.-556T>C (n.-556T>C) | |
1 | g.17005070A>T | CA338263966 | ATP13A2 | c.291T>A (p.Asp97Glu) c.310T>A (p.Ter104Lys) c.25T>A c.268T>A c.217T>A c.3T>A (p.Asp1Glu) c.-556T>A (n.-556T>A) | |
1 | g.17005071T>A | CA338263968 | ATP13A2 | c.290A>T (p.Asp97Val) c.309A>T (p.Gly103=) c.24A>T c.267A>T c.216A>T c.2A>T (p.Asp1Val) c.-557A>T (n.-557A>T) | |
1 | g.17005071T>C | CA338263969 | ATP13A2 | c.290A>G (p.Asp97Gly) c.309A>G (p.Gly103=) c.24A>G c.267A>G c.216A>G c.2A>G (p.Asp1Gly) c.-557A>G (n.-557A>G) | gnomAD v4 |
1 | g.17005071T>G | CA338263970 | ATP13A2 | c.290A>C (p.Asp97Ala) c.309A>C (p.Gly103=) c.24A>C c.267A>C c.216A>C c.2A>C (p.Asp1Ala) c.-557A>C (n.-557A>C) | |
1 | g.17005072C>A | CA338263971 | ATP13A2 | c.289G>T (p.Asp97Tyr) c.308G>T (p.Gly103Val) c.23G>T c.266G>T c.215G>T c.1G>T (p.Asp1Tyr) c.-558G>T (n.-558G>T) | |
1 | g.17005072C>G | CA338263973 | ATP13A2 | c.289G>C (p.Asp97His) c.308G>C (p.Gly103Ala) c.23G>C c.266G>C c.215G>C c.1G>C (p.Asp1His) c.-558G>C (n.-558G>C) | gnomAD v4 |
1 | g.17005072C>T | CA338263974 | ATP13A2 | c.289G>A (p.Asp97Asn) c.308G>A (p.Gly103Glu) c.23G>A c.266G>A c.215G>A c.1G>A (p.Asp1Asn) c.-558G>A (n.-558G>A) | |
1 | g.17005073C>A | CA338263976 | ATP13A2 | c.289-1G>T (n.289-1G>T) c.308-1G>T (n.308-1G>T) c.23-1G>T c.266-1G>T c.215-1G>T c.-558-1G>T (n.-558-1G>T) | |
1 | g.17005073C= | CA1156072897 | ATP13A2 | c.289-1G= (n.289-1G=) c.308-1G= (n.308-1G=) c.23-1G= c.266-1G= c.215-1G= c.-558-1G= (n.-558-1G=) | |
1 | g.17005073C>G | CA338263978 | ATP13A2 | c.289-1G>C (n.289-1G>C) c.308-1G>C (n.308-1G>C) c.23-1G>C c.266-1G>C c.215-1G>C c.-558-1G>C (n.-558-1G>C) | |
1 | g.17005073C>T | CA338263979 | ATP13A2 | c.289-1G>A (n.289-1G>A) c.308-1G>A (n.308-1G>A) c.23-1G>A c.266-1G>A c.215-1G>A c.-558-1G>A (n.-558-1G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17005074T>A | CA338263980 | ATP13A2 | c.289-2A>T (n.289-2A>T) c.308-2A>T (n.308-2A>T) c.23-2A>T c.266-2A>T c.215-2A>T c.-558-2A>T (n.-558-2A>T) | |
1 | g.17005074T>C | CA338263981 | ATP13A2 | c.289-2A>G (n.289-2A>G) c.308-2A>G (n.308-2A>G) c.23-2A>G c.266-2A>G c.215-2A>G c.-558-2A>G (n.-558-2A>G) | |
1 | g.17005074T>G | CA338263983 | ATP13A2 | c.289-2A>C (n.289-2A>C) c.308-2A>C (n.308-2A>C) c.23-2A>C c.266-2A>C c.215-2A>C c.-558-2A>C (n.-558-2A>C) | |
1 | g.17005074_17005075delinsTG | CA1156072899 | ATP13A2 | c.289-3_289-2delinsCA (n.289-3_289-2delinsCA) c.308-3_308-2delinsCA (n.308-3_308-2delinsCA) c.23-3_23-2delinsCA c.266-3_266-2delinsCA c.215-3_215-2delinsCA c.-558-3_-558-2delinsCA (n.-558-3_-558-2delinsCA) | |
1 | g.17005074_17005075insCTTTGTCTCTTATTTCGATAACGAGTGTTTCGGCGTGGGCCA | CA2643675547 | ATP13A2 | c.289-3_289-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.289-3_289-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG) c.308-3_308-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.308-3_308-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG) c.23-3_23-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG c.266-3_266-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG c.215-3_215-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG c.-558-3_-558-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG (n.-558-3_-558-2insTGGCCCACGCCGAAACACTCGTTATCGAAATAAGAGACAAAG) | gnomAD v4 |
1 | g.17005075G>A | CA416074671 | ATP13A2 | c.289-3C>T (n.289-3C>T) c.308-3C>T (n.308-3C>T) c.23-3C>T c.266-3C>T c.215-3C>T c.-558-3C>T (n.-558-3C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.17005075G>C | CA416074673 | ATP13A2 | c.289-3C>G (n.289-3C>G) c.308-3C>G (n.308-3C>G) c.23-3C>G c.266-3C>G c.215-3C>G c.-558-3C>G (n.-558-3C>G) | |
1 | g.17005075G>T | CA416074674 | ATP13A2 | c.289-3C>A (n.289-3C>A) c.308-3C>A (n.308-3C>A) c.23-3C>A c.266-3C>A c.215-3C>A c.-558-3C>A (n.-558-3C>A) | |
1 | g.17005075_17005076delinsGG | CA1148885469 | ATP13A2 | c.289-4_289-3delinsCC (n.289-4_289-3delinsCC) c.308-4_308-3delinsCC (n.308-4_308-3delinsCC) c.23-4_23-3delinsCC c.266-4_266-3delinsCC c.215-4_215-3delinsCC c.-558-4_-558-3delinsCC (n.-558-4_-558-3delinsCC) | |
1 | g.17005076del | CA637692 | ATP13A2 | c.289-3del (n.289-3del) c.308-3del (n.308-3del) c.23-3del c.266-3del c.215-3del c.-558-3del (n.-558-3del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005076G>A | CA416074678 | ATP13A2 | c.289-4C>T (n.289-4C>T) c.308-4C>T (n.308-4C>T) c.23-4C>T c.266-4C>T c.215-4C>T c.-558-4C>T (n.-558-4C>T) | |
1 | g.17005076G>C | CA416074680 | ATP13A2 | c.289-4C>G (n.289-4C>G) c.308-4C>G (n.308-4C>G) c.23-4C>G c.266-4C>G c.215-4C>G c.-558-4C>G (n.-558-4C>G) | |
1 | g.17005076G= | CA1149035736 | ATP13A2 | c.289-4C= (n.289-4C=) c.308-4C= (n.308-4C=) c.23-4C= c.266-4C= c.215-4C= c.-558-4C= (n.-558-4C=) | |
1 | g.17005076G>T | CA637693 | ATP13A2 | c.289-4C>A (n.289-4C>A) c.308-4C>A (n.308-4C>A) c.23-4C>A c.266-4C>A c.215-4C>A c.-558-4C>A (n.-558-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005077A>C | CA416074691 | ATP13A2 | c.289-5T>G (n.289-5T>G) c.308-5T>G (n.308-5T>G) c.23-5T>G c.266-5T>G c.215-5T>G c.-558-5T>G (n.-558-5T>G) | |
1 | g.17005077A>G | CA416074683 | ATP13A2 | c.289-5T>C (n.289-5T>C) c.308-5T>C (n.308-5T>C) c.23-5T>C c.266-5T>C c.215-5T>C c.-558-5T>C (n.-558-5T>C) | |
1 | g.17005077A>T | CA416074686 | ATP13A2 | c.289-5T>A (n.289-5T>A) c.308-5T>A (n.308-5T>A) c.23-5T>A c.266-5T>A c.215-5T>A c.-558-5T>A (n.-558-5T>A) | |
1 | g.17005078A>C | CA416074694 | ATP13A2 | c.289-6T>G (n.289-6T>G) c.308-6T>G (n.308-6T>G) c.23-6T>G c.266-6T>G c.215-6T>G c.-558-6T>G (n.-558-6T>G) | |
1 | g.17005078A>G | CA416074696 | ATP13A2 | c.289-6T>C (n.289-6T>C) c.308-6T>C (n.308-6T>C) c.23-6T>C c.266-6T>C c.215-6T>C c.-558-6T>C (n.-558-6T>C) | |
1 | g.17005078A>T | CA416074699 | ATP13A2 | c.289-6T>A (n.289-6T>A) c.308-6T>A (n.308-6T>A) c.23-6T>A c.266-6T>A c.215-6T>A c.-558-6T>A (n.-558-6T>A) | |
1 | g.17005079C>A | CA416074701 | ATP13A2 | c.289-7G>T (n.289-7G>T) c.308-7G>T (n.308-7G>T) c.23-7G>T c.266-7G>T c.215-7G>T c.-558-7G>T (n.-558-7G>T) | |
1 | g.17005079C>G | CA416074702 | ATP13A2 | c.289-7G>C (n.289-7G>C) c.308-7G>C (n.308-7G>C) c.23-7G>C c.266-7G>C c.215-7G>C c.-558-7G>C (n.-558-7G>C) | |
1 | g.17005079C>T | CA416074705 | ATP13A2 | c.289-7G>A (n.289-7G>A) c.308-7G>A (n.308-7G>A) c.23-7G>A c.266-7G>A c.215-7G>A c.-558-7G>A (n.-558-7G>A) | |
1 | g.17005080A>C | CA416074708 | ATP13A2 | c.289-8T>G (n.289-8T>G) c.308-8T>G (n.308-8T>G) c.23-8T>G c.266-8T>G c.215-8T>G c.-558-8T>G (n.-558-8T>G) | |
1 | g.17005080A>G | CA416074712 | ATP13A2 | c.289-8T>C (n.289-8T>C) c.308-8T>C (n.308-8T>C) c.23-8T>C c.266-8T>C c.215-8T>C c.-558-8T>C (n.-558-8T>C) | |
1 | g.17005080A>T | CA416074713 | ATP13A2 | c.289-8T>A (n.289-8T>A) c.308-8T>A (n.308-8T>A) c.23-8T>A c.266-8T>A c.215-8T>A c.-558-8T>A (n.-558-8T>A) | |
1 | g.17005081C>A | CA416074715 | ATP13A2 | c.289-9G>T (n.289-9G>T) c.308-9G>T (n.308-9G>T) c.23-9G>T c.266-9G>T c.215-9G>T c.-558-9G>T (n.-558-9G>T) | |
1 | g.17005081C= | CA1156072908 | ATP13A2 | c.289-9G= (n.289-9G=) c.308-9G= (n.308-9G=) c.23-9G= c.266-9G= c.215-9G= c.-558-9G= (n.-558-9G=) | |
1 | g.17005081C>G | CA416074725 | ATP13A2 | c.289-9G>C (n.289-9G>C) c.308-9G>C (n.308-9G>C) c.23-9G>C c.266-9G>C c.215-9G>C c.-558-9G>C (n.-558-9G>C) | |
1 | g.17005081C>T | CA416074722 | ATP13A2 | c.289-9G>A (n.289-9G>A) c.308-9G>A (n.308-9G>A) c.23-9G>A c.266-9G>A c.215-9G>A c.-558-9G>A (n.-558-9G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17005082A>C | CA416074728 | ATP13A2 | c.289-10T>G (n.289-10T>G) c.308-10T>G (n.308-10T>G) c.23-10T>G c.266-10T>G c.215-10T>G c.-558-10T>G (n.-558-10T>G) | |
1 | g.17005082A>G | CA416074730 | ATP13A2 | c.289-10T>C (n.289-10T>C) c.308-10T>C (n.308-10T>C) c.23-10T>C c.266-10T>C c.215-10T>C c.-558-10T>C (n.-558-10T>C) | |
1 | g.17005082A>T | CA416074733 | ATP13A2 | c.289-10T>A (n.289-10T>A) c.308-10T>A (n.308-10T>A) c.23-10T>A c.266-10T>A c.215-10T>A c.-558-10T>A (n.-558-10T>A) | |
1 | g.17005083G>A | CA416074735 | ATP13A2 | c.289-11C>T (n.289-11C>T) c.308-11C>T (n.308-11C>T) c.23-11C>T c.266-11C>T c.215-11C>T c.-558-11C>T (n.-558-11C>T) | |
1 | g.17005083G>C | CA416074737 | ATP13A2 | c.289-11C>G (n.289-11C>G) c.308-11C>G (n.308-11C>G) c.23-11C>G c.266-11C>G c.215-11C>G c.-558-11C>G (n.-558-11C>G) | |
1 | g.17005083G>T | CA416074739 | ATP13A2 | c.289-11C>A (n.289-11C>A) c.308-11C>A (n.308-11C>A) c.23-11C>A c.266-11C>A c.215-11C>A c.-558-11C>A (n.-558-11C>A) | |
1 | g.17005084A>C | CA416074742 | ATP13A2 | c.289-12T>G (n.289-12T>G) c.308-12T>G (n.308-12T>G) c.23-12T>G c.266-12T>G c.215-12T>G c.-558-12T>G (n.-558-12T>G) | |
1 | g.17005084A>G | CA416074744 | ATP13A2 | c.289-12T>C (n.289-12T>C) c.308-12T>C (n.308-12T>C) c.23-12T>C c.266-12T>C c.215-12T>C c.-558-12T>C (n.-558-12T>C) | ClinVar gnomAD v4 |
1 | g.17005084A>T | CA416074745 | ATP13A2 | c.289-12T>A (n.289-12T>A) c.308-12T>A (n.308-12T>A) c.23-12T>A c.266-12T>A c.215-12T>A c.-558-12T>A (n.-558-12T>A) | |
1 | g.17005084_17005086delinsAGG | CA1156072911 | ATP13A2 | c.289-14_289-12delinsCCT (n.289-14_289-12delinsCCT) c.308-14_308-12delinsCCT (n.308-14_308-12delinsCCT) c.23-14_23-12delinsCCT c.266-14_266-12delinsCCT c.215-14_215-12delinsCCT c.-558-14_-558-12delinsCCT (n.-558-14_-558-12delinsCCT) | |
1 | g.17005085G>A | CA637694 | ATP13A2 | c.289-13C>T (n.289-13C>T) c.308-13C>T (n.308-13C>T) c.23-13C>T c.266-13C>T c.215-13C>T c.-558-13C>T (n.-558-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005085G>C | CA416074746 | ATP13A2 | c.289-13C>G (n.289-13C>G) c.308-13C>G (n.308-13C>G) c.23-13C>G c.266-13C>G c.215-13C>G c.-558-13C>G (n.-558-13C>G) | |
1 | g.17005085G= | CA1156072913 | ATP13A2 | c.289-13C= (n.289-13C=) c.308-13C= (n.308-13C=) c.23-13C= c.266-13C= c.215-13C= c.-558-13C= (n.-558-13C=) | |
1 | g.17005085G>T | CA416074747 | ATP13A2 | c.289-13C>A (n.289-13C>A) c.308-13C>A (n.308-13C>A) c.23-13C>A c.266-13C>A c.215-13C>A c.-558-13C>A (n.-558-13C>A) | |
1 | g.17005085_17005086del | CA521449947 | ATP13A2 | c.289-14_289-13del (n.289-14_289-13del) c.308-14_308-13del (n.308-14_308-13del) c.23-14_23-13del c.266-14_266-13del c.215-14_215-13del c.-558-14_-558-13del (n.-558-14_-558-13del) | dbSNP gnomAD v2 |
1 | g.17005086G>A | CA416074753 | ATP13A2 | c.289-14C>T (n.289-14C>T) c.308-14C>T (n.308-14C>T) c.23-14C>T c.266-14C>T c.215-14C>T c.-558-14C>T (n.-558-14C>T) | gnomAD v4 |
1 | g.17005086G>C | CA416074755 | ATP13A2 | c.289-14C>G (n.289-14C>G) c.308-14C>G (n.308-14C>G) c.23-14C>G c.266-14C>G c.215-14C>G c.-558-14C>G (n.-558-14C>G) | |
1 | g.17005086G= | CA1156072916 | ATP13A2 | c.289-14C= (n.289-14C=) c.308-14C= (n.308-14C=) c.23-14C= c.266-14C= c.215-14C= c.-558-14C= (n.-558-14C=) | |
1 | g.17005086G>T | CA416074758 | ATP13A2 | c.289-14C>A (n.289-14C>A) c.308-14C>A (n.308-14C>A) c.23-14C>A c.266-14C>A c.215-14C>A c.-558-14C>A (n.-558-14C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17005087T>A | CA416074763 | ATP13A2 | c.289-15A>T (n.289-15A>T) c.308-15A>T (n.308-15A>T) c.23-15A>T c.266-15A>T c.215-15A>T c.-558-15A>T (n.-558-15A>T) | |
1 | g.17005087T>C | CA416074770 | ATP13A2 | c.289-15A>G (n.289-15A>G) c.308-15A>G (n.308-15A>G) c.23-15A>G c.266-15A>G c.215-15A>G c.-558-15A>G (n.-558-15A>G) | |
1 | g.17005087T>G | CA416074772 | ATP13A2 | c.289-15A>C (n.289-15A>C) c.308-15A>C (n.308-15A>C) c.23-15A>C c.266-15A>C c.215-15A>C c.-558-15A>C (n.-558-15A>C) | |
1 | g.17005088_17005089dup | CA637695 | ATP13A2 | c.289-16_289-15dup (n.289-16_289-15dup) c.308-16_308-15dup (n.308-16_308-15dup) c.23-16_23-15dup c.266-16_266-15dup c.215-16_215-15dup c.-558-16_-558-15dup (n.-558-16_-558-15dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17005088A>C | CA416074774 | ATP13A2 | c.289-16T>G (n.289-16T>G) c.308-16T>G (n.308-16T>G) c.23-16T>G c.266-16T>G c.215-16T>G c.-558-16T>G (n.-558-16T>G) | |
1 | g.17005088A>G | CA416074779 | ATP13A2 | c.289-16T>C (n.289-16T>C) c.308-16T>C (n.308-16T>C) c.23-16T>C c.266-16T>C c.215-16T>C c.-558-16T>C (n.-558-16T>C) | |
1 | g.17005088A>T | CA416074775 | ATP13A2 | c.289-16T>A (n.289-16T>A) c.308-16T>A (n.308-16T>A) c.23-16T>A c.266-16T>A c.215-16T>A c.-558-16T>A (n.-558-16T>A) | |
1 | g.17005089T>A | CA416074784 | ATP13A2 | c.289-17A>T (n.289-17A>T) c.308-17A>T (n.308-17A>T) c.23-17A>T c.266-17A>T c.215-17A>T c.-558-17A>T (n.-558-17A>T) | |
1 | g.17005089T>C | CA637696 | ATP13A2 | c.289-17A>G (n.289-17A>G) c.308-17A>G (n.308-17A>G) c.23-17A>G c.266-17A>G c.215-17A>G c.-558-17A>G (n.-558-17A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005089T>G | CA416074786 | ATP13A2 | c.289-17A>C (n.289-17A>C) c.308-17A>C (n.308-17A>C) c.23-17A>C c.266-17A>C c.215-17A>C c.-558-17A>C (n.-558-17A>C) | |
1 | g.17005089T= | CA1144643870 | ATP13A2 | c.289-17A= (n.289-17A=) c.308-17A= (n.308-17A=) c.23-17A= c.266-17A= c.215-17A= c.-558-17A= (n.-558-17A=) | |
1 | g.17005090G>A | CA416074787 | ATP13A2 | c.289-18C>T (n.289-18C>T) c.308-18C>T (n.308-18C>T) c.23-18C>T c.266-18C>T c.215-18C>T c.-558-18C>T (n.-558-18C>T) | gnomAD v4 |
1 | g.17005090G>C | CA416074789 | ATP13A2 | c.289-18C>G (n.289-18C>G) c.308-18C>G (n.308-18C>G) c.23-18C>G c.266-18C>G c.215-18C>G c.-558-18C>G (n.-558-18C>G) | |
1 | g.17005090G>T | CA416074791 | ATP13A2 | c.289-18C>A (n.289-18C>A) c.308-18C>A (n.308-18C>A) c.23-18C>A c.266-18C>A c.215-18C>A c.-558-18C>A (n.-558-18C>A) | |
1 | g.17005091G>A | CA416074793 | ATP13A2 | c.289-19C>T (n.289-19C>T) c.308-19C>T (n.308-19C>T) c.23-19C>T c.266-19C>T c.215-19C>T c.-558-19C>T (n.-558-19C>T) | gnomAD v4 |
1 | g.17005091G>C | CA416074794 | ATP13A2 | c.289-19C>G (n.289-19C>G) c.308-19C>G (n.308-19C>G) c.23-19C>G c.266-19C>G c.215-19C>G c.-558-19C>G (n.-558-19C>G) | |
1 | g.17005091G>T | CA416074797 | ATP13A2 | c.289-19C>A (n.289-19C>A) c.308-19C>A (n.308-19C>A) c.23-19C>A c.266-19C>A c.215-19C>A c.-558-19C>A (n.-558-19C>A) | |
1 | g.17005093C= | CA1156072918 | ATP13A2 | c.289-21G= (n.289-21G=) c.308-21G= (n.308-21G=) c.23-21G= c.266-21G= c.215-21G= c.-558-21G= (n.-558-21G=) | |
1 | g.17005093C>T | CA890973249 | ATP13A2 | c.289-21G>A (n.289-21G>A) c.308-21G>A (n.308-21G>A) c.23-21G>A c.266-21G>A c.215-21G>A c.-558-21G>A (n.-558-21G>A) | dbSNP |
1 | g.17005094T>C | CA2574234544 | ATP13A2 | c.289-22A>G (n.289-22A>G) c.308-22A>G (n.308-22A>G) c.23-22A>G c.266-22A>G c.215-22A>G c.-558-22A>G (n.-558-22A>G) | |
1 | g.17005095C= | CA1141220215 | ATP13A2 | c.289-23G= (n.289-23G=) c.308-23G= (n.308-23G=) c.23-23G= c.266-23G= c.215-23G= c.-558-23G= (n.-558-23G=) | |
1 | g.17005095C>T | CA637697 | ATP13A2 | c.289-23G>A (n.289-23G>A) c.308-23G>A (n.308-23G>A) c.23-23G>A c.266-23G>A c.215-23G>A c.-558-23G>A (n.-558-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17005096A= | CA1156072920 | ATP13A2 | c.289-24T= (n.289-24T=) c.308-24T= (n.308-24T=) c.23-24T= c.266-24T= c.215-24T= c.-558-24T= (n.-558-24T=) | |
1 | g.17005096A>C | CA2574234549 | ATP13A2 | c.289-24T>G (n.289-24T>G) c.308-24T>G (n.308-24T>G) c.23-24T>G c.266-24T>G c.215-24T>G c.-558-24T>G (n.-558-24T>G) | gnomAD v4 |
1 | g.17005096A>G | CA2643675585 | ATP13A2 | c.289-24T>C (n.289-24T>C) c.308-24T>C (n.308-24T>C) c.23-24T>C c.266-24T>C c.215-24T>C c.-558-24T>C (n.-558-24T>C) | gnomAD v4 |
1 | g.17005096A>T | CA999069471 | ATP13A2 | c.289-24T>A (n.289-24T>A) c.308-24T>A (n.308-24T>A) c.23-24T>A c.266-24T>A c.215-24T>A c.-558-24T>A (n.-558-24T>A) | dbSNP gnomAD v3 gnomAD v4 |