Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46031565_46031566del | CA2638370827 | KANSL1 | c.3230_3231del (p.Glu1077GlyfsTer?) c.3227_3228del (p.Glu1076GlyfsTer?) c.3038_3039del (p.Glu1013GlyfsTer?) c.3098_3099del (p.Glu1033GlyfsTer?) n.7447_7448del n.1003_1004del n.1202_1203del c.3128_3129del (p.Glu1043GlyfsTer?) c.3041_3042del (p.Glu1014GlyfsTer?) c.2000_2001del (p.Glu667GlyfsTer?) | gnomAD v4 |
17 | g.46031564T>A | CA8618343 | KANSL1 | c.3230A>T (p.Glu1077Val) c.3227A>T (p.Glu1076Val) c.3038A>T (p.Glu1013Val) c.3098A>T (p.Glu1033Val) n.7447A>T n.1003A>T n.1202A>T c.3128A>T (p.Glu1043Val) c.3041A>T (p.Glu1014Val) c.2000A>T (p.Glu667Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031564T>C | CA399985802 | KANSL1 | c.3230A>G (p.Glu1077Gly) c.3227A>G (p.Glu1076Gly) c.3038A>G (p.Glu1013Gly) c.3098A>G (p.Glu1033Gly) n.7447A>G n.1003A>G n.1202A>G c.3128A>G (p.Glu1043Gly) c.3041A>G (p.Glu1014Gly) c.2000A>G (p.Glu667Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031564T>G | CA399985804 | KANSL1 | c.3230A>C (p.Glu1077Ala) c.3227A>C (p.Glu1076Ala) c.3038A>C (p.Glu1013Ala) c.3098A>C (p.Glu1033Ala) n.7447A>C n.1003A>C n.1202A>C c.3128A>C (p.Glu1043Ala) c.3041A>C (p.Glu1014Ala) c.2000A>C (p.Glu667Ala) | |
17 | g.46031564T= | CA2262110743 | KANSL1 | c.3230A= (p.Glu1077=) c.3227A= (p.Glu1076=) c.3038A= (p.Glu1013=) c.3098A= (p.Glu1033=) n.7447A= n.1003A= n.1202A= c.3128A= (p.Glu1043=) c.3041A= (p.Glu1014=) c.2000A= (p.Glu667=) | |
17 | g.46031565C>A | CA399985806 | KANSL1 | c.3229G>T (p.Glu1077Ter) c.3226G>T (p.Glu1076Ter) c.3037G>T (p.Glu1013Ter) c.3097G>T (p.Glu1033Ter) n.7446G>T n.1002G>T n.1201G>T c.3127G>T (p.Glu1043Ter) c.3040G>T (p.Glu1014Ter) c.1999G>T (p.Glu667Ter) | |
17 | g.46031565C>G | CA399985808 | KANSL1 | c.3229G>C (p.Glu1077Gln) c.3226G>C (p.Glu1076Gln) c.3037G>C (p.Glu1013Gln) c.3097G>C (p.Glu1033Gln) n.7446G>C n.1002G>C n.1201G>C c.3127G>C (p.Glu1043Gln) c.3040G>C (p.Glu1014Gln) c.1999G>C (p.Glu667Gln) | |
17 | g.46031565C>T | CA399985810 | KANSL1 | c.3229G>A (p.Glu1077Lys) c.3226G>A (p.Glu1076Lys) c.3037G>A (p.Glu1013Lys) c.3097G>A (p.Glu1033Lys) n.7446G>A n.1002G>A n.1201G>A c.3127G>A (p.Glu1043Lys) c.3040G>A (p.Glu1014Lys) c.1999G>A (p.Glu667Lys) | |
17 | g.46031566T>A | CA500371646 | KANSL1 | c.3228A>T (p.Thr1076=) c.3225A>T (p.Thr1075=) c.3036A>T (p.Thr1012=) c.3096A>T (p.Thr1032=) n.7445A>T n.1001A>T n.1200A>T c.3126A>T (p.Thr1042=) c.3039A>T (p.Thr1013=) c.1998A>T (p.Thr666=) | |
17 | g.46031566T>C | CA500371645 | KANSL1 | c.3228A>G (p.Thr1076=) c.3225A>G (p.Thr1075=) c.3036A>G (p.Thr1012=) c.3096A>G (p.Thr1032=) n.7445A>G n.1001A>G n.1200A>G c.3126A>G (p.Thr1042=) c.3039A>G (p.Thr1013=) c.1998A>G (p.Thr666=) | gnomAD v4 |
17 | g.46031566T>G | CA500371647 | KANSL1 | c.3228A>C (p.Thr1076=) c.3225A>C (p.Thr1075=) c.3036A>C (p.Thr1012=) c.3096A>C (p.Thr1032=) n.7445A>C n.1001A>C n.1200A>C c.3126A>C (p.Thr1042=) c.3039A>C (p.Thr1013=) c.1998A>C (p.Thr666=) | gnomAD v4 |
17 | g.46031567G>A | CA399985816 | KANSL1 | c.3227C>T (p.Thr1076Ile) c.3224C>T (p.Thr1075Ile) c.3035C>T (p.Thr1012Ile) c.3095C>T (p.Thr1032Ile) n.7444C>T n.1000C>T n.1199C>T c.3125C>T (p.Thr1042Ile) c.3038C>T (p.Thr1013Ile) c.1997C>T (p.Thr666Ile) | |
17 | g.46031567G>C | CA399985817 | KANSL1 | c.3227C>G (p.Thr1076Arg) c.3224C>G (p.Thr1075Arg) c.3035C>G (p.Thr1012Arg) c.3095C>G (p.Thr1032Arg) n.7444C>G n.1000C>G n.1199C>G c.3125C>G (p.Thr1042Arg) c.3038C>G (p.Thr1013Arg) c.1997C>G (p.Thr666Arg) | dbSNP |
17 | g.46031567G= | CA2262110744 | KANSL1 | c.3227C= (p.Thr1076=) c.3224C= (p.Thr1075=) c.3035C= (p.Thr1012=) c.3095C= (p.Thr1032=) n.7444C= n.1000C= n.1199C= c.3125C= (p.Thr1042=) c.3038C= (p.Thr1013=) c.1997C= (p.Thr666=) | |
17 | g.46031567G>T | CA399985813 | KANSL1 | c.3227C>A (p.Thr1076Lys) c.3224C>A (p.Thr1075Lys) c.3035C>A (p.Thr1012Lys) c.3095C>A (p.Thr1032Lys) n.7444C>A n.1000C>A n.1199C>A c.3125C>A (p.Thr1042Lys) c.3038C>A (p.Thr1013Lys) c.1997C>A (p.Thr666Lys) | |
17 | g.46031568T>A | CA399985819 | KANSL1 | c.3226A>T (p.Thr1076Ser) c.3223A>T (p.Thr1075Ser) c.3034A>T (p.Thr1012Ser) c.3094A>T (p.Thr1032Ser) n.7443A>T n.999A>T n.1198A>T c.3124A>T (p.Thr1042Ser) c.3037A>T (p.Thr1013Ser) c.1996A>T (p.Thr666Ser) | |
17 | g.46031568T>C | CA399985822 | KANSL1 | c.3226A>G (p.Thr1076Ala) c.3223A>G (p.Thr1075Ala) c.3034A>G (p.Thr1012Ala) c.3094A>G (p.Thr1032Ala) n.7443A>G n.999A>G n.1198A>G c.3124A>G (p.Thr1042Ala) c.3037A>G (p.Thr1013Ala) c.1996A>G (p.Thr666Ala) | |
17 | g.46031568T>G | CA399985824 | KANSL1 | c.3226A>C (p.Thr1076Pro) c.3223A>C (p.Thr1075Pro) c.3034A>C (p.Thr1012Pro) c.3094A>C (p.Thr1032Pro) n.7443A>C n.999A>C n.1198A>C c.3124A>C (p.Thr1042Pro) c.3037A>C (p.Thr1013Pro) c.1996A>C (p.Thr666Pro) | |
17 | g.46031569C>A | CA8618344 | KANSL1 | c.3225G>T (p.Glu1075Asp) c.3222G>T (p.Glu1074Asp) c.3033G>T (p.Glu1011Asp) c.3093G>T (p.Glu1031Asp) n.7442G>T n.998G>T n.1197G>T c.3123G>T (p.Glu1041Asp) c.3036G>T (p.Glu1012Asp) c.1995G>T (p.Glu665Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031569C= | CA2262110745 | KANSL1 | c.3225G= (p.Glu1075=) c.3222G= (p.Glu1074=) c.3033G= (p.Glu1011=) c.3093G= (p.Glu1031=) n.7442G= n.998G= n.1197G= c.3123G= (p.Glu1041=) c.3036G= (p.Glu1012=) c.1995G= (p.Glu665=) | |
17 | g.46031569C>G | CA399985828 | KANSL1 | c.3225G>C (p.Glu1075Asp) c.3222G>C (p.Glu1074Asp) c.3033G>C (p.Glu1011Asp) c.3093G>C (p.Glu1031Asp) n.7442G>C n.998G>C n.1197G>C c.3123G>C (p.Glu1041Asp) c.3036G>C (p.Glu1012Asp) c.1995G>C (p.Glu665Asp) | |
17 | g.46031569C>T | CA500371648 | KANSL1 | c.3225G>A (p.Glu1075=) c.3222G>A (p.Glu1074=) c.3033G>A (p.Glu1011=) c.3093G>A (p.Glu1031=) n.7442G>A n.998G>A n.1197G>A c.3123G>A (p.Glu1041=) c.3036G>A (p.Glu1012=) c.1995G>A (p.Glu665=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031570T>A | CA399985831 | KANSL1 | c.3224A>T (p.Glu1075Val) c.3221A>T (p.Glu1074Val) c.3032A>T (p.Glu1011Val) c.3092A>T (p.Glu1031Val) n.7441A>T n.997A>T n.1196A>T c.3122A>T (p.Glu1041Val) c.3035A>T (p.Glu1012Val) c.1994A>T (p.Glu665Val) | |
17 | g.46031570T>C | CA399985834 | KANSL1 | c.3224A>G (p.Glu1075Gly) c.3221A>G (p.Glu1074Gly) c.3032A>G (p.Glu1011Gly) c.3092A>G (p.Glu1031Gly) n.7441A>G n.997A>G n.1196A>G c.3122A>G (p.Glu1041Gly) c.3035A>G (p.Glu1012Gly) c.1994A>G (p.Glu665Gly) | |
17 | g.46031570T>G | CA8618345 | KANSL1 | c.3224A>C (p.Glu1075Ala) c.3221A>C (p.Glu1074Ala) c.3032A>C (p.Glu1011Ala) c.3092A>C (p.Glu1031Ala) n.7441A>C n.997A>C n.1196A>C c.3122A>C (p.Glu1041Ala) c.3035A>C (p.Glu1012Ala) c.1994A>C (p.Glu665Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031570T= | CA2262110746 | KANSL1 | c.3224A= (p.Glu1075=) c.3221A= (p.Glu1074=) c.3032A= (p.Glu1011=) c.3092A= (p.Glu1031=) n.7441A= n.997A= n.1196A= c.3122A= (p.Glu1041=) c.3035A= (p.Glu1012=) c.1994A= (p.Glu665=) | |
17 | g.46031571C>A | CA399985838 | KANSL1 | c.3223G>T (p.Glu1075Ter) c.3220G>T (p.Glu1074Ter) c.3031G>T (p.Glu1011Ter) c.3091G>T (p.Glu1031Ter) n.7440G>T n.996G>T n.1195G>T c.3121G>T (p.Glu1041Ter) c.3034G>T (p.Glu1012Ter) c.1993G>T (p.Glu665Ter) | |
17 | g.46031571C>G | CA399985840 | KANSL1 | c.3223G>C (p.Glu1075Gln) c.3220G>C (p.Glu1074Gln) c.3031G>C (p.Glu1011Gln) c.3091G>C (p.Glu1031Gln) n.7440G>C n.996G>C n.1195G>C c.3121G>C (p.Glu1041Gln) c.3034G>C (p.Glu1012Gln) c.1993G>C (p.Glu665Gln) | |
17 | g.46031571C>T | CA399985841 | KANSL1 | c.3223G>A (p.Glu1075Lys) c.3220G>A (p.Glu1074Lys) c.3031G>A (p.Glu1011Lys) c.3091G>A (p.Glu1031Lys) n.7440G>A n.996G>A n.1195G>A c.3121G>A (p.Glu1041Lys) c.3034G>A (p.Glu1012Lys) c.1993G>A (p.Glu665Lys) | gnomAD v4 |
17 | g.46031572C>A | CA500371650 | KANSL1 | c.3222G>T (p.Arg1074=) c.3219G>T (p.Arg1073=) c.3030G>T (p.Arg1010=) c.3090G>T (p.Arg1030=) n.7439G>T n.995G>T n.1194G>T c.3120G>T (p.Arg1040=) c.3033G>T (p.Arg1011=) c.1992G>T (p.Arg664=) | |
17 | g.46031572C>G | CA500371649 | KANSL1 | c.3222G>C (p.Arg1074=) c.3219G>C (p.Arg1073=) c.3030G>C (p.Arg1010=) c.3090G>C (p.Arg1030=) n.7439G>C n.995G>C n.1194G>C c.3120G>C (p.Arg1040=) c.3033G>C (p.Arg1011=) c.1992G>C (p.Arg664=) | |
17 | g.46031572C>T | CA500371651 | KANSL1 | c.3222G>A (p.Arg1074=) c.3219G>A (p.Arg1073=) c.3030G>A (p.Arg1010=) c.3090G>A (p.Arg1030=) n.7439G>A n.995G>A n.1194G>A c.3120G>A (p.Arg1040=) c.3033G>A (p.Arg1011=) c.1992G>A (p.Arg664=) | |
17 | g.46031573C>A | CA399985844 | KANSL1 | c.3221G>T (p.Arg1074Leu) c.3218G>T (p.Arg1073Leu) c.3029G>T (p.Arg1010Leu) c.3089G>T (p.Arg1030Leu) n.7438G>T n.994G>T n.1193G>T c.3119G>T (p.Arg1040Leu) c.3032G>T (p.Arg1011Leu) c.1991G>T (p.Arg664Leu) | gnomAD v4 |
17 | g.46031573C= | CA2262110747 | KANSL1 | c.3221G= (p.Arg1074=) c.3218G= (p.Arg1073=) c.3029G= (p.Arg1010=) c.3089G= (p.Arg1030=) n.7438G= n.994G= n.1193G= c.3119G= (p.Arg1040=) c.3032G= (p.Arg1011=) c.1991G= (p.Arg664=) | |
17 | g.46031573C>G | CA399985846 | KANSL1 | c.3221G>C (p.Arg1074Pro) c.3218G>C (p.Arg1073Pro) c.3029G>C (p.Arg1010Pro) c.3089G>C (p.Arg1030Pro) n.7438G>C n.994G>C n.1193G>C c.3119G>C (p.Arg1040Pro) c.3032G>C (p.Arg1011Pro) c.1991G>C (p.Arg664Pro) | |
17 | g.46031573C>T | CA8618346 | KANSL1 | c.3221G>A (p.Arg1074Gln) c.3218G>A (p.Arg1073Gln) c.3029G>A (p.Arg1010Gln) c.3089G>A (p.Arg1030Gln) n.7438G>A n.994G>A n.1193G>A c.3119G>A (p.Arg1040Gln) c.3032G>A (p.Arg1011Gln) c.1991G>A (p.Arg664Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031574G>A | CA399985852 | KANSL1 | c.3220C>T (p.Arg1074Trp) c.3217C>T (p.Arg1073Trp) c.3028C>T (p.Arg1010Trp) c.3088C>T (p.Arg1030Trp) n.7437C>T n.993C>T n.1192C>T c.3118C>T (p.Arg1040Trp) c.3031C>T (p.Arg1011Trp) c.1990C>T (p.Arg664Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.46031574G>C | CA399985850 | KANSL1 | c.3220C>G (p.Arg1074Gly) c.3217C>G (p.Arg1073Gly) c.3028C>G (p.Arg1010Gly) c.3088C>G (p.Arg1030Gly) n.7437C>G n.993C>G n.1192C>G c.3118C>G (p.Arg1040Gly) c.3031C>G (p.Arg1011Gly) c.1990C>G (p.Arg664Gly) | |
17 | g.46031574G= | CA2262110748 | KANSL1 | c.3220C= (p.Arg1074=) c.3217C= (p.Arg1073=) c.3028C= (p.Arg1010=) c.3088C= (p.Arg1030=) n.7437C= n.993C= n.1192C= c.3118C= (p.Arg1040=) c.3031C= (p.Arg1011=) c.1990C= (p.Arg664=) | |
17 | g.46031574G>T | CA500371652 | KANSL1 | c.3220C>A (p.Arg1074=) c.3217C>A (p.Arg1073=) c.3028C>A (p.Arg1010=) c.3088C>A (p.Arg1030=) n.7437C>A n.993C>A n.1192C>A c.3118C>A (p.Arg1040=) c.3031C>A (p.Arg1011=) c.1990C>A (p.Arg664=) | |
17 | g.46031575G>A | CA500371654 | KANSL1 | c.3219C>T (p.Gly1073=) c.3216C>T (p.Gly1072=) c.3027C>T (p.Gly1009=) c.3087C>T (p.Gly1029=) n.7436C>T n.992C>T n.1191C>T c.3117C>T (p.Gly1039=) c.3030C>T (p.Gly1010=) c.1989C>T (p.Gly663=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031575G>C | CA500371655 | KANSL1 | c.3219C>G (p.Gly1073=) c.3216C>G (p.Gly1072=) c.3027C>G (p.Gly1009=) c.3087C>G (p.Gly1029=) n.7436C>G n.992C>G n.1191C>G c.3117C>G (p.Gly1039=) c.3030C>G (p.Gly1010=) c.1989C>G (p.Gly663=) | |
17 | g.46031575G= | CA2262110749 | KANSL1 | c.3219C= (p.Gly1073=) c.3216C= (p.Gly1072=) c.3027C= (p.Gly1009=) c.3087C= (p.Gly1029=) n.7436C= n.992C= n.1191C= c.3117C= (p.Gly1039=) c.3030C= (p.Gly1010=) c.1989C= (p.Gly663=) | |
17 | g.46031575G>T | CA500371653 | KANSL1 | c.3219C>A (p.Gly1073=) c.3216C>A (p.Gly1072=) c.3027C>A (p.Gly1009=) c.3087C>A (p.Gly1029=) n.7436C>A n.992C>A n.1191C>A c.3117C>A (p.Gly1039=) c.3030C>A (p.Gly1010=) c.1989C>A (p.Gly663=) | |
17 | g.46031576C>A | CA399985855 | KANSL1 | c.3218G>T (p.Gly1073Val) c.3215G>T (p.Gly1072Val) c.3026G>T (p.Gly1009Val) c.3086G>T (p.Gly1029Val) n.7435G>T n.991G>T n.1190G>T c.3116G>T (p.Gly1039Val) c.3029G>T (p.Gly1010Val) c.1988G>T (p.Gly663Val) | dbSNP gnomAD v4 |
17 | g.46031576C= | CA2262110750 | KANSL1 | c.3218G= (p.Gly1073=) c.3215G= (p.Gly1072=) c.3026G= (p.Gly1009=) c.3086G= (p.Gly1029=) n.7435G= n.991G= n.1190G= c.3116G= (p.Gly1039=) c.3029G= (p.Gly1010=) c.1988G= (p.Gly663=) | |
17 | g.46031576C>G | CA399985857 | KANSL1 | c.3218G>C (p.Gly1073Ala) c.3215G>C (p.Gly1072Ala) c.3026G>C (p.Gly1009Ala) c.3086G>C (p.Gly1029Ala) n.7435G>C n.991G>C n.1190G>C c.3116G>C (p.Gly1039Ala) c.3029G>C (p.Gly1010Ala) c.1988G>C (p.Gly663Ala) | |
17 | g.46031576C>T | CA8618347 | KANSL1 | c.3218G>A (p.Gly1073Asp) c.3215G>A (p.Gly1072Asp) c.3026G>A (p.Gly1009Asp) c.3086G>A (p.Gly1029Asp) n.7435G>A n.991G>A n.1190G>A c.3116G>A (p.Gly1039Asp) c.3029G>A (p.Gly1010Asp) c.1988G>A (p.Gly663Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031577C>A | CA399985862 | KANSL1 | c.3217G>T (p.Gly1073Cys) c.3214G>T (p.Gly1072Cys) c.3025G>T (p.Gly1009Cys) c.3085G>T (p.Gly1029Cys) n.7434G>T n.990G>T n.1189G>T c.3115G>T (p.Gly1039Cys) c.3028G>T (p.Gly1010Cys) c.1987G>T (p.Gly663Cys) | |
17 | g.46031577C>G | CA399985863 | KANSL1 | c.3217G>C (p.Gly1073Arg) c.3214G>C (p.Gly1072Arg) c.3025G>C (p.Gly1009Arg) c.3085G>C (p.Gly1029Arg) n.7434G>C n.990G>C n.1189G>C c.3115G>C (p.Gly1039Arg) c.3028G>C (p.Gly1010Arg) c.1987G>C (p.Gly663Arg) | gnomAD v4 |
17 | g.46031577C>T | CA399985866 | KANSL1 | c.3217G>A (p.Gly1073Ser) c.3214G>A (p.Gly1072Ser) c.3025G>A (p.Gly1009Ser) c.3085G>A (p.Gly1029Ser) n.7434G>A n.990G>A n.1189G>A c.3115G>A (p.Gly1039Ser) c.3028G>A (p.Gly1010Ser) c.1987G>A (p.Gly663Ser) | |
17 | g.46031577_46031578del | CA2638370854 | KANSL1 | c.3216_3217del (p.Gly1073ProfsTer?) c.3213_3214del (p.Gly1072ProfsTer?) c.3024_3025del (p.Gly1009ProfsTer?) c.3084_3085del (p.Gly1029ProfsTer?) n.7433_7434del n.989_990del n.1188_1189del c.3114_3115del (p.Gly1039ProfsTer?) c.3027_3028del (p.Gly1010ProfsTer?) c.1986_1987del (p.Gly663ProfsTer?) | gnomAD v4 |
17 | g.46031578A>C | CA500371656 | KANSL1 | c.3216T>G (p.Thr1072=) c.3213T>G (p.Thr1071=) c.3024T>G (p.Thr1008=) c.3084T>G (p.Thr1028=) n.7433T>G n.989T>G n.1188T>G c.3114T>G (p.Thr1038=) c.3027T>G (p.Thr1009=) c.1986T>G (p.Thr662=) | |
17 | g.46031578A>G | CA500371658 | KANSL1 | c.3216T>C (p.Thr1072=) c.3213T>C (p.Thr1071=) c.3024T>C (p.Thr1008=) c.3084T>C (p.Thr1028=) n.7433T>C n.989T>C n.1188T>C c.3114T>C (p.Thr1038=) c.3027T>C (p.Thr1009=) c.1986T>C (p.Thr662=) | |
17 | g.46031578A>T | CA500371657 | KANSL1 | c.3216T>A (p.Thr1072=) c.3213T>A (p.Thr1071=) c.3024T>A (p.Thr1008=) c.3084T>A (p.Thr1028=) n.7433T>A n.989T>A n.1188T>A c.3114T>A (p.Thr1038=) c.3027T>A (p.Thr1009=) c.1986T>A (p.Thr662=) | |
17 | g.46031579G>A | CA16608476 | KANSL1 | c.3215C>T (p.Thr1072Ile) c.3212C>T (p.Thr1071Ile) c.3023C>T (p.Thr1008Ile) c.3083C>T (p.Thr1028Ile) n.7432C>T n.988C>T n.1187C>T c.3113C>T (p.Thr1038Ile) c.3026C>T (p.Thr1009Ile) c.1985C>T (p.Thr662Ile) | ClinVar dbSNP |
17 | g.46031579G>C | CA399985868 | KANSL1 | c.3215C>G (p.Thr1072Ser) c.3212C>G (p.Thr1071Ser) c.3023C>G (p.Thr1008Ser) c.3083C>G (p.Thr1028Ser) n.7432C>G n.988C>G n.1187C>G c.3113C>G (p.Thr1038Ser) c.3026C>G (p.Thr1009Ser) c.1985C>G (p.Thr662Ser) | |
17 | g.46031579G= | CA2262110751 | KANSL1 | c.3215C= (p.Thr1072=) c.3212C= (p.Thr1071=) c.3023C= (p.Thr1008=) c.3083C= (p.Thr1028=) n.7432C= n.988C= n.1187C= c.3113C= (p.Thr1038=) c.3026C= (p.Thr1009=) c.1985C= (p.Thr662=) | |
17 | g.46031579G>T | CA399985870 | KANSL1 | c.3215C>A (p.Thr1072Asn) c.3212C>A (p.Thr1071Asn) c.3023C>A (p.Thr1008Asn) c.3083C>A (p.Thr1028Asn) n.7432C>A n.988C>A n.1187C>A c.3113C>A (p.Thr1038Asn) c.3026C>A (p.Thr1009Asn) c.1985C>A (p.Thr662Asn) | |
17 | g.46031580T>A | CA399985877 | KANSL1 | c.3214A>T (p.Thr1072Ser) c.3211A>T (p.Thr1071Ser) c.3022A>T (p.Thr1008Ser) c.3082A>T (p.Thr1028Ser) n.7431A>T n.987A>T n.1186A>T c.3112A>T (p.Thr1038Ser) c.3025A>T (p.Thr1009Ser) c.1984A>T (p.Thr662Ser) | |
17 | g.46031580T>C | CA399985879 | KANSL1 | c.3214A>G (p.Thr1072Ala) c.3211A>G (p.Thr1071Ala) c.3022A>G (p.Thr1008Ala) c.3082A>G (p.Thr1028Ala) n.7431A>G n.987A>G n.1186A>G c.3112A>G (p.Thr1038Ala) c.3025A>G (p.Thr1009Ala) c.1984A>G (p.Thr662Ala) | |
17 | g.46031580T>G | CA399985880 | KANSL1 | c.3214A>C (p.Thr1072Pro) c.3211A>C (p.Thr1071Pro) c.3022A>C (p.Thr1008Pro) c.3082A>C (p.Thr1028Pro) n.7431A>C n.987A>C n.1186A>C c.3112A>C (p.Thr1038Pro) c.3025A>C (p.Thr1009Pro) c.1984A>C (p.Thr662Pro) | |
17 | g.46031581C>A | CA399985882 | KANSL1 | c.3213G>T (p.Lys1071Asn) c.3210G>T (p.Lys1070Asn) c.3021G>T (p.Lys1007Asn) c.3081G>T (p.Lys1027Asn) n.7430G>T n.986G>T n.1185G>T c.3111G>T (p.Lys1037Asn) c.3024G>T (p.Lys1008Asn) c.1983G>T (p.Lys661Asn) | |
17 | g.46031581C= | CA2262110752 | KANSL1 | c.3213G= (p.Lys1071=) c.3210G= (p.Lys1070=) c.3021G= (p.Lys1007=) c.3081G= (p.Lys1027=) n.7430G= n.986G= n.1185G= c.3111G= (p.Lys1037=) c.3024G= (p.Lys1008=) c.1983G= (p.Lys661=) | |
17 | g.46031581C>G | CA399985885 | KANSL1 | c.3213G>C (p.Lys1071Asn) c.3210G>C (p.Lys1070Asn) c.3021G>C (p.Lys1007Asn) c.3081G>C (p.Lys1027Asn) n.7430G>C n.986G>C n.1185G>C c.3111G>C (p.Lys1037Asn) c.3024G>C (p.Lys1008Asn) c.1983G>C (p.Lys661Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031581C>T | CA500371659 | KANSL1 | c.3213G>A (p.Lys1071=) c.3210G>A (p.Lys1070=) c.3021G>A (p.Lys1007=) c.3081G>A (p.Lys1027=) n.7430G>A n.986G>A n.1185G>A c.3111G>A (p.Lys1037=) c.3024G>A (p.Lys1008=) c.1983G>A (p.Lys661=) | gnomAD v4 |
17 | g.46031582T>A | CA399985891 | KANSL1 | c.3212A>T (p.Lys1071Met) c.3209A>T (p.Lys1070Met) c.3020A>T (p.Lys1007Met) c.3080A>T (p.Lys1027Met) n.7429A>T n.985A>T n.1184A>T c.3110A>T (p.Lys1037Met) c.3023A>T (p.Lys1008Met) c.1982A>T (p.Lys661Met) | |
17 | g.46031582T>C | CA399985888 | KANSL1 | c.3212A>G (p.Lys1071Arg) c.3209A>G (p.Lys1070Arg) c.3020A>G (p.Lys1007Arg) c.3080A>G (p.Lys1027Arg) n.7429A>G n.985A>G n.1184A>G c.3110A>G (p.Lys1037Arg) c.3023A>G (p.Lys1008Arg) c.1982A>G (p.Lys661Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031582T>G | CA399985890 | KANSL1 | c.3212A>C (p.Lys1071Thr) c.3209A>C (p.Lys1070Thr) c.3020A>C (p.Lys1007Thr) c.3080A>C (p.Lys1027Thr) n.7429A>C n.985A>C n.1184A>C c.3110A>C (p.Lys1037Thr) c.3023A>C (p.Lys1008Thr) c.1982A>C (p.Lys661Thr) | |
17 | g.46031582T= | CA2262110753 | KANSL1 | c.3212A= (p.Lys1071=) c.3209A= (p.Lys1070=) c.3020A= (p.Lys1007=) c.3080A= (p.Lys1027=) n.7429A= n.985A= n.1184A= c.3110A= (p.Lys1037=) c.3023A= (p.Lys1008=) c.1982A= (p.Lys661=) | |
17 | g.46031583T>A | CA399985895 | KANSL1 | c.3211A>T (p.Lys1071Ter) c.3208A>T (p.Lys1070Ter) c.3019A>T (p.Lys1007Ter) c.3079A>T (p.Lys1027Ter) n.7428A>T n.984A>T n.1183A>T c.3109A>T (p.Lys1037Ter) c.3022A>T (p.Lys1008Ter) c.1981A>T (p.Lys661Ter) | |
17 | g.46031583T>C | CA399985897 | KANSL1 | c.3211A>G (p.Lys1071Glu) c.3208A>G (p.Lys1070Glu) c.3019A>G (p.Lys1007Glu) c.3079A>G (p.Lys1027Glu) n.7428A>G n.984A>G n.1183A>G c.3109A>G (p.Lys1037Glu) c.3022A>G (p.Lys1008Glu) c.1981A>G (p.Lys661Glu) | |
17 | g.46031583T>G | CA399985899 | KANSL1 | c.3211A>C (p.Lys1071Gln) c.3208A>C (p.Lys1070Gln) c.3019A>C (p.Lys1007Gln) c.3079A>C (p.Lys1027Gln) n.7428A>C n.984A>C n.1183A>C c.3109A>C (p.Lys1037Gln) c.3022A>C (p.Lys1008Gln) c.1981A>C (p.Lys661Gln) | |
17 | g.46031584G>A | CA500371660 | KANSL1 | c.3210C>T (p.Ser1070=) c.3207C>T (p.Ser1069=) c.3018C>T (p.Ser1006=) c.3078C>T (p.Ser1026=) n.7427C>T n.983C>T n.1182C>T c.3108C>T (p.Ser1036=) c.3021C>T (p.Ser1007=) c.1980C>T (p.Ser660=) | gnomAD v4 |
17 | g.46031584G>C | CA399985902 | KANSL1 | c.3210C>G (p.Ser1070Arg) c.3207C>G (p.Ser1069Arg) c.3018C>G (p.Ser1006Arg) c.3078C>G (p.Ser1026Arg) n.7427C>G n.983C>G n.1182C>G c.3108C>G (p.Ser1036Arg) c.3021C>G (p.Ser1007Arg) c.1980C>G (p.Ser660Arg) | |
17 | g.46031584G>T | CA399985911 | KANSL1 | c.3210C>A (p.Ser1070Arg) c.3207C>A (p.Ser1069Arg) c.3018C>A (p.Ser1006Arg) c.3078C>A (p.Ser1026Arg) n.7427C>A n.983C>A n.1182C>A c.3108C>A (p.Ser1036Arg) c.3021C>A (p.Ser1007Arg) c.1980C>A (p.Ser660Arg) | |
17 | g.46031585C>A | CA399985920 | KANSL1 | c.3209G>T (p.Ser1070Ile) c.3206G>T (p.Ser1069Ile) c.3017G>T (p.Ser1006Ile) c.3077G>T (p.Ser1026Ile) n.7426G>T n.982G>T n.1181G>T c.3107G>T (p.Ser1036Ile) c.3020G>T (p.Ser1007Ile) c.1979G>T (p.Ser660Ile) | COSMIC |
17 | g.46031585C>G | CA399985918 | KANSL1 | c.3209G>C (p.Ser1070Thr) c.3206G>C (p.Ser1069Thr) c.3017G>C (p.Ser1006Thr) c.3077G>C (p.Ser1026Thr) n.7426G>C n.982G>C n.1181G>C c.3107G>C (p.Ser1036Thr) c.3020G>C (p.Ser1007Thr) c.1979G>C (p.Ser660Thr) | |
17 | g.46031585C>T | CA399985915 | KANSL1 | c.3209G>A (p.Ser1070Asn) c.3206G>A (p.Ser1069Asn) c.3017G>A (p.Ser1006Asn) c.3077G>A (p.Ser1026Asn) n.7426G>A n.982G>A n.1181G>A c.3107G>A (p.Ser1036Asn) c.3020G>A (p.Ser1007Asn) c.1979G>A (p.Ser660Asn) | |
17 | g.46031586T>A | CA399985923 | KANSL1 | c.3208A>T (p.Ser1070Cys) c.3205A>T (p.Ser1069Cys) c.3016A>T (p.Ser1006Cys) c.3076A>T (p.Ser1026Cys) n.7425A>T n.981A>T n.1180A>T c.3106A>T (p.Ser1036Cys) c.3019A>T (p.Ser1007Cys) c.1978A>T (p.Ser660Cys) | |
17 | g.46031586T>C | CA399985925 | KANSL1 | c.3208A>G (p.Ser1070Gly) c.3205A>G (p.Ser1069Gly) c.3016A>G (p.Ser1006Gly) c.3076A>G (p.Ser1026Gly) n.7425A>G n.981A>G n.1180A>G c.3106A>G (p.Ser1036Gly) c.3019A>G (p.Ser1007Gly) c.1978A>G (p.Ser660Gly) | |
17 | g.46031586T>G | CA399985927 | KANSL1 | c.3208A>C (p.Ser1070Arg) c.3205A>C (p.Ser1069Arg) c.3016A>C (p.Ser1006Arg) c.3076A>C (p.Ser1026Arg) n.7425A>C n.981A>C n.1180A>C c.3106A>C (p.Ser1036Arg) c.3019A>C (p.Ser1007Arg) c.1978A>C (p.Ser660Arg) | |
17 | g.46031587G>A | CA500371663 | KANSL1 | c.3207C>T (p.Gly1069=) c.3204C>T (p.Gly1068=) c.3015C>T (p.Gly1005=) c.3075C>T (p.Gly1025=) n.7424C>T n.980C>T n.1179C>T c.3105C>T (p.Gly1035=) c.3018C>T (p.Gly1006=) c.1977C>T (p.Gly659=) | |
17 | g.46031587G>C | CA500371662 | KANSL1 | c.3207C>G (p.Gly1069=) c.3204C>G (p.Gly1068=) c.3015C>G (p.Gly1005=) c.3075C>G (p.Gly1025=) n.7424C>G n.980C>G n.1179C>G c.3105C>G (p.Gly1035=) c.3018C>G (p.Gly1006=) c.1977C>G (p.Gly659=) | |
17 | g.46031587G>T | CA500371661 | KANSL1 | c.3207C>A (p.Gly1069=) c.3204C>A (p.Gly1068=) c.3015C>A (p.Gly1005=) c.3075C>A (p.Gly1025=) n.7424C>A n.980C>A n.1179C>A c.3105C>A (p.Gly1035=) c.3018C>A (p.Gly1006=) c.1977C>A (p.Gly659=) | gnomAD v4 |
17 | g.46031588C>A | CA399985933 | KANSL1 | c.3206G>T (p.Gly1069Val) c.3203G>T (p.Gly1068Val) c.3014G>T (p.Gly1005Val) c.3074G>T (p.Gly1025Val) n.7423G>T n.979G>T n.1178G>T c.3104G>T (p.Gly1035Val) c.3017G>T (p.Gly1006Val) c.1976G>T (p.Gly659Val) | gnomAD v4 |
17 | g.46031588C>G | CA399985936 | KANSL1 | c.3206G>C (p.Gly1069Ala) c.3203G>C (p.Gly1068Ala) c.3014G>C (p.Gly1005Ala) c.3074G>C (p.Gly1025Ala) n.7423G>C n.979G>C n.1178G>C c.3104G>C (p.Gly1035Ala) c.3017G>C (p.Gly1006Ala) c.1976G>C (p.Gly659Ala) | |
17 | g.46031588C>T | CA399985938 | KANSL1 | c.3206G>A (p.Gly1069Asp) c.3203G>A (p.Gly1068Asp) c.3014G>A (p.Gly1005Asp) c.3074G>A (p.Gly1025Asp) n.7423G>A n.979G>A n.1178G>A c.3104G>A (p.Gly1035Asp) c.3017G>A (p.Gly1006Asp) c.1976G>A (p.Gly659Asp) | |
17 | g.46031589C>A | CA399985945 | KANSL1 | c.3205G>T (p.Gly1069Cys) c.3202G>T (p.Gly1068Cys) c.3013G>T (p.Gly1005Cys) c.3073G>T (p.Gly1025Cys) n.7422G>T n.978G>T n.1177G>T c.3103G>T (p.Gly1035Cys) c.3016G>T (p.Gly1006Cys) c.1975G>T (p.Gly659Cys) | |
17 | g.46031589C>G | CA399985941 | KANSL1 | c.3205G>C (p.Gly1069Arg) c.3202G>C (p.Gly1068Arg) c.3013G>C (p.Gly1005Arg) c.3073G>C (p.Gly1025Arg) n.7422G>C n.978G>C n.1177G>C c.3103G>C (p.Gly1035Arg) c.3016G>C (p.Gly1006Arg) c.1975G>C (p.Gly659Arg) | |
17 | g.46031589C>T | CA399985943 | KANSL1 | c.3205G>A (p.Gly1069Ser) c.3202G>A (p.Gly1068Ser) c.3013G>A (p.Gly1005Ser) c.3073G>A (p.Gly1025Ser) n.7422G>A n.978G>A n.1177G>A c.3103G>A (p.Gly1035Ser) c.3016G>A (p.Gly1006Ser) c.1975G>A (p.Gly659Ser) | |
17 | g.46031590T>A | CA500371664 | KANSL1 | c.3204A>T (p.Ser1068=) c.3201A>T (p.Ser1067=) c.3012A>T (p.Ser1004=) c.3072A>T (p.Ser1024=) n.7421A>T n.977A>T n.1176A>T c.3102A>T (p.Ser1034=) c.3015A>T (p.Ser1005=) c.1974A>T (p.Ser658=) | |
17 | g.46031590T>C | CA500371665 | KANSL1 | c.3204A>G (p.Ser1068=) c.3201A>G (p.Ser1067=) c.3012A>G (p.Ser1004=) c.3072A>G (p.Ser1024=) n.7421A>G n.977A>G n.1176A>G c.3102A>G (p.Ser1034=) c.3015A>G (p.Ser1005=) c.1974A>G (p.Ser658=) | |
17 | g.46031590T>G | CA500371666 | KANSL1 | c.3204A>C (p.Ser1068=) c.3201A>C (p.Ser1067=) c.3012A>C (p.Ser1004=) c.3072A>C (p.Ser1024=) n.7421A>C n.977A>C n.1176A>C c.3102A>C (p.Ser1034=) c.3015A>C (p.Ser1005=) c.1974A>C (p.Ser658=) | |
17 | g.46031591G>A | CA399985948 | KANSL1 | c.3203C>T (p.Ser1068Leu) c.3200C>T (p.Ser1067Leu) c.3011C>T (p.Ser1004Leu) c.3071C>T (p.Ser1024Leu) n.7420C>T n.976C>T n.1175C>T c.3101C>T (p.Ser1034Leu) c.3014C>T (p.Ser1005Leu) c.1973C>T (p.Ser658Leu) | gnomAD v4 |
17 | g.46031591G>C | CA399985949 | KANSL1 | c.3203C>G (p.Ser1068Ter) c.3200C>G (p.Ser1067Ter) c.3011C>G (p.Ser1004Ter) c.3071C>G (p.Ser1024Ter) n.7420C>G n.976C>G n.1175C>G c.3101C>G (p.Ser1034Ter) c.3014C>G (p.Ser1005Ter) c.1973C>G (p.Ser658Ter) | |
17 | g.46031591G>T | CA399985952 | KANSL1 | c.3203C>A (p.Ser1068Ter) c.3200C>A (p.Ser1067Ter) c.3011C>A (p.Ser1004Ter) c.3071C>A (p.Ser1024Ter) n.7420C>A n.976C>A n.1175C>A c.3101C>A (p.Ser1034Ter) c.3014C>A (p.Ser1005Ter) c.1973C>A (p.Ser658Ter) | |
17 | g.46031592A>C | CA399985955 | KANSL1 | c.3202T>G (p.Ser1068Ala) c.3199T>G (p.Ser1067Ala) c.3010T>G (p.Ser1004Ala) c.3070T>G (p.Ser1024Ala) n.7419T>G n.975T>G n.1174T>G c.3100T>G (p.Ser1034Ala) c.3013T>G (p.Ser1005Ala) c.1972T>G (p.Ser658Ala) | |
17 | g.46031592A>G | CA399985956 | KANSL1 | c.3202T>C (p.Ser1068Pro) c.3199T>C (p.Ser1067Pro) c.3010T>C (p.Ser1004Pro) c.3070T>C (p.Ser1024Pro) n.7419T>C n.975T>C n.1174T>C c.3100T>C (p.Ser1034Pro) c.3013T>C (p.Ser1005Pro) c.1972T>C (p.Ser658Pro) | gnomAD v4 |
17 | g.46031592A>T | CA399985958 | KANSL1 | c.3202T>A (p.Ser1068Thr) c.3199T>A (p.Ser1067Thr) c.3010T>A (p.Ser1004Thr) c.3070T>A (p.Ser1024Thr) n.7419T>A n.975T>A n.1174T>A c.3100T>A (p.Ser1034Thr) c.3013T>A (p.Ser1005Thr) c.1972T>A (p.Ser658Thr) | |
17 | g.46031593G>A | CA500371667 | KANSL1 | c.3201C>T (p.Thr1067=) c.3198C>T (p.Thr1066=) c.3009C>T (p.Thr1003=) c.3069C>T (p.Thr1023=) n.7418C>T n.974C>T n.1173C>T c.3099C>T (p.Thr1033=) c.3012C>T (p.Thr1004=) c.1971C>T (p.Thr657=) | |
17 | g.46031593G>C | CA500371669 | KANSL1 | c.3201C>G (p.Thr1067=) c.3198C>G (p.Thr1066=) c.3009C>G (p.Thr1003=) c.3069C>G (p.Thr1023=) n.7418C>G n.974C>G n.1173C>G c.3099C>G (p.Thr1033=) c.3012C>G (p.Thr1004=) c.1971C>G (p.Thr657=) | |
17 | g.46031593G>T | CA500371668 | KANSL1 | c.3201C>A (p.Thr1067=) c.3198C>A (p.Thr1066=) c.3009C>A (p.Thr1003=) c.3069C>A (p.Thr1023=) n.7418C>A n.974C>A n.1173C>A c.3099C>A (p.Thr1033=) c.3012C>A (p.Thr1004=) c.1971C>A (p.Thr657=) | |
17 | g.46031594G>A | CA399985961 | KANSL1 | c.3200C>T (p.Thr1067Ile) c.3197C>T (p.Thr1066Ile) c.3008C>T (p.Thr1003Ile) c.3068C>T (p.Thr1023Ile) n.7417C>T n.973C>T n.1172C>T c.3098C>T (p.Thr1033Ile) c.3011C>T (p.Thr1004Ile) c.1970C>T (p.Thr657Ile) | |
17 | g.46031594G>C | CA399985962 | KANSL1 | c.3200C>G (p.Thr1067Ser) c.3197C>G (p.Thr1066Ser) c.3008C>G (p.Thr1003Ser) c.3068C>G (p.Thr1023Ser) n.7417C>G n.973C>G n.1172C>G c.3098C>G (p.Thr1033Ser) c.3011C>G (p.Thr1004Ser) c.1970C>G (p.Thr657Ser) | |
17 | g.46031594G>T | CA399985963 | KANSL1 | c.3200C>A (p.Thr1067Asn) c.3197C>A (p.Thr1066Asn) c.3008C>A (p.Thr1003Asn) c.3068C>A (p.Thr1023Asn) n.7417C>A n.973C>A n.1172C>A c.3098C>A (p.Thr1033Asn) c.3011C>A (p.Thr1004Asn) c.1970C>A (p.Thr657Asn) | |
17 | g.46031595T>A | CA399985964 | KANSL1 | c.3199A>T (p.Thr1067Ser) c.3196A>T (p.Thr1066Ser) c.3007A>T (p.Thr1003Ser) c.3067A>T (p.Thr1023Ser) n.7416A>T n.972A>T n.1171A>T c.3097A>T (p.Thr1033Ser) c.3010A>T (p.Thr1004Ser) c.1969A>T (p.Thr657Ser) | |
17 | g.46031595T>C | CA399985965 | KANSL1 | c.3199A>G (p.Thr1067Ala) c.3196A>G (p.Thr1066Ala) c.3007A>G (p.Thr1003Ala) c.3067A>G (p.Thr1023Ala) n.7416A>G n.972A>G n.1171A>G c.3097A>G (p.Thr1033Ala) c.3010A>G (p.Thr1004Ala) c.1969A>G (p.Thr657Ala) | |
17 | g.46031595T>G | CA399985966 | KANSL1 | c.3199A>C (p.Thr1067Pro) c.3196A>C (p.Thr1066Pro) c.3007A>C (p.Thr1003Pro) c.3067A>C (p.Thr1023Pro) n.7416A>C n.972A>C n.1171A>C c.3097A>C (p.Thr1033Pro) c.3010A>C (p.Thr1004Pro) c.1969A>C (p.Thr657Pro) | |
17 | g.46031596G>A | CA500371671 | KANSL1 | c.3198C>T (p.Arg1066=) c.3195C>T (p.Arg1065=) c.3006C>T (p.Arg1002=) c.3066C>T (p.Arg1022=) n.7415C>T n.971C>T n.1170C>T c.3096C>T (p.Arg1032=) c.3009C>T (p.Arg1003=) c.1968C>T (p.Arg656=) | |
17 | g.46031596G>C | CA500371672 | KANSL1 | c.3198C>G (p.Arg1066=) c.3195C>G (p.Arg1065=) c.3006C>G (p.Arg1002=) c.3066C>G (p.Arg1022=) n.7415C>G n.971C>G n.1170C>G c.3096C>G (p.Arg1032=) c.3009C>G (p.Arg1003=) c.1968C>G (p.Arg656=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031596G= | CA2262110754 | KANSL1 | c.3198C= (p.Arg1066=) c.3195C= (p.Arg1065=) c.3006C= (p.Arg1002=) c.3066C= (p.Arg1022=) n.7415C= n.971C= n.1170C= c.3096C= (p.Arg1032=) c.3009C= (p.Arg1003=) c.1968C= (p.Arg656=) | |
17 | g.46031596G>T | CA500371670 | KANSL1 | c.3198C>A (p.Arg1066=) c.3195C>A (p.Arg1065=) c.3006C>A (p.Arg1002=) c.3066C>A (p.Arg1022=) n.7415C>A n.971C>A n.1170C>A c.3096C>A (p.Arg1032=) c.3009C>A (p.Arg1003=) c.1968C>A (p.Arg656=) | |
17 | g.46031597C>A | CA399985967 | KANSL1 | c.3197G>T (p.Arg1066Leu) c.3194G>T (p.Arg1065Leu) c.3005G>T (p.Arg1002Leu) c.3065G>T (p.Arg1022Leu) n.7414G>T n.970G>T n.1169G>T c.3095G>T (p.Arg1032Leu) c.3008G>T (p.Arg1003Leu) c.1967G>T (p.Arg656Leu) | COSMIC |
17 | g.46031597C= | CA2262110755 | KANSL1 | c.3197G= (p.Arg1066=) c.3194G= (p.Arg1065=) c.3005G= (p.Arg1002=) c.3065G= (p.Arg1022=) n.7414G= n.970G= n.1169G= c.3095G= (p.Arg1032=) c.3008G= (p.Arg1003=) c.1967G= (p.Arg656=) | |
17 | g.46031597C>G | CA399985968 | KANSL1 | c.3197G>C (p.Arg1066Pro) c.3194G>C (p.Arg1065Pro) c.3005G>C (p.Arg1002Pro) c.3065G>C (p.Arg1022Pro) n.7414G>C n.970G>C n.1169G>C c.3095G>C (p.Arg1032Pro) c.3008G>C (p.Arg1003Pro) c.1967G>C (p.Arg656Pro) | |
17 | g.46031597C>T | CA8618348 | KANSL1 | c.3197G>A (p.Arg1066His) c.3194G>A (p.Arg1065His) c.3005G>A (p.Arg1002His) c.3065G>A (p.Arg1022His) n.7414G>A n.970G>A n.1169G>A c.3095G>A (p.Arg1032His) c.3008G>A (p.Arg1003His) c.1967G>A (p.Arg656His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.46031598G>A | CA399985969 | KANSL1 | c.3196C>T (p.Arg1066Cys) c.3193C>T (p.Arg1065Cys) c.3004C>T (p.Arg1002Cys) c.3064C>T (p.Arg1022Cys) n.7413C>T n.969C>T n.1168C>T c.3094C>T (p.Arg1032Cys) c.3007C>T (p.Arg1003Cys) c.1966C>T (p.Arg656Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.46031598G>C | CA399985971 | KANSL1 | c.3196C>G (p.Arg1066Gly) c.3193C>G (p.Arg1065Gly) c.3004C>G (p.Arg1002Gly) c.3064C>G (p.Arg1022Gly) n.7413C>G n.969C>G n.1168C>G c.3094C>G (p.Arg1032Gly) c.3007C>G (p.Arg1003Gly) c.1966C>G (p.Arg656Gly) | |
17 | g.46031598G= | CA2262110756 | KANSL1 | c.3196C= (p.Arg1066=) c.3193C= (p.Arg1065=) c.3004C= (p.Arg1002=) c.3064C= (p.Arg1022=) n.7413C= n.969C= n.1168C= c.3094C= (p.Arg1032=) c.3007C= (p.Arg1003=) c.1966C= (p.Arg656=) | |
17 | g.46031598G>T | CA399985970 | KANSL1 | c.3196C>A (p.Arg1066Ser) c.3193C>A (p.Arg1065Ser) c.3004C>A (p.Arg1002Ser) c.3064C>A (p.Arg1022Ser) n.7413C>A n.969C>A n.1168C>A c.3094C>A (p.Arg1032Ser) c.3007C>A (p.Arg1003Ser) c.1966C>A (p.Arg656Ser) | |
17 | g.46031599T>A | CA500371673 | KANSL1 | c.3195A>T (p.Arg1065=) c.3192A>T (p.Arg1064=) c.3003A>T (p.Arg1001=) c.3063A>T (p.Arg1021=) n.7412A>T n.968A>T n.1167A>T c.3093A>T (p.Arg1031=) c.3006A>T (p.Arg1002=) c.1965A>T (p.Arg655=) | |
17 | g.46031599T>C | CA500371674 | KANSL1 | c.3195A>G (p.Arg1065=) c.3192A>G (p.Arg1064=) c.3003A>G (p.Arg1001=) c.3063A>G (p.Arg1021=) n.7412A>G n.968A>G n.1167A>G c.3093A>G (p.Arg1031=) c.3006A>G (p.Arg1002=) c.1965A>G (p.Arg655=) | |
17 | g.46031599T>G | CA500371675 | KANSL1 | c.3195A>C (p.Arg1065=) c.3192A>C (p.Arg1064=) c.3003A>C (p.Arg1001=) c.3063A>C (p.Arg1021=) n.7412A>C n.968A>C n.1167A>C c.3093A>C (p.Arg1031=) c.3006A>C (p.Arg1002=) c.1965A>C (p.Arg655=) | |
17 | g.46031600C>A | CA399985972 | KANSL1 | c.3194G>T (p.Arg1065Leu) c.3191G>T (p.Arg1064Leu) c.3002G>T (p.Arg1001Leu) c.3062G>T (p.Arg1021Leu) n.7411G>T n.967G>T n.1166G>T c.3092G>T (p.Arg1031Leu) c.3005G>T (p.Arg1002Leu) c.1964G>T (p.Arg655Leu) | |
17 | g.46031600C= | CA2262110757 | KANSL1 | c.3194G= (p.Arg1065=) c.3191G= (p.Arg1064=) c.3002G= (p.Arg1001=) c.3062G= (p.Arg1021=) n.7411G= n.967G= n.1166G= c.3092G= (p.Arg1031=) c.3005G= (p.Arg1002=) c.1964G= (p.Arg655=) | |
17 | g.46031600C>G | CA399985973 | KANSL1 | c.3194G>C (p.Arg1065Pro) c.3191G>C (p.Arg1064Pro) c.3002G>C (p.Arg1001Pro) c.3062G>C (p.Arg1021Pro) n.7411G>C n.967G>C n.1166G>C c.3092G>C (p.Arg1031Pro) c.3005G>C (p.Arg1002Pro) c.1964G>C (p.Arg655Pro) | |
17 | g.46031600C>T | CA399985974 | KANSL1 | c.3194G>A (p.Arg1065Gln) c.3191G>A (p.Arg1064Gln) c.3002G>A (p.Arg1001Gln) c.3062G>A (p.Arg1021Gln) n.7411G>A n.967G>A n.1166G>A c.3092G>A (p.Arg1031Gln) c.3005G>A (p.Arg1002Gln) c.1964G>A (p.Arg655Gln) | dbSNP gnomAD v4 |
17 | g.46031601G>A | CA399985975 | KANSL1 | c.3193C>T (p.Arg1065Ter) c.3190C>T (p.Arg1064Ter) c.3001C>T (p.Arg1001Ter) c.3061C>T (p.Arg1021Ter) n.7410C>T n.966C>T n.1165C>T c.3091C>T (p.Arg1031Ter) c.3004C>T (p.Arg1002Ter) c.1963C>T (p.Arg655Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.46031601G>C | CA399985976 | KANSL1 | c.3193C>G (p.Arg1065Gly) c.3190C>G (p.Arg1064Gly) c.3001C>G (p.Arg1001Gly) c.3061C>G (p.Arg1021Gly) n.7410C>G n.966C>G n.1165C>G c.3091C>G (p.Arg1031Gly) c.3004C>G (p.Arg1002Gly) c.1963C>G (p.Arg655Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.46031601G>T | CA500371676 | KANSL1 | c.3193C>A (p.Arg1065=) c.3190C>A (p.Arg1064=) c.3001C>A (p.Arg1001=) c.3061C>A (p.Arg1021=) n.7410C>A n.966C>A n.1165C>A c.3091C>A (p.Arg1031=) c.3004C>A (p.Arg1002=) c.1963C>A (p.Arg655=) | |
17 | g.46031602A= | CA2262110758 | KANSL1 | c.3192T= (p.Thr1064=) c.3189T= (p.Thr1063=) c.3000T= (p.Thr1000=) c.3060T= (p.Thr1020=) n.7409T= n.965T= n.1164T= c.3090T= (p.Thr1030=) c.3003T= (p.Thr1001=) c.1962T= (p.Thr654=) | |
17 | g.46031602A>C | CA500371679 | KANSL1 | c.3192T>G (p.Thr1064=) c.3189T>G (p.Thr1063=) c.3000T>G (p.Thr1000=) c.3060T>G (p.Thr1020=) n.7409T>G n.965T>G n.1164T>G c.3090T>G (p.Thr1030=) c.3003T>G (p.Thr1001=) c.1962T>G (p.Thr654=) | |
17 | g.46031602A>G | CA500371678 | KANSL1 | c.3192T>C (p.Thr1064=) c.3189T>C (p.Thr1063=) c.3000T>C (p.Thr1000=) c.3060T>C (p.Thr1020=) n.7409T>C n.965T>C n.1164T>C c.3090T>C (p.Thr1030=) c.3003T>C (p.Thr1001=) c.1962T>C (p.Thr654=) | dbSNP |
17 | g.46031602A>T | CA500371677 | KANSL1 | c.3192T>A (p.Thr1064=) c.3189T>A (p.Thr1063=) c.3000T>A (p.Thr1000=) c.3060T>A (p.Thr1020=) n.7409T>A n.965T>A n.1164T>A c.3090T>A (p.Thr1030=) c.3003T>A (p.Thr1001=) c.1962T>A (p.Thr654=) | |
17 | g.46031603G>A | CA399985977 | KANSL1 | c.3191C>T (p.Thr1064Ile) c.3188C>T (p.Thr1063Ile) c.2999C>T (p.Thr1000Ile) c.3059C>T (p.Thr1020Ile) n.7408C>T n.964C>T n.1163C>T c.3089C>T (p.Thr1030Ile) c.3002C>T (p.Thr1001Ile) c.1961C>T (p.Thr654Ile) | gnomAD v4 |
17 | g.46031603G>C | CA399985978 | KANSL1 | c.3191C>G (p.Thr1064Ser) c.3188C>G (p.Thr1063Ser) c.2999C>G (p.Thr1000Ser) c.3059C>G (p.Thr1020Ser) n.7408C>G n.964C>G n.1163C>G c.3089C>G (p.Thr1030Ser) c.3002C>G (p.Thr1001Ser) c.1961C>G (p.Thr654Ser) | |
17 | g.46031603G>T | CA399985979 | KANSL1 | c.3191C>A (p.Thr1064Asn) c.3188C>A (p.Thr1063Asn) c.2999C>A (p.Thr1000Asn) c.3059C>A (p.Thr1020Asn) n.7408C>A n.964C>A n.1163C>A c.3089C>A (p.Thr1030Asn) c.3002C>A (p.Thr1001Asn) c.1961C>A (p.Thr654Asn) | |
17 | g.46031604_46031610dup | CA2638370880 | KANSL1 | c.3185_3191dup (p.Arg1065LeufsTer?) c.3182_3188dup (p.Arg1064LeufsTer?) c.2993_2999dup (p.Arg1001LeufsTer?) c.3053_3059dup (p.Arg1021LeufsTer?) n.7402_7408dup n.958_964dup n.1157_1163dup c.3083_3089dup (p.Arg1031LeufsTer?) c.2996_3002dup (p.Arg1002LeufsTer?) c.1955_1961dup (p.Arg655LeufsTer?) | gnomAD v4 |
17 | g.46031604T>A | CA399985980 | KANSL1 | c.3190A>T (p.Thr1064Ser) c.3187A>T (p.Thr1063Ser) c.2998A>T (p.Thr1000Ser) c.3058A>T (p.Thr1020Ser) n.7407A>T n.963A>T n.1162A>T c.3088A>T (p.Thr1030Ser) c.3001A>T (p.Thr1001Ser) c.1960A>T (p.Thr654Ser) | |
17 | g.46031604T>C | CA291125327 | KANSL1 | c.3190A>G (p.Thr1064Ala) c.3187A>G (p.Thr1063Ala) c.2998A>G (p.Thr1000Ala) c.3058A>G (p.Thr1020Ala) n.7407A>G n.963A>G n.1162A>G c.3088A>G (p.Thr1030Ala) c.3001A>G (p.Thr1001Ala) c.1960A>G (p.Thr654Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031604T>G | CA399985981 | KANSL1 | c.3190A>C (p.Thr1064Pro) c.3187A>C (p.Thr1063Pro) c.2998A>C (p.Thr1000Pro) c.3058A>C (p.Thr1020Pro) n.7407A>C n.963A>C n.1162A>C c.3088A>C (p.Thr1030Pro) c.3001A>C (p.Thr1001Pro) c.1960A>C (p.Thr654Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46031604T= | CA2262110759 | KANSL1 | c.3190A= (p.Thr1064=) c.3187A= (p.Thr1063=) c.2998A= (p.Thr1000=) c.3058A= (p.Thr1020=) n.7407A= n.963A= n.1162A= c.3088A= (p.Thr1030=) c.3001A= (p.Thr1001=) c.1960A= (p.Thr654=) | |
17 | g.46031605G>A | CA500371680 | KANSL1 | c.3189C>T (p.Cys1063=) c.3186C>T (p.Cys1062=) c.2997C>T (p.Cys999=) c.3057C>T (p.Cys1019=) n.7406C>T n.962C>T n.1161C>T c.3087C>T (p.Cys1029=) c.3000C>T (p.Cys1000=) c.1959C>T (p.Cys653=) | dbSNP |
17 | g.46031605G>C | CA399985982 | KANSL1 | c.3189C>G (p.Cys1063Trp) c.3186C>G (p.Cys1062Trp) c.2997C>G (p.Cys999Trp) c.3057C>G (p.Cys1019Trp) n.7406C>G n.962C>G n.1161C>G c.3087C>G (p.Cys1029Trp) c.3000C>G (p.Cys1000Trp) c.1959C>G (p.Cys653Trp) | |
17 | g.46031605G= | CA2262110760 | KANSL1 | c.3189C= (p.Cys1063=) c.3186C= (p.Cys1062=) c.2997C= (p.Cys999=) c.3057C= (p.Cys1019=) n.7406C= n.962C= n.1161C= c.3087C= (p.Cys1029=) c.3000C= (p.Cys1000=) c.1959C= (p.Cys653=) | |
17 | g.46031605G>T | CA399985983 | KANSL1 | c.3189C>A (p.Cys1063Ter) c.3186C>A (p.Cys1062Ter) c.2997C>A (p.Cys999Ter) c.3057C>A (p.Cys1019Ter) n.7406C>A n.962C>A n.1161C>A c.3087C>A (p.Cys1029Ter) c.3000C>A (p.Cys1000Ter) c.1959C>A (p.Cys653Ter) | |
17 | g.46031606C>A | CA399985984 | KANSL1 | c.3188G>T (p.Cys1063Phe) c.3185G>T (p.Cys1062Phe) c.2996G>T (p.Cys999Phe) c.3056G>T (p.Cys1019Phe) n.7405G>T n.961G>T n.1160G>T c.3086G>T (p.Cys1029Phe) c.2999G>T (p.Cys1000Phe) c.1958G>T (p.Cys653Phe) | |
17 | g.46031606C>G | CA399985986 | KANSL1 | c.3188G>C (p.Cys1063Ser) c.3185G>C (p.Cys1062Ser) c.2996G>C (p.Cys999Ser) c.3056G>C (p.Cys1019Ser) n.7405G>C n.961G>C n.1160G>C c.3086G>C (p.Cys1029Ser) c.2999G>C (p.Cys1000Ser) c.1958G>C (p.Cys653Ser) | |
17 | g.46031606C>T | CA399985985 | KANSL1 | c.3188G>A (p.Cys1063Tyr) c.3185G>A (p.Cys1062Tyr) c.2996G>A (p.Cys999Tyr) c.3056G>A (p.Cys1019Tyr) n.7405G>A n.961G>A n.1160G>A c.3086G>A (p.Cys1029Tyr) c.2999G>A (p.Cys1000Tyr) c.1958G>A (p.Cys653Tyr) | |
17 | g.46031607A>C | CA399985987 | KANSL1 | c.3187T>G (p.Cys1063Gly) c.3184T>G (p.Cys1062Gly) c.2995T>G (p.Cys999Gly) c.3055T>G (p.Cys1019Gly) n.7404T>G n.960T>G n.1159T>G c.3085T>G (p.Cys1029Gly) c.2998T>G (p.Cys1000Gly) c.1957T>G (p.Cys653Gly) | |
17 | g.46031607A>G | CA399985988 | KANSL1 | c.3187T>C (p.Cys1063Arg) c.3184T>C (p.Cys1062Arg) c.2995T>C (p.Cys999Arg) c.3055T>C (p.Cys1019Arg) n.7404T>C n.960T>C n.1159T>C c.3085T>C (p.Cys1029Arg) c.2998T>C (p.Cys1000Arg) c.1957T>C (p.Cys653Arg) | gnomAD v4 |
17 | g.46031607A>T | CA399985989 | KANSL1 | c.3187T>A (p.Cys1063Ser) c.3184T>A (p.Cys1062Ser) c.2995T>A (p.Cys999Ser) c.3055T>A (p.Cys1019Ser) n.7404T>A n.960T>A n.1159T>A c.3085T>A (p.Cys1029Ser) c.2998T>A (p.Cys1000Ser) c.1957T>A (p.Cys653Ser) | |
17 | g.46031608G>A | CA500371682 | KANSL1 | c.3186C>T (p.Arg1062=) c.3183C>T (p.Arg1061=) c.2994C>T (p.Arg998=) c.3054C>T (p.Arg1018=) n.7403C>T n.959C>T n.1158C>T c.3084C>T (p.Arg1028=) c.2997C>T (p.Arg999=) c.1956C>T (p.Arg652=) | |
17 | g.46031608G>C | CA500371681 | KANSL1 | c.3186C>G (p.Arg1062=) c.3183C>G (p.Arg1061=) c.2994C>G (p.Arg998=) c.3054C>G (p.Arg1018=) n.7403C>G n.959C>G n.1158C>G c.3084C>G (p.Arg1028=) c.2997C>G (p.Arg999=) c.1956C>G (p.Arg652=) | |
17 | g.46031608G= | CA2262110761 | KANSL1 | c.3186C= (p.Arg1062=) c.3183C= (p.Arg1061=) c.2994C= (p.Arg998=) c.3054C= (p.Arg1018=) n.7403C= n.959C= n.1158C= c.3084C= (p.Arg1028=) c.2997C= (p.Arg999=) c.1956C= (p.Arg652=) | |
17 | g.46031608G>T | CA8618349 | KANSL1 | c.3186C>A (p.Arg1062=) c.3183C>A (p.Arg1061=) c.2994C>A (p.Arg998=) c.3054C>A (p.Arg1018=) n.7403C>A n.959C>A n.1158C>A c.3084C>A (p.Arg1028=) c.2997C>A (p.Arg999=) c.1956C>A (p.Arg652=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031609C>A | CA399985990 | KANSL1 | c.3185G>T (p.Arg1062Leu) c.3182G>T (p.Arg1061Leu) c.2993G>T (p.Arg998Leu) c.3053G>T (p.Arg1018Leu) n.7402G>T n.958G>T n.1157G>T c.3083G>T (p.Arg1028Leu) c.2996G>T (p.Arg999Leu) c.1955G>T (p.Arg652Leu) | |
17 | g.46031609C= | CA2262110762 | KANSL1 | c.3185G= (p.Arg1062=) c.3182G= (p.Arg1061=) c.2993G= (p.Arg998=) c.3053G= (p.Arg1018=) n.7402G= n.958G= n.1157G= c.3083G= (p.Arg1028=) c.2996G= (p.Arg999=) c.1955G= (p.Arg652=) | |
17 | g.46031609C>G | CA399985991 | KANSL1 | c.3185G>C (p.Arg1062Pro) c.3182G>C (p.Arg1061Pro) c.2993G>C (p.Arg998Pro) c.3053G>C (p.Arg1018Pro) n.7402G>C n.958G>C n.1157G>C c.3083G>C (p.Arg1028Pro) c.2996G>C (p.Arg999Pro) c.1955G>C (p.Arg652Pro) | |
17 | g.46031609C>T | CA8618350 | KANSL1 | c.3185G>A (p.Arg1062His) c.3182G>A (p.Arg1061His) c.2993G>A (p.Arg998His) c.3053G>A (p.Arg1018His) n.7402G>A n.958G>A n.1157G>A c.3083G>A (p.Arg1028His) c.2996G>A (p.Arg999His) c.1955G>A (p.Arg652His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031610G>A | CA399985992 | KANSL1 | c.3184C>T (p.Arg1062Cys) c.3181C>T (p.Arg1061Cys) c.2992C>T (p.Arg998Cys) c.3052C>T (p.Arg1018Cys) n.7401C>T n.957C>T n.1156C>T c.3082C>T (p.Arg1028Cys) c.2995C>T (p.Arg999Cys) c.1954C>T (p.Arg652Cys) | ClinVar dbSNP gnomAD v4 |
17 | g.46031610G>C | CA399985993 | KANSL1 | c.3184C>G (p.Arg1062Gly) c.3181C>G (p.Arg1061Gly) c.2992C>G (p.Arg998Gly) c.3052C>G (p.Arg1018Gly) n.7401C>G n.957C>G n.1156C>G c.3082C>G (p.Arg1028Gly) c.2995C>G (p.Arg999Gly) c.1954C>G (p.Arg652Gly) | |
17 | g.46031610G= | CA2262110763 | KANSL1 | c.3184C= (p.Arg1062=) c.3181C= (p.Arg1061=) c.2992C= (p.Arg998=) c.3052C= (p.Arg1018=) n.7401C= n.957C= n.1156C= c.3082C= (p.Arg1028=) c.2995C= (p.Arg999=) c.1954C= (p.Arg652=) | |
17 | g.46031610G>T | CA399985994 | KANSL1 | c.3184C>A (p.Arg1062Ser) c.3181C>A (p.Arg1061Ser) c.2992C>A (p.Arg998Ser) c.3052C>A (p.Arg1018Ser) n.7401C>A n.957C>A n.1156C>A c.3082C>A (p.Arg1028Ser) c.2995C>A (p.Arg999Ser) c.1954C>A (p.Arg652Ser) | |
17 | g.46031611G>A | CA500371685 | KANSL1 | c.3183C>T (p.Ala1061=) c.3180C>T (p.Ala1060=) c.2991C>T (p.Ala997=) c.3051C>T (p.Ala1017=) n.7400C>T n.956C>T n.1155C>T c.3081C>T (p.Ala1027=) c.2994C>T (p.Ala998=) c.1953C>T (p.Ala651=) | |
17 | g.46031611G>C | CA500371683 | KANSL1 | c.3183C>G (p.Ala1061=) c.3180C>G (p.Ala1060=) c.2991C>G (p.Ala997=) c.3051C>G (p.Ala1017=) n.7400C>G n.956C>G n.1155C>G c.3081C>G (p.Ala1027=) c.2994C>G (p.Ala998=) c.1953C>G (p.Ala651=) | gnomAD v4 |
17 | g.46031611G>T | CA500371684 | KANSL1 | c.3183C>A (p.Ala1061=) c.3180C>A (p.Ala1060=) c.2991C>A (p.Ala997=) c.3051C>A (p.Ala1017=) n.7400C>A n.956C>A n.1155C>A c.3081C>A (p.Ala1027=) c.2994C>A (p.Ala998=) c.1953C>A (p.Ala651=) | |
17 | g.46031612G>A | CA399985997 | KANSL1 | c.3182C>T (p.Ala1061Val) c.3179C>T (p.Ala1060Val) c.2990C>T (p.Ala997Val) c.3050C>T (p.Ala1017Val) n.7399C>T n.955C>T n.1154C>T c.3080C>T (p.Ala1027Val) c.2993C>T (p.Ala998Val) c.1952C>T (p.Ala651Val) | gnomAD v4 |
17 | g.46031612G>C | CA399985996 | KANSL1 | c.3182C>G (p.Ala1061Gly) c.3179C>G (p.Ala1060Gly) c.2990C>G (p.Ala997Gly) c.3050C>G (p.Ala1017Gly) n.7399C>G n.955C>G n.1154C>G c.3080C>G (p.Ala1027Gly) c.2993C>G (p.Ala998Gly) c.1952C>G (p.Ala651Gly) | |
17 | g.46031612G>T | CA399985995 | KANSL1 | c.3182C>A (p.Ala1061Asp) c.3179C>A (p.Ala1060Asp) c.2990C>A (p.Ala997Asp) c.3050C>A (p.Ala1017Asp) n.7399C>A n.955C>A n.1154C>A c.3080C>A (p.Ala1027Asp) c.2993C>A (p.Ala998Asp) c.1952C>A (p.Ala651Asp) | |
17 | g.46031613C>A | CA399985998 | KANSL1 | c.3181G>T (p.Ala1061Ser) c.3178G>T (p.Ala1060Ser) c.2989G>T (p.Ala997Ser) c.3049G>T (p.Ala1017Ser) n.7398G>T n.954G>T n.1153G>T c.3079G>T (p.Ala1027Ser) c.2992G>T (p.Ala998Ser) c.1951G>T (p.Ala651Ser) | |
17 | g.46031613C= | CA2262110764 | KANSL1 | c.3181G= (p.Ala1061=) c.3178G= (p.Ala1060=) c.2989G= (p.Ala997=) c.3049G= (p.Ala1017=) n.7398G= n.954G= n.1153G= c.3079G= (p.Ala1027=) c.2992G= (p.Ala998=) c.1951G= (p.Ala651=) | |
17 | g.46031613C>G | CA399985999 | KANSL1 | c.3181G>C (p.Ala1061Pro) c.3178G>C (p.Ala1060Pro) c.2989G>C (p.Ala997Pro) c.3049G>C (p.Ala1017Pro) n.7398G>C n.954G>C n.1153G>C c.3079G>C (p.Ala1027Pro) c.2992G>C (p.Ala998Pro) c.1951G>C (p.Ala651Pro) | |
17 | g.46031613C>T | CA8618351 | KANSL1 | c.3181G>A (p.Ala1061Thr) c.3178G>A (p.Ala1060Thr) c.2989G>A (p.Ala997Thr) c.3049G>A (p.Ala1017Thr) n.7398G>A n.954G>A n.1153G>A c.3079G>A (p.Ala1027Thr) c.2992G>A (p.Ala998Thr) c.1951G>A (p.Ala651Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031614T>A | CA500371688 | KANSL1 | c.3180A>T (p.Ala1060=) c.3177A>T (p.Ala1059=) c.2988A>T (p.Ala996=) c.3048A>T (p.Ala1016=) n.7397A>T n.953A>T n.1152A>T c.3078A>T (p.Ala1026=) c.2991A>T (p.Ala997=) c.1950A>T (p.Ala650=) | |
17 | g.46031614T>C | CA500371687 | KANSL1 | c.3180A>G (p.Ala1060=) c.3177A>G (p.Ala1059=) c.2988A>G (p.Ala996=) c.3048A>G (p.Ala1016=) n.7397A>G n.953A>G n.1152A>G c.3078A>G (p.Ala1026=) c.2991A>G (p.Ala997=) c.1950A>G (p.Ala650=) | gnomAD v4 |
17 | g.46031614T>G | CA500371686 | KANSL1 | c.3180A>C (p.Ala1060=) c.3177A>C (p.Ala1059=) c.2988A>C (p.Ala996=) c.3048A>C (p.Ala1016=) n.7397A>C n.953A>C n.1152A>C c.3078A>C (p.Ala1026=) c.2991A>C (p.Ala997=) c.1950A>C (p.Ala650=) | |
17 | g.46031615G>A | CA399986000 | KANSL1 | c.3179C>T (p.Ala1060Val) c.3176C>T (p.Ala1059Val) c.2987C>T (p.Ala996Val) c.3047C>T (p.Ala1016Val) n.7396C>T n.952C>T n.1151C>T c.3077C>T (p.Ala1026Val) c.2990C>T (p.Ala997Val) c.1949C>T (p.Ala650Val) | |
17 | g.46031615G>C | CA399986001 | KANSL1 | c.3179C>G (p.Ala1060Gly) c.3176C>G (p.Ala1059Gly) c.2987C>G (p.Ala996Gly) c.3047C>G (p.Ala1016Gly) n.7396C>G n.952C>G n.1151C>G c.3077C>G (p.Ala1026Gly) c.2990C>G (p.Ala997Gly) c.1949C>G (p.Ala650Gly) | |
17 | g.46031615G>T | CA399986002 | KANSL1 | c.3179C>A (p.Ala1060Glu) c.3176C>A (p.Ala1059Glu) c.2987C>A (p.Ala996Glu) c.3047C>A (p.Ala1016Glu) n.7396C>A n.952C>A n.1151C>A c.3077C>A (p.Ala1026Glu) c.2990C>A (p.Ala997Glu) c.1949C>A (p.Ala650Glu) | |
17 | g.46031616C>A | CA399986003 | KANSL1 | c.3178G>T (p.Ala1060Ser) c.3175G>T (p.Ala1059Ser) c.2986G>T (p.Ala996Ser) c.3046G>T (p.Ala1016Ser) n.7395G>T n.951G>T n.1150G>T c.3076G>T (p.Ala1026Ser) c.2989G>T (p.Ala997Ser) c.1948G>T (p.Ala650Ser) | |
17 | g.46031616C>G | CA399986004 | KANSL1 | c.3178G>C (p.Ala1060Pro) c.3175G>C (p.Ala1059Pro) c.2986G>C (p.Ala996Pro) c.3046G>C (p.Ala1016Pro) n.7395G>C n.951G>C n.1150G>C c.3076G>C (p.Ala1026Pro) c.2989G>C (p.Ala997Pro) c.1948G>C (p.Ala650Pro) | |
17 | g.46031616C>T | CA399986005 | KANSL1 | c.3178G>A (p.Ala1060Thr) c.3175G>A (p.Ala1059Thr) c.2986G>A (p.Ala996Thr) c.3046G>A (p.Ala1016Thr) n.7395G>A n.951G>A n.1150G>A c.3076G>A (p.Ala1026Thr) c.2989G>A (p.Ala997Thr) c.1948G>A (p.Ala650Thr) | |
17 | g.46031617T>A | CA500371689 | KANSL1 | c.3177A>T (p.Arg1059=) c.3174A>T (p.Arg1058=) c.2985A>T (p.Arg995=) c.3045A>T (p.Arg1015=) n.7394A>T n.950A>T n.1149A>T c.3075A>T (p.Arg1025=) c.2988A>T (p.Arg996=) c.1947A>T (p.Arg649=) | |
17 | g.46031617T>C | CA8618352 | KANSL1 | c.3177A>G (p.Arg1059=) c.3174A>G (p.Arg1058=) c.2985A>G (p.Arg995=) c.3045A>G (p.Arg1015=) n.7394A>G n.950A>G n.1149A>G c.3075A>G (p.Arg1025=) c.2988A>G (p.Arg996=) c.1947A>G (p.Arg649=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031617T>G | CA500371690 | KANSL1 | c.3177A>C (p.Arg1059=) c.3174A>C (p.Arg1058=) c.2985A>C (p.Arg995=) c.3045A>C (p.Arg1015=) n.7394A>C n.950A>C n.1149A>C c.3075A>C (p.Arg1025=) c.2988A>C (p.Arg996=) c.1947A>C (p.Arg649=) | gnomAD v4 |
17 | g.46031617T= | CA2262110765 | KANSL1 | c.3177A= (p.Arg1059=) c.3174A= (p.Arg1058=) c.2985A= (p.Arg995=) c.3045A= (p.Arg1015=) n.7394A= n.950A= n.1149A= c.3075A= (p.Arg1025=) c.2988A= (p.Arg996=) c.1947A= (p.Arg649=) | |
17 | g.46031618C>A | CA399986006 | KANSL1 | c.3176G>T (p.Arg1059Leu) c.3173G>T (p.Arg1058Leu) c.2984G>T (p.Arg995Leu) c.3044G>T (p.Arg1015Leu) n.7393G>T n.949G>T n.1148G>T c.3074G>T (p.Arg1025Leu) c.2987G>T (p.Arg996Leu) c.1946G>T (p.Arg649Leu) | |
17 | g.46031618C= | CA2262110766 | KANSL1 | c.3176G= (p.Arg1059=) c.3173G= (p.Arg1058=) c.2984G= (p.Arg995=) c.3044G= (p.Arg1015=) n.7393G= n.949G= n.1148G= c.3074G= (p.Arg1025=) c.2987G= (p.Arg996=) c.1946G= (p.Arg649=) | |
17 | g.46031618C>G | CA399986007 | KANSL1 | c.3176G>C (p.Arg1059Pro) c.3173G>C (p.Arg1058Pro) c.2984G>C (p.Arg995Pro) c.3044G>C (p.Arg1015Pro) n.7393G>C n.949G>C n.1148G>C c.3074G>C (p.Arg1025Pro) c.2987G>C (p.Arg996Pro) c.1946G>C (p.Arg649Pro) | |
17 | g.46031618C>T | CA8618353 | KANSL1 | c.3176G>A (p.Arg1059Gln) c.3173G>A (p.Arg1058Gln) c.2984G>A (p.Arg995Gln) c.3044G>A (p.Arg1015Gln) n.7393G>A n.949G>A n.1148G>A c.3074G>A (p.Arg1025Gln) c.2987G>A (p.Arg996Gln) c.1946G>A (p.Arg649Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031619G>A | CA399986009 | KANSL1 | c.3175C>T (p.Arg1059Ter) c.3172C>T (p.Arg1058Ter) c.2983C>T (p.Arg995Ter) c.3043C>T (p.Arg1015Ter) n.7392C>T n.948C>T n.1147C>T c.3073C>T (p.Arg1025Ter) c.2986C>T (p.Arg996Ter) c.1945C>T (p.Arg649Ter) | dbSNP COSMIC |
17 | g.46031619G>C | CA399986008 | KANSL1 | c.3175C>G (p.Arg1059Gly) c.3172C>G (p.Arg1058Gly) c.2983C>G (p.Arg995Gly) c.3043C>G (p.Arg1015Gly) n.7392C>G n.948C>G n.1147C>G c.3073C>G (p.Arg1025Gly) c.2986C>G (p.Arg996Gly) c.1945C>G (p.Arg649Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.46031619G= | CA2262110767 | KANSL1 | c.3175C= (p.Arg1059=) c.3172C= (p.Arg1058=) c.2983C= (p.Arg995=) c.3043C= (p.Arg1015=) n.7392C= n.948C= n.1147C= c.3073C= (p.Arg1025=) c.2986C= (p.Arg996=) c.1945C= (p.Arg649=) | |
17 | g.46031619G>T | CA500371691 | KANSL1 | c.3175C>A (p.Arg1059=) c.3172C>A (p.Arg1058=) c.2983C>A (p.Arg995=) c.3043C>A (p.Arg1015=) n.7392C>A n.948C>A n.1147C>A c.3073C>A (p.Arg1025=) c.2986C>A (p.Arg996=) c.1945C>A (p.Arg649=) | |
17 | g.46031620C>A | CA399986010 | KANSL1 | c.3174G>T (p.Glu1058Asp) c.3171G>T (p.Glu1057Asp) c.2982G>T (p.Glu994Asp) c.3042G>T (p.Glu1014Asp) n.7391G>T n.947G>T n.1146G>T c.3072G>T (p.Glu1024Asp) c.2985G>T (p.Glu995Asp) c.1944G>T (p.Glu648Asp) | |
17 | g.46031620C>G | CA399986011 | KANSL1 | c.3174G>C (p.Glu1058Asp) c.3171G>C (p.Glu1057Asp) c.2982G>C (p.Glu994Asp) c.3042G>C (p.Glu1014Asp) n.7391G>C n.947G>C n.1146G>C c.3072G>C (p.Glu1024Asp) c.2985G>C (p.Glu995Asp) c.1944G>C (p.Glu648Asp) | |
17 | g.46031620C>T | CA500371692 | KANSL1 | c.3174G>A (p.Glu1058=) c.3171G>A (p.Glu1057=) c.2982G>A (p.Glu994=) c.3042G>A (p.Glu1014=) n.7391G>A n.947G>A n.1146G>A c.3072G>A (p.Glu1024=) c.2985G>A (p.Glu995=) c.1944G>A (p.Glu648=) | gnomAD v4 |
17 | g.46031621T>A | CA399986012 | KANSL1 | c.3173A>T (p.Glu1058Val) c.3170A>T (p.Glu1057Val) c.2981A>T (p.Glu994Val) c.3041A>T (p.Glu1014Val) n.7390A>T n.946A>T n.1145A>T c.3071A>T (p.Glu1024Val) c.2984A>T (p.Glu995Val) c.1943A>T (p.Glu648Val) | |
17 | g.46031621T>C | CA399986013 | KANSL1 | c.3173A>G (p.Glu1058Gly) c.3170A>G (p.Glu1057Gly) c.2981A>G (p.Glu994Gly) c.3041A>G (p.Glu1014Gly) n.7390A>G n.946A>G n.1145A>G c.3071A>G (p.Glu1024Gly) c.2984A>G (p.Glu995Gly) c.1943A>G (p.Glu648Gly) | |
17 | g.46031621T>G | CA399986014 | KANSL1 | c.3173A>C (p.Glu1058Ala) c.3170A>C (p.Glu1057Ala) c.2981A>C (p.Glu994Ala) c.3041A>C (p.Glu1014Ala) n.7390A>C n.946A>C n.1145A>C c.3071A>C (p.Glu1024Ala) c.2984A>C (p.Glu995Ala) c.1943A>C (p.Glu648Ala) | |
17 | g.46031622C>A | CA399986015 | KANSL1 | c.3172G>T (p.Glu1058Ter) c.3169G>T (p.Glu1057Ter) c.2980G>T (p.Glu994Ter) c.3040G>T (p.Glu1014Ter) n.7389G>T n.945G>T n.1144G>T c.3070G>T (p.Glu1024Ter) c.2983G>T (p.Glu995Ter) c.1942G>T (p.Glu648Ter) | ClinVar |
17 | g.46031622C>G | CA399986016 | KANSL1 | c.3172G>C (p.Glu1058Gln) c.3169G>C (p.Glu1057Gln) c.2980G>C (p.Glu994Gln) c.3040G>C (p.Glu1014Gln) n.7389G>C n.945G>C n.1144G>C c.3070G>C (p.Glu1024Gln) c.2983G>C (p.Glu995Gln) c.1942G>C (p.Glu648Gln) | |
17 | g.46031622C>T | CA399986017 | KANSL1 | c.3172G>A (p.Glu1058Lys) c.3169G>A (p.Glu1057Lys) c.2980G>A (p.Glu994Lys) c.3040G>A (p.Glu1014Lys) n.7389G>A n.945G>A n.1144G>A c.3070G>A (p.Glu1024Lys) c.2983G>A (p.Glu995Lys) c.1942G>A (p.Glu648Lys) | |
17 | g.46031623C>A | CA399986018 | KANSL1 | c.3171G>T (p.Gln1057His) c.3168G>T (p.Gln1056His) c.2979G>T (p.Gln993His) c.3039G>T (p.Gln1013His) n.7388G>T n.944G>T n.1143G>T c.3069G>T (p.Gln1023His) c.2982G>T (p.Gln994His) c.1941G>T (p.Gln647His) | |
17 | g.46031623C>G | CA399986019 | KANSL1 | c.3171G>C (p.Gln1057His) c.3168G>C (p.Gln1056His) c.2979G>C (p.Gln993His) c.3039G>C (p.Gln1013His) n.7388G>C n.944G>C n.1143G>C c.3069G>C (p.Gln1023His) c.2982G>C (p.Gln994His) c.1941G>C (p.Gln647His) | |
17 | g.46031623C>T | CA500371693 | KANSL1 | c.3171G>A (p.Gln1057=) c.3168G>A (p.Gln1056=) c.2979G>A (p.Gln993=) c.3039G>A (p.Gln1013=) n.7388G>A n.944G>A n.1143G>A c.3069G>A (p.Gln1023=) c.2982G>A (p.Gln994=) c.1941G>A (p.Gln647=) | gnomAD v4 |
17 | g.46031624T>A | CA399986020 | KANSL1 | c.3170A>T (p.Gln1057Leu) c.3167A>T (p.Gln1056Leu) c.2978A>T (p.Gln993Leu) c.3038A>T (p.Gln1013Leu) n.7387A>T n.943A>T n.1142A>T c.3068A>T (p.Gln1023Leu) c.2981A>T (p.Gln994Leu) c.1940A>T (p.Gln647Leu) | dbSNP gnomAD v2 |
17 | g.46031624T>C | CA315140 | KANSL1 | c.3170A>G (p.Gln1057Arg) c.3167A>G (p.Gln1056Arg) c.2978A>G (p.Gln993Arg) c.3038A>G (p.Gln1013Arg) n.7387A>G n.943A>G n.1142A>G c.3068A>G (p.Gln1023Arg) c.2981A>G (p.Gln994Arg) c.1940A>G (p.Gln647Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031624T>G | CA399986021 | KANSL1 | c.3170A>C (p.Gln1057Pro) c.3167A>C (p.Gln1056Pro) c.2978A>C (p.Gln993Pro) c.3038A>C (p.Gln1013Pro) n.7387A>C n.943A>C n.1142A>C c.3068A>C (p.Gln1023Pro) c.2981A>C (p.Gln994Pro) c.1940A>C (p.Gln647Pro) | |
17 | g.46031624T= | CA2262110768 | KANSL1 | c.3170A= (p.Gln1057=) c.3167A= (p.Gln1056=) c.2978A= (p.Gln993=) c.3038A= (p.Gln1013=) n.7387A= n.943A= n.1142A= c.3068A= (p.Gln1023=) c.2981A= (p.Gln994=) c.1940A= (p.Gln647=) | |
17 | g.46031625G>A | CA399986024 | KANSL1 | c.3169C>T (p.Gln1057Ter) c.3166C>T (p.Gln1056Ter) c.2977C>T (p.Gln993Ter) c.3037C>T (p.Gln1013Ter) n.7386C>T n.942C>T n.1141C>T c.3067C>T (p.Gln1023Ter) c.2980C>T (p.Gln994Ter) c.1939C>T (p.Gln647Ter) | |
17 | g.46031625G>C | CA399986023 | KANSL1 | c.3169C>G (p.Gln1057Glu) c.3166C>G (p.Gln1056Glu) c.2977C>G (p.Gln993Glu) c.3037C>G (p.Gln1013Glu) n.7386C>G n.942C>G n.1141C>G c.3067C>G (p.Gln1023Glu) c.2980C>G (p.Gln994Glu) c.1939C>G (p.Gln647Glu) | ClinVar |
17 | g.46031625G>T | CA399986022 | KANSL1 | c.3169C>A (p.Gln1057Lys) c.3166C>A (p.Gln1056Lys) c.2977C>A (p.Gln993Lys) c.3037C>A (p.Gln1013Lys) n.7386C>A n.942C>A n.1141C>A c.3067C>A (p.Gln1023Lys) c.2980C>A (p.Gln994Lys) c.1939C>A (p.Gln647Lys) | |
17 | g.46031626T>A | CA8618354 | KANSL1 | c.3168A>T (p.Ala1056=) c.3165A>T (p.Ala1055=) c.2976A>T (p.Ala992=) c.3036A>T (p.Ala1012=) n.7385A>T n.941A>T n.1140A>T c.3066A>T (p.Ala1022=) c.2979A>T (p.Ala993=) c.1938A>T (p.Ala646=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031626T>C | CA500371694 | KANSL1 | c.3168A>G (p.Ala1056=) c.3165A>G (p.Ala1055=) c.2976A>G (p.Ala992=) c.3036A>G (p.Ala1012=) n.7385A>G n.941A>G n.1140A>G c.3066A>G (p.Ala1022=) c.2979A>G (p.Ala993=) c.1938A>G (p.Ala646=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031626T>G | CA500371695 | KANSL1 | c.3168A>C (p.Ala1056=) c.3165A>C (p.Ala1055=) c.2976A>C (p.Ala992=) c.3036A>C (p.Ala1012=) n.7385A>C n.941A>C n.1140A>C c.3066A>C (p.Ala1022=) c.2979A>C (p.Ala993=) c.1938A>C (p.Ala646=) | |
17 | g.46031626T= | CA2262110769 | KANSL1 | c.3168A= (p.Ala1056=) c.3165A= (p.Ala1055=) c.2976A= (p.Ala992=) c.3036A= (p.Ala1012=) n.7385A= n.941A= n.1140A= c.3066A= (p.Ala1022=) c.2979A= (p.Ala993=) c.1938A= (p.Ala646=) | |
17 | g.46031627G>A | CA399986026 | KANSL1 | c.3167C>T (p.Ala1056Val) c.3164C>T (p.Ala1055Val) c.2975C>T (p.Ala992Val) c.3035C>T (p.Ala1012Val) n.7384C>T n.940C>T n.1139C>T c.3065C>T (p.Ala1022Val) c.2978C>T (p.Ala993Val) c.1937C>T (p.Ala646Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031627G>C | CA399986025 | KANSL1 | c.3167C>G (p.Ala1056Gly) c.3164C>G (p.Ala1055Gly) c.2975C>G (p.Ala992Gly) c.3035C>G (p.Ala1012Gly) n.7384C>G n.940C>G n.1139C>G c.3065C>G (p.Ala1022Gly) c.2978C>G (p.Ala993Gly) c.1937C>G (p.Ala646Gly) | |
17 | g.46031627G= | CA2262110770 | KANSL1 | c.3167C= (p.Ala1056=) c.3164C= (p.Ala1055=) c.2975C= (p.Ala992=) c.3035C= (p.Ala1012=) n.7384C= n.940C= n.1139C= c.3065C= (p.Ala1022=) c.2978C= (p.Ala993=) c.1937C= (p.Ala646=) | |
17 | g.46031627G>T | CA399986027 | KANSL1 | c.3167C>A (p.Ala1056Glu) c.3164C>A (p.Ala1055Glu) c.2975C>A (p.Ala992Glu) c.3035C>A (p.Ala1012Glu) n.7384C>A n.940C>A n.1139C>A c.3065C>A (p.Ala1022Glu) c.2978C>A (p.Ala993Glu) c.1937C>A (p.Ala646Glu) | |
17 | g.46031628C>A | CA399986028 | KANSL1 | c.3166G>T (p.Ala1056Ser) c.3163G>T (p.Ala1055Ser) c.2974G>T (p.Ala992Ser) c.3034G>T (p.Ala1012Ser) n.7383G>T n.939G>T n.1138G>T c.3064G>T (p.Ala1022Ser) c.2977G>T (p.Ala993Ser) c.1936G>T (p.Ala646Ser) | |
17 | g.46031628C>G | CA399986029 | KANSL1 | c.3166G>C (p.Ala1056Pro) c.3163G>C (p.Ala1055Pro) c.2974G>C (p.Ala992Pro) c.3034G>C (p.Ala1012Pro) n.7383G>C n.939G>C n.1138G>C c.3064G>C (p.Ala1022Pro) c.2977G>C (p.Ala993Pro) c.1936G>C (p.Ala646Pro) | |
17 | g.46031628C>T | CA399986030 | KANSL1 | c.3166G>A (p.Ala1056Thr) c.3163G>A (p.Ala1055Thr) c.2974G>A (p.Ala992Thr) c.3034G>A (p.Ala1012Thr) n.7383G>A n.939G>A n.1138G>A c.3064G>A (p.Ala1022Thr) c.2977G>A (p.Ala993Thr) c.1936G>A (p.Ala646Thr) | gnomAD v4 |
17 | g.46031629A>C | CA399986031 | KANSL1 | c.3165T>G (p.Asp1055Glu) c.3162T>G (p.Asp1054Glu) c.2973T>G (p.Asp991Glu) c.3033T>G (p.Asp1011Glu) n.7382T>G n.938T>G n.1137T>G c.3063T>G (p.Asp1021Glu) c.2976T>G (p.Asp992Glu) c.1935T>G (p.Asp645Glu) | gnomAD v4 |
17 | g.46031629A>G | CA500371696 | KANSL1 | c.3165T>C (p.Asp1055=) c.3162T>C (p.Asp1054=) c.2973T>C (p.Asp991=) c.3033T>C (p.Asp1011=) n.7382T>C n.938T>C n.1137T>C c.3063T>C (p.Asp1021=) c.2976T>C (p.Asp992=) c.1935T>C (p.Asp645=) | gnomAD v4 |
17 | g.46031629A>T | CA399986032 | KANSL1 | c.3165T>A (p.Asp1055Glu) c.3162T>A (p.Asp1054Glu) c.2973T>A (p.Asp991Glu) c.3033T>A (p.Asp1011Glu) n.7382T>A n.938T>A n.1137T>A c.3063T>A (p.Asp1021Glu) c.2976T>A (p.Asp992Glu) c.1935T>A (p.Asp645Glu) | |
17 | g.46031630T>A | CA399986033 | KANSL1 | c.3164A>T (p.Asp1055Val) c.3161A>T (p.Asp1054Val) c.2972A>T (p.Asp991Val) c.3032A>T (p.Asp1011Val) n.7381A>T n.937A>T n.1136A>T c.3062A>T (p.Asp1021Val) c.2975A>T (p.Asp992Val) c.1934A>T (p.Asp645Val) | |
17 | g.46031630T>C | CA399986034 | KANSL1 | c.3164A>G (p.Asp1055Gly) c.3161A>G (p.Asp1054Gly) c.2972A>G (p.Asp991Gly) c.3032A>G (p.Asp1011Gly) n.7381A>G n.937A>G n.1136A>G c.3062A>G (p.Asp1021Gly) c.2975A>G (p.Asp992Gly) c.1934A>G (p.Asp645Gly) | ClinVar |
17 | g.46031630T>G | CA399986035 | KANSL1 | c.3164A>C (p.Asp1055Ala) c.3161A>C (p.Asp1054Ala) c.2972A>C (p.Asp991Ala) c.3032A>C (p.Asp1011Ala) n.7381A>C n.937A>C n.1136A>C c.3062A>C (p.Asp1021Ala) c.2975A>C (p.Asp992Ala) c.1934A>C (p.Asp645Ala) | |
17 | g.46031631C>A | CA291125382 | KANSL1 | c.3163G>T (p.Asp1055Tyr) c.3160G>T (p.Asp1054Tyr) c.2971G>T (p.Asp991Tyr) c.3031G>T (p.Asp1011Tyr) n.7380G>T n.936G>T n.1135G>T c.3061G>T (p.Asp1021Tyr) c.2974G>T (p.Asp992Tyr) c.1933G>T (p.Asp645Tyr) | dbSNP |
17 | g.46031631C= | CA2262110771 | KANSL1 | c.3163G= (p.Asp1055=) c.3160G= (p.Asp1054=) c.2971G= (p.Asp991=) c.3031G= (p.Asp1011=) n.7380G= n.936G= n.1135G= c.3061G= (p.Asp1021=) c.2974G= (p.Asp992=) c.1933G= (p.Asp645=) | |
17 | g.46031631C>G | CA399986036 | KANSL1 | c.3163G>C (p.Asp1055His) c.3160G>C (p.Asp1054His) c.2971G>C (p.Asp991His) c.3031G>C (p.Asp1011His) n.7380G>C n.936G>C n.1135G>C c.3061G>C (p.Asp1021His) c.2974G>C (p.Asp992His) c.1933G>C (p.Asp645His) | |
17 | g.46031631C>T | CA399986037 | KANSL1 | c.3163G>A (p.Asp1055Asn) c.3160G>A (p.Asp1054Asn) c.2971G>A (p.Asp991Asn) c.3031G>A (p.Asp1011Asn) n.7380G>A n.936G>A n.1135G>A c.3061G>A (p.Asp1021Asn) c.2974G>A (p.Asp992Asn) c.1933G>A (p.Asp645Asn) | |
17 | g.46031632C>A | CA500371699 | KANSL1 | c.3162G>T (p.Leu1054=) c.3159G>T (p.Leu1053=) c.2970G>T (p.Leu990=) c.3030G>T (p.Leu1010=) n.7379G>T n.935G>T n.1134G>T c.3060G>T (p.Leu1020=) c.2973G>T (p.Leu991=) c.1932G>T (p.Leu644=) | ClinVar |
17 | g.46031632C>G | CA500371697 | KANSL1 | c.3162G>C (p.Leu1054=) c.3159G>C (p.Leu1053=) c.2970G>C (p.Leu990=) c.3030G>C (p.Leu1010=) n.7379G>C n.935G>C n.1134G>C c.3060G>C (p.Leu1020=) c.2973G>C (p.Leu991=) c.1932G>C (p.Leu644=) | |
17 | g.46031632C>T | CA500371698 | KANSL1 | c.3162G>A (p.Leu1054=) c.3159G>A (p.Leu1053=) c.2970G>A (p.Leu990=) c.3030G>A (p.Leu1010=) n.7379G>A n.935G>A n.1134G>A c.3060G>A (p.Leu1020=) c.2973G>A (p.Leu991=) c.1932G>A (p.Leu644=) | |
17 | g.46031633A>C | CA399986040 | KANSL1 | c.3161T>G (p.Leu1054Arg) c.3158T>G (p.Leu1053Arg) c.2969T>G (p.Leu990Arg) c.3029T>G (p.Leu1010Arg) n.7378T>G n.934T>G n.1133T>G c.3059T>G (p.Leu1020Arg) c.2972T>G (p.Leu991Arg) c.1931T>G (p.Leu644Arg) | |
17 | g.46031633A>G | CA399986039 | KANSL1 | c.3161T>C (p.Leu1054Pro) c.3158T>C (p.Leu1053Pro) c.2969T>C (p.Leu990Pro) c.3029T>C (p.Leu1010Pro) n.7378T>C n.934T>C n.1133T>C c.3059T>C (p.Leu1020Pro) c.2972T>C (p.Leu991Pro) c.1931T>C (p.Leu644Pro) | |
17 | g.46031633A>T | CA399986038 | KANSL1 | c.3161T>A (p.Leu1054Gln) c.3158T>A (p.Leu1053Gln) c.2969T>A (p.Leu990Gln) c.3029T>A (p.Leu1010Gln) n.7378T>A n.934T>A n.1133T>A c.3059T>A (p.Leu1020Gln) c.2972T>A (p.Leu991Gln) c.1931T>A (p.Leu644Gln) | |
17 | g.46031634G>A | CA500371700 | KANSL1 | c.3160C>T (p.Leu1054=) c.3157C>T (p.Leu1053=) c.2968C>T (p.Leu990=) c.3028C>T (p.Leu1010=) n.7377C>T n.933C>T n.1132C>T c.3058C>T (p.Leu1020=) c.2971C>T (p.Leu991=) c.1930C>T (p.Leu644=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031634G>C | CA399986041 | KANSL1 | c.3160C>G (p.Leu1054Val) c.3157C>G (p.Leu1053Val) c.2968C>G (p.Leu990Val) c.3028C>G (p.Leu1010Val) n.7377C>G n.933C>G n.1132C>G c.3058C>G (p.Leu1020Val) c.2971C>G (p.Leu991Val) c.1930C>G (p.Leu644Val) | |
17 | g.46031634G= | CA2262110772 | KANSL1 | c.3160C= (p.Leu1054=) c.3157C= (p.Leu1053=) c.2968C= (p.Leu990=) c.3028C= (p.Leu1010=) n.7377C= n.933C= n.1132C= c.3058C= (p.Leu1020=) c.2971C= (p.Leu991=) c.1930C= (p.Leu644=) | |
17 | g.46031634G>T | CA399986042 | KANSL1 | c.3160C>A (p.Leu1054Met) c.3157C>A (p.Leu1053Met) c.2968C>A (p.Leu990Met) c.3028C>A (p.Leu1010Met) n.7377C>A n.933C>A n.1132C>A c.3058C>A (p.Leu1020Met) c.2971C>A (p.Leu991Met) c.1930C>A (p.Leu644Met) | |
17 | g.46031635C>A | CA399986043 | KANSL1 | c.3159G>T (p.Gln1053His) c.3156G>T (p.Gln1052His) c.2967G>T (p.Gln989His) c.3027G>T (p.Gln1009His) n.7376G>T n.932G>T n.1131G>T c.3057G>T (p.Gln1019His) c.2970G>T (p.Gln990His) c.1929G>T (p.Gln643His) | |
17 | g.46031635C= | CA2262110773 | KANSL1 | c.3159G= (p.Gln1053=) c.3156G= (p.Gln1052=) c.2967G= (p.Gln989=) c.3027G= (p.Gln1009=) n.7376G= n.932G= n.1131G= c.3057G= (p.Gln1019=) c.2970G= (p.Gln990=) c.1929G= (p.Gln643=) | |
17 | g.46031635C>G | CA8618355 | KANSL1 | c.3159G>C (p.Gln1053His) c.3156G>C (p.Gln1052His) c.2967G>C (p.Gln989His) c.3027G>C (p.Gln1009His) n.7376G>C n.932G>C n.1131G>C c.3057G>C (p.Gln1019His) c.2970G>C (p.Gln990His) c.1929G>C (p.Gln643His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031635C>T | CA500371701 | KANSL1 | c.3159G>A (p.Gln1053=) c.3156G>A (p.Gln1052=) c.2967G>A (p.Gln989=) c.3027G>A (p.Gln1009=) n.7376G>A n.932G>A n.1131G>A c.3057G>A (p.Gln1019=) c.2970G>A (p.Gln990=) c.1929G>A (p.Gln643=) | |
17 | g.46031636T>A | CA399986044 | KANSL1 | c.3158A>T (p.Gln1053Leu) c.3155A>T (p.Gln1052Leu) c.2966A>T (p.Gln989Leu) c.3026A>T (p.Gln1009Leu) n.7375A>T n.931A>T n.1130A>T c.3056A>T (p.Gln1019Leu) c.2969A>T (p.Gln990Leu) c.1928A>T (p.Gln643Leu) | |
17 | g.46031636T>C | CA16607691 | KANSL1 | c.3158A>G (p.Gln1053Arg) c.3155A>G (p.Gln1052Arg) c.2966A>G (p.Gln989Arg) c.3026A>G (p.Gln1009Arg) n.7375A>G n.931A>G n.1130A>G c.3056A>G (p.Gln1019Arg) c.2969A>G (p.Gln990Arg) c.1928A>G (p.Gln643Arg) | ClinVar dbSNP |
17 | g.46031636T>G | CA399986045 | KANSL1 | c.3158A>C (p.Gln1053Pro) c.3155A>C (p.Gln1052Pro) c.2966A>C (p.Gln989Pro) c.3026A>C (p.Gln1009Pro) n.7375A>C n.931A>C n.1130A>C c.3056A>C (p.Gln1019Pro) c.2969A>C (p.Gln990Pro) c.1928A>C (p.Gln643Pro) | |
17 | g.46031636T= | CA2262110774 | KANSL1 | c.3158A= (p.Gln1053=) c.3155A= (p.Gln1052=) c.2966A= (p.Gln989=) c.3026A= (p.Gln1009=) n.7375A= n.931A= n.1130A= c.3056A= (p.Gln1019=) c.2969A= (p.Gln990=) c.1928A= (p.Gln643=) | |
17 | g.46031637G>A | CA399986046 | KANSL1 | c.3157C>T (p.Gln1053Ter) c.3154C>T (p.Gln1052Ter) c.2965C>T (p.Gln989Ter) c.3025C>T (p.Gln1009Ter) n.7374C>T n.930C>T n.1129C>T c.3055C>T (p.Gln1019Ter) c.2968C>T (p.Gln990Ter) c.1927C>T (p.Gln643Ter) | |
17 | g.46031637G>C | CA399986047 | KANSL1 | c.3157C>G (p.Gln1053Glu) c.3154C>G (p.Gln1052Glu) c.2965C>G (p.Gln989Glu) c.3025C>G (p.Gln1009Glu) n.7374C>G n.930C>G n.1129C>G c.3055C>G (p.Gln1019Glu) c.2968C>G (p.Gln990Glu) c.1927C>G (p.Gln643Glu) | |
17 | g.46031637G>T | CA399986048 | KANSL1 | c.3157C>A (p.Gln1053Lys) c.3154C>A (p.Gln1052Lys) c.2965C>A (p.Gln989Lys) c.3025C>A (p.Gln1009Lys) n.7374C>A n.930C>A n.1129C>A c.3055C>A (p.Gln1019Lys) c.2968C>A (p.Gln990Lys) c.1927C>A (p.Gln643Lys) | |
17 | g.46031638dup | CA2638370942 | KANSL1 | c.3157dup (p.Gln1053ProfsTer?) c.3154dup (p.Gln1052ProfsTer?) c.2965dup (p.Gln989ProfsTer?) c.3025dup (p.Gln1009ProfsTer?) n.7374dup n.930dup n.1129dup c.3055dup (p.Gln1019ProfsTer?) c.2968dup (p.Gln990ProfsTer?) c.1927dup (p.Gln643ProfsTer?) | gnomAD v4 |
17 | g.46031638G>A | CA500371702 | KANSL1 | c.3156C>T (p.Asp1052=) c.3153C>T (p.Asp1051=) c.2964C>T (p.Asp988=) c.3024C>T (p.Asp1008=) n.7373C>T n.929C>T n.1128C>T c.3054C>T (p.Asp1018=) c.2967C>T (p.Asp989=) c.1926C>T (p.Asp642=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031638G>C | CA399986049 | KANSL1 | c.3156C>G (p.Asp1052Glu) c.3153C>G (p.Asp1051Glu) c.2964C>G (p.Asp988Glu) c.3024C>G (p.Asp1008Glu) n.7373C>G n.929C>G n.1128C>G c.3054C>G (p.Asp1018Glu) c.2967C>G (p.Asp989Glu) c.1926C>G (p.Asp642Glu) | |
17 | g.46031638G= | CA2262110775 | KANSL1 | c.3156C= (p.Asp1052=) c.3153C= (p.Asp1051=) c.2964C= (p.Asp988=) c.3024C= (p.Asp1008=) n.7373C= n.929C= n.1128C= c.3054C= (p.Asp1018=) c.2967C= (p.Asp989=) c.1926C= (p.Asp642=) | |
17 | g.46031638G>T | CA399986050 | KANSL1 | c.3156C>A (p.Asp1052Glu) c.3153C>A (p.Asp1051Glu) c.2964C>A (p.Asp988Glu) c.3024C>A (p.Asp1008Glu) n.7373C>A n.929C>A n.1128C>A c.3054C>A (p.Asp1018Glu) c.2967C>A (p.Asp989Glu) c.1926C>A (p.Asp642Glu) | |
17 | g.46031639T>A | CA399986053 | KANSL1 | c.3155A>T (p.Asp1052Val) c.3152A>T (p.Asp1051Val) c.2963A>T (p.Asp988Val) c.3023A>T (p.Asp1008Val) n.7372A>T n.928A>T n.1127A>T c.3053A>T (p.Asp1018Val) c.2966A>T (p.Asp989Val) c.1925A>T (p.Asp642Val) | ClinVar |
17 | g.46031639T>C | CA399986052 | KANSL1 | c.3155A>G (p.Asp1052Gly) c.3152A>G (p.Asp1051Gly) c.2963A>G (p.Asp988Gly) c.3023A>G (p.Asp1008Gly) n.7372A>G n.928A>G n.1127A>G c.3053A>G (p.Asp1018Gly) c.2966A>G (p.Asp989Gly) c.1925A>G (p.Asp642Gly) | |
17 | g.46031639T>G | CA399986051 | KANSL1 | c.3155A>C (p.Asp1052Ala) c.3152A>C (p.Asp1051Ala) c.2963A>C (p.Asp988Ala) c.3023A>C (p.Asp1008Ala) n.7372A>C n.928A>C n.1127A>C c.3053A>C (p.Asp1018Ala) c.2966A>C (p.Asp989Ala) c.1925A>C (p.Asp642Ala) | |
17 | g.46031640C>A | CA399986055 | KANSL1 | c.3154G>T (p.Asp1052Tyr) c.3151G>T (p.Asp1051Tyr) c.2962G>T (p.Asp988Tyr) c.3022G>T (p.Asp1008Tyr) n.7371G>T n.927G>T n.1126G>T c.3052G>T (p.Asp1018Tyr) c.2965G>T (p.Asp989Tyr) c.1924G>T (p.Asp642Tyr) | |
17 | g.46031640C= | CA2262110776 | KANSL1 | c.3154G= (p.Asp1052=) c.3151G= (p.Asp1051=) c.2962G= (p.Asp988=) c.3022G= (p.Asp1008=) n.7371G= n.927G= n.1126G= c.3052G= (p.Asp1018=) c.2965G= (p.Asp989=) c.1924G= (p.Asp642=) | |
17 | g.46031640C>G | CA399986054 | KANSL1 | c.3154G>C (p.Asp1052His) c.3151G>C (p.Asp1051His) c.2962G>C (p.Asp988His) c.3022G>C (p.Asp1008His) n.7371G>C n.927G>C n.1126G>C c.3052G>C (p.Asp1018His) c.2965G>C (p.Asp989His) c.1924G>C (p.Asp642His) | |
17 | g.46031640C>T | CA291125407 | KANSL1 | c.3154G>A (p.Asp1052Asn) c.3151G>A (p.Asp1051Asn) c.2962G>A (p.Asp988Asn) c.3022G>A (p.Asp1008Asn) n.7371G>A n.927G>A n.1126G>A c.3052G>A (p.Asp1018Asn) c.2965G>A (p.Asp989Asn) c.1924G>A (p.Asp642Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031641C>A | CA399986056 | KANSL1 | c.3153G>T (p.Glu1051Asp) c.3150G>T (p.Glu1050Asp) c.2961G>T (p.Glu987Asp) c.3021G>T (p.Glu1007Asp) n.7370G>T n.926G>T n.1125G>T c.3051G>T (p.Glu1017Asp) c.2964G>T (p.Glu988Asp) c.1923G>T (p.Glu641Asp) | |
17 | g.46031641C>G | CA399986057 | KANSL1 | c.3153G>C (p.Glu1051Asp) c.3150G>C (p.Glu1050Asp) c.2961G>C (p.Glu987Asp) c.3021G>C (p.Glu1007Asp) n.7370G>C n.926G>C n.1125G>C c.3051G>C (p.Glu1017Asp) c.2964G>C (p.Glu988Asp) c.1923G>C (p.Glu641Asp) | |
17 | g.46031641C>T | CA500371703 | KANSL1 | c.3153G>A (p.Glu1051=) c.3150G>A (p.Glu1050=) c.2961G>A (p.Glu987=) c.3021G>A (p.Glu1007=) n.7370G>A n.926G>A n.1125G>A c.3051G>A (p.Glu1017=) c.2964G>A (p.Glu988=) c.1923G>A (p.Glu641=) | |
17 | g.46031642T>A | CA399986058 | KANSL1 | c.3152A>T (p.Glu1051Val) c.3149A>T (p.Glu1050Val) c.2960A>T (p.Glu987Val) c.3020A>T (p.Glu1007Val) n.7369A>T n.925A>T n.1124A>T c.3050A>T (p.Glu1017Val) c.2963A>T (p.Glu988Val) c.1922A>T (p.Glu641Val) | |
17 | g.46031642T>C | CA399986059 | KANSL1 | c.3152A>G (p.Glu1051Gly) c.3149A>G (p.Glu1050Gly) c.2960A>G (p.Glu987Gly) c.3020A>G (p.Glu1007Gly) n.7369A>G n.925A>G n.1124A>G c.3050A>G (p.Glu1017Gly) c.2963A>G (p.Glu988Gly) c.1922A>G (p.Glu641Gly) | |
17 | g.46031642T>G | CA399986060 | KANSL1 | c.3152A>C (p.Glu1051Ala) c.3149A>C (p.Glu1050Ala) c.2960A>C (p.Glu987Ala) c.3020A>C (p.Glu1007Ala) n.7369A>C n.925A>C n.1124A>C c.3050A>C (p.Glu1017Ala) c.2963A>C (p.Glu988Ala) c.1922A>C (p.Glu641Ala) | |
17 | g.46031643C>A | CA399986061 | KANSL1 | c.3151G>T (p.Glu1051Ter) c.3148G>T (p.Glu1050Ter) c.2959G>T (p.Glu987Ter) c.3019G>T (p.Glu1007Ter) n.7368G>T n.924G>T n.1123G>T c.3049G>T (p.Glu1017Ter) c.2962G>T (p.Glu988Ter) c.1921G>T (p.Glu641Ter) | |
17 | g.46031643C>G | CA399986062 | KANSL1 | c.3151G>C (p.Glu1051Gln) c.3148G>C (p.Glu1050Gln) c.2959G>C (p.Glu987Gln) c.3019G>C (p.Glu1007Gln) n.7368G>C n.924G>C n.1123G>C c.3049G>C (p.Glu1017Gln) c.2962G>C (p.Glu988Gln) c.1921G>C (p.Glu641Gln) | gnomAD v4 |
17 | g.46031643C>T | CA399986063 | KANSL1 | c.3151G>A (p.Glu1051Lys) c.3148G>A (p.Glu1050Lys) c.2959G>A (p.Glu987Lys) c.3019G>A (p.Glu1007Lys) n.7368G>A n.924G>A n.1123G>A c.3049G>A (p.Glu1017Lys) c.2962G>A (p.Glu988Lys) c.1921G>A (p.Glu641Lys) | ClinVar |
17 | g.46031644A>C | CA399986064 | KANSL1 | c.3150T>G (p.Cys1050Trp) c.3147T>G (p.Cys1049Trp) c.2958T>G (p.Cys986Trp) c.3018T>G (p.Cys1006Trp) n.7367T>G n.923T>G n.1122T>G c.3048T>G (p.Cys1016Trp) c.2961T>G (p.Cys987Trp) c.1920T>G (p.Cys640Trp) | |
17 | g.46031644A>G | CA500371704 | KANSL1 | c.3150T>C (p.Cys1050=) c.3147T>C (p.Cys1049=) c.2958T>C (p.Cys986=) c.3018T>C (p.Cys1006=) n.7367T>C n.923T>C n.1122T>C c.3048T>C (p.Cys1016=) c.2961T>C (p.Cys987=) c.1920T>C (p.Cys640=) | |
17 | g.46031644A>T | CA399986065 | KANSL1 | c.3150T>A (p.Cys1050Ter) c.3147T>A (p.Cys1049Ter) c.2958T>A (p.Cys986Ter) c.3018T>A (p.Cys1006Ter) n.7367T>A n.923T>A n.1122T>A c.3048T>A (p.Cys1016Ter) c.2961T>A (p.Cys987Ter) c.1920T>A (p.Cys640Ter) | |
17 | g.46031645C>A | CA399986068 | KANSL1 | c.3149G>T (p.Cys1050Phe) c.3146G>T (p.Cys1049Phe) c.2957G>T (p.Cys986Phe) c.3017G>T (p.Cys1006Phe) n.7366G>T n.922G>T n.1121G>T c.3047G>T (p.Cys1016Phe) c.2960G>T (p.Cys987Phe) c.1919G>T (p.Cys640Phe) | |
17 | g.46031645C>G | CA399986066 | KANSL1 | c.3149G>C (p.Cys1050Ser) c.3146G>C (p.Cys1049Ser) c.2957G>C (p.Cys986Ser) c.3017G>C (p.Cys1006Ser) n.7366G>C n.922G>C n.1121G>C c.3047G>C (p.Cys1016Ser) c.2960G>C (p.Cys987Ser) c.1919G>C (p.Cys640Ser) | |
17 | g.46031645C>T | CA399986067 | KANSL1 | c.3149G>A (p.Cys1050Tyr) c.3146G>A (p.Cys1049Tyr) c.2957G>A (p.Cys986Tyr) c.3017G>A (p.Cys1006Tyr) n.7366G>A n.922G>A n.1121G>A c.3047G>A (p.Cys1016Tyr) c.2960G>A (p.Cys987Tyr) c.1919G>A (p.Cys640Tyr) | |
17 | g.46031646A= | CA2262110777 | KANSL1 | c.3148T= (p.Cys1050=) c.3145T= (p.Cys1049=) c.2956T= (p.Cys986=) c.3016T= (p.Cys1006=) n.7365T= n.921T= n.1120T= c.3046T= (p.Cys1016=) c.2959T= (p.Cys987=) c.1918T= (p.Cys640=) | |
17 | g.46031646A>C | CA399986069 | KANSL1 | c.3148T>G (p.Cys1050Gly) c.3145T>G (p.Cys1049Gly) c.2956T>G (p.Cys986Gly) c.3016T>G (p.Cys1006Gly) n.7365T>G n.921T>G n.1120T>G c.3046T>G (p.Cys1016Gly) c.2959T>G (p.Cys987Gly) c.1918T>G (p.Cys640Gly) | gnomAD v4 |
17 | g.46031646A>G | CA315138 | KANSL1 | c.3148T>C (p.Cys1050Arg) c.3145T>C (p.Cys1049Arg) c.2956T>C (p.Cys986Arg) c.3016T>C (p.Cys1006Arg) n.7365T>C n.921T>C n.1120T>C c.3046T>C (p.Cys1016Arg) c.2959T>C (p.Cys987Arg) c.1918T>C (p.Cys640Arg) | ClinVar dbSNP |
17 | g.46031646A>T | CA399986070 | KANSL1 | c.3148T>A (p.Cys1050Ser) c.3145T>A (p.Cys1049Ser) c.2956T>A (p.Cys986Ser) c.3016T>A (p.Cys1006Ser) n.7365T>A n.921T>A n.1120T>A c.3046T>A (p.Cys1016Ser) c.2959T>A (p.Cys987Ser) c.1918T>A (p.Cys640Ser) | |
17 | g.46031647C>A | CA8618356 | KANSL1 | c.3147G>T (p.Glu1049Asp) c.3144G>T (p.Glu1048Asp) c.2955G>T (p.Glu985Asp) c.3015G>T (p.Glu1005Asp) n.7364G>T n.920G>T n.1119G>T c.3045G>T (p.Glu1015Asp) c.2958G>T (p.Glu986Asp) c.1917G>T (p.Glu639Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031647C= | CA2262110778 | KANSL1 | c.3147G= (p.Glu1049=) c.3144G= (p.Glu1048=) c.2955G= (p.Glu985=) c.3015G= (p.Glu1005=) n.7364G= n.920G= n.1119G= c.3045G= (p.Glu1015=) c.2958G= (p.Glu986=) c.1917G= (p.Glu639=) | |
17 | g.46031647C>G | CA399986071 | KANSL1 | c.3147G>C (p.Glu1049Asp) c.3144G>C (p.Glu1048Asp) c.2955G>C (p.Glu985Asp) c.3015G>C (p.Glu1005Asp) n.7364G>C n.920G>C n.1119G>C c.3045G>C (p.Glu1015Asp) c.2958G>C (p.Glu986Asp) c.1917G>C (p.Glu639Asp) | |
17 | g.46031647C>T | CA500371705 | KANSL1 | c.3147G>A (p.Glu1049=) c.3144G>A (p.Glu1048=) c.2955G>A (p.Glu985=) c.3015G>A (p.Glu1005=) n.7364G>A n.920G>A n.1119G>A c.3045G>A (p.Glu1015=) c.2958G>A (p.Glu986=) c.1917G>A (p.Glu639=) | dbSNP |
17 | g.46031648_46031650dup | CA2576299128 | KANSL1 | c.3145_3147dup (p.Glu1049_Cys1050insGlu) c.3142_3144dup (p.Glu1048_Cys1049insGlu) c.2953_2955dup (p.Glu985_Cys986insGlu) c.3013_3015dup (p.Glu1005_Cys1006insGlu) n.7362_7364dup n.918_920dup n.1117_1119dup c.3043_3045dup (p.Glu1015_Cys1016insGlu) c.2956_2958dup (p.Glu986_Cys987insGlu) c.1915_1917dup (p.Glu639_Cys640insGlu) | |
17 | g.46031648T>A | CA399986072 | KANSL1 | c.3146A>T (p.Glu1049Val) c.3143A>T (p.Glu1048Val) c.2954A>T (p.Glu985Val) c.3014A>T (p.Glu1005Val) n.7363A>T n.919A>T n.1118A>T c.3044A>T (p.Glu1015Val) c.2957A>T (p.Glu986Val) c.1916A>T (p.Glu639Val) | ClinVar dbSNP |
17 | g.46031648T>C | CA315136 | KANSL1 | c.3146A>G (p.Glu1049Gly) c.3143A>G (p.Glu1048Gly) c.2954A>G (p.Glu985Gly) c.3014A>G (p.Glu1005Gly) n.7363A>G n.919A>G n.1118A>G c.3044A>G (p.Glu1015Gly) c.2957A>G (p.Glu986Gly) c.1916A>G (p.Glu639Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031648T>G | CA399986073 | KANSL1 | c.3146A>C (p.Glu1049Ala) c.3143A>C (p.Glu1048Ala) c.2954A>C (p.Glu985Ala) c.3014A>C (p.Glu1005Ala) n.7363A>C n.919A>C n.1118A>C c.3044A>C (p.Glu1015Ala) c.2957A>C (p.Glu986Ala) c.1916A>C (p.Glu639Ala) | |
17 | g.46031648T= | CA2262110779 | KANSL1 | c.3146A= (p.Glu1049=) c.3143A= (p.Glu1048=) c.2954A= (p.Glu985=) c.3014A= (p.Glu1005=) n.7363A= n.919A= n.1118A= c.3044A= (p.Glu1015=) c.2957A= (p.Glu986=) c.1916A= (p.Glu639=) | |
17 | g.46031649C>A | CA399986074 | KANSL1 | c.3145G>T (p.Glu1049Ter) c.3142G>T (p.Glu1048Ter) c.2953G>T (p.Glu985Ter) c.3013G>T (p.Glu1005Ter) n.7362G>T n.918G>T n.1117G>T c.3043G>T (p.Glu1015Ter) c.2956G>T (p.Glu986Ter) c.1915G>T (p.Glu639Ter) | |
17 | g.46031649C>G | CA399986075 | KANSL1 | c.3145G>C (p.Glu1049Gln) c.3142G>C (p.Glu1048Gln) c.2953G>C (p.Glu985Gln) c.3013G>C (p.Glu1005Gln) n.7362G>C n.918G>C n.1117G>C c.3043G>C (p.Glu1015Gln) c.2956G>C (p.Glu986Gln) c.1915G>C (p.Glu639Gln) | |
17 | g.46031649C>T | CA399986076 | KANSL1 | c.3145G>A (p.Glu1049Lys) c.3142G>A (p.Glu1048Lys) c.2953G>A (p.Glu985Lys) c.3013G>A (p.Glu1005Lys) n.7362G>A n.918G>A n.1117G>A c.3043G>A (p.Glu1015Lys) c.2956G>A (p.Glu986Lys) c.1915G>A (p.Glu639Lys) | |
17 | g.46031650C>A | CA500371707 | KANSL1 | c.3144G>T (p.Ala1048=) c.3141G>T (p.Ala1047=) c.2952G>T (p.Ala984=) c.3012G>T (p.Ala1004=) n.7361G>T n.917G>T n.1116G>T c.3042G>T (p.Ala1014=) c.2955G>T (p.Ala985=) c.1914G>T (p.Ala638=) | |
17 | g.46031650C= | CA2262110780 | KANSL1 | c.3144G= (p.Ala1048=) c.3141G= (p.Ala1047=) c.2952G= (p.Ala984=) c.3012G= (p.Ala1004=) n.7361G= n.917G= n.1116G= c.3042G= (p.Ala1014=) c.2955G= (p.Ala985=) c.1914G= (p.Ala638=) | |
17 | g.46031650C>G | CA500371706 | KANSL1 | c.3144G>C (p.Ala1048=) c.3141G>C (p.Ala1047=) c.2952G>C (p.Ala984=) c.3012G>C (p.Ala1004=) n.7361G>C n.917G>C n.1116G>C c.3042G>C (p.Ala1014=) c.2955G>C (p.Ala985=) c.1914G>C (p.Ala638=) | ClinVar dbSNP |
17 | g.46031650C>T | CA291125416 | KANSL1 | c.3144G>A (p.Ala1048=) c.3141G>A (p.Ala1047=) c.2952G>A (p.Ala984=) c.3012G>A (p.Ala1004=) n.7361G>A n.917G>A n.1116G>A c.3042G>A (p.Ala1014=) c.2955G>A (p.Ala985=) c.1914G>A (p.Ala638=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031651G>A | CA8618358 | KANSL1 | c.3143C>T (p.Ala1048Val) c.3140C>T (p.Ala1047Val) c.2951C>T (p.Ala984Val) c.3011C>T (p.Ala1004Val) n.7360C>T n.916C>T n.1115C>T c.3041C>T (p.Ala1014Val) c.2954C>T (p.Ala985Val) c.1913C>T (p.Ala638Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031651G>C | CA399986077 | KANSL1 | c.3143C>G (p.Ala1048Gly) c.3140C>G (p.Ala1047Gly) c.2951C>G (p.Ala984Gly) c.3011C>G (p.Ala1004Gly) n.7360C>G n.916C>G n.1115C>G c.3041C>G (p.Ala1014Gly) c.2954C>G (p.Ala985Gly) c.1913C>G (p.Ala638Gly) | |
17 | g.46031651G= | CA2262110781 | KANSL1 | c.3143C= (p.Ala1048=) c.3140C= (p.Ala1047=) c.2951C= (p.Ala984=) c.3011C= (p.Ala1004=) n.7360C= n.916C= n.1115C= c.3041C= (p.Ala1014=) c.2954C= (p.Ala985=) c.1913C= (p.Ala638=) | |
17 | g.46031651G>T | CA399986078 | KANSL1 | c.3143C>A (p.Ala1048Glu) c.3140C>A (p.Ala1047Glu) c.2951C>A (p.Ala984Glu) c.3011C>A (p.Ala1004Glu) n.7360C>A n.916C>A n.1115C>A c.3041C>A (p.Ala1014Glu) c.2954C>A (p.Ala985Glu) c.1913C>A (p.Ala638Glu) | |
17 | g.46031651_46031652insGTG | CA8618357 | KANSL1 | c.3143_3144insACC (p.Ala1048_Glu1049insPro) c.3140_3141insACC (p.Ala1047_Glu1048insPro) c.2951_2952insACC (p.Ala984_Glu985insPro) c.3011_3012insACC (p.Ala1004_Glu1005insPro) n.7360_7361insACC n.916_917insACC n.1115_1116insACC c.3041_3042insACC (p.Ala1014_Glu1015insPro) c.2954_2955insACC (p.Ala985_Glu986insPro) c.1913_1914insACC (p.Ala638_Glu639insPro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031652C>A | CA399986081 | KANSL1 | c.3142G>T (p.Ala1048Ser) c.3139G>T (p.Ala1047Ser) c.2950G>T (p.Ala984Ser) c.3010G>T (p.Ala1004Ser) n.7359G>T n.915G>T n.1114G>T c.3040G>T (p.Ala1014Ser) c.2953G>T (p.Ala985Ser) c.1912G>T (p.Ala638Ser) | |
17 | g.46031652C>G | CA399986079 | KANSL1 | c.3142G>C (p.Ala1048Pro) c.3139G>C (p.Ala1047Pro) c.2950G>C (p.Ala984Pro) c.3010G>C (p.Ala1004Pro) n.7359G>C n.915G>C n.1114G>C c.3040G>C (p.Ala1014Pro) c.2953G>C (p.Ala985Pro) c.1912G>C (p.Ala638Pro) | |
17 | g.46031652C>T | CA399986080 | KANSL1 | c.3142G>A (p.Ala1048Thr) c.3139G>A (p.Ala1047Thr) c.2950G>A (p.Ala984Thr) c.3010G>A (p.Ala1004Thr) n.7359G>A n.915G>A n.1114G>A c.3040G>A (p.Ala1014Thr) c.2953G>A (p.Ala985Thr) c.1912G>A (p.Ala638Thr) | gnomAD v4 |
17 | g.46031653C>A | CA399986082 | KANSL1 | c.3141G>T (p.Gln1047His) c.3138G>T (p.Gln1046His) c.2949G>T (p.Gln983His) c.3009G>T (p.Gln1003His) n.7358G>T n.914G>T n.1113G>T c.3039G>T (p.Gln1013His) c.2952G>T (p.Gln984His) c.1911G>T (p.Gln637His) | ClinVar |
17 | g.46031653C= | CA2262110782 | KANSL1 | c.3141G= (p.Gln1047=) c.3138G= (p.Gln1046=) c.2949G= (p.Gln983=) c.3009G= (p.Gln1003=) n.7358G= n.914G= n.1113G= c.3039G= (p.Gln1013=) c.2952G= (p.Gln984=) c.1911G= (p.Gln637=) | |
17 | g.46031653C>G | CA315134 | KANSL1 | c.3141G>C (p.Gln1047His) c.3138G>C (p.Gln1046His) c.2949G>C (p.Gln983His) c.3009G>C (p.Gln1003His) n.7358G>C n.914G>C n.1113G>C c.3039G>C (p.Gln1013His) c.2952G>C (p.Gln984His) c.1911G>C (p.Gln637His) | ClinVar dbSNP |
17 | g.46031653C>T | CA500371708 | KANSL1 | c.3141G>A (p.Gln1047=) c.3138G>A (p.Gln1046=) c.2949G>A (p.Gln983=) c.3009G>A (p.Gln1003=) n.7358G>A n.914G>A n.1113G>A c.3039G>A (p.Gln1013=) c.2952G>A (p.Gln984=) c.1911G>A (p.Gln637=) | |
17 | g.46031654T>A | CA399986083 | KANSL1 | c.3140A>T (p.Gln1047Leu) c.3137A>T (p.Gln1046Leu) c.2948A>T (p.Gln983Leu) n.557A>T c.3008A>T (p.Gln1003Leu) n.7357A>T n.913A>T n.1112A>T c.3038A>T (p.Gln1013Leu) c.2951A>T (p.Gln984Leu) c.1910A>T (p.Gln637Leu) | |
17 | g.46031654T>C | CA8618359 | KANSL1 | c.3140A>G (p.Gln1047Arg) c.3137A>G (p.Gln1046Arg) c.2948A>G (p.Gln983Arg) n.557A>G c.3008A>G (p.Gln1003Arg) n.7357A>G n.913A>G n.1112A>G c.3038A>G (p.Gln1013Arg) c.2951A>G (p.Gln984Arg) c.1910A>G (p.Gln637Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.46031654T>G | CA399986084 | KANSL1 | c.3140A>C (p.Gln1047Pro) c.3137A>C (p.Gln1046Pro) c.2948A>C (p.Gln983Pro) n.557A>C c.3008A>C (p.Gln1003Pro) n.7357A>C n.913A>C n.1112A>C c.3038A>C (p.Gln1013Pro) c.2951A>C (p.Gln984Pro) c.1910A>C (p.Gln637Pro) | |
17 | g.46031654T= | CA2262110783 | KANSL1 | c.3140A= (p.Gln1047=) c.3137A= (p.Gln1046=) c.2948A= (p.Gln983=) n.557A= c.3008A= (p.Gln1003=) n.7357A= n.913A= n.1112A= c.3038A= (p.Gln1013=) c.2951A= (p.Gln984=) c.1910A= (p.Gln637=) | |
17 | g.46031655G>A | CA399986085 | KANSL1 | c.3139C>T (p.Gln1047Ter) c.3136C>T (p.Gln1046Ter) c.2947C>T (p.Gln983Ter) n.556C>T c.3007C>T (p.Gln1003Ter) n.7356C>T n.912C>T n.1111C>T c.3037C>T (p.Gln1013Ter) c.2950C>T (p.Gln984Ter) c.1909C>T (p.Gln637Ter) | |
17 | g.46031655G>C | CA8618360 | KANSL1 | c.3139C>G (p.Gln1047Glu) c.3136C>G (p.Gln1046Glu) c.2947C>G (p.Gln983Glu) n.556C>G c.3007C>G (p.Gln1003Glu) n.7356C>G n.912C>G n.1111C>G c.3037C>G (p.Gln1013Glu) c.2950C>G (p.Gln984Glu) c.1909C>G (p.Gln637Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031655G= | CA2262110784 | KANSL1 | c.3139C= (p.Gln1047=) c.3136C= (p.Gln1046=) c.2947C= (p.Gln983=) n.556C= c.3007C= (p.Gln1003=) n.7356C= n.912C= n.1111C= c.3037C= (p.Gln1013=) c.2950C= (p.Gln984=) c.1909C= (p.Gln637=) | |
17 | g.46031655G>T | CA399986086 | KANSL1 | c.3139C>A (p.Gln1047Lys) c.3136C>A (p.Gln1046Lys) c.2947C>A (p.Gln983Lys) n.556C>A c.3007C>A (p.Gln1003Lys) n.7356C>A n.912C>A n.1111C>A c.3037C>A (p.Gln1013Lys) c.2950C>A (p.Gln984Lys) c.1909C>A (p.Gln637Lys) | gnomAD v4 |
17 | g.46031656G>A | CA500371710 | KANSL1 | c.3138C>T (p.Pro1046=) c.3135C>T (p.Pro1045=) c.2946C>T (p.Pro982=) n.555C>T c.3006C>T (p.Pro1002=) n.7355C>T n.911C>T n.1110C>T c.3036C>T (p.Pro1012=) c.2949C>T (p.Pro983=) c.1908C>T (p.Pro636=) | COSMIC |
17 | g.46031656G>C | CA8618361 | KANSL1 | c.3138C>G (p.Pro1046=) c.3135C>G (p.Pro1045=) c.2946C>G (p.Pro982=) n.555C>G c.3006C>G (p.Pro1002=) n.7355C>G n.911C>G n.1110C>G c.3036C>G (p.Pro1012=) c.2949C>G (p.Pro983=) c.1908C>G (p.Pro636=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46031656G= | CA2262110785 | KANSL1 | c.3138C= (p.Pro1046=) c.3135C= (p.Pro1045=) c.2946C= (p.Pro982=) n.555C= c.3006C= (p.Pro1002=) n.7355C= n.911C= n.1110C= c.3036C= (p.Pro1012=) c.2949C= (p.Pro983=) c.1908C= (p.Pro636=) | |
17 | g.46031656G>T | CA500371709 | KANSL1 | c.3138C>A (p.Pro1046=) c.3135C>A (p.Pro1045=) c.2946C>A (p.Pro982=) n.555C>A c.3006C>A (p.Pro1002=) n.7355C>A n.911C>A n.1110C>A c.3036C>A (p.Pro1012=) c.2949C>A (p.Pro983=) c.1908C>A (p.Pro636=) | |
17 | g.46031657G>A | CA399986089 | KANSL1 | c.3137C>T (p.Pro1046Leu) c.3134C>T (p.Pro1045Leu) c.2945C>T (p.Pro982Leu) n.554C>T c.3005C>T (p.Pro1002Leu) n.7354C>T n.910C>T n.1109C>T c.3035C>T (p.Pro1012Leu) c.2948C>T (p.Pro983Leu) c.1907C>T (p.Pro636Leu) | |
17 | g.46031657G>C | CA399986088 | KANSL1 | c.3137C>G (p.Pro1046Arg) c.3134C>G (p.Pro1045Arg) c.2945C>G (p.Pro982Arg) n.554C>G c.3005C>G (p.Pro1002Arg) n.7354C>G n.910C>G n.1109C>G c.3035C>G (p.Pro1012Arg) c.2948C>G (p.Pro983Arg) c.1907C>G (p.Pro636Arg) | |
17 | g.46031657G>T | CA399986087 | KANSL1 | c.3137C>A (p.Pro1046His) c.3134C>A (p.Pro1045His) c.2945C>A (p.Pro982His) n.554C>A c.3005C>A (p.Pro1002His) n.7354C>A n.910C>A n.1109C>A c.3035C>A (p.Pro1012His) c.2948C>A (p.Pro983His) c.1907C>A (p.Pro636His) | |
17 | g.46031658G>A | CA399986090 | KANSL1 | c.3136C>T (p.Pro1046Ser) c.3133C>T (p.Pro1045Ser) c.2944C>T (p.Pro982Ser) n.553C>T c.3004C>T (p.Pro1002Ser) n.7353C>T n.909C>T n.1108C>T c.3034C>T (p.Pro1012Ser) c.2947C>T (p.Pro983Ser) c.1906C>T (p.Pro636Ser) | |
17 | g.46031658G>C | CA399986091 | KANSL1 | c.3136C>G (p.Pro1046Ala) c.3133C>G (p.Pro1045Ala) c.2944C>G (p.Pro982Ala) n.553C>G c.3004C>G (p.Pro1002Ala) n.7353C>G n.909C>G n.1108C>G c.3034C>G (p.Pro1012Ala) c.2947C>G (p.Pro983Ala) c.1906C>G (p.Pro636Ala) | |
17 | g.46031658G= | CA2262110786 | KANSL1 | c.3136C= (p.Pro1046=) c.3133C= (p.Pro1045=) c.2944C= (p.Pro982=) n.553C= c.3004C= (p.Pro1002=) n.7353C= n.909C= n.1108C= c.3034C= (p.Pro1012=) c.2947C= (p.Pro983=) c.1906C= (p.Pro636=) | |
17 | g.46031658G>T | CA399986092 | KANSL1 | c.3136C>A (p.Pro1046Thr) c.3133C>A (p.Pro1045Thr) c.2944C>A (p.Pro982Thr) n.553C>A c.3004C>A (p.Pro1002Thr) n.7353C>A n.909C>A n.1108C>A c.3034C>A (p.Pro1012Thr) c.2947C>A (p.Pro983Thr) c.1906C>A (p.Pro636Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031659A= | CA2262110787 | KANSL1 | c.3135T= (p.Ser1045=) c.3132T= (p.Ser1044=) c.2943T= (p.Ser981=) n.552T= c.3003T= (p.Ser1001=) n.7352T= n.908T= n.1107T= c.3033T= (p.Ser1011=) c.2946T= (p.Ser982=) c.1905T= (p.Ser635=) | |
17 | g.46031659A>C | CA399986093 | KANSL1 | c.3135T>G (p.Ser1045Arg) c.3132T>G (p.Ser1044Arg) c.2943T>G (p.Ser981Arg) n.552T>G c.3003T>G (p.Ser1001Arg) n.7352T>G n.908T>G n.1107T>G c.3033T>G (p.Ser1011Arg) c.2946T>G (p.Ser982Arg) c.1905T>G (p.Ser635Arg) | |
17 | g.46031659A>G | CA500371711 | KANSL1 | c.3135T>C (p.Ser1045=) c.3132T>C (p.Ser1044=) c.2943T>C (p.Ser981=) n.552T>C c.3003T>C (p.Ser1001=) n.7352T>C n.908T>C n.1107T>C c.3033T>C (p.Ser1011=) c.2946T>C (p.Ser982=) c.1905T>C (p.Ser635=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031659A>T | CA399986094 | KANSL1 | c.3135T>A (p.Ser1045Arg) c.3132T>A (p.Ser1044Arg) c.2943T>A (p.Ser981Arg) n.552T>A c.3003T>A (p.Ser1001Arg) n.7352T>A n.908T>A n.1107T>A c.3033T>A (p.Ser1011Arg) c.2946T>A (p.Ser982Arg) c.1905T>A (p.Ser635Arg) | |
17 | g.46031660C>A | CA399986095 | KANSL1 | c.3134G>T (p.Ser1045Ile) c.3131G>T (p.Ser1044Ile) c.2942G>T (p.Ser981Ile) n.551G>T c.3002G>T (p.Ser1001Ile) n.7351G>T n.907G>T n.1106G>T c.3032G>T (p.Ser1011Ile) c.2945G>T (p.Ser982Ile) c.1904G>T (p.Ser635Ile) | |
17 | g.46031660C>G | CA399986096 | KANSL1 | c.3134G>C (p.Ser1045Thr) c.3131G>C (p.Ser1044Thr) c.2942G>C (p.Ser981Thr) n.551G>C c.3002G>C (p.Ser1001Thr) n.7351G>C n.907G>C n.1106G>C c.3032G>C (p.Ser1011Thr) c.2945G>C (p.Ser982Thr) c.1904G>C (p.Ser635Thr) | |
17 | g.46031660C>T | CA399986097 | KANSL1 | c.3134G>A (p.Ser1045Asn) c.3131G>A (p.Ser1044Asn) c.2942G>A (p.Ser981Asn) n.551G>A c.3002G>A (p.Ser1001Asn) n.7351G>A n.907G>A n.1106G>A c.3032G>A (p.Ser1011Asn) c.2945G>A (p.Ser982Asn) c.1904G>A (p.Ser635Asn) | |
17 | g.46031661T>A | CA399986098 | KANSL1 | c.3133A>T (p.Ser1045Cys) c.3130A>T (p.Ser1044Cys) c.2941A>T (p.Ser981Cys) n.550A>T c.3001A>T (p.Ser1001Cys) n.7350A>T n.906A>T n.1105A>T c.3031A>T (p.Ser1011Cys) c.2944A>T (p.Ser982Cys) c.1903A>T (p.Ser635Cys) | |
17 | g.46031661T>C | CA399986099 | KANSL1 | c.3133A>G (p.Ser1045Gly) c.3130A>G (p.Ser1044Gly) c.2941A>G (p.Ser981Gly) n.550A>G c.3001A>G (p.Ser1001Gly) n.7350A>G n.906A>G n.1105A>G c.3031A>G (p.Ser1011Gly) c.2944A>G (p.Ser982Gly) c.1903A>G (p.Ser635Gly) | |
17 | g.46031661T>G | CA399986100 | KANSL1 | c.3133A>C (p.Ser1045Arg) c.3130A>C (p.Ser1044Arg) c.2941A>C (p.Ser981Arg) n.550A>C c.3001A>C (p.Ser1001Arg) n.7350A>C n.906A>C n.1105A>C c.3031A>C (p.Ser1011Arg) c.2944A>C (p.Ser982Arg) c.1903A>C (p.Ser635Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031661T= | CA2262110788 | KANSL1 | c.3133A= (p.Ser1045=) c.3130A= (p.Ser1044=) c.2941A= (p.Ser981=) n.550A= c.3001A= (p.Ser1001=) n.7350A= n.906A= n.1105A= c.3031A= (p.Ser1011=) c.2944A= (p.Ser982=) c.1903A= (p.Ser635=) | |
17 | g.46031662G>A | CA500371713 | KANSL1 | c.3132C>T (p.His1044=) c.3129C>T (p.His1043=) c.2940C>T (p.His980=) n.549C>T c.3000C>T (p.His1000=) n.7349C>T n.905C>T n.1104C>T c.3030C>T (p.His1010=) c.2943C>T (p.His981=) c.1902C>T (p.His634=) | |
17 | g.46031662G>C | CA399986101 | KANSL1 | c.3132C>G (p.His1044Gln) c.3129C>G (p.His1043Gln) c.2940C>G (p.His980Gln) n.549C>G c.3000C>G (p.His1000Gln) n.7349C>G n.905C>G n.1104C>G c.3030C>G (p.His1010Gln) c.2943C>G (p.His981Gln) c.1902C>G (p.His634Gln) | gnomAD v4 |
17 | g.46031662G>T | CA399986102 | KANSL1 | c.3132C>A (p.His1044Gln) c.3129C>A (p.His1043Gln) c.2940C>A (p.His980Gln) n.549C>A c.3000C>A (p.His1000Gln) n.7349C>A n.905C>A n.1104C>A c.3030C>A (p.His1010Gln) c.2943C>A (p.His981Gln) c.1902C>A (p.His634Gln) | |
17 | g.46031663T>A | CA399986104 | KANSL1 | c.3131A>T (p.His1044Leu) c.3128A>T (p.His1043Leu) c.2939A>T (p.His980Leu) n.548A>T c.2999A>T (p.His1000Leu) n.7348A>T n.904A>T n.1103A>T c.3029A>T (p.His1010Leu) c.2942A>T (p.His981Leu) c.1901A>T (p.His634Leu) | |
17 | g.46031663T>C | CA399986105 | KANSL1 | c.3131A>G (p.His1044Arg) c.3128A>G (p.His1043Arg) c.2939A>G (p.His980Arg) n.548A>G c.2999A>G (p.His1000Arg) n.7348A>G n.904A>G n.1103A>G c.3029A>G (p.His1010Arg) c.2942A>G (p.His981Arg) c.1901A>G (p.His634Arg) | dbSNP |
17 | g.46031663T>G | CA399986103 | KANSL1 | c.3131A>C (p.His1044Pro) c.3128A>C (p.His1043Pro) c.2939A>C (p.His980Pro) n.548A>C c.2999A>C (p.His1000Pro) n.7348A>C n.904A>C n.1103A>C c.3029A>C (p.His1010Pro) c.2942A>C (p.His981Pro) c.1901A>C (p.His634Pro) | |
17 | g.46031663T= | CA2262110789 | KANSL1 | c.3131A= (p.His1044=) c.3128A= (p.His1043=) c.2939A= (p.His980=) n.548A= c.2999A= (p.His1000=) n.7348A= n.904A= n.1103A= c.3029A= (p.His1010=) c.2942A= (p.His981=) c.1901A= (p.His634=) | |
17 | g.46031664G>A | CA399986106 | KANSL1 | c.3130C>T (p.His1044Tyr) c.3127C>T (p.His1043Tyr) c.2938C>T (p.His980Tyr) n.547C>T c.2998C>T (p.His1000Tyr) n.7347C>T n.903C>T n.1102C>T c.3028C>T (p.His1010Tyr) c.2941C>T (p.His981Tyr) c.1900C>T (p.His634Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46031664G>C | CA399986107 | KANSL1 | c.3130C>G (p.His1044Asp) c.3127C>G (p.His1043Asp) c.2938C>G (p.His980Asp) n.547C>G c.2998C>G (p.His1000Asp) n.7347C>G n.903C>G n.1102C>G c.3028C>G (p.His1010Asp) c.2941C>G (p.His981Asp) c.1900C>G (p.His634Asp) | |
17 | g.46031664G= | CA2262110790 | KANSL1 | c.3130C= (p.His1044=) c.3127C= (p.His1043=) c.2938C= (p.His980=) n.547C= c.2998C= (p.His1000=) n.7347C= n.903C= n.1102C= c.3028C= (p.His1010=) c.2941C= (p.His981=) c.1900C= (p.His634=) | |
17 | g.46031664G>T | CA399986108 | KANSL1 | c.3130C>A (p.His1044Asn) c.3127C>A (p.His1043Asn) c.2938C>A (p.His980Asn) n.547C>A c.2998C>A (p.His1000Asn) n.7347C>A n.903C>A n.1102C>A c.3028C>A (p.His1010Asn) c.2941C>A (p.His981Asn) c.1900C>A (p.His634Asn) |