Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.194604368C>A | CA355824913 | TMEM44 | c.1095G>T (p.Ser365=) c.1091G>T (p.Arg364Leu) c.1236G>T (p.Ser412=) c.*391G>T (n.*391G>T) c.287G>T (p.Arg96Leu) c.369G>T (p.Ser123=) c.594G>T (p.Ser198=) n.141G>T n.859G>T c.1245G>T (p.Ser415=) c.1182G>T (p.Ser394=) c.1293G>T (p.Ser431=) c.1161G>T (p.Ser387=) c.1152G>T (p.Ser384=) c.990G>T (p.Ser330=) c.1104G>T (p.Ser368=) | gnomAD v4 |
3 | g.194604368C= | CA1430709284 | TMEM44 | c.1095G= (p.Ser365=) c.1091G= (p.Arg364=) c.1236G= (p.Ser412=) c.*391G= (n.*391G=) c.287G= (p.Arg96=) c.369G= (p.Ser123=) c.594G= (p.Ser198=) n.141G= n.859G= c.1245G= (p.Ser415=) c.1182G= (p.Ser394=) c.1293G= (p.Ser431=) c.1161G= (p.Ser387=) c.1152G= (p.Ser384=) c.990G= (p.Ser330=) c.1104G= (p.Ser368=) | |
3 | g.194604368C>G | CA355824914 | TMEM44 | c.1095G>C (p.Ser365=) c.1091G>C (p.Arg364Pro) c.1236G>C (p.Ser412=) c.*391G>C (n.*391G>C) c.287G>C (p.Arg96Pro) c.369G>C (p.Ser123=) c.594G>C (p.Ser198=) n.141G>C n.859G>C c.1245G>C (p.Ser415=) c.1182G>C (p.Ser394=) c.1293G>C (p.Ser431=) c.1161G>C (p.Ser387=) c.1152G>C (p.Ser384=) c.990G>C (p.Ser330=) c.1104G>C (p.Ser368=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604368C>T | CA2762537 | TMEM44 | c.1095G>A (p.Ser365=) c.1091G>A (p.Arg364His) c.1236G>A (p.Ser412=) c.*391G>A (n.*391G>A) c.287G>A (p.Arg96His) c.369G>A (p.Ser123=) c.594G>A (p.Ser198=) n.141G>A n.859G>A c.1245G>A (p.Ser415=) c.1182G>A (p.Ser394=) c.1293G>A (p.Ser431=) c.1161G>A (p.Ser387=) c.1152G>A (p.Ser384=) c.990G>A (p.Ser330=) c.1104G>A (p.Ser368=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604369G>A | CA90641402 | TMEM44 | c.1094C>T (p.Ser365Leu) c.1090C>T (p.Arg364Cys) c.1235C>T (p.Ser412Leu) c.*390C>T (n.*390C>T) c.286C>T (p.Arg96Cys) c.368C>T (p.Ser123Leu) c.593C>T (p.Ser198Leu) n.140C>T n.858C>T c.1244C>T (p.Ser415Leu) c.1181C>T (p.Ser394Leu) c.1292C>T (p.Ser431Leu) c.1160C>T (p.Ser387Leu) c.1151C>T (p.Ser384Leu) c.989C>T (p.Ser330Leu) c.1103C>T (p.Ser368Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604369G>C | CA2762538 | TMEM44 | c.1094C>G (p.Ser365Trp) c.1090C>G (p.Arg364Gly) c.1235C>G (p.Ser412Trp) c.*390C>G (n.*390C>G) c.286C>G (p.Arg96Gly) c.368C>G (p.Ser123Trp) c.593C>G (p.Ser198Trp) n.140C>G n.858C>G c.1244C>G (p.Ser415Trp) c.1181C>G (p.Ser394Trp) c.1292C>G (p.Ser431Trp) c.1160C>G (p.Ser387Trp) c.1151C>G (p.Ser384Trp) c.989C>G (p.Ser330Trp) c.1103C>G (p.Ser368Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604369G= | CA1430709289 | TMEM44 | c.1094C= (p.Ser365=) c.1090C= (p.Arg364=) c.1235C= (p.Ser412=) c.*390C= (n.*390C=) c.286C= (p.Arg96=) c.368C= (p.Ser123=) c.593C= (p.Ser198=) n.140C= n.858C= c.1244C= (p.Ser415=) c.1181C= (p.Ser394=) c.1292C= (p.Ser431=) c.1160C= (p.Ser387=) c.1151C= (p.Ser384=) c.989C= (p.Ser330=) c.1103C= (p.Ser368=) | |
3 | g.194604369G>T | CA355824915 | TMEM44 | c.1094C>A (p.Ser365Ter) c.1090C>A (p.Arg364Ser) c.1235C>A (p.Ser412Ter) c.*390C>A (n.*390C>A) c.286C>A (p.Arg96Ser) c.368C>A (p.Ser123Ter) c.593C>A (p.Ser198Ter) n.140C>A n.858C>A c.1244C>A (p.Ser415Ter) c.1181C>A (p.Ser394Ter) c.1292C>A (p.Ser431Ter) c.1160C>A (p.Ser387Ter) c.1151C>A (p.Ser384Ter) c.989C>A (p.Ser330Ter) c.1103C>A (p.Ser368Ter) | gnomAD v4 |
3 | g.194604370A= | CA1430709291 | TMEM44 | c.1093T= (p.Ser365=) c.1089T= (p.Arg363=) c.1234T= (p.Ser412=) c.*389T= (n.*389T=) c.285T= (p.Arg95=) c.367T= (p.Ser123=) c.592T= (p.Ser198=) n.139T= n.857T= c.1243T= (p.Ser415=) c.1180T= (p.Ser394=) c.1291T= (p.Ser431=) c.1159T= (p.Ser387=) c.1150T= (p.Ser384=) c.988T= (p.Ser330=) c.1102T= (p.Ser368=) | |
3 | g.194604370A>C | CA355824918 | TMEM44 | c.1093T>G (p.Ser365Ala) c.1089T>G (p.Arg363=) c.1234T>G (p.Ser412Ala) c.*389T>G (n.*389T>G) c.285T>G (p.Arg95=) c.367T>G (p.Ser123Ala) c.592T>G (p.Ser198Ala) n.139T>G n.857T>G c.1243T>G (p.Ser415Ala) c.1180T>G (p.Ser394Ala) c.1291T>G (p.Ser431Ala) c.1159T>G (p.Ser387Ala) c.1150T>G (p.Ser384Ala) c.988T>G (p.Ser330Ala) c.1102T>G (p.Ser368Ala) | |
3 | g.194604370A>G | CA355824917 | TMEM44 | c.1093T>C (p.Ser365Pro) c.1089T>C (p.Arg363=) c.1234T>C (p.Ser412Pro) c.*389T>C (n.*389T>C) c.285T>C (p.Arg95=) c.367T>C (p.Ser123Pro) c.592T>C (p.Ser198Pro) n.139T>C n.857T>C c.1243T>C (p.Ser415Pro) c.1180T>C (p.Ser394Pro) c.1291T>C (p.Ser431Pro) c.1159T>C (p.Ser387Pro) c.1150T>C (p.Ser384Pro) c.988T>C (p.Ser330Pro) c.1102T>C (p.Ser368Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604370A>T | CA355824916 | TMEM44 | c.1093T>A (p.Ser365Thr) c.1089T>A (p.Arg363=) c.1234T>A (p.Ser412Thr) c.*389T>A (n.*389T>A) c.285T>A (p.Arg95=) c.367T>A (p.Ser123Thr) c.592T>A (p.Ser198Thr) n.139T>A n.857T>A c.1243T>A (p.Ser415Thr) c.1180T>A (p.Ser394Thr) c.1291T>A (p.Ser431Thr) c.1159T>A (p.Ser387Thr) c.1150T>A (p.Ser384Thr) c.988T>A (p.Ser330Thr) c.1102T>A (p.Ser368Thr) | |
3 | g.194604371C>A | CA355824919 | TMEM44 | c.1092G>T (p.Pro364=) c.1088G>T (p.Arg363Leu) c.1233G>T (p.Pro411=) c.*388G>T (n.*388G>T) c.284G>T (p.Arg95Leu) c.366G>T (p.Pro122=) c.591G>T (p.Pro197=) n.138G>T n.856G>T c.1242G>T (p.Pro414=) c.1179G>T (p.Pro393=) c.1290G>T (p.Pro430=) c.1158G>T (p.Pro386=) c.1149G>T (p.Pro383=) c.987G>T (p.Pro329=) c.1101G>T (p.Pro367=) | gnomAD v4 |
3 | g.194604371C= | CA1430709293 | TMEM44 | c.1092G= (p.Pro364=) c.1088G= (p.Arg363=) c.1233G= (p.Pro411=) c.*388G= (n.*388G=) c.284G= (p.Arg95=) c.366G= (p.Pro122=) c.591G= (p.Pro197=) n.138G= n.856G= c.1242G= (p.Pro414=) c.1179G= (p.Pro393=) c.1290G= (p.Pro430=) c.1158G= (p.Pro386=) c.1149G= (p.Pro383=) c.987G= (p.Pro329=) c.1101G= (p.Pro367=) | |
3 | g.194604371C>G | CA355824920 | TMEM44 | c.1092G>C (p.Pro364=) c.1088G>C (p.Arg363Pro) c.1233G>C (p.Pro411=) c.*388G>C (n.*388G>C) c.284G>C (p.Arg95Pro) c.366G>C (p.Pro122=) c.591G>C (p.Pro197=) n.138G>C n.856G>C c.1242G>C (p.Pro414=) c.1179G>C (p.Pro393=) c.1290G>C (p.Pro430=) c.1158G>C (p.Pro386=) c.1149G>C (p.Pro383=) c.987G>C (p.Pro329=) c.1101G>C (p.Pro367=) | |
3 | g.194604371C>T | CA2762539 | TMEM44 | c.1092G>A (p.Pro364=) c.1088G>A (p.Arg363His) c.1233G>A (p.Pro411=) c.*388G>A (n.*388G>A) c.284G>A (p.Arg95His) c.366G>A (p.Pro122=) c.591G>A (p.Pro197=) n.138G>A n.856G>A c.1242G>A (p.Pro414=) c.1179G>A (p.Pro393=) c.1290G>A (p.Pro430=) c.1158G>A (p.Pro386=) c.1149G>A (p.Pro383=) c.987G>A (p.Pro329=) c.1101G>A (p.Pro367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604371_194604372delinsCG | CA1430709295 | TMEM44 | c.1091_1092delinsCG (p.Pro364=) c.1087_1088delinsCG (p.Arg363=) c.1232_1233delinsCG (p.Pro411=) c.*387_*388delinsCG (n.*387_*388delinsCG) c.283_284delinsCG (p.Arg95=) c.365_366delinsCG (p.Pro122=) c.590_591delinsCG (p.Pro197=) n.137_138delinsCG n.855_856delinsCG c.1241_1242delinsCG (p.Pro414=) c.1178_1179delinsCG (p.Pro393=) c.1289_1290delinsCG (p.Pro430=) c.1157_1158delinsCG (p.Pro386=) c.1148_1149delinsCG (p.Pro383=) c.986_987delinsCG (p.Pro329=) c.1100_1101delinsCG (p.Pro367=) | |
3 | g.194604372G>A | CA2762540 | TMEM44 | c.1091C>T (p.Pro364Leu) c.1087C>T (p.Arg363Cys) c.1232C>T (p.Pro411Leu) c.*387C>T (n.*387C>T) c.283C>T (p.Arg95Cys) c.365C>T (p.Pro122Leu) c.590C>T (p.Pro197Leu) n.137C>T n.855C>T c.1241C>T (p.Pro414Leu) c.1178C>T (p.Pro393Leu) c.1289C>T (p.Pro430Leu) c.1157C>T (p.Pro386Leu) c.1148C>T (p.Pro383Leu) c.986C>T (p.Pro329Leu) c.1100C>T (p.Pro367Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604372G>C | CA355824921 | TMEM44 | c.1091C>G (p.Pro364Arg) c.1087C>G (p.Arg363Gly) c.1232C>G (p.Pro411Arg) c.*387C>G (n.*387C>G) c.283C>G (p.Arg95Gly) c.365C>G (p.Pro122Arg) c.590C>G (p.Pro197Arg) n.137C>G n.855C>G c.1241C>G (p.Pro414Arg) c.1178C>G (p.Pro393Arg) c.1289C>G (p.Pro430Arg) c.1157C>G (p.Pro386Arg) c.1148C>G (p.Pro383Arg) c.986C>G (p.Pro329Arg) c.1100C>G (p.Pro367Arg) | gnomAD v4 |
3 | g.194604372G= | CA1430709301 | TMEM44 | c.1091C= (p.Pro364=) c.1087C= (p.Arg363=) c.1232C= (p.Pro411=) c.*387C= (n.*387C=) c.283C= (p.Arg95=) c.365C= (p.Pro122=) c.590C= (p.Pro197=) n.137C= n.855C= c.1241C= (p.Pro414=) c.1178C= (p.Pro393=) c.1289C= (p.Pro430=) c.1157C= (p.Pro386=) c.1148C= (p.Pro383=) c.986C= (p.Pro329=) c.1100C= (p.Pro367=) | |
3 | g.194604372G>T | CA355824922 | TMEM44 | c.1091C>A (p.Pro364Gln) c.1087C>A (p.Arg363Ser) c.1232C>A (p.Pro411Gln) c.*387C>A (n.*387C>A) c.283C>A (p.Arg95Ser) c.365C>A (p.Pro122Gln) c.590C>A (p.Pro197Gln) n.137C>A n.855C>A c.1241C>A (p.Pro414Gln) c.1178C>A (p.Pro393Gln) c.1289C>A (p.Pro430Gln) c.1157C>A (p.Pro386Gln) c.1148C>A (p.Pro383Gln) c.986C>A (p.Pro329Gln) c.1100C>A (p.Pro367Gln) | dbSNP gnomAD v4 |
3 | g.194604377dup | CA90641417 | TMEM44 | c.1091dup (p.Ser365ValfsTer19) c.1087dup (p.Arg363ProfsTer?) c.1232dup (p.Ser412ValfsTer19) c.*387dup (n.*387dup) c.283dup (p.Arg95ProfsTer?) c.365dup (p.Ser123ValfsTer19) c.590dup (p.Ser198ValfsTer19) n.137dup n.855dup c.1241dup (p.Ser415ValfsTer19) c.1178dup (p.Ser394ValfsTer19) c.1289dup (p.Ser431ValfsTer19) c.1157dup (p.Ser387ValfsTer19) c.1148dup (p.Ser384ValfsTer19) c.986dup (p.Ser330ValfsTer19) c.1100dup (p.Ser368ValfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604377del | CA548848421 | TMEM44 | c.1091del (p.Pro364ArgfsTer?) c.1087del (p.Arg363ValfsTer19) c.1232del (p.Pro411ArgfsTer?) c.*387del (n.*387del) c.283del (p.Arg95ValfsTer19) c.365del (p.Pro122ArgfsTer?) c.590del (p.Pro197ArgfsTer?) n.137del n.855del c.1241del (p.Pro414ArgfsTer?) c.1178del (p.Pro393ArgfsTer?) c.1289del (p.Pro430ArgfsTer?) c.1157del (p.Pro386ArgfsTer?) c.1148del (p.Pro383ArgfsTer?) c.986del (p.Pro329ArgfsTer?) c.1100del (p.Pro367ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.194604373G>A | CA355824923 | TMEM44 | c.1090C>T (p.Pro364Ser) c.1086C>T (p.Pro362=) c.1231C>T (p.Pro411Ser) c.*386C>T (n.*386C>T) c.282C>T (p.Pro94=) c.364C>T (p.Pro122Ser) c.589C>T (p.Pro197Ser) n.136C>T n.854C>T c.1240C>T (p.Pro414Ser) c.1177C>T (p.Pro393Ser) c.1288C>T (p.Pro430Ser) c.1156C>T (p.Pro386Ser) c.1147C>T (p.Pro383Ser) c.985C>T (p.Pro329Ser) c.1099C>T (p.Pro367Ser) | |
3 | g.194604373G>C | CA355824924 | TMEM44 | c.1090C>G (p.Pro364Ala) c.1086C>G (p.Pro362=) c.1231C>G (p.Pro411Ala) c.*386C>G (n.*386C>G) c.282C>G (p.Pro94=) c.364C>G (p.Pro122Ala) c.589C>G (p.Pro197Ala) n.136C>G n.854C>G c.1240C>G (p.Pro414Ala) c.1177C>G (p.Pro393Ala) c.1288C>G (p.Pro430Ala) c.1156C>G (p.Pro386Ala) c.1147C>G (p.Pro383Ala) c.985C>G (p.Pro329Ala) c.1099C>G (p.Pro367Ala) | |
3 | g.194604373G>T | CA355824925 | TMEM44 | c.1090C>A (p.Pro364Thr) c.1086C>A (p.Pro362=) c.1231C>A (p.Pro411Thr) c.*386C>A (n.*386C>A) c.282C>A (p.Pro94=) c.364C>A (p.Pro122Thr) c.589C>A (p.Pro197Thr) n.136C>A n.854C>A c.1240C>A (p.Pro414Thr) c.1177C>A (p.Pro393Thr) c.1288C>A (p.Pro430Thr) c.1156C>A (p.Pro386Thr) c.1147C>A (p.Pro383Thr) c.985C>A (p.Pro329Thr) c.1099C>A (p.Pro367Thr) | gnomAD v4 |
3 | g.194604374G>A | CA2762541 | TMEM44 | c.1089C>T (p.Pro363=) c.1085C>T (p.Pro362Leu) c.1230C>T (p.Pro410=) c.*385C>T (n.*385C>T) c.281C>T (p.Pro94Leu) c.363C>T (p.Pro121=) c.588C>T (p.Pro196=) n.135C>T n.853C>T c.1239C>T (p.Pro413=) c.1176C>T (p.Pro392=) c.1287C>T (p.Pro429=) c.1155C>T (p.Pro385=) c.1146C>T (p.Pro382=) c.984C>T (p.Pro328=) c.1098C>T (p.Pro366=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604374G>C | CA355824926 | TMEM44 | c.1089C>G (p.Pro363=) c.1085C>G (p.Pro362Arg) c.1230C>G (p.Pro410=) c.*385C>G (n.*385C>G) c.281C>G (p.Pro94Arg) c.363C>G (p.Pro121=) c.588C>G (p.Pro196=) n.135C>G n.853C>G c.1239C>G (p.Pro413=) c.1176C>G (p.Pro392=) c.1287C>G (p.Pro429=) c.1155C>G (p.Pro385=) c.1146C>G (p.Pro382=) c.984C>G (p.Pro328=) c.1098C>G (p.Pro366=) | |
3 | g.194604374G= | CA1430709306 | TMEM44 | c.1089C= (p.Pro363=) c.1085C= (p.Pro362=) c.1230C= (p.Pro410=) c.*385C= (n.*385C=) c.281C= (p.Pro94=) c.363C= (p.Pro121=) c.588C= (p.Pro196=) n.135C= n.853C= c.1239C= (p.Pro413=) c.1176C= (p.Pro392=) c.1287C= (p.Pro429=) c.1155C= (p.Pro385=) c.1146C= (p.Pro382=) c.984C= (p.Pro328=) c.1098C= (p.Pro366=) | |
3 | g.194604374G>T | CA355824927 | TMEM44 | c.1089C>A (p.Pro363=) c.1085C>A (p.Pro362His) c.1230C>A (p.Pro410=) c.*385C>A (n.*385C>A) c.281C>A (p.Pro94His) c.363C>A (p.Pro121=) c.588C>A (p.Pro196=) n.135C>A n.853C>A c.1239C>A (p.Pro413=) c.1176C>A (p.Pro392=) c.1287C>A (p.Pro429=) c.1155C>A (p.Pro385=) c.1146C>A (p.Pro382=) c.984C>A (p.Pro328=) c.1098C>A (p.Pro366=) | gnomAD v4 |
3 | g.194604375G>A | CA355824928 | TMEM44 | c.1088C>T (p.Pro363Leu) c.1084C>T (p.Pro362Ser) c.1229C>T (p.Pro410Leu) c.*384C>T (n.*384C>T) c.280C>T (p.Pro94Ser) c.362C>T (p.Pro121Leu) c.587C>T (p.Pro196Leu) n.134C>T n.852C>T c.1238C>T (p.Pro413Leu) c.1175C>T (p.Pro392Leu) c.1286C>T (p.Pro429Leu) c.1154C>T (p.Pro385Leu) c.1145C>T (p.Pro382Leu) c.983C>T (p.Pro328Leu) c.1097C>T (p.Pro366Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604375G>C | CA355824930 | TMEM44 | c.1088C>G (p.Pro363Arg) c.1084C>G (p.Pro362Ala) c.1229C>G (p.Pro410Arg) c.*384C>G (n.*384C>G) c.280C>G (p.Pro94Ala) c.362C>G (p.Pro121Arg) c.587C>G (p.Pro196Arg) n.134C>G n.852C>G c.1238C>G (p.Pro413Arg) c.1175C>G (p.Pro392Arg) c.1286C>G (p.Pro429Arg) c.1154C>G (p.Pro385Arg) c.1145C>G (p.Pro382Arg) c.983C>G (p.Pro328Arg) c.1097C>G (p.Pro366Arg) | |
3 | g.194604375G= | CA1430709310 | TMEM44 | c.1088C= (p.Pro363=) c.1084C= (p.Pro362=) c.1229C= (p.Pro410=) c.*384C= (n.*384C=) c.280C= (p.Pro94=) c.362C= (p.Pro121=) c.587C= (p.Pro196=) n.134C= n.852C= c.1238C= (p.Pro413=) c.1175C= (p.Pro392=) c.1286C= (p.Pro429=) c.1154C= (p.Pro385=) c.1145C= (p.Pro382=) c.983C= (p.Pro328=) c.1097C= (p.Pro366=) | |
3 | g.194604375G>T | CA355824929 | TMEM44 | c.1088C>A (p.Pro363His) c.1084C>A (p.Pro362Thr) c.1229C>A (p.Pro410His) c.*384C>A (n.*384C>A) c.280C>A (p.Pro94Thr) c.362C>A (p.Pro121His) c.587C>A (p.Pro196His) n.134C>A n.852C>A c.1238C>A (p.Pro413His) c.1175C>A (p.Pro392His) c.1286C>A (p.Pro429His) c.1154C>A (p.Pro385His) c.1145C>A (p.Pro382His) c.983C>A (p.Pro328His) c.1097C>A (p.Pro366His) | |
3 | g.194604376G>A | CA355824931 | TMEM44 | c.1087C>T (p.Pro363Ser) c.1083C>T (p.Thr361=) c.1228C>T (p.Pro410Ser) c.*383C>T (n.*383C>T) c.279C>T (p.Thr93=) c.361C>T (p.Pro121Ser) c.586C>T (p.Pro196Ser) n.133C>T n.851C>T c.1237C>T (p.Pro413Ser) c.1174C>T (p.Pro392Ser) c.1285C>T (p.Pro429Ser) c.1153C>T (p.Pro385Ser) c.1144C>T (p.Pro382Ser) c.982C>T (p.Pro328Ser) c.1096C>T (p.Pro366Ser) | gnomAD v4 |
3 | g.194604376G>C | CA355824933 | TMEM44 | c.1087C>G (p.Pro363Ala) c.1083C>G (p.Thr361=) c.1228C>G (p.Pro410Ala) c.*383C>G (n.*383C>G) c.279C>G (p.Thr93=) c.361C>G (p.Pro121Ala) c.586C>G (p.Pro196Ala) n.133C>G n.851C>G c.1237C>G (p.Pro413Ala) c.1174C>G (p.Pro392Ala) c.1285C>G (p.Pro429Ala) c.1153C>G (p.Pro385Ala) c.1144C>G (p.Pro382Ala) c.982C>G (p.Pro328Ala) c.1096C>G (p.Pro366Ala) | gnomAD v4 |
3 | g.194604376G>T | CA355824932 | TMEM44 | c.1087C>A (p.Pro363Thr) c.1083C>A (p.Thr361=) c.1228C>A (p.Pro410Thr) c.*383C>A (n.*383C>A) c.279C>A (p.Thr93=) c.361C>A (p.Pro121Thr) c.586C>A (p.Pro196Thr) n.133C>A n.851C>A c.1237C>A (p.Pro413Thr) c.1174C>A (p.Pro392Thr) c.1285C>A (p.Pro429Thr) c.1153C>A (p.Pro385Thr) c.1144C>A (p.Pro382Thr) c.982C>A (p.Pro328Thr) c.1096C>A (p.Pro366Thr) | gnomAD v4 |
3 | g.194604377G>A | CA355824934 | TMEM44 | c.1086C>T (p.Asp362=) c.1082C>T (p.Thr361Ile) c.1227C>T (p.Asp409=) c.*382C>T (n.*382C>T) c.278C>T (p.Thr93Ile) c.360C>T (p.Asp120=) c.585C>T (p.Asp195=) n.132C>T n.850C>T c.1236C>T (p.Asp412=) c.1173C>T (p.Asp391=) c.1284C>T (p.Asp428=) c.1152C>T (p.Asp384=) c.1143C>T (p.Asp381=) c.981C>T (p.Asp327=) c.1095C>T (p.Asp365=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604377G>C | CA355824935 | TMEM44 | c.1086C>G (p.Asp362Glu) c.1082C>G (p.Thr361Ser) c.1227C>G (p.Asp409Glu) c.*382C>G (n.*382C>G) c.278C>G (p.Thr93Ser) c.360C>G (p.Asp120Glu) c.585C>G (p.Asp195Glu) n.132C>G n.850C>G c.1236C>G (p.Asp412Glu) c.1173C>G (p.Asp391Glu) c.1284C>G (p.Asp428Glu) c.1152C>G (p.Asp384Glu) c.1143C>G (p.Asp381Glu) c.981C>G (p.Asp327Glu) c.1095C>G (p.Asp365Glu) | dbSNP |
3 | g.194604377G= | CA1430709314 | TMEM44 | c.1086C= (p.Asp362=) c.1082C= (p.Thr361=) c.1227C= (p.Asp409=) c.*382C= (n.*382C=) c.278C= (p.Thr93=) c.360C= (p.Asp120=) c.585C= (p.Asp195=) n.132C= n.850C= c.1236C= (p.Asp412=) c.1173C= (p.Asp391=) c.1284C= (p.Asp428=) c.1152C= (p.Asp384=) c.1143C= (p.Asp381=) c.981C= (p.Asp327=) c.1095C= (p.Asp365=) | |
3 | g.194604377G>T | CA355824936 | TMEM44 | c.1086C>A (p.Asp362Glu) c.1082C>A (p.Thr361Asn) c.1227C>A (p.Asp409Glu) c.*382C>A (n.*382C>A) c.278C>A (p.Thr93Asn) c.360C>A (p.Asp120Glu) c.585C>A (p.Asp195Glu) n.132C>A n.850C>A c.1236C>A (p.Asp412Glu) c.1173C>A (p.Asp391Glu) c.1284C>A (p.Asp428Glu) c.1152C>A (p.Asp384Glu) c.1143C>A (p.Asp381Glu) c.981C>A (p.Asp327Glu) c.1095C>A (p.Asp365Glu) | dbSNP gnomAD v4 |
3 | g.194604378T>A | CA355824937 | TMEM44 | c.1085A>T (p.Asp362Val) c.1081A>T (p.Thr361Ser) c.1226A>T (p.Asp409Val) c.*381A>T (n.*381A>T) c.277A>T (p.Thr93Ser) c.359A>T (p.Asp120Val) c.584A>T (p.Asp195Val) n.131A>T n.849A>T c.1235A>T (p.Asp412Val) c.1172A>T (p.Asp391Val) c.1283A>T (p.Asp428Val) c.1151A>T (p.Asp384Val) c.1142A>T (p.Asp381Val) c.980A>T (p.Asp327Val) c.1094A>T (p.Asp365Val) | |
3 | g.194604378T>C | CA355824938 | TMEM44 | c.1085A>G (p.Asp362Gly) c.1081A>G (p.Thr361Ala) c.1226A>G (p.Asp409Gly) c.*381A>G (n.*381A>G) c.277A>G (p.Thr93Ala) c.359A>G (p.Asp120Gly) c.584A>G (p.Asp195Gly) n.131A>G n.849A>G c.1235A>G (p.Asp412Gly) c.1172A>G (p.Asp391Gly) c.1283A>G (p.Asp428Gly) c.1151A>G (p.Asp384Gly) c.1142A>G (p.Asp381Gly) c.980A>G (p.Asp327Gly) c.1094A>G (p.Asp365Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604378T>G | CA355824939 | TMEM44 | c.1085A>C (p.Asp362Ala) c.1081A>C (p.Thr361Pro) c.1226A>C (p.Asp409Ala) c.*381A>C (n.*381A>C) c.277A>C (p.Thr93Pro) c.359A>C (p.Asp120Ala) c.584A>C (p.Asp195Ala) n.131A>C n.849A>C c.1235A>C (p.Asp412Ala) c.1172A>C (p.Asp391Ala) c.1283A>C (p.Asp428Ala) c.1151A>C (p.Asp384Ala) c.1142A>C (p.Asp381Ala) c.980A>C (p.Asp327Ala) c.1094A>C (p.Asp365Ala) | dbSNP gnomAD v4 |
3 | g.194604378T= | CA1430709318 | TMEM44 | c.1085A= (p.Asp362=) c.1081A= (p.Thr361=) c.1226A= (p.Asp409=) c.*381A= (n.*381A=) c.277A= (p.Thr93=) c.359A= (p.Asp120=) c.584A= (p.Asp195=) n.131A= n.849A= c.1235A= (p.Asp412=) c.1172A= (p.Asp391=) c.1283A= (p.Asp428=) c.1151A= (p.Asp384=) c.1142A= (p.Asp381=) c.980A= (p.Asp327=) c.1094A= (p.Asp365=) | |
3 | g.194604378_194604379delinsTC | CA1430709319 | TMEM44 | c.1084_1085delinsGA (p.Asp362=) c.1080_1081delinsGA (p.Arg360=) c.1225_1226delinsGA (p.Asp409=) c.*380_*381delinsGA (n.*380_*381delinsGA) c.276_277delinsGA (p.Arg92=) c.358_359delinsGA (p.Asp120=) c.583_584delinsGA (p.Asp195=) n.130_131delinsGA n.848_849delinsGA c.1234_1235delinsGA (p.Asp412=) c.1171_1172delinsGA (p.Asp391=) c.1282_1283delinsGA (p.Asp428=) c.1150_1151delinsGA (p.Asp384=) c.1141_1142delinsGA (p.Asp381=) c.979_980delinsGA (p.Asp327=) c.1093_1094delinsGA (p.Asp365=) | |
3 | g.194604379C>A | CA355824940 | TMEM44 | c.1084G>T (p.Asp362Tyr) c.1080G>T (p.Arg360Ser) c.1225G>T (p.Asp409Tyr) c.*380G>T (n.*380G>T) c.276G>T (p.Arg92Ser) c.358G>T (p.Asp120Tyr) c.583G>T (p.Asp195Tyr) n.130G>T n.848G>T c.1234G>T (p.Asp412Tyr) c.1171G>T (p.Asp391Tyr) c.1282G>T (p.Asp428Tyr) c.1150G>T (p.Asp384Tyr) c.1141G>T (p.Asp381Tyr) c.979G>T (p.Asp327Tyr) c.1093G>T (p.Asp365Tyr) | gnomAD v4 |
3 | g.194604379C>G | CA355824941 | TMEM44 | c.1084G>C (p.Asp362His) c.1080G>C (p.Arg360Ser) c.1225G>C (p.Asp409His) c.*380G>C (n.*380G>C) c.276G>C (p.Arg92Ser) c.358G>C (p.Asp120His) c.583G>C (p.Asp195His) n.130G>C n.848G>C c.1234G>C (p.Asp412His) c.1171G>C (p.Asp391His) c.1282G>C (p.Asp428His) c.1150G>C (p.Asp384His) c.1141G>C (p.Asp381His) c.979G>C (p.Asp327His) c.1093G>C (p.Asp365His) | |
3 | g.194604379C>T | CA355824942 | TMEM44 | c.1084G>A (p.Asp362Asn) c.1080G>A (p.Arg360=) c.1225G>A (p.Asp409Asn) c.*380G>A (n.*380G>A) c.276G>A (p.Arg92=) c.358G>A (p.Asp120Asn) c.583G>A (p.Asp195Asn) n.130G>A n.848G>A c.1234G>A (p.Asp412Asn) c.1171G>A (p.Asp391Asn) c.1282G>A (p.Asp428Asn) c.1150G>A (p.Asp384Asn) c.1141G>A (p.Asp381Asn) c.979G>A (p.Asp327Asn) c.1093G>A (p.Asp365Asn) | gnomAD v4 |
3 | g.194604380del | CA904632920 | TMEM44 | c.1084del (p.Asp362ThrfsTer?) c.1080del (p.Thr361ProfsTer21) c.1225del (p.Asp409ThrfsTer?) c.*380del (n.*380del) c.276del (p.Thr93ProfsTer21) c.358del (p.Asp120ThrfsTer?) c.583del (p.Asp195ThrfsTer?) n.130del n.848del c.1234del (p.Asp412ThrfsTer?) c.1171del (p.Asp391ThrfsTer?) c.1282del (p.Asp428ThrfsTer?) c.1150del (p.Asp384ThrfsTer?) c.1141del (p.Asp381ThrfsTer?) c.979del (p.Asp327ThrfsTer?) c.1093del (p.Asp365ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604380C>A | CA355824943 | TMEM44 | c.1083G>T (p.Gln361His) c.1079G>T (p.Arg360Met) c.1224G>T (p.Gln408His) c.*379G>T (n.*379G>T) c.275G>T (p.Arg92Met) c.357G>T (p.Gln119His) c.582G>T (p.Gln194His) n.129G>T n.847G>T c.1233G>T (p.Gln411His) c.1170G>T (p.Gln390His) c.1281G>T (p.Gln427His) c.1149G>T (p.Gln383His) c.1140G>T (p.Gln380His) c.978G>T (p.Gln326His) c.1092G>T (p.Gln364His) | gnomAD v4 |
3 | g.194604380C>G | CA355824944 | TMEM44 | c.1083G>C (p.Gln361His) c.1079G>C (p.Arg360Thr) c.1224G>C (p.Gln408His) c.*379G>C (n.*379G>C) c.275G>C (p.Arg92Thr) c.357G>C (p.Gln119His) c.582G>C (p.Gln194His) n.129G>C n.847G>C c.1233G>C (p.Gln411His) c.1170G>C (p.Gln390His) c.1281G>C (p.Gln427His) c.1149G>C (p.Gln383His) c.1140G>C (p.Gln380His) c.978G>C (p.Gln326His) c.1092G>C (p.Gln364His) | |
3 | g.194604380C>T | CA355824945 | TMEM44 | c.1083G>A (p.Gln361=) c.1079G>A (p.Arg360Lys) c.1224G>A (p.Gln408=) c.*379G>A (n.*379G>A) c.275G>A (p.Arg92Lys) c.357G>A (p.Gln119=) c.582G>A (p.Gln194=) n.129G>A n.847G>A c.1233G>A (p.Gln411=) c.1170G>A (p.Gln390=) c.1281G>A (p.Gln427=) c.1149G>A (p.Gln383=) c.1140G>A (p.Gln380=) c.978G>A (p.Gln326=) c.1092G>A (p.Gln364=) | |
3 | g.194604381T>A | CA355824946 | TMEM44 | c.1082A>T (p.Gln361Leu) c.1078A>T (p.Arg360Trp) c.1223A>T (p.Gln408Leu) c.*378A>T (n.*378A>T) c.274A>T (p.Arg92Trp) c.356A>T (p.Gln119Leu) c.581A>T (p.Gln194Leu) n.128A>T n.846A>T c.1232A>T (p.Gln411Leu) c.1169A>T (p.Gln390Leu) c.1280A>T (p.Gln427Leu) c.1148A>T (p.Gln383Leu) c.1139A>T (p.Gln380Leu) c.977A>T (p.Gln326Leu) c.1091A>T (p.Gln364Leu) | gnomAD v4 |
3 | g.194604381T>C | CA355824948 | TMEM44 | c.1082A>G (p.Gln361Arg) c.1078A>G (p.Arg360Gly) c.1223A>G (p.Gln408Arg) c.*378A>G (n.*378A>G) c.274A>G (p.Arg92Gly) c.356A>G (p.Gln119Arg) c.581A>G (p.Gln194Arg) n.128A>G n.846A>G c.1232A>G (p.Gln411Arg) c.1169A>G (p.Gln390Arg) c.1280A>G (p.Gln427Arg) c.1148A>G (p.Gln383Arg) c.1139A>G (p.Gln380Arg) c.977A>G (p.Gln326Arg) c.1091A>G (p.Gln364Arg) | dbSNP gnomAD v4 |
3 | g.194604381T>G | CA355824947 | TMEM44 | c.1082A>C (p.Gln361Pro) c.1078A>C (p.Arg360=) c.1223A>C (p.Gln408Pro) c.*378A>C (n.*378A>C) c.274A>C (p.Arg92=) c.356A>C (p.Gln119Pro) c.581A>C (p.Gln194Pro) n.128A>C n.846A>C c.1232A>C (p.Gln411Pro) c.1169A>C (p.Gln390Pro) c.1280A>C (p.Gln427Pro) c.1148A>C (p.Gln383Pro) c.1139A>C (p.Gln380Pro) c.977A>C (p.Gln326Pro) c.1091A>C (p.Gln364Pro) | |
3 | g.194604382G>A | CA355824949 | TMEM44 | c.1081C>T (p.Gln361Ter) c.1077C>T (p.Cys359=) c.1222C>T (p.Gln408Ter) c.*377C>T (n.*377C>T) c.273C>T (p.Cys91=) c.355C>T (p.Gln119Ter) c.580C>T (p.Gln194Ter) n.127C>T n.845C>T c.1231C>T (p.Gln411Ter) c.1168C>T (p.Gln390Ter) c.1279C>T (p.Gln427Ter) c.1147C>T (p.Gln383Ter) c.1138C>T (p.Gln380Ter) c.976C>T (p.Gln326Ter) c.1090C>T (p.Gln364Ter) | gnomAD v4 |
3 | g.194604382G>C | CA355824950 | TMEM44 | c.1081C>G (p.Gln361Glu) c.1077C>G (p.Cys359Trp) c.1222C>G (p.Gln408Glu) c.*377C>G (n.*377C>G) c.273C>G (p.Cys91Trp) c.355C>G (p.Gln119Glu) c.580C>G (p.Gln194Glu) n.127C>G n.845C>G c.1231C>G (p.Gln411Glu) c.1168C>G (p.Gln390Glu) c.1279C>G (p.Gln427Glu) c.1147C>G (p.Gln383Glu) c.1138C>G (p.Gln380Glu) c.976C>G (p.Gln326Glu) c.1090C>G (p.Gln364Glu) | |
3 | g.194604382G>T | CA355824951 | TMEM44 | c.1081C>A (p.Gln361Lys) c.1077C>A (p.Cys359Ter) c.1222C>A (p.Gln408Lys) c.*377C>A (n.*377C>A) c.273C>A (p.Cys91Ter) c.355C>A (p.Gln119Lys) c.580C>A (p.Gln194Lys) n.127C>A n.845C>A c.1231C>A (p.Gln411Lys) c.1168C>A (p.Gln390Lys) c.1279C>A (p.Gln427Lys) c.1147C>A (p.Gln383Lys) c.1138C>A (p.Gln380Lys) c.976C>A (p.Gln326Lys) c.1090C>A (p.Gln364Lys) | gnomAD v4 |
3 | g.194604383C>A | CA355824952 | TMEM44 | c.1080G>T (p.Leu360=) c.1076G>T (p.Cys359Phe) c.1221G>T (p.Leu407=) c.*376G>T (n.*376G>T) c.272G>T (p.Cys91Phe) c.354G>T (p.Leu118=) c.579G>T (p.Leu193=) n.126G>T n.844G>T c.1230G>T (p.Leu410=) c.1167G>T (p.Leu389=) c.1278G>T (p.Leu426=) c.1146G>T (p.Leu382=) c.1137G>T (p.Leu379=) c.975G>T (p.Leu325=) c.1089G>T (p.Leu363=) | gnomAD v4 |
3 | g.194604383C>G | CA355824953 | TMEM44 | c.1080G>C (p.Leu360=) c.1076G>C (p.Cys359Ser) c.1221G>C (p.Leu407=) c.*376G>C (n.*376G>C) c.272G>C (p.Cys91Ser) c.354G>C (p.Leu118=) c.579G>C (p.Leu193=) n.126G>C n.844G>C c.1230G>C (p.Leu410=) c.1167G>C (p.Leu389=) c.1278G>C (p.Leu426=) c.1146G>C (p.Leu382=) c.1137G>C (p.Leu379=) c.975G>C (p.Leu325=) c.1089G>C (p.Leu363=) | |
3 | g.194604383C>T | CA355824954 | TMEM44 | c.1080G>A (p.Leu360=) c.1076G>A (p.Cys359Tyr) c.1221G>A (p.Leu407=) c.*376G>A (n.*376G>A) c.272G>A (p.Cys91Tyr) c.354G>A (p.Leu118=) c.579G>A (p.Leu193=) n.126G>A n.844G>A c.1230G>A (p.Leu410=) c.1167G>A (p.Leu389=) c.1278G>A (p.Leu426=) c.1146G>A (p.Leu382=) c.1137G>A (p.Leu379=) c.975G>A (p.Leu325=) c.1089G>A (p.Leu363=) | gnomAD v4 |
3 | g.194604384A= | CA1430709327 | TMEM44 | c.1079T= (p.Leu360=) c.1075T= (p.Cys359=) c.1220T= (p.Leu407=) c.*375T= (n.*375T=) c.271T= (p.Cys91=) c.353T= (p.Leu118=) c.578T= (p.Leu193=) n.125T= n.843T= c.1229T= (p.Leu410=) c.1166T= (p.Leu389=) c.1277T= (p.Leu426=) c.1145T= (p.Leu382=) c.1136T= (p.Leu379=) c.974T= (p.Leu325=) c.1088T= (p.Leu363=) | |
3 | g.194604384A>C | CA355824955 | TMEM44 | c.1079T>G (p.Leu360Arg) c.1075T>G (p.Cys359Gly) c.1220T>G (p.Leu407Arg) c.*375T>G (n.*375T>G) c.271T>G (p.Cys91Gly) c.353T>G (p.Leu118Arg) c.578T>G (p.Leu193Arg) n.125T>G n.843T>G c.1229T>G (p.Leu410Arg) c.1166T>G (p.Leu389Arg) c.1277T>G (p.Leu426Arg) c.1145T>G (p.Leu382Arg) c.1136T>G (p.Leu379Arg) c.974T>G (p.Leu325Arg) c.1088T>G (p.Leu363Arg) | |
3 | g.194604384A>G | CA355824956 | TMEM44 | c.1079T>C (p.Leu360Pro) c.1075T>C (p.Cys359Arg) c.1220T>C (p.Leu407Pro) c.*375T>C (n.*375T>C) c.271T>C (p.Cys91Arg) c.353T>C (p.Leu118Pro) c.578T>C (p.Leu193Pro) n.125T>C n.843T>C c.1229T>C (p.Leu410Pro) c.1166T>C (p.Leu389Pro) c.1277T>C (p.Leu426Pro) c.1145T>C (p.Leu382Pro) c.1136T>C (p.Leu379Pro) c.974T>C (p.Leu325Pro) c.1088T>C (p.Leu363Pro) | dbSNP |
3 | g.194604384A>T | CA355824957 | TMEM44 | c.1079T>A (p.Leu360Gln) c.1075T>A (p.Cys359Ser) c.1220T>A (p.Leu407Gln) c.*375T>A (n.*375T>A) c.271T>A (p.Cys91Ser) c.353T>A (p.Leu118Gln) c.578T>A (p.Leu193Gln) n.125T>A n.843T>A c.1229T>A (p.Leu410Gln) c.1166T>A (p.Leu389Gln) c.1277T>A (p.Leu426Gln) c.1145T>A (p.Leu382Gln) c.1136T>A (p.Leu379Gln) c.974T>A (p.Leu325Gln) c.1088T>A (p.Leu363Gln) | gnomAD v4 |
3 | g.194604385G>A | CA437487267 | TMEM44 | c.1078C>T (p.Leu360=) c.1074C>T (p.Pro358=) c.1219C>T (p.Leu407=) c.*374C>T (n.*374C>T) c.270C>T (p.Pro90=) c.352C>T (p.Leu118=) c.577C>T (p.Leu193=) n.124C>T n.842C>T c.1228C>T (p.Leu410=) c.1165C>T (p.Leu389=) c.1276C>T (p.Leu426=) c.1144C>T (p.Leu382=) c.1135C>T (p.Leu379=) c.973C>T (p.Leu325=) c.1087C>T (p.Leu363=) | |
3 | g.194604385G>C | CA355824959 | TMEM44 | c.1078C>G (p.Leu360Val) c.1074C>G (p.Pro358=) c.1219C>G (p.Leu407Val) c.*374C>G (n.*374C>G) c.270C>G (p.Pro90=) c.352C>G (p.Leu118Val) c.577C>G (p.Leu193Val) n.124C>G n.842C>G c.1228C>G (p.Leu410Val) c.1165C>G (p.Leu389Val) c.1276C>G (p.Leu426Val) c.1144C>G (p.Leu382Val) c.1135C>G (p.Leu379Val) c.973C>G (p.Leu325Val) c.1087C>G (p.Leu363Val) | |
3 | g.194604385G>T | CA355824958 | TMEM44 | c.1078C>A (p.Leu360Met) c.1074C>A (p.Pro358=) c.1219C>A (p.Leu407Met) c.*374C>A (n.*374C>A) c.270C>A (p.Pro90=) c.352C>A (p.Leu118Met) c.577C>A (p.Leu193Met) n.124C>A n.842C>A c.1228C>A (p.Leu410Met) c.1165C>A (p.Leu389Met) c.1276C>A (p.Leu426Met) c.1144C>A (p.Leu382Met) c.1135C>A (p.Leu379Met) c.973C>A (p.Leu325Met) c.1087C>A (p.Leu363Met) | |
3 | g.194604386G>A | CA355824960 | TMEM44 | c.1077C>T (p.Ser359=) c.1073C>T (p.Pro358Leu) c.1218C>T (p.Ser406=) c.*373C>T (n.*373C>T) c.269C>T (p.Pro90Leu) c.351C>T (p.Ser117=) c.576C>T (p.Ser192=) n.123C>T n.841C>T c.1227C>T (p.Ser409=) c.1164C>T (p.Ser388=) c.1275C>T (p.Ser425=) c.1143C>T (p.Ser381=) c.1134C>T (p.Ser378=) c.972C>T (p.Ser324=) c.1086C>T (p.Ser362=) | gnomAD v4 |
3 | g.194604386G>C | CA355824961 | TMEM44 | c.1077C>G (p.Ser359=) c.1073C>G (p.Pro358Arg) c.1218C>G (p.Ser406=) c.*373C>G (n.*373C>G) c.269C>G (p.Pro90Arg) c.351C>G (p.Ser117=) c.576C>G (p.Ser192=) n.123C>G n.841C>G c.1227C>G (p.Ser409=) c.1164C>G (p.Ser388=) c.1275C>G (p.Ser425=) c.1143C>G (p.Ser381=) c.1134C>G (p.Ser378=) c.972C>G (p.Ser324=) c.1086C>G (p.Ser362=) | |
3 | g.194604386G= | CA1430709330 | TMEM44 | c.1077C= (p.Ser359=) c.1073C= (p.Pro358=) c.1218C= (p.Ser406=) c.*373C= (n.*373C=) c.269C= (p.Pro90=) c.351C= (p.Ser117=) c.576C= (p.Ser192=) n.123C= n.841C= c.1227C= (p.Ser409=) c.1164C= (p.Ser388=) c.1275C= (p.Ser425=) c.1143C= (p.Ser381=) c.1134C= (p.Ser378=) c.972C= (p.Ser324=) c.1086C= (p.Ser362=) | |
3 | g.194604386G>T | CA355824962 | TMEM44 | c.1077C>A (p.Ser359=) c.1073C>A (p.Pro358His) c.1218C>A (p.Ser406=) c.*373C>A (n.*373C>A) c.269C>A (p.Pro90His) c.351C>A (p.Ser117=) c.576C>A (p.Ser192=) n.123C>A n.841C>A c.1227C>A (p.Ser409=) c.1164C>A (p.Ser388=) c.1275C>A (p.Ser425=) c.1143C>A (p.Ser381=) c.1134C>A (p.Ser378=) c.972C>A (p.Ser324=) c.1086C>A (p.Ser362=) | |
3 | g.194604387G>A | CA355824963 | TMEM44 | c.1076C>T (p.Ser359Phe) c.1072C>T (p.Pro358Ser) c.1217C>T (p.Ser406Phe) c.*372C>T (n.*372C>T) c.268C>T (p.Pro90Ser) c.350C>T (p.Ser117Phe) c.575C>T (p.Ser192Phe) n.122C>T n.840C>T c.1226C>T (p.Ser409Phe) c.1163C>T (p.Ser388Phe) c.1274C>T (p.Ser425Phe) c.1142C>T (p.Ser381Phe) c.1133C>T (p.Ser378Phe) c.971C>T (p.Ser324Phe) c.1085C>T (p.Ser362Phe) | gnomAD v4 COSMIC COSMIC |
3 | g.194604387G>C | CA355824964 | TMEM44 | c.1076C>G (p.Ser359Cys) c.1072C>G (p.Pro358Ala) c.1217C>G (p.Ser406Cys) c.*372C>G (n.*372C>G) c.268C>G (p.Pro90Ala) c.350C>G (p.Ser117Cys) c.575C>G (p.Ser192Cys) n.122C>G n.840C>G c.1226C>G (p.Ser409Cys) c.1163C>G (p.Ser388Cys) c.1274C>G (p.Ser425Cys) c.1142C>G (p.Ser381Cys) c.1133C>G (p.Ser378Cys) c.971C>G (p.Ser324Cys) c.1085C>G (p.Ser362Cys) | |
3 | g.194604387G>T | CA355824965 | TMEM44 | c.1076C>A (p.Ser359Tyr) c.1072C>A (p.Pro358Thr) c.1217C>A (p.Ser406Tyr) c.*372C>A (n.*372C>A) c.268C>A (p.Pro90Thr) c.350C>A (p.Ser117Tyr) c.575C>A (p.Ser192Tyr) n.122C>A n.840C>A c.1226C>A (p.Ser409Tyr) c.1163C>A (p.Ser388Tyr) c.1274C>A (p.Ser425Tyr) c.1142C>A (p.Ser381Tyr) c.1133C>A (p.Ser378Tyr) c.971C>A (p.Ser324Tyr) c.1085C>A (p.Ser362Tyr) | |
3 | g.194604388_194604390dup | CA2762542 | TMEM44 | c.1074_1076dup (p.Ser359_Leu360insSer) c.1070_1072dup (p.Arg357_Pro358insArg) c.1215_1217dup (p.Ser406_Leu407insSer) c.*370_*372dup (n.*370_*372dup) c.266_268dup (p.Arg89_Pro90insArg) c.348_350dup (p.Ser117_Leu118insSer) c.573_575dup (p.Ser192_Leu193insSer) n.120_122dup n.838_840dup c.1224_1226dup (p.Ser409_Leu410insSer) c.1161_1163dup (p.Ser388_Leu389insSer) c.1272_1274dup (p.Ser425_Leu426insSer) c.1140_1142dup (p.Ser381_Leu382insSer) c.1131_1133dup (p.Ser378_Leu379insSer) c.969_971dup (p.Ser324_Leu325insSer) c.1083_1085dup (p.Ser362_Leu363insSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.194604388A= | CA1430709334 | TMEM44 | c.1075T= (p.Ser359=) c.1071T= (p.Arg357=) c.1216T= (p.Ser406=) c.*371T= (n.*371T=) c.267T= (p.Arg89=) c.349T= (p.Ser117=) c.574T= (p.Ser192=) n.121T= n.839T= c.1225T= (p.Ser409=) c.1162T= (p.Ser388=) c.1273T= (p.Ser425=) c.1141T= (p.Ser381=) c.1132T= (p.Ser378=) c.970T= (p.Ser324=) c.1084T= (p.Ser362=) | |
3 | g.194604388A>C | CA355824966 | TMEM44 | c.1075T>G (p.Ser359Ala) c.1071T>G (p.Arg357=) c.1216T>G (p.Ser406Ala) c.*371T>G (n.*371T>G) c.267T>G (p.Arg89=) c.349T>G (p.Ser117Ala) c.574T>G (p.Ser192Ala) n.121T>G n.839T>G c.1225T>G (p.Ser409Ala) c.1162T>G (p.Ser388Ala) c.1273T>G (p.Ser425Ala) c.1141T>G (p.Ser381Ala) c.1132T>G (p.Ser378Ala) c.970T>G (p.Ser324Ala) c.1084T>G (p.Ser362Ala) | |
3 | g.194604388A>G | CA355824967 | TMEM44 | c.1075T>C (p.Ser359Pro) c.1071T>C (p.Arg357=) c.1216T>C (p.Ser406Pro) c.*371T>C (n.*371T>C) c.267T>C (p.Arg89=) c.349T>C (p.Ser117Pro) c.574T>C (p.Ser192Pro) n.121T>C n.839T>C c.1225T>C (p.Ser409Pro) c.1162T>C (p.Ser388Pro) c.1273T>C (p.Ser425Pro) c.1141T>C (p.Ser381Pro) c.1132T>C (p.Ser378Pro) c.970T>C (p.Ser324Pro) c.1084T>C (p.Ser362Pro) | |
3 | g.194604388A>T | CA2762543 | TMEM44 | c.1075T>A (p.Ser359Thr) c.1071T>A (p.Arg357=) c.1216T>A (p.Ser406Thr) c.*371T>A (n.*371T>A) c.267T>A (p.Arg89=) c.349T>A (p.Ser117Thr) c.574T>A (p.Ser192Thr) n.121T>A n.839T>A c.1225T>A (p.Ser409Thr) c.1162T>A (p.Ser388Thr) c.1273T>A (p.Ser425Thr) c.1141T>A (p.Ser381Thr) c.1132T>A (p.Ser378Thr) c.970T>A (p.Ser324Thr) c.1084T>A (p.Ser362Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604389C>A | CA355824968 | TMEM44 | c.1074G>T (p.Ala358=) c.1070G>T (p.Arg357Leu) c.1215G>T (p.Ala405=) c.*370G>T (n.*370G>T) c.266G>T (p.Arg89Leu) c.348G>T (p.Ala116=) c.573G>T (p.Ala191=) n.120G>T n.838G>T c.1224G>T (p.Ala408=) c.1161G>T (p.Ala387=) c.1272G>T (p.Ala424=) c.1140G>T (p.Ala380=) c.1131G>T (p.Ala377=) c.969G>T (p.Ala323=) c.1083G>T (p.Ala361=) | |
3 | g.194604389C= | CA1430709337 | TMEM44 | c.1074G= (p.Ala358=) c.1070G= (p.Arg357=) c.1215G= (p.Ala405=) c.*370G= (n.*370G=) c.266G= (p.Arg89=) c.348G= (p.Ala116=) c.573G= (p.Ala191=) n.120G= n.838G= c.1224G= (p.Ala408=) c.1161G= (p.Ala387=) c.1272G= (p.Ala424=) c.1140G= (p.Ala380=) c.1131G= (p.Ala377=) c.969G= (p.Ala323=) c.1083G= (p.Ala361=) | |
3 | g.194604389C>G | CA355824969 | TMEM44 | c.1074G>C (p.Ala358=) c.1070G>C (p.Arg357Pro) c.1215G>C (p.Ala405=) c.*370G>C (n.*370G>C) c.266G>C (p.Arg89Pro) c.348G>C (p.Ala116=) c.573G>C (p.Ala191=) n.120G>C n.838G>C c.1224G>C (p.Ala408=) c.1161G>C (p.Ala387=) c.1272G>C (p.Ala424=) c.1140G>C (p.Ala380=) c.1131G>C (p.Ala377=) c.969G>C (p.Ala323=) c.1083G>C (p.Ala361=) | |
3 | g.194604389C>T | CA2762544 | TMEM44 | c.1074G>A (p.Ala358=) c.1070G>A (p.Arg357His) c.1215G>A (p.Ala405=) c.*370G>A (n.*370G>A) c.266G>A (p.Arg89His) c.348G>A (p.Ala116=) c.573G>A (p.Ala191=) n.120G>A n.838G>A c.1224G>A (p.Ala408=) c.1161G>A (p.Ala387=) c.1272G>A (p.Ala424=) c.1140G>A (p.Ala380=) c.1131G>A (p.Ala377=) c.969G>A (p.Ala323=) c.1083G>A (p.Ala361=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604390G>A | CA2762545 | TMEM44 | c.1073C>T (p.Ala358Val) c.1069C>T (p.Arg357Cys) c.1214C>T (p.Ala405Val) c.*369C>T (n.*369C>T) c.265C>T (p.Arg89Cys) c.347C>T (p.Ala116Val) c.572C>T (p.Ala191Val) n.119C>T n.837C>T c.1223C>T (p.Ala408Val) c.1160C>T (p.Ala387Val) c.1271C>T (p.Ala424Val) c.1139C>T (p.Ala380Val) c.1130C>T (p.Ala377Val) c.968C>T (p.Ala323Val) c.1082C>T (p.Ala361Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.194604390G>C | CA355824970 | TMEM44 | c.1073C>G (p.Ala358Gly) c.1069C>G (p.Arg357Gly) c.1214C>G (p.Ala405Gly) c.*369C>G (n.*369C>G) c.265C>G (p.Arg89Gly) c.347C>G (p.Ala116Gly) c.572C>G (p.Ala191Gly) n.119C>G n.837C>G c.1223C>G (p.Ala408Gly) c.1160C>G (p.Ala387Gly) c.1271C>G (p.Ala424Gly) c.1139C>G (p.Ala380Gly) c.1130C>G (p.Ala377Gly) c.968C>G (p.Ala323Gly) c.1082C>G (p.Ala361Gly) | |
3 | g.194604390G= | CA1430709341 | TMEM44 | c.1073C= (p.Ala358=) c.1069C= (p.Arg357=) c.1214C= (p.Ala405=) c.*369C= (n.*369C=) c.265C= (p.Arg89=) c.347C= (p.Ala116=) c.572C= (p.Ala191=) n.119C= n.837C= c.1223C= (p.Ala408=) c.1160C= (p.Ala387=) c.1271C= (p.Ala424=) c.1139C= (p.Ala380=) c.1130C= (p.Ala377=) c.968C= (p.Ala323=) c.1082C= (p.Ala361=) | |
3 | g.194604390G>T | CA355824971 | TMEM44 | c.1073C>A (p.Ala358Glu) c.1069C>A (p.Arg357Ser) c.1214C>A (p.Ala405Glu) c.*369C>A (n.*369C>A) c.265C>A (p.Arg89Ser) c.347C>A (p.Ala116Glu) c.572C>A (p.Ala191Glu) n.119C>A n.837C>A c.1223C>A (p.Ala408Glu) c.1160C>A (p.Ala387Glu) c.1271C>A (p.Ala424Glu) c.1139C>A (p.Ala380Glu) c.1130C>A (p.Ala377Glu) c.968C>A (p.Ala323Glu) c.1082C>A (p.Ala361Glu) | |
3 | g.194604391C>A | CA355824972 | TMEM44 | c.1072G>T (p.Ala358Ser) c.1068G>T (p.Met356Ile) c.1213G>T (p.Ala405Ser) c.*368G>T (n.*368G>T) c.264G>T (p.Met88Ile) c.346G>T (p.Ala116Ser) c.571G>T (p.Ala191Ser) n.118G>T n.836G>T c.1222G>T (p.Ala408Ser) c.1159G>T (p.Ala387Ser) c.1270G>T (p.Ala424Ser) c.1138G>T (p.Ala380Ser) c.1129G>T (p.Ala377Ser) c.967G>T (p.Ala323Ser) c.1081G>T (p.Ala361Ser) | gnomAD v4 |
3 | g.194604391C= | CA1430709348 | TMEM44 | c.1072G= (p.Ala358=) c.1068G= (p.Met356=) c.1213G= (p.Ala405=) c.*368G= (n.*368G=) c.264G= (p.Met88=) c.346G= (p.Ala116=) c.571G= (p.Ala191=) n.118G= n.836G= c.1222G= (p.Ala408=) c.1159G= (p.Ala387=) c.1270G= (p.Ala424=) c.1138G= (p.Ala380=) c.1129G= (p.Ala377=) c.967G= (p.Ala323=) c.1081G= (p.Ala361=) | |
3 | g.194604391C>G | CA2762546 | TMEM44 | c.1072G>C (p.Ala358Pro) c.1068G>C (p.Met356Ile) c.1213G>C (p.Ala405Pro) c.*368G>C (n.*368G>C) c.264G>C (p.Met88Ile) c.346G>C (p.Ala116Pro) c.571G>C (p.Ala191Pro) n.118G>C n.836G>C c.1222G>C (p.Ala408Pro) c.1159G>C (p.Ala387Pro) c.1270G>C (p.Ala424Pro) c.1138G>C (p.Ala380Pro) c.1129G>C (p.Ala377Pro) c.967G>C (p.Ala323Pro) c.1081G>C (p.Ala361Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604391C>T | CA355824973 | TMEM44 | c.1072G>A (p.Ala358Thr) c.1068G>A (p.Met356Ile) c.1213G>A (p.Ala405Thr) c.*368G>A (n.*368G>A) c.264G>A (p.Met88Ile) c.346G>A (p.Ala116Thr) c.571G>A (p.Ala191Thr) n.118G>A n.836G>A c.1222G>A (p.Ala408Thr) c.1159G>A (p.Ala387Thr) c.1270G>A (p.Ala424Thr) c.1138G>A (p.Ala380Thr) c.1129G>A (p.Ala377Thr) c.967G>A (p.Ala323Thr) c.1081G>A (p.Ala361Thr) | gnomAD v4 |
3 | g.194604392A>C | CA355824974 | TMEM44 | c.1071T>G (p.Asp357Glu) c.1067T>G (p.Met356Arg) c.1212T>G (p.Asp404Glu) c.*367T>G (n.*367T>G) c.263T>G (p.Met88Arg) c.345T>G (p.Asp115Glu) c.570T>G (p.Asp190Glu) n.117T>G n.835T>G c.1221T>G (p.Asp407Glu) c.1158T>G (p.Asp386Glu) c.1269T>G (p.Asp423Glu) c.1137T>G (p.Asp379Glu) c.1128T>G (p.Asp376Glu) c.966T>G (p.Asp322Glu) c.1080T>G (p.Asp360Glu) | |
3 | g.194604392A>G | CA355824975 | TMEM44 | c.1071T>C (p.Asp357=) c.1067T>C (p.Met356Thr) c.1212T>C (p.Asp404=) c.*367T>C (n.*367T>C) c.263T>C (p.Met88Thr) c.345T>C (p.Asp115=) c.570T>C (p.Asp190=) n.117T>C n.835T>C c.1221T>C (p.Asp407=) c.1158T>C (p.Asp386=) c.1269T>C (p.Asp423=) c.1137T>C (p.Asp379=) c.1128T>C (p.Asp376=) c.966T>C (p.Asp322=) c.1080T>C (p.Asp360=) | |
3 | g.194604392A>T | CA355824976 | TMEM44 | c.1071T>A (p.Asp357Glu) c.1067T>A (p.Met356Lys) c.1212T>A (p.Asp404Glu) c.*367T>A (n.*367T>A) c.263T>A (p.Met88Lys) c.345T>A (p.Asp115Glu) c.570T>A (p.Asp190Glu) n.117T>A n.835T>A c.1221T>A (p.Asp407Glu) c.1158T>A (p.Asp386Glu) c.1269T>A (p.Asp423Glu) c.1137T>A (p.Asp379Glu) c.1128T>A (p.Asp376Glu) c.966T>A (p.Asp322Glu) c.1080T>A (p.Asp360Glu) | |
3 | g.194604393T>A | CA355824977 | TMEM44 | c.1070A>T (p.Asp357Val) c.1066A>T (p.Met356Leu) c.1211A>T (p.Asp404Val) c.*366A>T (n.*366A>T) c.262A>T (p.Met88Leu) c.344A>T (p.Asp115Val) c.569A>T (p.Asp190Val) n.116A>T n.834A>T c.1220A>T (p.Asp407Val) c.1157A>T (p.Asp386Val) c.1268A>T (p.Asp423Val) c.1136A>T (p.Asp379Val) c.1127A>T (p.Asp376Val) c.965A>T (p.Asp322Val) c.1079A>T (p.Asp360Val) | |
3 | g.194604393T>C | CA2762547 | TMEM44 | c.1070A>G (p.Asp357Gly) c.1066A>G (p.Met356Val) c.1211A>G (p.Asp404Gly) c.*366A>G (n.*366A>G) c.262A>G (p.Met88Val) c.344A>G (p.Asp115Gly) c.569A>G (p.Asp190Gly) n.116A>G n.834A>G c.1220A>G (p.Asp407Gly) c.1157A>G (p.Asp386Gly) c.1268A>G (p.Asp423Gly) c.1136A>G (p.Asp379Gly) c.1127A>G (p.Asp376Gly) c.965A>G (p.Asp322Gly) c.1079A>G (p.Asp360Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604393T>G | CA355824978 | TMEM44 | c.1070A>C (p.Asp357Ala) c.1066A>C (p.Met356Leu) c.1211A>C (p.Asp404Ala) c.*366A>C (n.*366A>C) c.262A>C (p.Met88Leu) c.344A>C (p.Asp115Ala) c.569A>C (p.Asp190Ala) n.116A>C n.834A>C c.1220A>C (p.Asp407Ala) c.1157A>C (p.Asp386Ala) c.1268A>C (p.Asp423Ala) c.1136A>C (p.Asp379Ala) c.1127A>C (p.Asp376Ala) c.965A>C (p.Asp322Ala) c.1079A>C (p.Asp360Ala) | |
3 | g.194604393T= | CA1430709351 | TMEM44 | c.1070A= (p.Asp357=) c.1066A= (p.Met356=) c.1211A= (p.Asp404=) c.*366A= (n.*366A=) c.262A= (p.Met88=) c.344A= (p.Asp115=) c.569A= (p.Asp190=) n.116A= n.834A= c.1220A= (p.Asp407=) c.1157A= (p.Asp386=) c.1268A= (p.Asp423=) c.1136A= (p.Asp379=) c.1127A= (p.Asp376=) c.965A= (p.Asp322=) c.1079A= (p.Asp360=) | |
3 | g.194604394C>A | CA355824979 | TMEM44 | c.1069G>T (p.Asp357Tyr) c.1065G>T (p.Glu355Asp) c.1210G>T (p.Asp404Tyr) c.*365G>T (n.*365G>T) c.261G>T (p.Glu87Asp) c.343G>T (p.Asp115Tyr) c.568G>T (p.Asp190Tyr) n.115G>T n.833G>T c.1219G>T (p.Asp407Tyr) c.1156G>T (p.Asp386Tyr) c.1267G>T (p.Asp423Tyr) c.1135G>T (p.Asp379Tyr) c.1126G>T (p.Asp376Tyr) c.964G>T (p.Asp322Tyr) c.1078G>T (p.Asp360Tyr) | gnomAD v4 |
3 | g.194604394C>G | CA355824980 | TMEM44 | c.1069G>C (p.Asp357His) c.1065G>C (p.Glu355Asp) c.1210G>C (p.Asp404His) c.*365G>C (n.*365G>C) c.261G>C (p.Glu87Asp) c.343G>C (p.Asp115His) c.568G>C (p.Asp190His) n.115G>C n.833G>C c.1219G>C (p.Asp407His) c.1156G>C (p.Asp386His) c.1267G>C (p.Asp423His) c.1135G>C (p.Asp379His) c.1126G>C (p.Asp376His) c.964G>C (p.Asp322His) c.1078G>C (p.Asp360His) | |
3 | g.194604394C>T | CA355824981 | TMEM44 | c.1069G>A (p.Asp357Asn) c.1065G>A (p.Glu355=) c.1210G>A (p.Asp404Asn) c.*365G>A (n.*365G>A) c.261G>A (p.Glu87=) c.343G>A (p.Asp115Asn) c.568G>A (p.Asp190Asn) n.115G>A n.833G>A c.1219G>A (p.Asp407Asn) c.1156G>A (p.Asp386Asn) c.1267G>A (p.Asp423Asn) c.1135G>A (p.Asp379Asn) c.1126G>A (p.Asp376Asn) c.964G>A (p.Asp322Asn) c.1078G>A (p.Asp360Asn) | gnomAD v4 |
3 | g.194604395T>A | CA355824983 | TMEM44 | c.1068A>T (p.Gly356=) c.1064A>T (p.Glu355Val) c.1209A>T (p.Gly403=) c.*364A>T (n.*364A>T) c.260A>T (p.Glu87Val) c.342A>T (p.Gly114=) c.567A>T (p.Gly189=) n.114A>T n.832A>T c.1218A>T (p.Gly406=) c.1155A>T (p.Gly385=) c.1266A>T (p.Gly422=) c.1134A>T (p.Gly378=) c.1125A>T (p.Gly375=) c.963A>T (p.Gly321=) c.1077A>T (p.Gly359=) | dbSNP |
3 | g.194604395T>C | CA355824984 | TMEM44 | c.1068A>G (p.Gly356=) c.1064A>G (p.Glu355Gly) c.1209A>G (p.Gly403=) c.*364A>G (n.*364A>G) c.260A>G (p.Glu87Gly) c.342A>G (p.Gly114=) c.567A>G (p.Gly189=) n.114A>G n.832A>G c.1218A>G (p.Gly406=) c.1155A>G (p.Gly385=) c.1266A>G (p.Gly422=) c.1134A>G (p.Gly378=) c.1125A>G (p.Gly375=) c.963A>G (p.Gly321=) c.1077A>G (p.Gly359=) | |
3 | g.194604395T>G | CA355824982 | TMEM44 | c.1068A>C (p.Gly356=) c.1064A>C (p.Glu355Ala) c.1209A>C (p.Gly403=) c.*364A>C (n.*364A>C) c.260A>C (p.Glu87Ala) c.342A>C (p.Gly114=) c.567A>C (p.Gly189=) n.114A>C n.832A>C c.1218A>C (p.Gly406=) c.1155A>C (p.Gly385=) c.1266A>C (p.Gly422=) c.1134A>C (p.Gly378=) c.1125A>C (p.Gly375=) c.963A>C (p.Gly321=) c.1077A>C (p.Gly359=) | |
3 | g.194604395T= | CA1430709354 | TMEM44 | c.1068A= (p.Gly356=) c.1064A= (p.Glu355=) c.1209A= (p.Gly403=) c.*364A= (n.*364A=) c.260A= (p.Glu87=) c.342A= (p.Gly114=) c.567A= (p.Gly189=) n.114A= n.832A= c.1218A= (p.Gly406=) c.1155A= (p.Gly385=) c.1266A= (p.Gly422=) c.1134A= (p.Gly378=) c.1125A= (p.Gly375=) c.963A= (p.Gly321=) c.1077A= (p.Gly359=) | |
3 | g.194604396C>A | CA355824987 | TMEM44 | c.1067G>T (p.Gly356Val) c.1063G>T (p.Glu355Ter) c.1208G>T (p.Gly403Val) c.*363G>T (n.*363G>T) c.259G>T (p.Glu87Ter) c.341G>T (p.Gly114Val) c.566G>T (p.Gly189Val) n.113G>T n.831G>T c.1217G>T (p.Gly406Val) c.1154G>T (p.Gly385Val) c.1265G>T (p.Gly422Val) c.1133G>T (p.Gly378Val) c.1124G>T (p.Gly375Val) c.962G>T (p.Gly321Val) c.1076G>T (p.Gly359Val) | |
3 | g.194604396C= | CA1430709357 | TMEM44 | c.1067G= (p.Gly356=) c.1063G= (p.Glu355=) c.1208G= (p.Gly403=) c.*363G= (n.*363G=) c.259G= (p.Glu87=) c.341G= (p.Gly114=) c.566G= (p.Gly189=) n.113G= n.831G= c.1217G= (p.Gly406=) c.1154G= (p.Gly385=) c.1265G= (p.Gly422=) c.1133G= (p.Gly378=) c.1124G= (p.Gly375=) c.962G= (p.Gly321=) c.1076G= (p.Gly359=) | |
3 | g.194604396C>G | CA355824985 | TMEM44 | c.1067G>C (p.Gly356Ala) c.1063G>C (p.Glu355Gln) c.1208G>C (p.Gly403Ala) c.*363G>C (n.*363G>C) c.259G>C (p.Glu87Gln) c.341G>C (p.Gly114Ala) c.566G>C (p.Gly189Ala) n.113G>C n.831G>C c.1217G>C (p.Gly406Ala) c.1154G>C (p.Gly385Ala) c.1265G>C (p.Gly422Ala) c.1133G>C (p.Gly378Ala) c.1124G>C (p.Gly375Ala) c.962G>C (p.Gly321Ala) c.1076G>C (p.Gly359Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604396C>T | CA355824986 | TMEM44 | c.1067G>A (p.Gly356Glu) c.1063G>A (p.Glu355Lys) c.1208G>A (p.Gly403Glu) c.*363G>A (n.*363G>A) c.259G>A (p.Glu87Lys) c.341G>A (p.Gly114Glu) c.566G>A (p.Gly189Glu) n.113G>A n.831G>A c.1217G>A (p.Gly406Glu) c.1154G>A (p.Gly385Glu) c.1265G>A (p.Gly422Glu) c.1133G>A (p.Gly378Glu) c.1124G>A (p.Gly375Glu) c.962G>A (p.Gly321Glu) c.1076G>A (p.Gly359Glu) | gnomAD v4 |
3 | g.194604397C>A | CA355824988 | TMEM44 | c.1066G>T (p.Gly356Ter) c.1062G>T (p.Pro354=) c.1207G>T (p.Gly403Ter) c.*362G>T (n.*362G>T) c.258G>T (p.Pro86=) c.340G>T (p.Gly114Ter) c.565G>T (p.Gly189Ter) n.112G>T n.830G>T c.1216G>T (p.Gly406Ter) c.1153G>T (p.Gly385Ter) c.1264G>T (p.Gly422Ter) c.1132G>T (p.Gly378Ter) c.1123G>T (p.Gly375Ter) c.961G>T (p.Gly321Ter) c.1075G>T (p.Gly359Ter) | dbSNP gnomAD v4 |
3 | g.194604397C= | CA1430709359 | TMEM44 | c.1066G= (p.Gly356=) c.1062G= (p.Pro354=) c.1207G= (p.Gly403=) c.*362G= (n.*362G=) c.258G= (p.Pro86=) c.340G= (p.Gly114=) c.565G= (p.Gly189=) n.112G= n.830G= c.1216G= (p.Gly406=) c.1153G= (p.Gly385=) c.1264G= (p.Gly422=) c.1132G= (p.Gly378=) c.1123G= (p.Gly375=) c.961G= (p.Gly321=) c.1075G= (p.Gly359=) | |
3 | g.194604397C>G | CA355824989 | TMEM44 | c.1066G>C (p.Gly356Arg) c.1062G>C (p.Pro354=) c.1207G>C (p.Gly403Arg) c.*362G>C (n.*362G>C) c.258G>C (p.Pro86=) c.340G>C (p.Gly114Arg) c.565G>C (p.Gly189Arg) n.112G>C n.830G>C c.1216G>C (p.Gly406Arg) c.1153G>C (p.Gly385Arg) c.1264G>C (p.Gly422Arg) c.1132G>C (p.Gly378Arg) c.1123G>C (p.Gly375Arg) c.961G>C (p.Gly321Arg) c.1075G>C (p.Gly359Arg) | gnomAD v4 |
3 | g.194604397C>T | CA2762548 | TMEM44 | c.1066G>A (p.Gly356Arg) c.1062G>A (p.Pro354=) c.1207G>A (p.Gly403Arg) c.*362G>A (n.*362G>A) c.258G>A (p.Pro86=) c.340G>A (p.Gly114Arg) c.565G>A (p.Gly189Arg) n.112G>A n.830G>A c.1216G>A (p.Gly406Arg) c.1153G>A (p.Gly385Arg) c.1264G>A (p.Gly422Arg) c.1132G>A (p.Gly378Arg) c.1123G>A (p.Gly375Arg) c.961G>A (p.Gly321Arg) c.1075G>A (p.Gly359Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.194604398G>A | CA2762549 | TMEM44 | c.1065C>T (p.Ala355=) c.1061C>T (p.Pro354Leu) c.1206C>T (p.Ala402=) c.*361C>T (n.*361C>T) c.257C>T (p.Pro86Leu) c.339C>T (p.Ala113=) c.564C>T (p.Ala188=) n.111C>T n.829C>T c.1215C>T (p.Ala405=) c.1152C>T (p.Ala384=) c.1263C>T (p.Ala421=) c.1131C>T (p.Ala377=) c.1122C>T (p.Ala374=) c.960C>T (p.Ala320=) c.1074C>T (p.Ala358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604398G>C | CA355824991 | TMEM44 | c.1065C>G (p.Ala355=) c.1061C>G (p.Pro354Arg) c.1206C>G (p.Ala402=) c.*361C>G (n.*361C>G) c.257C>G (p.Pro86Arg) c.339C>G (p.Ala113=) c.564C>G (p.Ala188=) n.111C>G n.829C>G c.1215C>G (p.Ala405=) c.1152C>G (p.Ala384=) c.1263C>G (p.Ala421=) c.1131C>G (p.Ala377=) c.1122C>G (p.Ala374=) c.960C>G (p.Ala320=) c.1074C>G (p.Ala358=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604398G= | CA1430709365 | TMEM44 | c.1065C= (p.Ala355=) c.1061C= (p.Pro354=) c.1206C= (p.Ala402=) c.*361C= (n.*361C=) c.257C= (p.Pro86=) c.339C= (p.Ala113=) c.564C= (p.Ala188=) n.111C= n.829C= c.1215C= (p.Ala405=) c.1152C= (p.Ala384=) c.1263C= (p.Ala421=) c.1131C= (p.Ala377=) c.1122C= (p.Ala374=) c.960C= (p.Ala320=) c.1074C= (p.Ala358=) | |
3 | g.194604398G>T | CA355824990 | TMEM44 | c.1065C>A (p.Ala355=) c.1061C>A (p.Pro354Gln) c.1206C>A (p.Ala402=) c.*361C>A (n.*361C>A) c.257C>A (p.Pro86Gln) c.339C>A (p.Ala113=) c.564C>A (p.Ala188=) n.111C>A n.829C>A c.1215C>A (p.Ala405=) c.1152C>A (p.Ala384=) c.1263C>A (p.Ala421=) c.1131C>A (p.Ala377=) c.1122C>A (p.Ala374=) c.960C>A (p.Ala320=) c.1074C>A (p.Ala358=) | gnomAD v4 |
3 | g.194604399G>A | CA355824992 | TMEM44 | c.1064C>T (p.Ala355Val) c.1060C>T (p.Pro354Ser) c.1205C>T (p.Ala402Val) c.*360C>T (n.*360C>T) c.256C>T (p.Pro86Ser) c.338C>T (p.Ala113Val) c.563C>T (p.Ala188Val) n.110C>T n.828C>T c.1214C>T (p.Ala405Val) c.1151C>T (p.Ala384Val) c.1262C>T (p.Ala421Val) c.1130C>T (p.Ala377Val) c.1121C>T (p.Ala374Val) c.959C>T (p.Ala320Val) c.1073C>T (p.Ala358Val) | |
3 | g.194604399G>C | CA355824993 | TMEM44 | c.1064C>G (p.Ala355Gly) c.1060C>G (p.Pro354Ala) c.1205C>G (p.Ala402Gly) c.*360C>G (n.*360C>G) c.256C>G (p.Pro86Ala) c.338C>G (p.Ala113Gly) c.563C>G (p.Ala188Gly) n.110C>G n.828C>G c.1214C>G (p.Ala405Gly) c.1151C>G (p.Ala384Gly) c.1262C>G (p.Ala421Gly) c.1130C>G (p.Ala377Gly) c.1121C>G (p.Ala374Gly) c.959C>G (p.Ala320Gly) c.1073C>G (p.Ala358Gly) | |
3 | g.194604399G>T | CA355824994 | TMEM44 | c.1064C>A (p.Ala355Asp) c.1060C>A (p.Pro354Thr) c.1205C>A (p.Ala402Asp) c.*360C>A (n.*360C>A) c.256C>A (p.Pro86Thr) c.338C>A (p.Ala113Asp) c.563C>A (p.Ala188Asp) n.110C>A n.828C>A c.1214C>A (p.Ala405Asp) c.1151C>A (p.Ala384Asp) c.1262C>A (p.Ala421Asp) c.1130C>A (p.Ala377Asp) c.1121C>A (p.Ala374Asp) c.959C>A (p.Ala320Asp) c.1073C>A (p.Ala358Asp) | |
3 | g.194604400C>A | CA355824995 | TMEM44 | c.1063G>T (p.Ala355Ser) c.1059G>T (p.Ala353=) c.1204G>T (p.Ala402Ser) c.*359G>T (n.*359G>T) c.255G>T (p.Ala85=) c.337G>T (p.Ala113Ser) c.562G>T (p.Ala188Ser) n.109G>T n.827G>T c.1213G>T (p.Ala405Ser) c.1150G>T (p.Ala384Ser) c.1261G>T (p.Ala421Ser) c.1129G>T (p.Ala377Ser) c.1120G>T (p.Ala374Ser) c.958G>T (p.Ala320Ser) c.1072G>T (p.Ala358Ser) | gnomAD v4 |
3 | g.194604400C= | CA1430709368 | TMEM44 | c.1063G= (p.Ala355=) c.1059G= (p.Ala353=) c.1204G= (p.Ala402=) c.*359G= (n.*359G=) c.255G= (p.Ala85=) c.337G= (p.Ala113=) c.562G= (p.Ala188=) n.109G= n.827G= c.1213G= (p.Ala405=) c.1150G= (p.Ala384=) c.1261G= (p.Ala421=) c.1129G= (p.Ala377=) c.1120G= (p.Ala374=) c.958G= (p.Ala320=) c.1072G= (p.Ala358=) | |
3 | g.194604400C>G | CA355824996 | TMEM44 | c.1063G>C (p.Ala355Pro) c.1059G>C (p.Ala353=) c.1204G>C (p.Ala402Pro) c.*359G>C (n.*359G>C) c.255G>C (p.Ala85=) c.337G>C (p.Ala113Pro) c.562G>C (p.Ala188Pro) n.109G>C n.827G>C c.1213G>C (p.Ala405Pro) c.1150G>C (p.Ala384Pro) c.1261G>C (p.Ala421Pro) c.1129G>C (p.Ala377Pro) c.1120G>C (p.Ala374Pro) c.958G>C (p.Ala320Pro) c.1072G>C (p.Ala358Pro) | dbSNP gnomAD v4 |
3 | g.194604400C>T | CA2762550 | TMEM44 | c.1063G>A (p.Ala355Thr) c.1059G>A (p.Ala353=) c.1204G>A (p.Ala402Thr) c.*359G>A (n.*359G>A) c.255G>A (p.Ala85=) c.337G>A (p.Ala113Thr) c.562G>A (p.Ala188Thr) n.109G>A n.827G>A c.1213G>A (p.Ala405Thr) c.1150G>A (p.Ala384Thr) c.1261G>A (p.Ala421Thr) c.1129G>A (p.Ala377Thr) c.1120G>A (p.Ala374Thr) c.958G>A (p.Ala320Thr) c.1072G>A (p.Ala358Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604401G>A | CA90641467 | TMEM44 | c.1062C>T (p.Ser354=) c.1058C>T (p.Ala353Val) c.1203C>T (p.Ser401=) c.*358C>T (n.*358C>T) c.254C>T (p.Ala85Val) c.336C>T (p.Ser112=) c.561C>T (p.Ser187=) n.108C>T n.826C>T c.1212C>T (p.Ser404=) c.1149C>T (p.Ser383=) c.1260C>T (p.Ser420=) c.1128C>T (p.Ser376=) c.1119C>T (p.Ser373=) c.957C>T (p.Ser319=) c.1071C>T (p.Ser357=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604401G>C | CA355824997 | TMEM44 | c.1062C>G (p.Ser354Arg) c.1058C>G (p.Ala353Gly) c.1203C>G (p.Ser401Arg) c.*358C>G (n.*358C>G) c.254C>G (p.Ala85Gly) c.336C>G (p.Ser112Arg) c.561C>G (p.Ser187Arg) n.108C>G n.826C>G c.1212C>G (p.Ser404Arg) c.1149C>G (p.Ser383Arg) c.1260C>G (p.Ser420Arg) c.1128C>G (p.Ser376Arg) c.1119C>G (p.Ser373Arg) c.957C>G (p.Ser319Arg) c.1071C>G (p.Ser357Arg) | gnomAD v4 |
3 | g.194604401G= | CA1430709372 | TMEM44 | c.1062C= (p.Ser354=) c.1058C= (p.Ala353=) c.1203C= (p.Ser401=) c.*358C= (n.*358C=) c.254C= (p.Ala85=) c.336C= (p.Ser112=) c.561C= (p.Ser187=) n.108C= n.826C= c.1212C= (p.Ser404=) c.1149C= (p.Ser383=) c.1260C= (p.Ser420=) c.1128C= (p.Ser376=) c.1119C= (p.Ser373=) c.957C= (p.Ser319=) c.1071C= (p.Ser357=) | |
3 | g.194604401G>T | CA355824998 | TMEM44 | c.1062C>A (p.Ser354Arg) c.1058C>A (p.Ala353Glu) c.1203C>A (p.Ser401Arg) c.*358C>A (n.*358C>A) c.254C>A (p.Ala85Glu) c.336C>A (p.Ser112Arg) c.561C>A (p.Ser187Arg) n.108C>A n.826C>A c.1212C>A (p.Ser404Arg) c.1149C>A (p.Ser383Arg) c.1260C>A (p.Ser420Arg) c.1128C>A (p.Ser376Arg) c.1119C>A (p.Ser373Arg) c.957C>A (p.Ser319Arg) c.1071C>A (p.Ser357Arg) | gnomAD v4 |
3 | g.194604402C>A | CA355825000 | TMEM44 | c.1061G>T (p.Ser354Ile) c.1057G>T (p.Ala353Ser) c.1202G>T (p.Ser401Ile) c.*357G>T (n.*357G>T) c.253G>T (p.Ala85Ser) c.335G>T (p.Ser112Ile) c.560G>T (p.Ser187Ile) n.107G>T n.825G>T c.1211G>T (p.Ser404Ile) c.1148G>T (p.Ser383Ile) c.1259G>T (p.Ser420Ile) c.1127G>T (p.Ser376Ile) c.1118G>T (p.Ser373Ile) c.956G>T (p.Ser319Ile) c.1070G>T (p.Ser357Ile) | gnomAD v4 |
3 | g.194604402C>G | CA355825001 | TMEM44 | c.1061G>C (p.Ser354Thr) c.1057G>C (p.Ala353Pro) c.1202G>C (p.Ser401Thr) c.*357G>C (n.*357G>C) c.253G>C (p.Ala85Pro) c.335G>C (p.Ser112Thr) c.560G>C (p.Ser187Thr) n.107G>C n.825G>C c.1211G>C (p.Ser404Thr) c.1148G>C (p.Ser383Thr) c.1259G>C (p.Ser420Thr) c.1127G>C (p.Ser376Thr) c.1118G>C (p.Ser373Thr) c.956G>C (p.Ser319Thr) c.1070G>C (p.Ser357Thr) | |
3 | g.194604402C>T | CA355825002 | TMEM44 | c.1061G>A (p.Ser354Asn) c.1057G>A (p.Ala353Thr) c.1202G>A (p.Ser401Asn) c.*357G>A (n.*357G>A) c.253G>A (p.Ala85Thr) c.335G>A (p.Ser112Asn) c.560G>A (p.Ser187Asn) n.107G>A n.825G>A c.1211G>A (p.Ser404Asn) c.1148G>A (p.Ser383Asn) c.1259G>A (p.Ser420Asn) c.1127G>A (p.Ser376Asn) c.1118G>A (p.Ser373Asn) c.956G>A (p.Ser319Asn) c.1070G>A (p.Ser357Asn) | |
3 | g.194604403T>A | CA355825003 | TMEM44 | c.1060A>T (p.Ser354Cys) c.1056A>T (p.Arg352=) c.1201A>T (p.Ser401Cys) c.*356A>T (n.*356A>T) c.252A>T (p.Arg84=) c.334A>T (p.Ser112Cys) c.559A>T (p.Ser187Cys) n.106A>T n.824A>T c.1210A>T (p.Ser404Cys) c.1147A>T (p.Ser383Cys) c.1258A>T (p.Ser420Cys) c.1126A>T (p.Ser376Cys) c.1117A>T (p.Ser373Cys) c.955A>T (p.Ser319Cys) c.1069A>T (p.Ser357Cys) | |
3 | g.194604403T>C | CA355825004 | TMEM44 | c.1060A>G (p.Ser354Gly) c.1056A>G (p.Arg352=) c.1201A>G (p.Ser401Gly) c.*356A>G (n.*356A>G) c.252A>G (p.Arg84=) c.334A>G (p.Ser112Gly) c.559A>G (p.Ser187Gly) n.106A>G n.824A>G c.1210A>G (p.Ser404Gly) c.1147A>G (p.Ser383Gly) c.1258A>G (p.Ser420Gly) c.1126A>G (p.Ser376Gly) c.1117A>G (p.Ser373Gly) c.955A>G (p.Ser319Gly) c.1069A>G (p.Ser357Gly) | gnomAD v4 |
3 | g.194604403T>G | CA355825005 | TMEM44 | c.1060A>C (p.Ser354Arg) c.1056A>C (p.Arg352=) c.1201A>C (p.Ser401Arg) c.*356A>C (n.*356A>C) c.252A>C (p.Arg84=) c.334A>C (p.Ser112Arg) c.559A>C (p.Ser187Arg) n.106A>C n.824A>C c.1210A>C (p.Ser404Arg) c.1147A>C (p.Ser383Arg) c.1258A>C (p.Ser420Arg) c.1126A>C (p.Ser376Arg) c.1117A>C (p.Ser373Arg) c.955A>C (p.Ser319Arg) c.1069A>C (p.Ser357Arg) | |
3 | g.194604404C>A | CA355825006 | TMEM44 | c.1059G>T (p.Thr353=) c.1055G>T (p.Arg352Leu) c.1200G>T (p.Thr400=) c.*355G>T (n.*355G>T) c.251G>T (p.Arg84Leu) c.333G>T (p.Thr111=) c.558G>T (p.Thr186=) n.105G>T n.823G>T c.1209G>T (p.Thr403=) c.1146G>T (p.Thr382=) c.1257G>T (p.Thr419=) c.1125G>T (p.Thr375=) c.1116G>T (p.Thr372=) c.954G>T (p.Thr318=) c.1068G>T (p.Thr356=) | gnomAD v4 |
3 | g.194604404C= | CA1430709376 | TMEM44 | c.1059G= (p.Thr353=) c.1055G= (p.Arg352=) c.1200G= (p.Thr400=) c.*355G= (n.*355G=) c.251G= (p.Arg84=) c.333G= (p.Thr111=) c.558G= (p.Thr186=) n.105G= n.823G= c.1209G= (p.Thr403=) c.1146G= (p.Thr382=) c.1257G= (p.Thr419=) c.1125G= (p.Thr375=) c.1116G= (p.Thr372=) c.954G= (p.Thr318=) c.1068G= (p.Thr356=) | |
3 | g.194604404C>G | CA355825007 | TMEM44 | c.1059G>C (p.Thr353=) c.1055G>C (p.Arg352Pro) c.1200G>C (p.Thr400=) c.*355G>C (n.*355G>C) c.251G>C (p.Arg84Pro) c.333G>C (p.Thr111=) c.558G>C (p.Thr186=) n.105G>C n.823G>C c.1209G>C (p.Thr403=) c.1146G>C (p.Thr382=) c.1257G>C (p.Thr419=) c.1125G>C (p.Thr375=) c.1116G>C (p.Thr372=) c.954G>C (p.Thr318=) c.1068G>C (p.Thr356=) | |
3 | g.194604404C>T | CA2762551 | TMEM44 | c.1059G>A (p.Thr353=) c.1055G>A (p.Arg352Gln) c.1200G>A (p.Thr400=) c.*355G>A (n.*355G>A) c.251G>A (p.Arg84Gln) c.333G>A (p.Thr111=) c.558G>A (p.Thr186=) n.105G>A n.823G>A c.1209G>A (p.Thr403=) c.1146G>A (p.Thr382=) c.1257G>A (p.Thr419=) c.1125G>A (p.Thr375=) c.1116G>A (p.Thr372=) c.954G>A (p.Thr318=) c.1068G>A (p.Thr356=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604405G>A | CA2762552 | TMEM44 | c.1058C>T (p.Thr353Met) c.1054C>T (p.Arg352Ter) c.1199C>T (p.Thr400Met) c.*354C>T (n.*354C>T) c.250C>T (p.Arg84Ter) c.332C>T (p.Thr111Met) c.557C>T (p.Thr186Met) n.104C>T n.822C>T c.1208C>T (p.Thr403Met) c.1145C>T (p.Thr382Met) c.1256C>T (p.Thr419Met) c.1124C>T (p.Thr375Met) c.1115C>T (p.Thr372Met) c.953C>T (p.Thr318Met) c.1067C>T (p.Thr356Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.194604405G>C | CA355825008 | TMEM44 | c.1058C>G (p.Thr353Arg) c.1054C>G (p.Arg352Gly) c.1199C>G (p.Thr400Arg) c.*354C>G (n.*354C>G) c.250C>G (p.Arg84Gly) c.332C>G (p.Thr111Arg) c.557C>G (p.Thr186Arg) n.104C>G n.822C>G c.1208C>G (p.Thr403Arg) c.1145C>G (p.Thr382Arg) c.1256C>G (p.Thr419Arg) c.1124C>G (p.Thr375Arg) c.1115C>G (p.Thr372Arg) c.953C>G (p.Thr318Arg) c.1067C>G (p.Thr356Arg) | |
3 | g.194604405G= | CA1430709379 | TMEM44 | c.1058C= (p.Thr353=) c.1054C= (p.Arg352=) c.1199C= (p.Thr400=) c.*354C= (n.*354C=) c.250C= (p.Arg84=) c.332C= (p.Thr111=) c.557C= (p.Thr186=) n.104C= n.822C= c.1208C= (p.Thr403=) c.1145C= (p.Thr382=) c.1256C= (p.Thr419=) c.1124C= (p.Thr375=) c.1115C= (p.Thr372=) c.953C= (p.Thr318=) c.1067C= (p.Thr356=) | |
3 | g.194604405G>T | CA355825009 | TMEM44 | c.1058C>A (p.Thr353Lys) c.1054C>A (p.Arg352=) c.1199C>A (p.Thr400Lys) c.*354C>A (n.*354C>A) c.250C>A (p.Arg84=) c.332C>A (p.Thr111Lys) c.557C>A (p.Thr186Lys) n.104C>A n.822C>A c.1208C>A (p.Thr403Lys) c.1145C>A (p.Thr382Lys) c.1256C>A (p.Thr419Lys) c.1124C>A (p.Thr375Lys) c.1115C>A (p.Thr372Lys) c.953C>A (p.Thr318Lys) c.1067C>A (p.Thr356Lys) | gnomAD v4 |
3 | g.194604406T>A | CA355825010 | TMEM44 | c.1057A>T (p.Thr353Ser) c.1053A>T (p.Arg351Ser) c.1198A>T (p.Thr400Ser) c.*353A>T (n.*353A>T) c.249A>T (p.Arg83Ser) c.331A>T (p.Thr111Ser) c.556A>T (p.Thr186Ser) n.103A>T n.821A>T c.1207A>T (p.Thr403Ser) c.1144A>T (p.Thr382Ser) c.1255A>T (p.Thr419Ser) c.1123A>T (p.Thr375Ser) c.1114A>T (p.Thr372Ser) c.952A>T (p.Thr318Ser) c.1066A>T (p.Thr356Ser) | |
3 | g.194604406T>C | CA355825012 | TMEM44 | c.1057A>G (p.Thr353Ala) c.1053A>G (p.Arg351=) c.1198A>G (p.Thr400Ala) c.*353A>G (n.*353A>G) c.249A>G (p.Arg83=) c.331A>G (p.Thr111Ala) c.556A>G (p.Thr186Ala) n.103A>G n.821A>G c.1207A>G (p.Thr403Ala) c.1144A>G (p.Thr382Ala) c.1255A>G (p.Thr419Ala) c.1123A>G (p.Thr375Ala) c.1114A>G (p.Thr372Ala) c.952A>G (p.Thr318Ala) c.1066A>G (p.Thr356Ala) | gnomAD v4 |
3 | g.194604406T>G | CA355825011 | TMEM44 | c.1057A>C (p.Thr353Pro) c.1053A>C (p.Arg351Ser) c.1198A>C (p.Thr400Pro) c.*353A>C (n.*353A>C) c.249A>C (p.Arg83Ser) c.331A>C (p.Thr111Pro) c.556A>C (p.Thr186Pro) n.103A>C n.821A>C c.1207A>C (p.Thr403Pro) c.1144A>C (p.Thr382Pro) c.1255A>C (p.Thr419Pro) c.1123A>C (p.Thr375Pro) c.1114A>C (p.Thr372Pro) c.952A>C (p.Thr318Pro) c.1066A>C (p.Thr356Pro) | |
3 | g.194604407C>A | CA355825013 | TMEM44 | c.1056G>T (p.Gln352His) c.1052G>T (p.Arg351Ile) c.1197G>T (p.Gln399His) c.*352G>T (n.*352G>T) c.248G>T (p.Arg83Ile) c.330G>T (p.Gln110His) c.555G>T (p.Gln185His) n.102G>T n.820G>T c.1206G>T (p.Gln402His) c.1143G>T (p.Gln381His) c.1254G>T (p.Gln418His) c.1122G>T (p.Gln374His) c.1113G>T (p.Gln371His) c.951G>T (p.Gln317His) c.1065G>T (p.Gln355His) | gnomAD v4 |
3 | g.194604407C= | CA1430709382 | TMEM44 | c.1056G= (p.Gln352=) c.1052G= (p.Arg351=) c.1197G= (p.Gln399=) c.*352G= (n.*352G=) c.248G= (p.Arg83=) c.330G= (p.Gln110=) c.555G= (p.Gln185=) n.102G= n.820G= c.1206G= (p.Gln402=) c.1143G= (p.Gln381=) c.1254G= (p.Gln418=) c.1122G= (p.Gln374=) c.1113G= (p.Gln371=) c.951G= (p.Gln317=) c.1065G= (p.Gln355=) | |
3 | g.194604407C>G | CA355825014 | TMEM44 | c.1056G>C (p.Gln352His) c.1052G>C (p.Arg351Thr) c.1197G>C (p.Gln399His) c.*352G>C (n.*352G>C) c.248G>C (p.Arg83Thr) c.330G>C (p.Gln110His) c.555G>C (p.Gln185His) n.102G>C n.820G>C c.1206G>C (p.Gln402His) c.1143G>C (p.Gln381His) c.1254G>C (p.Gln418His) c.1122G>C (p.Gln374His) c.1113G>C (p.Gln371His) c.951G>C (p.Gln317His) c.1065G>C (p.Gln355His) | gnomAD v4 |
3 | g.194604407C>T | CA355825015 | TMEM44 | c.1056G>A (p.Gln352=) c.1052G>A (p.Arg351Lys) c.1197G>A (p.Gln399=) c.*352G>A (n.*352G>A) c.248G>A (p.Arg83Lys) c.330G>A (p.Gln110=) c.555G>A (p.Gln185=) n.102G>A n.820G>A c.1206G>A (p.Gln402=) c.1143G>A (p.Gln381=) c.1254G>A (p.Gln418=) c.1122G>A (p.Gln374=) c.1113G>A (p.Gln371=) c.951G>A (p.Gln317=) c.1065G>A (p.Gln355=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604408T>A | CA355825016 | TMEM44 | c.1055A>T (p.Gln352Leu) c.1051A>T (p.Arg351Ter) c.1196A>T (p.Gln399Leu) c.*351A>T (n.*351A>T) c.247A>T (p.Arg83Ter) c.329A>T (p.Gln110Leu) c.554A>T (p.Gln185Leu) n.101A>T n.819A>T c.1205A>T (p.Gln402Leu) c.1142A>T (p.Gln381Leu) c.1253A>T (p.Gln418Leu) c.1121A>T (p.Gln374Leu) c.1112A>T (p.Gln371Leu) c.950A>T (p.Gln317Leu) c.1064A>T (p.Gln355Leu) | gnomAD v4 |
3 | g.194604408T>C | CA355825017 | TMEM44 | c.1055A>G (p.Gln352Arg) c.1051A>G (p.Arg351Gly) c.1196A>G (p.Gln399Arg) c.*351A>G (n.*351A>G) c.247A>G (p.Arg83Gly) c.329A>G (p.Gln110Arg) c.554A>G (p.Gln185Arg) n.101A>G n.819A>G c.1205A>G (p.Gln402Arg) c.1142A>G (p.Gln381Arg) c.1253A>G (p.Gln418Arg) c.1121A>G (p.Gln374Arg) c.1112A>G (p.Gln371Arg) c.950A>G (p.Gln317Arg) c.1064A>G (p.Gln355Arg) | gnomAD v4 |
3 | g.194604408T>G | CA355825018 | TMEM44 | c.1055A>C (p.Gln352Pro) c.1051A>C (p.Arg351=) c.1196A>C (p.Gln399Pro) c.*351A>C (n.*351A>C) c.247A>C (p.Arg83=) c.329A>C (p.Gln110Pro) c.554A>C (p.Gln185Pro) n.101A>C n.819A>C c.1205A>C (p.Gln402Pro) c.1142A>C (p.Gln381Pro) c.1253A>C (p.Gln418Pro) c.1121A>C (p.Gln374Pro) c.1112A>C (p.Gln371Pro) c.950A>C (p.Gln317Pro) c.1064A>C (p.Gln355Pro) | |
3 | g.194604409G>A | CA355825019 | TMEM44 | c.1054C>T (p.Gln352Ter) c.1050C>T (p.Gly350=) c.1195C>T (p.Gln399Ter) c.*350C>T (n.*350C>T) c.246C>T (p.Gly82=) c.328C>T (p.Gln110Ter) c.553C>T (p.Gln185Ter) n.100C>T n.818C>T c.1204C>T (p.Gln402Ter) c.1141C>T (p.Gln381Ter) c.1252C>T (p.Gln418Ter) c.1120C>T (p.Gln374Ter) c.1111C>T (p.Gln371Ter) c.949C>T (p.Gln317Ter) c.1063C>T (p.Gln355Ter) | gnomAD v4 |
3 | g.194604409G>C | CA355825020 | TMEM44 | c.1054C>G (p.Gln352Glu) c.1050C>G (p.Gly350=) c.1195C>G (p.Gln399Glu) c.*350C>G (n.*350C>G) c.246C>G (p.Gly82=) c.328C>G (p.Gln110Glu) c.553C>G (p.Gln185Glu) n.100C>G n.818C>G c.1204C>G (p.Gln402Glu) c.1141C>G (p.Gln381Glu) c.1252C>G (p.Gln418Glu) c.1120C>G (p.Gln374Glu) c.1111C>G (p.Gln371Glu) c.949C>G (p.Gln317Glu) c.1063C>G (p.Gln355Glu) | |
3 | g.194604409G>T | CA355825021 | TMEM44 | c.1054C>A (p.Gln352Lys) c.1050C>A (p.Gly350=) c.1195C>A (p.Gln399Lys) c.*350C>A (n.*350C>A) c.246C>A (p.Gly82=) c.328C>A (p.Gln110Lys) c.553C>A (p.Gln185Lys) n.100C>A n.818C>A c.1204C>A (p.Gln402Lys) c.1141C>A (p.Gln381Lys) c.1252C>A (p.Gln418Lys) c.1120C>A (p.Gln374Lys) c.1111C>A (p.Gln371Lys) c.949C>A (p.Gln317Lys) c.1063C>A (p.Gln355Lys) | gnomAD v4 |
3 | g.194604410C>A | CA355825022 | TMEM44 | c.1053G>T (p.Gly351=) c.1049G>T (p.Gly350Val) c.1194G>T (p.Gly398=) c.*349G>T (n.*349G>T) c.245G>T (p.Gly82Val) c.327G>T (p.Gly109=) c.552G>T (p.Gly184=) n.99G>T n.817G>T c.1203G>T (p.Gly401=) c.1140G>T (p.Gly380=) c.1251G>T (p.Gly417=) c.1119G>T (p.Gly373=) c.1110G>T (p.Gly370=) c.948G>T (p.Gly316=) c.1062G>T (p.Gly354=) | gnomAD v4 |
3 | g.194604410C>G | CA355825023 | TMEM44 | c.1053G>C (p.Gly351=) c.1049G>C (p.Gly350Ala) c.1194G>C (p.Gly398=) c.*349G>C (n.*349G>C) c.245G>C (p.Gly82Ala) c.327G>C (p.Gly109=) c.552G>C (p.Gly184=) n.99G>C n.817G>C c.1203G>C (p.Gly401=) c.1140G>C (p.Gly380=) c.1251G>C (p.Gly417=) c.1119G>C (p.Gly373=) c.1110G>C (p.Gly370=) c.948G>C (p.Gly316=) c.1062G>C (p.Gly354=) | |
3 | g.194604410C>T | CA355825024 | TMEM44 | c.1053G>A (p.Gly351=) c.1049G>A (p.Gly350Asp) c.1194G>A (p.Gly398=) c.*349G>A (n.*349G>A) c.245G>A (p.Gly82Asp) c.327G>A (p.Gly109=) c.552G>A (p.Gly184=) n.99G>A n.817G>A c.1203G>A (p.Gly401=) c.1140G>A (p.Gly380=) c.1251G>A (p.Gly417=) c.1119G>A (p.Gly373=) c.1110G>A (p.Gly370=) c.948G>A (p.Gly316=) c.1062G>A (p.Gly354=) | dbSNP gnomAD v4 |
3 | g.194604412dup | CA2669137842 | TMEM44 | c.1053dup (p.Gln352AlafsTer?) c.1049dup (p.Arg351GlnfsTer?) c.1194dup (p.Gln399AlafsTer?) c.*349dup (n.*349dup) c.245dup (p.Arg83GlnfsTer?) c.327dup (p.Gln110AlafsTer?) c.552dup (p.Gln185AlafsTer?) n.99dup n.817dup c.1203dup (p.Gln402AlafsTer?) c.1140dup (p.Gln381AlafsTer?) c.1251dup (p.Gln418AlafsTer?) c.1119dup (p.Gln374AlafsTer?) c.1110dup (p.Gln371AlafsTer?) c.948dup (p.Gln317AlafsTer?) c.1062dup (p.Gln355AlafsTer?) | gnomAD v4 |
3 | g.194604411C>A | CA355825027 | TMEM44 | c.1052G>T (p.Gly351Val) c.1048G>T (p.Gly350Cys) c.1193G>T (p.Gly398Val) c.*348G>T (n.*348G>T) c.244G>T (p.Gly82Cys) c.326G>T (p.Gly109Val) c.551G>T (p.Gly184Val) n.98G>T n.816G>T c.1202G>T (p.Gly401Val) c.1139G>T (p.Gly380Val) c.1250G>T (p.Gly417Val) c.1118G>T (p.Gly373Val) c.1109G>T (p.Gly370Val) c.947G>T (p.Gly316Val) c.1061G>T (p.Gly354Val) | gnomAD v4 |
3 | g.194604411C>G | CA355825025 | TMEM44 | c.1052G>C (p.Gly351Ala) c.1048G>C (p.Gly350Arg) c.1193G>C (p.Gly398Ala) c.*348G>C (n.*348G>C) c.244G>C (p.Gly82Arg) c.326G>C (p.Gly109Ala) c.551G>C (p.Gly184Ala) n.98G>C n.816G>C c.1202G>C (p.Gly401Ala) c.1139G>C (p.Gly380Ala) c.1250G>C (p.Gly417Ala) c.1118G>C (p.Gly373Ala) c.1109G>C (p.Gly370Ala) c.947G>C (p.Gly316Ala) c.1061G>C (p.Gly354Ala) | |
3 | g.194604411C>T | CA355825026 | TMEM44 | c.1052G>A (p.Gly351Glu) c.1048G>A (p.Gly350Ser) c.1193G>A (p.Gly398Glu) c.*348G>A (n.*348G>A) c.244G>A (p.Gly82Ser) c.326G>A (p.Gly109Glu) c.551G>A (p.Gly184Glu) n.98G>A n.816G>A c.1202G>A (p.Gly401Glu) c.1139G>A (p.Gly380Glu) c.1250G>A (p.Gly417Glu) c.1118G>A (p.Gly373Glu) c.1109G>A (p.Gly370Glu) c.947G>A (p.Gly316Glu) c.1061G>A (p.Gly354Glu) | gnomAD v4 |
3 | g.194604412C>A | CA355825028 | TMEM44 | c.1051G>T (p.Gly351Trp) c.1047G>T (p.Thr349=) c.1192G>T (p.Gly398Trp) c.*347G>T (n.*347G>T) c.243G>T (p.Thr81=) c.325G>T (p.Gly109Trp) c.550G>T (p.Gly184Trp) n.97G>T n.815G>T c.1201G>T (p.Gly401Trp) c.1138G>T (p.Gly380Trp) c.1249G>T (p.Gly417Trp) c.1117G>T (p.Gly373Trp) c.1108G>T (p.Gly370Trp) c.946G>T (p.Gly316Trp) c.1060G>T (p.Gly354Trp) | gnomAD v4 COSMIC COSMIC |
3 | g.194604412C= | CA1430709385 | TMEM44 | c.1051G= (p.Gly351=) c.1047G= (p.Thr349=) c.1192G= (p.Gly398=) c.*347G= (n.*347G=) c.243G= (p.Thr81=) c.325G= (p.Gly109=) c.550G= (p.Gly184=) n.97G= n.815G= c.1201G= (p.Gly401=) c.1138G= (p.Gly380=) c.1249G= (p.Gly417=) c.1117G= (p.Gly373=) c.1108G= (p.Gly370=) c.946G= (p.Gly316=) c.1060G= (p.Gly354=) | |
3 | g.194604412C>G | CA355825029 | TMEM44 | c.1051G>C (p.Gly351Arg) c.1047G>C (p.Thr349=) c.1192G>C (p.Gly398Arg) c.*347G>C (n.*347G>C) c.243G>C (p.Thr81=) c.325G>C (p.Gly109Arg) c.550G>C (p.Gly184Arg) n.97G>C n.815G>C c.1201G>C (p.Gly401Arg) c.1138G>C (p.Gly380Arg) c.1249G>C (p.Gly417Arg) c.1117G>C (p.Gly373Arg) c.1108G>C (p.Gly370Arg) c.946G>C (p.Gly316Arg) c.1060G>C (p.Gly354Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604412C>T | CA90641492 | TMEM44 | c.1051G>A (p.Gly351Arg) c.1047G>A (p.Thr349=) c.1192G>A (p.Gly398Arg) c.*347G>A (n.*347G>A) c.243G>A (p.Thr81=) c.325G>A (p.Gly109Arg) c.550G>A (p.Gly184Arg) n.97G>A n.815G>A c.1201G>A (p.Gly401Arg) c.1138G>A (p.Gly380Arg) c.1249G>A (p.Gly417Arg) c.1117G>A (p.Gly373Arg) c.1108G>A (p.Gly370Arg) c.946G>A (p.Gly316Arg) c.1060G>A (p.Gly354Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604413G>A | CA2762553 | TMEM44 | c.1050C>T (p.Asp350=) c.1046C>T (p.Thr349Met) c.1191C>T (p.Asp397=) c.*346C>T (n.*346C>T) c.242C>T (p.Thr81Met) c.324C>T (p.Asp108=) c.549C>T (p.Asp183=) n.96C>T n.814C>T c.1200C>T (p.Asp400=) c.1137C>T (p.Asp379=) c.1248C>T (p.Asp416=) c.1116C>T (p.Asp372=) c.1107C>T (p.Asp369=) c.945C>T (p.Asp315=) c.1059C>T (p.Asp353=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604413G>C | CA355825030 | TMEM44 | c.1050C>G (p.Asp350Glu) c.1046C>G (p.Thr349Arg) c.1191C>G (p.Asp397Glu) c.*346C>G (n.*346C>G) c.242C>G (p.Thr81Arg) c.324C>G (p.Asp108Glu) c.549C>G (p.Asp183Glu) n.96C>G n.814C>G c.1200C>G (p.Asp400Glu) c.1137C>G (p.Asp379Glu) c.1248C>G (p.Asp416Glu) c.1116C>G (p.Asp372Glu) c.1107C>G (p.Asp369Glu) c.945C>G (p.Asp315Glu) c.1059C>G (p.Asp353Glu) | |
3 | g.194604413G= | CA1430709388 | TMEM44 | c.1050C= (p.Asp350=) c.1046C= (p.Thr349=) c.1191C= (p.Asp397=) c.*346C= (n.*346C=) c.242C= (p.Thr81=) c.324C= (p.Asp108=) c.549C= (p.Asp183=) n.96C= n.814C= c.1200C= (p.Asp400=) c.1137C= (p.Asp379=) c.1248C= (p.Asp416=) c.1116C= (p.Asp372=) c.1107C= (p.Asp369=) c.945C= (p.Asp315=) c.1059C= (p.Asp353=) | |
3 | g.194604413G>T | CA355825031 | TMEM44 | c.1050C>A (p.Asp350Glu) c.1046C>A (p.Thr349Lys) c.1191C>A (p.Asp397Glu) c.*346C>A (n.*346C>A) c.242C>A (p.Thr81Lys) c.324C>A (p.Asp108Glu) c.549C>A (p.Asp183Glu) n.96C>A n.814C>A c.1200C>A (p.Asp400Glu) c.1137C>A (p.Asp379Glu) c.1248C>A (p.Asp416Glu) c.1116C>A (p.Asp372Glu) c.1107C>A (p.Asp369Glu) c.945C>A (p.Asp315Glu) c.1059C>A (p.Asp353Glu) | gnomAD v4 |
3 | g.194604414T>A | CA355825032 | TMEM44 | c.1049A>T (p.Asp350Val) c.1045A>T (p.Thr349Ser) c.1190A>T (p.Asp397Val) c.*345A>T (n.*345A>T) c.241A>T (p.Thr81Ser) c.323A>T (p.Asp108Val) c.548A>T (p.Asp183Val) n.95A>T n.813A>T c.1199A>T (p.Asp400Val) c.1136A>T (p.Asp379Val) c.1247A>T (p.Asp416Val) c.1115A>T (p.Asp372Val) c.1106A>T (p.Asp369Val) c.944A>T (p.Asp315Val) c.1058A>T (p.Asp353Val) | |
3 | g.194604414T>C | CA2762554 | TMEM44 | c.1049A>G (p.Asp350Gly) c.1045A>G (p.Thr349Ala) c.1190A>G (p.Asp397Gly) c.*345A>G (n.*345A>G) c.241A>G (p.Thr81Ala) c.323A>G (p.Asp108Gly) c.548A>G (p.Asp183Gly) n.95A>G n.813A>G c.1199A>G (p.Asp400Gly) c.1136A>G (p.Asp379Gly) c.1247A>G (p.Asp416Gly) c.1115A>G (p.Asp372Gly) c.1106A>G (p.Asp369Gly) c.944A>G (p.Asp315Gly) c.1058A>G (p.Asp353Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604414T>G | CA355825033 | TMEM44 | c.1049A>C (p.Asp350Ala) c.1045A>C (p.Thr349Pro) c.1190A>C (p.Asp397Ala) c.*345A>C (n.*345A>C) c.241A>C (p.Thr81Pro) c.323A>C (p.Asp108Ala) c.548A>C (p.Asp183Ala) n.95A>C n.813A>C c.1199A>C (p.Asp400Ala) c.1136A>C (p.Asp379Ala) c.1247A>C (p.Asp416Ala) c.1115A>C (p.Asp372Ala) c.1106A>C (p.Asp369Ala) c.944A>C (p.Asp315Ala) c.1058A>C (p.Asp353Ala) | |
3 | g.194604414T= | CA1430709390 | TMEM44 | c.1049A= (p.Asp350=) c.1045A= (p.Thr349=) c.1190A= (p.Asp397=) c.*345A= (n.*345A=) c.241A= (p.Thr81=) c.323A= (p.Asp108=) c.548A= (p.Asp183=) n.95A= n.813A= c.1199A= (p.Asp400=) c.1136A= (p.Asp379=) c.1247A= (p.Asp416=) c.1115A= (p.Asp372=) c.1106A= (p.Asp369=) c.944A= (p.Asp315=) c.1058A= (p.Asp353=) | |
3 | g.194604415C>A | CA355825034 | TMEM44 | c.1048G>T (p.Asp350Tyr) c.1044G>T (p.Val348=) c.1189G>T (p.Asp397Tyr) c.*344G>T (n.*344G>T) c.240G>T (p.Val80=) c.322G>T (p.Asp108Tyr) c.547G>T (p.Asp183Tyr) n.94G>T n.812G>T c.1198G>T (p.Asp400Tyr) c.1135G>T (p.Asp379Tyr) c.1246G>T (p.Asp416Tyr) c.1114G>T (p.Asp372Tyr) c.1105G>T (p.Asp369Tyr) c.943G>T (p.Asp315Tyr) c.1057G>T (p.Asp353Tyr) | gnomAD v4 |
3 | g.194604415C>G | CA355825035 | TMEM44 | c.1048G>C (p.Asp350His) c.1044G>C (p.Val348=) c.1189G>C (p.Asp397His) c.*344G>C (n.*344G>C) c.240G>C (p.Val80=) c.322G>C (p.Asp108His) c.547G>C (p.Asp183His) n.94G>C n.812G>C c.1198G>C (p.Asp400His) c.1135G>C (p.Asp379His) c.1246G>C (p.Asp416His) c.1114G>C (p.Asp372His) c.1105G>C (p.Asp369His) c.943G>C (p.Asp315His) c.1057G>C (p.Asp353His) | |
3 | g.194604415C>T | CA355825036 | TMEM44 | c.1048G>A (p.Asp350Asn) c.1044G>A (p.Val348=) c.1189G>A (p.Asp397Asn) c.*344G>A (n.*344G>A) c.240G>A (p.Val80=) c.322G>A (p.Asp108Asn) c.547G>A (p.Asp183Asn) n.94G>A n.812G>A c.1198G>A (p.Asp400Asn) c.1135G>A (p.Asp379Asn) c.1246G>A (p.Asp416Asn) c.1114G>A (p.Asp372Asn) c.1105G>A (p.Asp369Asn) c.943G>A (p.Asp315Asn) c.1057G>A (p.Asp353Asn) | gnomAD v4 |
3 | g.194604416A>C | CA355825038 | TMEM44 | c.1047T>G (p.Gly349=) c.1043T>G (p.Val348Gly) c.1188T>G (p.Gly396=) c.*343T>G (n.*343T>G) c.239T>G (p.Val80Gly) c.321T>G (p.Gly107=) c.546T>G (p.Gly182=) n.93T>G n.811T>G c.1197T>G (p.Gly399=) c.1134T>G (p.Gly378=) c.1245T>G (p.Gly415=) c.1113T>G (p.Gly371=) c.1104T>G (p.Gly368=) c.942T>G (p.Gly314=) c.1056T>G (p.Gly352=) | |
3 | g.194604416A>G | CA355825039 | TMEM44 | c.1047T>C (p.Gly349=) c.1043T>C (p.Val348Ala) c.1188T>C (p.Gly396=) c.*343T>C (n.*343T>C) c.239T>C (p.Val80Ala) c.321T>C (p.Gly107=) c.546T>C (p.Gly182=) n.93T>C n.811T>C c.1197T>C (p.Gly399=) c.1134T>C (p.Gly378=) c.1245T>C (p.Gly415=) c.1113T>C (p.Gly371=) c.1104T>C (p.Gly368=) c.942T>C (p.Gly314=) c.1056T>C (p.Gly352=) | gnomAD v4 |
3 | g.194604416A>T | CA355825037 | TMEM44 | c.1047T>A (p.Gly349=) c.1043T>A (p.Val348Glu) c.1188T>A (p.Gly396=) c.*343T>A (n.*343T>A) c.239T>A (p.Val80Glu) c.321T>A (p.Gly107=) c.546T>A (p.Gly182=) n.93T>A n.811T>A c.1197T>A (p.Gly399=) c.1134T>A (p.Gly378=) c.1245T>A (p.Gly415=) c.1113T>A (p.Gly371=) c.1104T>A (p.Gly368=) c.942T>A (p.Gly314=) c.1056T>A (p.Gly352=) | |
3 | g.194604416_194604417delinsAC | CA1430709394 | TMEM44 | c.1046_1047delinsGT (p.Gly349=) c.1042_1043delinsGT (p.Val348=) c.1187_1188delinsGT (p.Gly396=) c.*342_*343delinsGT (n.*342_*343delinsGT) c.238_239delinsGT (p.Val80=) c.320_321delinsGT (p.Gly107=) c.545_546delinsGT (p.Gly182=) n.92_93delinsGT n.810_811delinsGT c.1196_1197delinsGT (p.Gly399=) c.1133_1134delinsGT (p.Gly378=) c.1244_1245delinsGT (p.Gly415=) c.1112_1113delinsGT (p.Gly371=) c.1103_1104delinsGT (p.Gly368=) c.941_942delinsGT (p.Gly314=) c.1055_1056delinsGT (p.Gly352=) | |
3 | g.194604417C>A | CA355825042 | TMEM44 | c.1046G>T (p.Gly349Val) c.1042G>T (p.Val348Leu) c.1187G>T (p.Gly396Val) c.*342G>T (n.*342G>T) c.238G>T (p.Val80Leu) c.320G>T (p.Gly107Val) c.545G>T (p.Gly182Val) n.92G>T n.810G>T c.1196G>T (p.Gly399Val) c.1133G>T (p.Gly378Val) c.1244G>T (p.Gly415Val) c.1112G>T (p.Gly371Val) c.1103G>T (p.Gly368Val) c.941G>T (p.Gly314Val) c.1055G>T (p.Gly352Val) | gnomAD v4 |
3 | g.194604417C>G | CA355825040 | TMEM44 | c.1046G>C (p.Gly349Ala) c.1042G>C (p.Val348Leu) c.1187G>C (p.Gly396Ala) c.*342G>C (n.*342G>C) c.238G>C (p.Val80Leu) c.320G>C (p.Gly107Ala) c.545G>C (p.Gly182Ala) n.92G>C n.810G>C c.1196G>C (p.Gly399Ala) c.1133G>C (p.Gly378Ala) c.1244G>C (p.Gly415Ala) c.1112G>C (p.Gly371Ala) c.1103G>C (p.Gly368Ala) c.941G>C (p.Gly314Ala) c.1055G>C (p.Gly352Ala) | |
3 | g.194604417C>T | CA355825041 | TMEM44 | c.1046G>A (p.Gly349Asp) c.1042G>A (p.Val348Met) c.1187G>A (p.Gly396Asp) c.*342G>A (n.*342G>A) c.238G>A (p.Val80Met) c.320G>A (p.Gly107Asp) c.545G>A (p.Gly182Asp) n.92G>A n.810G>A c.1196G>A (p.Gly399Asp) c.1133G>A (p.Gly378Asp) c.1244G>A (p.Gly415Asp) c.1112G>A (p.Gly371Asp) c.1103G>A (p.Gly368Asp) c.941G>A (p.Gly314Asp) c.1055G>A (p.Gly352Asp) | gnomAD v4 |
3 | g.194604418del | CA548848422 | TMEM44 | c.1046del (p.Gly349ValfsTer?) c.1042del (p.Val348Ter) c.1187del (p.Gly396ValfsTer?) c.*342del (n.*342del) c.238del (p.Val80Ter) c.320del (p.Gly107ValfsTer?) c.545del (p.Gly182ValfsTer?) n.92del n.810del c.1196del (p.Gly399ValfsTer?) c.1133del (p.Gly378ValfsTer?) c.1244del (p.Gly415ValfsTer?) c.1112del (p.Gly371ValfsTer?) c.1103del (p.Gly368ValfsTer?) c.941del (p.Gly314ValfsTer?) c.1055del (p.Gly352ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604418C>A | CA355825043 | TMEM44 | c.1045G>T (p.Gly349Cys) c.1041G>T (p.Gln347His) c.1186G>T (p.Gly396Cys) c.*341G>T (n.*341G>T) c.237G>T (p.Gln79His) c.319G>T (p.Gly107Cys) c.544G>T (p.Gly182Cys) n.91G>T n.809G>T c.1195G>T (p.Gly399Cys) c.1132G>T (p.Gly378Cys) c.1243G>T (p.Gly415Cys) c.1111G>T (p.Gly371Cys) c.1102G>T (p.Gly368Cys) c.940G>T (p.Gly314Cys) c.1054G>T (p.Gly352Cys) | gnomAD v4 |
3 | g.194604418C>G | CA355825044 | TMEM44 | c.1045G>C (p.Gly349Arg) c.1041G>C (p.Gln347His) c.1186G>C (p.Gly396Arg) c.*341G>C (n.*341G>C) c.237G>C (p.Gln79His) c.319G>C (p.Gly107Arg) c.544G>C (p.Gly182Arg) n.91G>C n.809G>C c.1195G>C (p.Gly399Arg) c.1132G>C (p.Gly378Arg) c.1243G>C (p.Gly415Arg) c.1111G>C (p.Gly371Arg) c.1102G>C (p.Gly368Arg) c.940G>C (p.Gly314Arg) c.1054G>C (p.Gly352Arg) | gnomAD v4 |
3 | g.194604418C>T | CA355825045 | TMEM44 | c.1045G>A (p.Gly349Ser) c.1041G>A (p.Gln347=) c.1186G>A (p.Gly396Ser) c.*341G>A (n.*341G>A) c.237G>A (p.Gln79=) c.319G>A (p.Gly107Ser) c.544G>A (p.Gly182Ser) n.91G>A n.809G>A c.1195G>A (p.Gly399Ser) c.1132G>A (p.Gly378Ser) c.1243G>A (p.Gly415Ser) c.1111G>A (p.Gly371Ser) c.1102G>A (p.Gly368Ser) c.940G>A (p.Gly314Ser) c.1054G>A (p.Gly352Ser) | gnomAD v4 |
3 | g.194604419T>A | CA355825048 | TMEM44 | c.1044A>T (p.Pro348=) c.1040A>T (p.Gln347Leu) c.1185A>T (p.Pro395=) c.*340A>T (n.*340A>T) c.236A>T (p.Gln79Leu) c.318A>T (p.Pro106=) c.543A>T (p.Pro181=) n.90A>T n.808A>T c.1194A>T (p.Pro398=) c.1131A>T (p.Pro377=) c.1242A>T (p.Pro414=) c.1110A>T (p.Pro370=) c.1101A>T (p.Pro367=) c.939A>T (p.Pro313=) c.1053A>T (p.Pro351=) | |
3 | g.194604419T>C | CA355825047 | TMEM44 | c.1044A>G (p.Pro348=) c.1040A>G (p.Gln347Arg) c.1185A>G (p.Pro395=) c.*340A>G (n.*340A>G) c.236A>G (p.Gln79Arg) c.318A>G (p.Pro106=) c.543A>G (p.Pro181=) n.90A>G n.808A>G c.1194A>G (p.Pro398=) c.1131A>G (p.Pro377=) c.1242A>G (p.Pro414=) c.1110A>G (p.Pro370=) c.1101A>G (p.Pro367=) c.939A>G (p.Pro313=) c.1053A>G (p.Pro351=) | gnomAD v4 |
3 | g.194604419T>G | CA355825046 | TMEM44 | c.1044A>C (p.Pro348=) c.1040A>C (p.Gln347Pro) c.1185A>C (p.Pro395=) c.*340A>C (n.*340A>C) c.236A>C (p.Gln79Pro) c.318A>C (p.Pro106=) c.543A>C (p.Pro181=) n.90A>C n.808A>C c.1194A>C (p.Pro398=) c.1131A>C (p.Pro377=) c.1242A>C (p.Pro414=) c.1110A>C (p.Pro370=) c.1101A>C (p.Pro367=) c.939A>C (p.Pro313=) c.1053A>C (p.Pro351=) | |
3 | g.194604420G>A | CA355825049 | TMEM44 | c.1043C>T (p.Pro348Leu) c.1039C>T (p.Gln347Ter) c.1184C>T (p.Pro395Leu) c.*339C>T (n.*339C>T) c.235C>T (p.Gln79Ter) c.317C>T (p.Pro106Leu) c.542C>T (p.Pro181Leu) n.89C>T n.807C>T c.1193C>T (p.Pro398Leu) c.1130C>T (p.Pro377Leu) c.1241C>T (p.Pro414Leu) c.1109C>T (p.Pro370Leu) c.1100C>T (p.Pro367Leu) c.938C>T (p.Pro313Leu) c.1052C>T (p.Pro351Leu) | gnomAD v4 |
3 | g.194604420G>C | CA355825050 | TMEM44 | c.1043C>G (p.Pro348Arg) c.1039C>G (p.Gln347Glu) c.1184C>G (p.Pro395Arg) c.*339C>G (n.*339C>G) c.235C>G (p.Gln79Glu) c.317C>G (p.Pro106Arg) c.542C>G (p.Pro181Arg) n.89C>G n.807C>G c.1193C>G (p.Pro398Arg) c.1130C>G (p.Pro377Arg) c.1241C>G (p.Pro414Arg) c.1109C>G (p.Pro370Arg) c.1100C>G (p.Pro367Arg) c.938C>G (p.Pro313Arg) c.1052C>G (p.Pro351Arg) | |
3 | g.194604420G>T | CA355825051 | TMEM44 | c.1043C>A (p.Pro348Gln) c.1039C>A (p.Gln347Lys) c.1184C>A (p.Pro395Gln) c.*339C>A (n.*339C>A) c.235C>A (p.Gln79Lys) c.317C>A (p.Pro106Gln) c.542C>A (p.Pro181Gln) n.89C>A n.807C>A c.1193C>A (p.Pro398Gln) c.1130C>A (p.Pro377Gln) c.1241C>A (p.Pro414Gln) c.1109C>A (p.Pro370Gln) c.1100C>A (p.Pro367Gln) c.938C>A (p.Pro313Gln) c.1052C>A (p.Pro351Gln) | gnomAD v4 |
3 | g.194604421del | CA2759976082 | TMEM44 | c.1043del (p.Pro348GlnfsTer?) c.1039del (p.Gln347ArgfsTer2) c.1184del (p.Pro395GlnfsTer?) c.*339del (n.*339del) c.235del (p.Gln79ArgfsTer2) c.317del (p.Pro106GlnfsTer?) c.542del (p.Pro181GlnfsTer?) n.89del n.807del c.1193del (p.Pro398GlnfsTer?) c.1130del (p.Pro377GlnfsTer?) c.1241del (p.Pro414GlnfsTer?) c.1109del (p.Pro370GlnfsTer?) c.1100del (p.Pro367GlnfsTer?) c.938del (p.Pro313GlnfsTer?) c.1052del (p.Pro351GlnfsTer?) | |
3 | g.194604421G>A | CA90641499 | TMEM44 | c.1042C>T (p.Pro348Ser) c.1038C>T (p.Cys346=) c.1183C>T (p.Pro395Ser) c.*338C>T (n.*338C>T) c.234C>T (p.Cys78=) c.316C>T (p.Pro106Ser) c.541C>T (p.Pro181Ser) n.88C>T n.806C>T c.1192C>T (p.Pro398Ser) c.1129C>T (p.Pro377Ser) c.1240C>T (p.Pro414Ser) c.1108C>T (p.Pro370Ser) c.1099C>T (p.Pro367Ser) c.937C>T (p.Pro313Ser) c.1051C>T (p.Pro351Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604421G>C | CA355825052 | TMEM44 | c.1042C>G (p.Pro348Ala) c.1038C>G (p.Cys346Trp) c.1183C>G (p.Pro395Ala) c.*338C>G (n.*338C>G) c.234C>G (p.Cys78Trp) c.316C>G (p.Pro106Ala) c.541C>G (p.Pro181Ala) n.88C>G n.806C>G c.1192C>G (p.Pro398Ala) c.1129C>G (p.Pro377Ala) c.1240C>G (p.Pro414Ala) c.1108C>G (p.Pro370Ala) c.1099C>G (p.Pro367Ala) c.937C>G (p.Pro313Ala) c.1051C>G (p.Pro351Ala) | |
3 | g.194604421G= | CA1430709396 | TMEM44 | c.1042C= (p.Pro348=) c.1038C= (p.Cys346=) c.1183C= (p.Pro395=) c.*338C= (n.*338C=) c.234C= (p.Cys78=) c.316C= (p.Pro106=) c.541C= (p.Pro181=) n.88C= n.806C= c.1192C= (p.Pro398=) c.1129C= (p.Pro377=) c.1240C= (p.Pro414=) c.1108C= (p.Pro370=) c.1099C= (p.Pro367=) c.937C= (p.Pro313=) c.1051C= (p.Pro351=) | |
3 | g.194604421G>T | CA2762555 | TMEM44 | c.1042C>A (p.Pro348Thr) c.1038C>A (p.Cys346Ter) c.1183C>A (p.Pro395Thr) c.*338C>A (n.*338C>A) c.234C>A (p.Cys78Ter) c.316C>A (p.Pro106Thr) c.541C>A (p.Pro181Thr) n.88C>A n.806C>A c.1192C>A (p.Pro398Thr) c.1129C>A (p.Pro377Thr) c.1240C>A (p.Pro414Thr) c.1108C>A (p.Pro370Thr) c.1099C>A (p.Pro367Thr) c.937C>A (p.Pro313Thr) c.1051C>A (p.Pro351Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604422C>A | CA90641500 | TMEM44 | c.1041G>T (p.Leu347=) c.1037G>T (p.Cys346Phe) c.1182G>T (p.Leu394=) c.*337G>T (n.*337G>T) c.233G>T (p.Cys78Phe) c.315G>T (p.Leu105=) c.540G>T (p.Leu180=) n.87G>T n.805G>T c.1191G>T (p.Leu397=) c.1128G>T (p.Leu376=) c.1239G>T (p.Leu413=) c.1107G>T (p.Leu369=) c.1098G>T (p.Leu366=) c.936G>T (p.Leu312=) c.1050G>T (p.Leu350=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604422C= | CA1430709401 | TMEM44 | c.1041G= (p.Leu347=) c.1037G= (p.Cys346=) c.1182G= (p.Leu394=) c.*337G= (n.*337G=) c.233G= (p.Cys78=) c.315G= (p.Leu105=) c.540G= (p.Leu180=) n.87G= n.805G= c.1191G= (p.Leu397=) c.1128G= (p.Leu376=) c.1239G= (p.Leu413=) c.1107G= (p.Leu369=) c.1098G= (p.Leu366=) c.936G= (p.Leu312=) c.1050G= (p.Leu350=) | |
3 | g.194604422C>G | CA355825054 | TMEM44 | c.1041G>C (p.Leu347=) c.1037G>C (p.Cys346Ser) c.1182G>C (p.Leu394=) c.*337G>C (n.*337G>C) c.233G>C (p.Cys78Ser) c.315G>C (p.Leu105=) c.540G>C (p.Leu180=) n.87G>C n.805G>C c.1191G>C (p.Leu397=) c.1128G>C (p.Leu376=) c.1239G>C (p.Leu413=) c.1107G>C (p.Leu369=) c.1098G>C (p.Leu366=) c.936G>C (p.Leu312=) c.1050G>C (p.Leu350=) | |
3 | g.194604422C>T | CA355825053 | TMEM44 | c.1041G>A (p.Leu347=) c.1037G>A (p.Cys346Tyr) c.1182G>A (p.Leu394=) c.*337G>A (n.*337G>A) c.233G>A (p.Cys78Tyr) c.315G>A (p.Leu105=) c.540G>A (p.Leu180=) n.87G>A n.805G>A c.1191G>A (p.Leu397=) c.1128G>A (p.Leu376=) c.1239G>A (p.Leu413=) c.1107G>A (p.Leu369=) c.1098G>A (p.Leu366=) c.936G>A (p.Leu312=) c.1050G>A (p.Leu350=) | |
3 | g.194604423A>C | CA355825055 | TMEM44 | c.1040T>G (p.Leu347Arg) c.1036T>G (p.Cys346Gly) c.1181T>G (p.Leu394Arg) c.*336T>G (n.*336T>G) c.232T>G (p.Cys78Gly) c.314T>G (p.Leu105Arg) c.539T>G (p.Leu180Arg) n.86T>G n.804T>G c.1190T>G (p.Leu397Arg) c.1127T>G (p.Leu376Arg) c.1238T>G (p.Leu413Arg) c.1106T>G (p.Leu369Arg) c.1097T>G (p.Leu366Arg) c.935T>G (p.Leu312Arg) c.1049T>G (p.Leu350Arg) | |
3 | g.194604423A>G | CA355825056 | TMEM44 | c.1040T>C (p.Leu347Pro) c.1036T>C (p.Cys346Arg) c.1181T>C (p.Leu394Pro) c.*336T>C (n.*336T>C) c.232T>C (p.Cys78Arg) c.314T>C (p.Leu105Pro) c.539T>C (p.Leu180Pro) n.86T>C n.804T>C c.1190T>C (p.Leu397Pro) c.1127T>C (p.Leu376Pro) c.1238T>C (p.Leu413Pro) c.1106T>C (p.Leu369Pro) c.1097T>C (p.Leu366Pro) c.935T>C (p.Leu312Pro) c.1049T>C (p.Leu350Pro) | gnomAD v4 |
3 | g.194604423A>T | CA355825057 | TMEM44 | c.1040T>A (p.Leu347Gln) c.1036T>A (p.Cys346Ser) c.1181T>A (p.Leu394Gln) c.*336T>A (n.*336T>A) c.232T>A (p.Cys78Ser) c.314T>A (p.Leu105Gln) c.539T>A (p.Leu180Gln) n.86T>A n.804T>A c.1190T>A (p.Leu397Gln) c.1127T>A (p.Leu376Gln) c.1238T>A (p.Leu413Gln) c.1106T>A (p.Leu369Gln) c.1097T>A (p.Leu366Gln) c.935T>A (p.Leu312Gln) c.1049T>A (p.Leu350Gln) | |
3 | g.194604424G>A | CA437487691 | TMEM44 | c.1039C>T (p.Leu347=) c.1035C>T (p.Gly345=) c.1180C>T (p.Leu394=) c.*335C>T (n.*335C>T) c.231C>T (p.Gly77=) c.313C>T (p.Leu105=) c.538C>T (p.Leu180=) n.85C>T n.803C>T c.1189C>T (p.Leu397=) c.1126C>T (p.Leu376=) c.1237C>T (p.Leu413=) c.1105C>T (p.Leu369=) c.1096C>T (p.Leu366=) c.934C>T (p.Leu312=) c.1048C>T (p.Leu350=) | |
3 | g.194604424G>C | CA355825058 | TMEM44 | c.1039C>G (p.Leu347Val) c.1035C>G (p.Gly345=) c.1180C>G (p.Leu394Val) c.*335C>G (n.*335C>G) c.231C>G (p.Gly77=) c.313C>G (p.Leu105Val) c.538C>G (p.Leu180Val) n.85C>G n.803C>G c.1189C>G (p.Leu397Val) c.1126C>G (p.Leu376Val) c.1237C>G (p.Leu413Val) c.1105C>G (p.Leu369Val) c.1096C>G (p.Leu366Val) c.934C>G (p.Leu312Val) c.1048C>G (p.Leu350Val) | |
3 | g.194604424G>T | CA355825059 | TMEM44 | c.1039C>A (p.Leu347Met) c.1035C>A (p.Gly345=) c.1180C>A (p.Leu394Met) c.*335C>A (n.*335C>A) c.231C>A (p.Gly77=) c.313C>A (p.Leu105Met) c.538C>A (p.Leu180Met) n.85C>A n.803C>A c.1189C>A (p.Leu397Met) c.1126C>A (p.Leu376Met) c.1237C>A (p.Leu413Met) c.1105C>A (p.Leu369Met) c.1096C>A (p.Leu366Met) c.934C>A (p.Leu312Met) c.1048C>A (p.Leu350Met) | gnomAD v4 |
3 | g.194604425C>A | CA355825060 | TMEM44 | c.1038G>T (p.Arg346Ser) c.1034G>T (p.Gly345Val) c.1179G>T (p.Arg393Ser) c.*334G>T (n.*334G>T) c.230G>T (p.Gly77Val) c.312G>T (p.Arg104Ser) c.537G>T (p.Arg179Ser) n.84G>T n.802G>T c.1188G>T (p.Arg396Ser) c.1125G>T (p.Arg375Ser) c.1236G>T (p.Arg412Ser) c.1104G>T (p.Arg368Ser) c.1095G>T (p.Arg365Ser) c.933G>T (p.Arg311Ser) c.1047G>T (p.Arg349Ser) | gnomAD v4 |
3 | g.194604425C>G | CA355825061 | TMEM44 | c.1038G>C (p.Arg346Ser) c.1034G>C (p.Gly345Ala) c.1179G>C (p.Arg393Ser) c.*334G>C (n.*334G>C) c.230G>C (p.Gly77Ala) c.312G>C (p.Arg104Ser) c.537G>C (p.Arg179Ser) n.84G>C n.802G>C c.1188G>C (p.Arg396Ser) c.1125G>C (p.Arg375Ser) c.1236G>C (p.Arg412Ser) c.1104G>C (p.Arg368Ser) c.1095G>C (p.Arg365Ser) c.933G>C (p.Arg311Ser) c.1047G>C (p.Arg349Ser) | gnomAD v4 |
3 | g.194604425C>T | CA355825062 | TMEM44 | c.1038G>A (p.Arg346=) c.1034G>A (p.Gly345Asp) c.1179G>A (p.Arg393=) c.*334G>A (n.*334G>A) c.230G>A (p.Gly77Asp) c.312G>A (p.Arg104=) c.537G>A (p.Arg179=) n.84G>A n.802G>A c.1188G>A (p.Arg396=) c.1125G>A (p.Arg375=) c.1236G>A (p.Arg412=) c.1104G>A (p.Arg368=) c.1095G>A (p.Arg365=) c.933G>A (p.Arg311=) c.1047G>A (p.Arg349=) | gnomAD v4 |
3 | g.194604426C>A | CA355825063 | TMEM44 | c.1037G>T (p.Arg346Met) c.1033G>T (p.Gly345Cys) c.1178G>T (p.Arg393Met) c.*333G>T (n.*333G>T) c.229G>T (p.Gly77Cys) c.311G>T (p.Arg104Met) c.536G>T (p.Arg179Met) n.83G>T n.801G>T c.1187G>T (p.Arg396Met) c.1124G>T (p.Arg375Met) c.1235G>T (p.Arg412Met) c.1103G>T (p.Arg368Met) c.1094G>T (p.Arg365Met) c.932G>T (p.Arg311Met) c.1046G>T (p.Arg349Met) | gnomAD v4 |
3 | g.194604426C= | CA1430709403 | TMEM44 | c.1037G= (p.Arg346=) c.1033G= (p.Gly345=) c.1178G= (p.Arg393=) c.*333G= (n.*333G=) c.229G= (p.Gly77=) c.311G= (p.Arg104=) c.536G= (p.Arg179=) n.83G= n.801G= c.1187G= (p.Arg396=) c.1124G= (p.Arg375=) c.1235G= (p.Arg412=) c.1103G= (p.Arg368=) c.1094G= (p.Arg365=) c.932G= (p.Arg311=) c.1046G= (p.Arg349=) | |
3 | g.194604426C>G | CA355825064 | TMEM44 | c.1037G>C (p.Arg346Thr) c.1033G>C (p.Gly345Arg) c.1178G>C (p.Arg393Thr) c.*333G>C (n.*333G>C) c.229G>C (p.Gly77Arg) c.311G>C (p.Arg104Thr) c.536G>C (p.Arg179Thr) n.83G>C n.801G>C c.1187G>C (p.Arg396Thr) c.1124G>C (p.Arg375Thr) c.1235G>C (p.Arg412Thr) c.1103G>C (p.Arg368Thr) c.1094G>C (p.Arg365Thr) c.932G>C (p.Arg311Thr) c.1046G>C (p.Arg349Thr) | |
3 | g.194604426C>T | CA355825065 | TMEM44 | c.1037G>A (p.Arg346Lys) c.1033G>A (p.Gly345Ser) c.1178G>A (p.Arg393Lys) c.*333G>A (n.*333G>A) c.229G>A (p.Gly77Ser) c.311G>A (p.Arg104Lys) c.536G>A (p.Arg179Lys) n.83G>A n.801G>A c.1187G>A (p.Arg396Lys) c.1124G>A (p.Arg375Lys) c.1235G>A (p.Arg412Lys) c.1103G>A (p.Arg368Lys) c.1094G>A (p.Arg365Lys) c.932G>A (p.Arg311Lys) c.1046G>A (p.Arg349Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604427T>A | CA355825067 | TMEM44 | c.1036A>T (p.Arg346Trp) c.1032A>T (p.Pro344=) c.1177A>T (p.Arg393Trp) c.*332A>T (n.*332A>T) c.228A>T (p.Pro76=) c.310A>T (p.Arg104Trp) c.535A>T (p.Arg179Trp) n.82A>T n.800A>T c.1186A>T (p.Arg396Trp) c.1123A>T (p.Arg375Trp) c.1234A>T (p.Arg412Trp) c.1102A>T (p.Arg368Trp) c.1093A>T (p.Arg365Trp) c.931A>T (p.Arg311Trp) c.1045A>T (p.Arg349Trp) | gnomAD v4 |
3 | g.194604427T>C | CA355825066 | TMEM44 | c.1036A>G (p.Arg346Gly) c.1032A>G (p.Pro344=) c.1177A>G (p.Arg393Gly) c.*332A>G (n.*332A>G) c.228A>G (p.Pro76=) c.310A>G (p.Arg104Gly) c.535A>G (p.Arg179Gly) n.82A>G n.800A>G c.1186A>G (p.Arg396Gly) c.1123A>G (p.Arg375Gly) c.1234A>G (p.Arg412Gly) c.1102A>G (p.Arg368Gly) c.1093A>G (p.Arg365Gly) c.931A>G (p.Arg311Gly) c.1045A>G (p.Arg349Gly) | gnomAD v4 |
3 | g.194604427T>G | CA437487701 | TMEM44 | c.1036A>C (p.Arg346=) c.1032A>C (p.Pro344=) c.1177A>C (p.Arg393=) c.*332A>C (n.*332A>C) c.228A>C (p.Pro76=) c.310A>C (p.Arg104=) c.535A>C (p.Arg179=) n.82A>C n.800A>C c.1186A>C (p.Arg396=) c.1123A>C (p.Arg375=) c.1234A>C (p.Arg412=) c.1102A>C (p.Arg368=) c.1093A>C (p.Arg365=) c.931A>C (p.Arg311=) c.1045A>C (p.Arg349=) | |
3 | g.194604428G>A | CA355825068 | TMEM44 | c.1035C>T (p.Thr345=) c.1031C>T (p.Pro344Leu) c.1176C>T (p.Thr392=) c.*331C>T (n.*331C>T) c.227C>T (p.Pro76Leu) c.309C>T (p.Thr103=) c.534C>T (p.Thr178=) n.81C>T n.799C>T c.1185C>T (p.Thr395=) c.1122C>T (p.Thr374=) c.1233C>T (p.Thr411=) c.1101C>T (p.Thr367=) c.1092C>T (p.Thr364=) c.930C>T (p.Thr310=) c.1044C>T (p.Thr348=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604428G>C | CA355825069 | TMEM44 | c.1035C>G (p.Thr345=) c.1031C>G (p.Pro344Arg) c.1176C>G (p.Thr392=) c.*331C>G (n.*331C>G) c.227C>G (p.Pro76Arg) c.309C>G (p.Thr103=) c.534C>G (p.Thr178=) n.81C>G n.799C>G c.1185C>G (p.Thr395=) c.1122C>G (p.Thr374=) c.1233C>G (p.Thr411=) c.1101C>G (p.Thr367=) c.1092C>G (p.Thr364=) c.930C>G (p.Thr310=) c.1044C>G (p.Thr348=) | |
3 | g.194604428G= | CA1430709406 | TMEM44 | c.1035C= (p.Thr345=) c.1031C= (p.Pro344=) c.1176C= (p.Thr392=) c.*331C= (n.*331C=) c.227C= (p.Pro76=) c.309C= (p.Thr103=) c.534C= (p.Thr178=) n.81C= n.799C= c.1185C= (p.Thr395=) c.1122C= (p.Thr374=) c.1233C= (p.Thr411=) c.1101C= (p.Thr367=) c.1092C= (p.Thr364=) c.930C= (p.Thr310=) c.1044C= (p.Thr348=) | |
3 | g.194604428G>T | CA355825070 | TMEM44 | c.1035C>A (p.Thr345=) c.1031C>A (p.Pro344Gln) c.1176C>A (p.Thr392=) c.*331C>A (n.*331C>A) c.227C>A (p.Pro76Gln) c.309C>A (p.Thr103=) c.534C>A (p.Thr178=) n.81C>A n.799C>A c.1185C>A (p.Thr395=) c.1122C>A (p.Thr374=) c.1233C>A (p.Thr411=) c.1101C>A (p.Thr367=) c.1092C>A (p.Thr364=) c.930C>A (p.Thr310=) c.1044C>A (p.Thr348=) | gnomAD v4 |
3 | g.194604429G>A | CA2762556 | TMEM44 | c.1034C>T (p.Thr345Ile) c.1030C>T (p.Pro344Ser) c.1175C>T (p.Thr392Ile) c.*330C>T (n.*330C>T) c.226C>T (p.Pro76Ser) c.308C>T (p.Thr103Ile) c.533C>T (p.Thr178Ile) n.80C>T n.798C>T c.1184C>T (p.Thr395Ile) c.1121C>T (p.Thr374Ile) c.1232C>T (p.Thr411Ile) c.1100C>T (p.Thr367Ile) c.1091C>T (p.Thr364Ile) c.929C>T (p.Thr310Ile) c.1043C>T (p.Thr348Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604429G>C | CA355825071 | TMEM44 | c.1034C>G (p.Thr345Ser) c.1030C>G (p.Pro344Ala) c.1175C>G (p.Thr392Ser) c.*330C>G (n.*330C>G) c.226C>G (p.Pro76Ala) c.308C>G (p.Thr103Ser) c.533C>G (p.Thr178Ser) n.80C>G n.798C>G c.1184C>G (p.Thr395Ser) c.1121C>G (p.Thr374Ser) c.1232C>G (p.Thr411Ser) c.1100C>G (p.Thr367Ser) c.1091C>G (p.Thr364Ser) c.929C>G (p.Thr310Ser) c.1043C>G (p.Thr348Ser) | |
3 | g.194604429G= | CA1430709409 | TMEM44 | c.1034C= (p.Thr345=) c.1030C= (p.Pro344=) c.1175C= (p.Thr392=) c.*330C= (n.*330C=) c.226C= (p.Pro76=) c.308C= (p.Thr103=) c.533C= (p.Thr178=) n.80C= n.798C= c.1184C= (p.Thr395=) c.1121C= (p.Thr374=) c.1232C= (p.Thr411=) c.1100C= (p.Thr367=) c.1091C= (p.Thr364=) c.929C= (p.Thr310=) c.1043C= (p.Thr348=) | |
3 | g.194604429G>T | CA355825072 | TMEM44 | c.1034C>A (p.Thr345Asn) c.1030C>A (p.Pro344Thr) c.1175C>A (p.Thr392Asn) c.*330C>A (n.*330C>A) c.226C>A (p.Pro76Thr) c.308C>A (p.Thr103Asn) c.533C>A (p.Thr178Asn) n.80C>A n.798C>A c.1184C>A (p.Thr395Asn) c.1121C>A (p.Thr374Asn) c.1232C>A (p.Thr411Asn) c.1100C>A (p.Thr367Asn) c.1091C>A (p.Thr364Asn) c.929C>A (p.Thr310Asn) c.1043C>A (p.Thr348Asn) | gnomAD v4 |
3 | g.194604430T>A | CA355825074 | TMEM44 | c.1033A>T (p.Thr345Ser) c.1029A>T (p.Pro343=) c.1174A>T (p.Thr392Ser) c.*329A>T (n.*329A>T) c.225A>T (p.Pro75=) c.307A>T (p.Thr103Ser) c.532A>T (p.Thr178Ser) n.79A>T n.797A>T c.1183A>T (p.Thr395Ser) c.1120A>T (p.Thr374Ser) c.1231A>T (p.Thr411Ser) c.1099A>T (p.Thr367Ser) c.1090A>T (p.Thr364Ser) c.928A>T (p.Thr310Ser) c.1042A>T (p.Thr348Ser) | |
3 | g.194604430T>C | CA2762557 | TMEM44 | c.1033A>G (p.Thr345Ala) c.1029A>G (p.Pro343=) c.1174A>G (p.Thr392Ala) c.*329A>G (n.*329A>G) c.225A>G (p.Pro75=) c.307A>G (p.Thr103Ala) c.532A>G (p.Thr178Ala) n.79A>G n.797A>G c.1183A>G (p.Thr395Ala) c.1120A>G (p.Thr374Ala) c.1231A>G (p.Thr411Ala) c.1099A>G (p.Thr367Ala) c.1090A>G (p.Thr364Ala) c.928A>G (p.Thr310Ala) c.1042A>G (p.Thr348Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604430T>G | CA355825073 | TMEM44 | c.1033A>C (p.Thr345Pro) c.1029A>C (p.Pro343=) c.1174A>C (p.Thr392Pro) c.*329A>C (n.*329A>C) c.225A>C (p.Pro75=) c.307A>C (p.Thr103Pro) c.532A>C (p.Thr178Pro) n.79A>C n.797A>C c.1183A>C (p.Thr395Pro) c.1120A>C (p.Thr374Pro) c.1231A>C (p.Thr411Pro) c.1099A>C (p.Thr367Pro) c.1090A>C (p.Thr364Pro) c.928A>C (p.Thr310Pro) c.1042A>C (p.Thr348Pro) | |
3 | g.194604430T= | CA1430709413 | TMEM44 | c.1033A= (p.Thr345=) c.1029A= (p.Pro343=) c.1174A= (p.Thr392=) c.*329A= (n.*329A=) c.225A= (p.Pro75=) c.307A= (p.Thr103=) c.532A= (p.Thr178=) n.79A= n.797A= c.1183A= (p.Thr395=) c.1120A= (p.Thr374=) c.1231A= (p.Thr411=) c.1099A= (p.Thr367=) c.1090A= (p.Thr364=) c.928A= (p.Thr310=) c.1042A= (p.Thr348=) | |
3 | g.194604431G>A | CA355825075 | TMEM44 | c.1032C>T (p.Ala344=) c.1028C>T (p.Pro343Leu) c.1173C>T (p.Ala391=) c.*328C>T (n.*328C>T) c.224C>T (p.Pro75Leu) c.306C>T (p.Ala102=) c.531C>T (p.Ala177=) n.78C>T n.796C>T c.1182C>T (p.Ala394=) c.1119C>T (p.Ala373=) c.1230C>T (p.Ala410=) c.1098C>T (p.Ala366=) c.1089C>T (p.Ala363=) c.927C>T (p.Ala309=) c.1041C>T (p.Ala347=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604431G>C | CA355825076 | TMEM44 | c.1032C>G (p.Ala344=) c.1028C>G (p.Pro343Arg) c.1173C>G (p.Ala391=) c.*328C>G (n.*328C>G) c.224C>G (p.Pro75Arg) c.306C>G (p.Ala102=) c.531C>G (p.Ala177=) n.78C>G n.796C>G c.1182C>G (p.Ala394=) c.1119C>G (p.Ala373=) c.1230C>G (p.Ala410=) c.1098C>G (p.Ala366=) c.1089C>G (p.Ala363=) c.927C>G (p.Ala309=) c.1041C>G (p.Ala347=) | |
3 | g.194604431G= | CA1430709415 | TMEM44 | c.1032C= (p.Ala344=) c.1028C= (p.Pro343=) c.1173C= (p.Ala391=) c.*328C= (n.*328C=) c.224C= (p.Pro75=) c.306C= (p.Ala102=) c.531C= (p.Ala177=) n.78C= n.796C= c.1182C= (p.Ala394=) c.1119C= (p.Ala373=) c.1230C= (p.Ala410=) c.1098C= (p.Ala366=) c.1089C= (p.Ala363=) c.927C= (p.Ala309=) c.1041C= (p.Ala347=) | |
3 | g.194604431G>T | CA355825077 | TMEM44 | c.1032C>A (p.Ala344=) c.1028C>A (p.Pro343Gln) c.1173C>A (p.Ala391=) c.*328C>A (n.*328C>A) c.224C>A (p.Pro75Gln) c.306C>A (p.Ala102=) c.531C>A (p.Ala177=) n.78C>A n.796C>A c.1182C>A (p.Ala394=) c.1119C>A (p.Ala373=) c.1230C>A (p.Ala410=) c.1098C>A (p.Ala366=) c.1089C>A (p.Ala363=) c.927C>A (p.Ala309=) c.1041C>A (p.Ala347=) | |
3 | g.194604432G>A | CA355825078 | TMEM44 | c.1031C>T (p.Ala344Val) c.1027C>T (p.Pro343Ser) c.1172C>T (p.Ala391Val) c.*327C>T (n.*327C>T) c.223C>T (p.Pro75Ser) c.305C>T (p.Ala102Val) c.530C>T (p.Ala177Val) n.77C>T n.795C>T c.1181C>T (p.Ala394Val) c.1118C>T (p.Ala373Val) c.1229C>T (p.Ala410Val) c.1097C>T (p.Ala366Val) c.1088C>T (p.Ala363Val) c.926C>T (p.Ala309Val) c.1040C>T (p.Ala347Val) | gnomAD v4 |
3 | g.194604432G>C | CA355825079 | TMEM44 | c.1031C>G (p.Ala344Gly) c.1027C>G (p.Pro343Ala) c.1172C>G (p.Ala391Gly) c.*327C>G (n.*327C>G) c.223C>G (p.Pro75Ala) c.305C>G (p.Ala102Gly) c.530C>G (p.Ala177Gly) n.77C>G n.795C>G c.1181C>G (p.Ala394Gly) c.1118C>G (p.Ala373Gly) c.1229C>G (p.Ala410Gly) c.1097C>G (p.Ala366Gly) c.1088C>G (p.Ala363Gly) c.926C>G (p.Ala309Gly) c.1040C>G (p.Ala347Gly) | |
3 | g.194604432G>T | CA355825080 | TMEM44 | c.1031C>A (p.Ala344Asp) c.1027C>A (p.Pro343Thr) c.1172C>A (p.Ala391Asp) c.*327C>A (n.*327C>A) c.223C>A (p.Pro75Thr) c.305C>A (p.Ala102Asp) c.530C>A (p.Ala177Asp) n.77C>A n.795C>A c.1181C>A (p.Ala394Asp) c.1118C>A (p.Ala373Asp) c.1229C>A (p.Ala410Asp) c.1097C>A (p.Ala366Asp) c.1088C>A (p.Ala363Asp) c.926C>A (p.Ala309Asp) c.1040C>A (p.Ala347Asp) | gnomAD v4 |
3 | g.194604433C>A | CA355825081 | TMEM44 | c.1030G>T (p.Ala344Ser) c.1026G>T (p.Val342=) c.1171G>T (p.Ala391Ser) c.*326G>T (n.*326G>T) c.222G>T (p.Val74=) c.304G>T (p.Ala102Ser) c.529G>T (p.Ala177Ser) n.76G>T n.794G>T c.1180G>T (p.Ala394Ser) c.1117G>T (p.Ala373Ser) c.1228G>T (p.Ala410Ser) c.1096G>T (p.Ala366Ser) c.1087G>T (p.Ala363Ser) c.925G>T (p.Ala309Ser) c.1039G>T (p.Ala347Ser) | gnomAD v4 |
3 | g.194604433C= | CA1430709417 | TMEM44 | c.1030G= (p.Ala344=) c.1026G= (p.Val342=) c.1171G= (p.Ala391=) c.*326G= (n.*326G=) c.222G= (p.Val74=) c.304G= (p.Ala102=) c.529G= (p.Ala177=) n.76G= n.794G= c.1180G= (p.Ala394=) c.1117G= (p.Ala373=) c.1228G= (p.Ala410=) c.1096G= (p.Ala366=) c.1087G= (p.Ala363=) c.925G= (p.Ala309=) c.1039G= (p.Ala347=) | |
3 | g.194604433C>G | CA355825083 | TMEM44 | c.1030G>C (p.Ala344Pro) c.1026G>C (p.Val342=) c.1171G>C (p.Ala391Pro) c.*326G>C (n.*326G>C) c.222G>C (p.Val74=) c.304G>C (p.Ala102Pro) c.529G>C (p.Ala177Pro) n.76G>C n.794G>C c.1180G>C (p.Ala394Pro) c.1117G>C (p.Ala373Pro) c.1228G>C (p.Ala410Pro) c.1096G>C (p.Ala366Pro) c.1087G>C (p.Ala363Pro) c.925G>C (p.Ala309Pro) c.1039G>C (p.Ala347Pro) | |
3 | g.194604433C>T | CA355825082 | TMEM44 | c.1030G>A (p.Ala344Thr) c.1026G>A (p.Val342=) c.1171G>A (p.Ala391Thr) c.*326G>A (n.*326G>A) c.222G>A (p.Val74=) c.304G>A (p.Ala102Thr) c.529G>A (p.Ala177Thr) n.76G>A n.794G>A c.1180G>A (p.Ala394Thr) c.1117G>A (p.Ala373Thr) c.1228G>A (p.Ala410Thr) c.1096G>A (p.Ala366Thr) c.1087G>A (p.Ala363Thr) c.925G>A (p.Ala309Thr) c.1039G>A (p.Ala347Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604434A>C | CA355825084 | TMEM44 | c.1029T>G (p.Ser343Arg) c.1025T>G (p.Val342Gly) c.1170T>G (p.Ser390Arg) c.*325T>G (n.*325T>G) c.221T>G (p.Val74Gly) c.303T>G (p.Ser101Arg) c.528T>G (p.Ser176Arg) n.75T>G n.793T>G c.1179T>G (p.Ser393Arg) c.1116T>G (p.Ser372Arg) c.1227T>G (p.Ser409Arg) c.1095T>G (p.Ser365Arg) c.1086T>G (p.Ser362Arg) c.924T>G (p.Ser308Arg) c.1038T>G (p.Ser346Arg) | |
3 | g.194604434A>G | CA355825085 | TMEM44 | c.1029T>C (p.Ser343=) c.1025T>C (p.Val342Ala) c.1170T>C (p.Ser390=) c.*325T>C (n.*325T>C) c.221T>C (p.Val74Ala) c.303T>C (p.Ser101=) c.528T>C (p.Ser176=) n.75T>C n.793T>C c.1179T>C (p.Ser393=) c.1116T>C (p.Ser372=) c.1227T>C (p.Ser409=) c.1095T>C (p.Ser365=) c.1086T>C (p.Ser362=) c.924T>C (p.Ser308=) c.1038T>C (p.Ser346=) | gnomAD v4 |
3 | g.194604434A>T | CA355825086 | TMEM44 | c.1029T>A (p.Ser343Arg) c.1025T>A (p.Val342Glu) c.1170T>A (p.Ser390Arg) c.*325T>A (n.*325T>A) c.221T>A (p.Val74Glu) c.303T>A (p.Ser101Arg) c.528T>A (p.Ser176Arg) n.75T>A n.793T>A c.1179T>A (p.Ser393Arg) c.1116T>A (p.Ser372Arg) c.1227T>A (p.Ser409Arg) c.1095T>A (p.Ser365Arg) c.1086T>A (p.Ser362Arg) c.924T>A (p.Ser308Arg) c.1038T>A (p.Ser346Arg) | gnomAD v4 |
3 | g.194604435C>A | CA355825087 | TMEM44 | c.1028G>T (p.Ser343Ile) c.1024G>T (p.Val342Leu) c.1169G>T (p.Ser390Ile) c.*324G>T (n.*324G>T) c.220G>T (p.Val74Leu) c.302G>T (p.Ser101Ile) c.527G>T (p.Ser176Ile) n.74G>T n.792G>T c.1178G>T (p.Ser393Ile) c.1115G>T (p.Ser372Ile) c.1226G>T (p.Ser409Ile) c.1094G>T (p.Ser365Ile) c.1085G>T (p.Ser362Ile) c.923G>T (p.Ser308Ile) c.1037G>T (p.Ser346Ile) | |
3 | g.194604435C>G | CA355825088 | TMEM44 | c.1028G>C (p.Ser343Thr) c.1024G>C (p.Val342Leu) c.1169G>C (p.Ser390Thr) c.*324G>C (n.*324G>C) c.220G>C (p.Val74Leu) c.302G>C (p.Ser101Thr) c.527G>C (p.Ser176Thr) n.74G>C n.792G>C c.1178G>C (p.Ser393Thr) c.1115G>C (p.Ser372Thr) c.1226G>C (p.Ser409Thr) c.1094G>C (p.Ser365Thr) c.1085G>C (p.Ser362Thr) c.923G>C (p.Ser308Thr) c.1037G>C (p.Ser346Thr) | |
3 | g.194604435C>T | CA355825089 | TMEM44 | c.1028G>A (p.Ser343Asn) c.1024G>A (p.Val342Met) c.1169G>A (p.Ser390Asn) c.*324G>A (n.*324G>A) c.220G>A (p.Val74Met) c.302G>A (p.Ser101Asn) c.527G>A (p.Ser176Asn) n.74G>A n.792G>A c.1178G>A (p.Ser393Asn) c.1115G>A (p.Ser372Asn) c.1226G>A (p.Ser409Asn) c.1094G>A (p.Ser365Asn) c.1085G>A (p.Ser362Asn) c.923G>A (p.Ser308Asn) c.1037G>A (p.Ser346Asn) | gnomAD v4 |
3 | g.194604436T>A | CA355825090 | TMEM44 | c.1027A>T (p.Ser343Cys) c.1023A>T (p.Ala341=) c.1168A>T (p.Ser390Cys) c.*323A>T (n.*323A>T) c.219A>T (p.Ala73=) c.301A>T (p.Ser101Cys) c.526A>T (p.Ser176Cys) n.73A>T n.791A>T c.1177A>T (p.Ser393Cys) c.1114A>T (p.Ser372Cys) c.1225A>T (p.Ser409Cys) c.1093A>T (p.Ser365Cys) c.1084A>T (p.Ser362Cys) c.922A>T (p.Ser308Cys) c.1036A>T (p.Ser346Cys) | gnomAD v4 |
3 | g.194604436T>C | CA355825091 | TMEM44 | c.1027A>G (p.Ser343Gly) c.1023A>G (p.Ala341=) c.1168A>G (p.Ser390Gly) c.*323A>G (n.*323A>G) c.219A>G (p.Ala73=) c.301A>G (p.Ser101Gly) c.526A>G (p.Ser176Gly) n.73A>G n.791A>G c.1177A>G (p.Ser393Gly) c.1114A>G (p.Ser372Gly) c.1225A>G (p.Ser409Gly) c.1093A>G (p.Ser365Gly) c.1084A>G (p.Ser362Gly) c.922A>G (p.Ser308Gly) c.1036A>G (p.Ser346Gly) | gnomAD v4 |
3 | g.194604436T>G | CA355825092 | TMEM44 | c.1027A>C (p.Ser343Arg) c.1023A>C (p.Ala341=) c.1168A>C (p.Ser390Arg) c.*323A>C (n.*323A>C) c.219A>C (p.Ala73=) c.301A>C (p.Ser101Arg) c.526A>C (p.Ser176Arg) n.73A>C n.791A>C c.1177A>C (p.Ser393Arg) c.1114A>C (p.Ser372Arg) c.1225A>C (p.Ser409Arg) c.1093A>C (p.Ser365Arg) c.1084A>C (p.Ser362Arg) c.922A>C (p.Ser308Arg) c.1036A>C (p.Ser346Arg) | |
3 | g.194604437G>A | CA355825093 | TMEM44 | c.1026C>T (p.Cys342=) c.1022C>T (p.Ala341Val) c.1167C>T (p.Cys389=) c.*322C>T (n.*322C>T) c.218C>T (p.Ala73Val) c.300C>T (p.Cys100=) c.525C>T (p.Cys175=) n.72C>T n.790C>T c.1176C>T (p.Cys392=) c.1113C>T (p.Cys371=) c.1224C>T (p.Cys408=) c.1092C>T (p.Cys364=) c.1083C>T (p.Cys361=) c.921C>T (p.Cys307=) c.1035C>T (p.Cys345=) | gnomAD v4 |
3 | g.194604437G>C | CA355825094 | TMEM44 | c.1026C>G (p.Cys342Trp) c.1022C>G (p.Ala341Gly) c.1167C>G (p.Cys389Trp) c.*322C>G (n.*322C>G) c.218C>G (p.Ala73Gly) c.300C>G (p.Cys100Trp) c.525C>G (p.Cys175Trp) n.72C>G n.790C>G c.1176C>G (p.Cys392Trp) c.1113C>G (p.Cys371Trp) c.1224C>G (p.Cys408Trp) c.1092C>G (p.Cys364Trp) c.1083C>G (p.Cys361Trp) c.921C>G (p.Cys307Trp) c.1035C>G (p.Cys345Trp) | |
3 | g.194604437G>T | CA355825095 | TMEM44 | c.1026C>A (p.Cys342Ter) c.1022C>A (p.Ala341Glu) c.1167C>A (p.Cys389Ter) c.*322C>A (n.*322C>A) c.218C>A (p.Ala73Glu) c.300C>A (p.Cys100Ter) c.525C>A (p.Cys175Ter) n.72C>A n.790C>A c.1176C>A (p.Cys392Ter) c.1113C>A (p.Cys371Ter) c.1224C>A (p.Cys408Ter) c.1092C>A (p.Cys364Ter) c.1083C>A (p.Cys361Ter) c.921C>A (p.Cys307Ter) c.1035C>A (p.Cys345Ter) | |
3 | g.194604438C>A | CA355825098 | TMEM44 | c.1025G>T (p.Cys342Phe) c.1021G>T (p.Ala341Ser) c.1166G>T (p.Cys389Phe) c.*321G>T (n.*321G>T) c.217G>T (p.Ala73Ser) c.299G>T (p.Cys100Phe) c.524G>T (p.Cys175Phe) n.71G>T n.789G>T c.1175G>T (p.Cys392Phe) c.1112G>T (p.Cys371Phe) c.1223G>T (p.Cys408Phe) c.1091G>T (p.Cys364Phe) c.1082G>T (p.Cys361Phe) c.920G>T (p.Cys307Phe) c.1034G>T (p.Cys345Phe) | gnomAD v4 |
3 | g.194604438C= | CA1430709419 | TMEM44 | c.1025G= (p.Cys342=) c.1021G= (p.Ala341=) c.1166G= (p.Cys389=) c.*321G= (n.*321G=) c.217G= (p.Ala73=) c.299G= (p.Cys100=) c.524G= (p.Cys175=) n.71G= n.789G= c.1175G= (p.Cys392=) c.1112G= (p.Cys371=) c.1223G= (p.Cys408=) c.1091G= (p.Cys364=) c.1082G= (p.Cys361=) c.920G= (p.Cys307=) c.1034G= (p.Cys345=) | |
3 | g.194604438C>G | CA355825097 | TMEM44 | c.1025G>C (p.Cys342Ser) c.1021G>C (p.Ala341Pro) c.1166G>C (p.Cys389Ser) c.*321G>C (n.*321G>C) c.217G>C (p.Ala73Pro) c.299G>C (p.Cys100Ser) c.524G>C (p.Cys175Ser) n.71G>C n.789G>C c.1175G>C (p.Cys392Ser) c.1112G>C (p.Cys371Ser) c.1223G>C (p.Cys408Ser) c.1091G>C (p.Cys364Ser) c.1082G>C (p.Cys361Ser) c.920G>C (p.Cys307Ser) c.1034G>C (p.Cys345Ser) | |
3 | g.194604438C>T | CA355825096 | TMEM44 | c.1025G>A (p.Cys342Tyr) c.1021G>A (p.Ala341Thr) c.1166G>A (p.Cys389Tyr) c.*321G>A (n.*321G>A) c.217G>A (p.Ala73Thr) c.299G>A (p.Cys100Tyr) c.524G>A (p.Cys175Tyr) n.71G>A n.789G>A c.1175G>A (p.Cys392Tyr) c.1112G>A (p.Cys371Tyr) c.1223G>A (p.Cys408Tyr) c.1091G>A (p.Cys364Tyr) c.1082G>A (p.Cys361Tyr) c.920G>A (p.Cys307Tyr) c.1034G>A (p.Cys345Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604439A>C | CA355825099 | TMEM44 | c.1024T>G (p.Cys342Gly) c.1020T>G (p.Ala340=) c.1165T>G (p.Cys389Gly) c.*320T>G (n.*320T>G) c.216T>G (p.Ala72=) c.298T>G (p.Cys100Gly) c.523T>G (p.Cys175Gly) n.70T>G n.788T>G c.1174T>G (p.Cys392Gly) c.1111T>G (p.Cys371Gly) c.1222T>G (p.Cys408Gly) c.1090T>G (p.Cys364Gly) c.1081T>G (p.Cys361Gly) c.919T>G (p.Cys307Gly) c.1033T>G (p.Cys345Gly) | |
3 | g.194604439A>G | CA355825101 | TMEM44 | c.1024T>C (p.Cys342Arg) c.1020T>C (p.Ala340=) c.1165T>C (p.Cys389Arg) c.*320T>C (n.*320T>C) c.216T>C (p.Ala72=) c.298T>C (p.Cys100Arg) c.523T>C (p.Cys175Arg) n.70T>C n.788T>C c.1174T>C (p.Cys392Arg) c.1111T>C (p.Cys371Arg) c.1222T>C (p.Cys408Arg) c.1090T>C (p.Cys364Arg) c.1081T>C (p.Cys361Arg) c.919T>C (p.Cys307Arg) c.1033T>C (p.Cys345Arg) | gnomAD v4 |
3 | g.194604439A>T | CA355825100 | TMEM44 | c.1024T>A (p.Cys342Ser) c.1020T>A (p.Ala340=) c.1165T>A (p.Cys389Ser) c.*320T>A (n.*320T>A) c.216T>A (p.Ala72=) c.298T>A (p.Cys100Ser) c.523T>A (p.Cys175Ser) n.70T>A n.788T>A c.1174T>A (p.Cys392Ser) c.1111T>A (p.Cys371Ser) c.1222T>A (p.Cys408Ser) c.1090T>A (p.Cys364Ser) c.1081T>A (p.Cys361Ser) c.919T>A (p.Cys307Ser) c.1033T>A (p.Cys345Ser) | |
3 | g.194604440G>A | CA355825102 | TMEM44 | c.1023C>T (p.Gly341=) c.1019C>T (p.Ala340Val) c.1164C>T (p.Gly388=) c.*319C>T (n.*319C>T) c.215C>T (p.Ala72Val) c.297C>T (p.Gly99=) c.522C>T (p.Gly174=) n.69C>T n.787C>T c.1173C>T (p.Gly391=) c.1110C>T (p.Gly370=) c.1221C>T (p.Gly407=) c.1089C>T (p.Gly363=) c.1080C>T (p.Gly360=) c.918C>T (p.Gly306=) c.1032C>T (p.Gly344=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604440G>C | CA355825104 | TMEM44 | c.1023C>G (p.Gly341=) c.1019C>G (p.Ala340Gly) c.1164C>G (p.Gly388=) c.*319C>G (n.*319C>G) c.215C>G (p.Ala72Gly) c.297C>G (p.Gly99=) c.522C>G (p.Gly174=) n.69C>G n.787C>G c.1173C>G (p.Gly391=) c.1110C>G (p.Gly370=) c.1221C>G (p.Gly407=) c.1089C>G (p.Gly363=) c.1080C>G (p.Gly360=) c.918C>G (p.Gly306=) c.1032C>G (p.Gly344=) | |
3 | g.194604440G= | CA1430709423 | TMEM44 | c.1023C= (p.Gly341=) c.1019C= (p.Ala340=) c.1164C= (p.Gly388=) c.*319C= (n.*319C=) c.215C= (p.Ala72=) c.297C= (p.Gly99=) c.522C= (p.Gly174=) n.69C= n.787C= c.1173C= (p.Gly391=) c.1110C= (p.Gly370=) c.1221C= (p.Gly407=) c.1089C= (p.Gly363=) c.1080C= (p.Gly360=) c.918C= (p.Gly306=) c.1032C= (p.Gly344=) | |
3 | g.194604440G>T | CA355825103 | TMEM44 | c.1023C>A (p.Gly341=) c.1019C>A (p.Ala340Asp) c.1164C>A (p.Gly388=) c.*319C>A (n.*319C>A) c.215C>A (p.Ala72Asp) c.297C>A (p.Gly99=) c.522C>A (p.Gly174=) n.69C>A n.787C>A c.1173C>A (p.Gly391=) c.1110C>A (p.Gly370=) c.1221C>A (p.Gly407=) c.1089C>A (p.Gly363=) c.1080C>A (p.Gly360=) c.918C>A (p.Gly306=) c.1032C>A (p.Gly344=) | |
3 | g.194604441C>A | CA355825105 | TMEM44 | c.1022G>T (p.Gly341Val) c.1018G>T (p.Ala340Ser) c.1163G>T (p.Gly388Val) c.*318G>T (n.*318G>T) c.214G>T (p.Ala72Ser) c.296G>T (p.Gly99Val) c.521G>T (p.Gly174Val) n.68G>T n.786G>T c.1172G>T (p.Gly391Val) c.1109G>T (p.Gly370Val) c.1220G>T (p.Gly407Val) c.1088G>T (p.Gly363Val) c.1079G>T (p.Gly360Val) c.917G>T (p.Gly306Val) c.1031G>T (p.Gly344Val) | gnomAD v4 |
3 | g.194604441C= | CA1430709426 | TMEM44 | c.1022G= (p.Gly341=) c.1018G= (p.Ala340=) c.1163G= (p.Gly388=) c.*318G= (n.*318G=) c.214G= (p.Ala72=) c.296G= (p.Gly99=) c.521G= (p.Gly174=) n.68G= n.786G= c.1172G= (p.Gly391=) c.1109G= (p.Gly370=) c.1220G= (p.Gly407=) c.1088G= (p.Gly363=) c.1079G= (p.Gly360=) c.917G= (p.Gly306=) c.1031G= (p.Gly344=) | |
3 | g.194604441C>G | CA355825107 | TMEM44 | c.1022G>C (p.Gly341Ala) c.1018G>C (p.Ala340Pro) c.1163G>C (p.Gly388Ala) c.*318G>C (n.*318G>C) c.214G>C (p.Ala72Pro) c.296G>C (p.Gly99Ala) c.521G>C (p.Gly174Ala) n.68G>C n.786G>C c.1172G>C (p.Gly391Ala) c.1109G>C (p.Gly370Ala) c.1220G>C (p.Gly407Ala) c.1088G>C (p.Gly363Ala) c.1079G>C (p.Gly360Ala) c.917G>C (p.Gly306Ala) c.1031G>C (p.Gly344Ala) | |
3 | g.194604441C>T | CA90641528 | TMEM44 | c.1022G>A (p.Gly341Asp) c.1018G>A (p.Ala340Thr) c.1163G>A (p.Gly388Asp) c.*318G>A (n.*318G>A) c.214G>A (p.Ala72Thr) c.296G>A (p.Gly99Asp) c.521G>A (p.Gly174Asp) n.68G>A n.786G>A c.1172G>A (p.Gly391Asp) c.1109G>A (p.Gly370Asp) c.1220G>A (p.Gly407Asp) c.1088G>A (p.Gly363Asp) c.1079G>A (p.Gly360Asp) c.917G>A (p.Gly306Asp) c.1031G>A (p.Gly344Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604441_194604443dup | CA1430709427 | TMEM44 | c.1020_1022dup (p.Gly341_Cys342insGly) c.1018-2_1018dup c.1161_1163dup (p.Gly388_Cys389insGly) c.*316_*318dup (n.*316_*318dup) c.214-2_214dup c.294_296dup (p.Gly99_Cys100insGly) c.519_521dup (p.Gly174_Cys175insGly) n.66_68dup n.784_786dup c.1170_1172dup (p.Gly391_Cys392insGly) c.1107_1109dup (p.Gly370_Cys371insGly) c.1218_1220dup (p.Gly407_Cys408insGly) c.1086_1088dup (p.Gly363_Cys364insGly) c.1077_1079dup (p.Gly360_Cys361insGly) c.915_917dup (p.Gly306_Cys307insGly) c.1029_1031dup (p.Gly344_Cys345insGly) | dbSNP gnomAD v4 |
3 | g.194604442C>A | CA355825108 | TMEM44 | c.1021G>T (p.Gly341Cys) c.1018-1G>T (n.1018-1G>T) c.1162G>T (p.Gly388Cys) c.*317G>T (n.*317G>T) c.214-1G>T (n.214-1G>T) c.295G>T (p.Gly99Cys) c.520G>T (p.Gly174Cys) n.67G>T n.785G>T c.1171G>T (p.Gly391Cys) c.1108G>T (p.Gly370Cys) c.1219G>T (p.Gly407Cys) c.1087G>T (p.Gly363Cys) c.1078G>T (p.Gly360Cys) c.916G>T (p.Gly306Cys) c.1030G>T (p.Gly344Cys) | gnomAD v4 |
3 | g.194604442C= | CA1430709428 | TMEM44 | c.1021G= (p.Gly341=) c.1018-1G= (n.1018-1G=) c.1162G= (p.Gly388=) c.*317G= (n.*317G=) c.214-1G= (n.214-1G=) c.295G= (p.Gly99=) c.520G= (p.Gly174=) n.67G= n.785G= c.1171G= (p.Gly391=) c.1108G= (p.Gly370=) c.1219G= (p.Gly407=) c.1087G= (p.Gly363=) c.1078G= (p.Gly360=) c.916G= (p.Gly306=) c.1030G= (p.Gly344=) | |
3 | g.194604442C>G | CA355825110 | TMEM44 | c.1021G>C (p.Gly341Arg) c.1018-1G>C (n.1018-1G>C) c.1162G>C (p.Gly388Arg) c.*317G>C (n.*317G>C) c.214-1G>C (n.214-1G>C) c.295G>C (p.Gly99Arg) c.520G>C (p.Gly174Arg) n.67G>C n.785G>C c.1171G>C (p.Gly391Arg) c.1108G>C (p.Gly370Arg) c.1219G>C (p.Gly407Arg) c.1087G>C (p.Gly363Arg) c.1078G>C (p.Gly360Arg) c.916G>C (p.Gly306Arg) c.1030G>C (p.Gly344Arg) | dbSNP gnomAD v2 |
3 | g.194604442C>T | CA355825109 | TMEM44 | c.1021G>A (p.Gly341Ser) c.1018-1G>A (n.1018-1G>A) c.1162G>A (p.Gly388Ser) c.*317G>A (n.*317G>A) c.214-1G>A (n.214-1G>A) c.295G>A (p.Gly99Ser) c.520G>A (p.Gly174Ser) n.67G>A n.785G>A c.1171G>A (p.Gly391Ser) c.1108G>A (p.Gly370Ser) c.1219G>A (p.Gly407Ser) c.1087G>A (p.Gly363Ser) c.1078G>A (p.Gly360Ser) c.916G>A (p.Gly306Ser) c.1030G>A (p.Gly344Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604443T>A | CA355825111 | TMEM44 | c.1020A>T (p.Ala340=) c.1018-2A>T (n.1018-2A>T) c.1161A>T (p.Ala387=) c.*316A>T (n.*316A>T) c.214-2A>T (n.214-2A>T) c.294A>T (p.Ala98=) c.519A>T (p.Ala173=) n.66A>T n.784A>T c.1170A>T (p.Ala390=) c.1107A>T (p.Ala369=) c.1218A>T (p.Ala406=) c.1086A>T (p.Ala362=) c.1077A>T (p.Ala359=) c.915A>T (p.Ala305=) c.1029A>T (p.Ala343=) | |
3 | g.194604443T>C | CA355825112 | TMEM44 | c.1020A>G (p.Ala340=) c.1018-2A>G (n.1018-2A>G) c.1161A>G (p.Ala387=) c.*316A>G (n.*316A>G) c.214-2A>G (n.214-2A>G) c.294A>G (p.Ala98=) c.519A>G (p.Ala173=) n.66A>G n.784A>G c.1170A>G (p.Ala390=) c.1107A>G (p.Ala369=) c.1218A>G (p.Ala406=) c.1086A>G (p.Ala362=) c.1077A>G (p.Ala359=) c.915A>G (p.Ala305=) c.1029A>G (p.Ala343=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604443T>G | CA355825113 | TMEM44 | c.1020A>C (p.Ala340=) c.1018-2A>C (n.1018-2A>C) c.1161A>C (p.Ala387=) c.*316A>C (n.*316A>C) c.214-2A>C (n.214-2A>C) c.294A>C (p.Ala98=) c.519A>C (p.Ala173=) n.66A>C n.784A>C c.1170A>C (p.Ala390=) c.1107A>C (p.Ala369=) c.1218A>C (p.Ala406=) c.1086A>C (p.Ala362=) c.1077A>C (p.Ala359=) c.915A>C (p.Ala305=) c.1029A>C (p.Ala343=) | |
3 | g.194604443T= | CA1430709429 | TMEM44 | c.1020A= (p.Ala340=) c.1018-2A= (n.1018-2A=) c.1161A= (p.Ala387=) c.*316A= (n.*316A=) c.214-2A= (n.214-2A=) c.294A= (p.Ala98=) c.519A= (p.Ala173=) n.66A= n.784A= c.1170A= (p.Ala390=) c.1107A= (p.Ala369=) c.1218A= (p.Ala406=) c.1086A= (p.Ala362=) c.1077A= (p.Ala359=) c.915A= (p.Ala305=) c.1029A= (p.Ala343=) | |
3 | g.194604444G>A | CA90641533 | TMEM44 | c.1019C>T (p.Ala340Val) c.1018-3C>T (n.1018-3C>T) c.1160C>T (p.Ala387Val) c.*315C>T (n.*315C>T) c.214-3C>T (n.214-3C>T) c.293C>T (p.Ala98Val) c.518C>T (p.Ala173Val) n.65C>T n.783C>T c.1169C>T (p.Ala390Val) c.1106C>T (p.Ala369Val) c.1217C>T (p.Ala406Val) c.1085C>T (p.Ala362Val) c.1076C>T (p.Ala359Val) c.914C>T (p.Ala305Val) c.1028C>T (p.Ala343Val) | dbSNP gnomAD v4 |
3 | g.194604444G>C | CA355825114 | TMEM44 | c.1019C>G (p.Ala340Gly) c.1018-3C>G (n.1018-3C>G) c.1160C>G (p.Ala387Gly) c.*315C>G (n.*315C>G) c.214-3C>G (n.214-3C>G) c.293C>G (p.Ala98Gly) c.518C>G (p.Ala173Gly) n.65C>G n.783C>G c.1169C>G (p.Ala390Gly) c.1106C>G (p.Ala369Gly) c.1217C>G (p.Ala406Gly) c.1085C>G (p.Ala362Gly) c.1076C>G (p.Ala359Gly) c.914C>G (p.Ala305Gly) c.1028C>G (p.Ala343Gly) | |
3 | g.194604444G= | CA1430709430 | TMEM44 | c.1019C= (p.Ala340=) c.1018-3C= (n.1018-3C=) c.1160C= (p.Ala387=) c.*315C= (n.*315C=) c.214-3C= (n.214-3C=) c.293C= (p.Ala98=) c.518C= (p.Ala173=) n.65C= n.783C= c.1169C= (p.Ala390=) c.1106C= (p.Ala369=) c.1217C= (p.Ala406=) c.1085C= (p.Ala362=) c.1076C= (p.Ala359=) c.914C= (p.Ala305=) c.1028C= (p.Ala343=) | |
3 | g.194604444G>T | CA355825115 | TMEM44 | c.1019C>A (p.Ala340Glu) c.1018-3C>A (n.1018-3C>A) c.1160C>A (p.Ala387Glu) c.*315C>A (n.*315C>A) c.214-3C>A (n.214-3C>A) c.293C>A (p.Ala98Glu) c.518C>A (p.Ala173Glu) n.65C>A n.783C>A c.1169C>A (p.Ala390Glu) c.1106C>A (p.Ala369Glu) c.1217C>A (p.Ala406Glu) c.1085C>A (p.Ala362Glu) c.1076C>A (p.Ala359Glu) c.914C>A (p.Ala305Glu) c.1028C>A (p.Ala343Glu) | gnomAD v4 |
3 | g.194604445C>A | CA355825116 | TMEM44 | c.1018G>T (p.Ala340Ser) c.1018-4G>T (n.1018-4G>T) c.1159G>T (p.Ala387Ser) c.*314G>T (n.*314G>T) c.214-4G>T (n.214-4G>T) c.292G>T (p.Ala98Ser) c.517G>T (p.Ala173Ser) n.64G>T n.782G>T c.1168G>T (p.Ala390Ser) c.1105G>T (p.Ala369Ser) c.1216G>T (p.Ala406Ser) c.1084G>T (p.Ala362Ser) c.1075G>T (p.Ala359Ser) c.913G>T (p.Ala305Ser) c.1027G>T (p.Ala343Ser) | gnomAD v4 |
3 | g.194604445C>G | CA355825117 | TMEM44 | c.1018G>C (p.Ala340Pro) c.1018-4G>C (n.1018-4G>C) c.1159G>C (p.Ala387Pro) c.*314G>C (n.*314G>C) c.214-4G>C (n.214-4G>C) c.292G>C (p.Ala98Pro) c.517G>C (p.Ala173Pro) n.64G>C n.782G>C c.1168G>C (p.Ala390Pro) c.1105G>C (p.Ala369Pro) c.1216G>C (p.Ala406Pro) c.1084G>C (p.Ala362Pro) c.1075G>C (p.Ala359Pro) c.913G>C (p.Ala305Pro) c.1027G>C (p.Ala343Pro) | |
3 | g.194604445C>T | CA355825118 | TMEM44 | c.1018G>A (p.Ala340Thr) c.1018-4G>A (n.1018-4G>A) c.1159G>A (p.Ala387Thr) c.*314G>A (n.*314G>A) c.214-4G>A (n.214-4G>A) c.292G>A (p.Ala98Thr) c.517G>A (p.Ala173Thr) n.64G>A n.782G>A c.1168G>A (p.Ala390Thr) c.1105G>A (p.Ala369Thr) c.1216G>A (p.Ala406Thr) c.1084G>A (p.Ala362Thr) c.1075G>A (p.Ala359Thr) c.913G>A (p.Ala305Thr) c.1027G>A (p.Ala343Thr) | gnomAD v4 |
3 | g.194604446C>A | CA355825119 | TMEM44 | c.1018-1G>T (n.1018-1G>T) c.1018-5G>T (n.1018-5G>T) c.1159-1G>T (n.1159-1G>T) c.*314-1G>T (n.*314-1G>T) c.214-5G>T (n.214-5G>T) c.292-1G>T (n.292-1G>T) c.517-1G>T (n.517-1G>T) n.64-1G>T n.782-1G>T c.1168-1G>T (n.1168-1G>T) c.1105-1G>T (n.1105-1G>T) c.1216-1G>T (n.1216-1G>T) c.1084-1G>T (n.1084-1G>T) c.1075-1G>T (n.1075-1G>T) c.913-1G>T (n.913-1G>T) c.1027-1G>T (n.1027-1G>T) | |
3 | g.194604446C>G | CA355825120 | TMEM44 | c.1018-1G>C (n.1018-1G>C) c.1018-5G>C (n.1018-5G>C) c.1159-1G>C (n.1159-1G>C) c.*314-1G>C (n.*314-1G>C) c.214-5G>C (n.214-5G>C) c.292-1G>C (n.292-1G>C) c.517-1G>C (n.517-1G>C) n.64-1G>C n.782-1G>C c.1168-1G>C (n.1168-1G>C) c.1105-1G>C (n.1105-1G>C) c.1216-1G>C (n.1216-1G>C) c.1084-1G>C (n.1084-1G>C) c.1075-1G>C (n.1075-1G>C) c.913-1G>C (n.913-1G>C) c.1027-1G>C (n.1027-1G>C) | |
3 | g.194604446C>T | CA355825121 | TMEM44 | c.1018-1G>A (n.1018-1G>A) c.1018-5G>A (n.1018-5G>A) c.1159-1G>A (n.1159-1G>A) c.*314-1G>A (n.*314-1G>A) c.214-5G>A (n.214-5G>A) c.292-1G>A (n.292-1G>A) c.517-1G>A (n.517-1G>A) n.64-1G>A n.782-1G>A c.1168-1G>A (n.1168-1G>A) c.1105-1G>A (n.1105-1G>A) c.1216-1G>A (n.1216-1G>A) c.1084-1G>A (n.1084-1G>A) c.1075-1G>A (n.1075-1G>A) c.913-1G>A (n.913-1G>A) c.1027-1G>A (n.1027-1G>A) | |
3 | g.194604447T>A | CA355825123 | TMEM44 | c.1018-2A>T (n.1018-2A>T) c.1018-6A>T (n.1018-6A>T) c.1159-2A>T (n.1159-2A>T) c.*314-2A>T (n.*314-2A>T) c.214-6A>T (n.214-6A>T) c.292-2A>T (n.292-2A>T) c.517-2A>T (n.517-2A>T) n.64-2A>T n.782-2A>T c.1168-2A>T (n.1168-2A>T) c.1105-2A>T (n.1105-2A>T) c.1216-2A>T (n.1216-2A>T) c.1084-2A>T (n.1084-2A>T) c.1075-2A>T (n.1075-2A>T) c.913-2A>T (n.913-2A>T) c.1027-2A>T (n.1027-2A>T) | |
3 | g.194604447T>C | CA2762558 | TMEM44 | c.1018-2A>G (n.1018-2A>G) c.1018-6A>G (n.1018-6A>G) c.1159-2A>G (n.1159-2A>G) c.*314-2A>G (n.*314-2A>G) c.214-6A>G (n.214-6A>G) c.292-2A>G (n.292-2A>G) c.517-2A>G (n.517-2A>G) n.64-2A>G n.782-2A>G c.1168-2A>G (n.1168-2A>G) c.1105-2A>G (n.1105-2A>G) c.1216-2A>G (n.1216-2A>G) c.1084-2A>G (n.1084-2A>G) c.1075-2A>G (n.1075-2A>G) c.913-2A>G (n.913-2A>G) c.1027-2A>G (n.1027-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.194604447T>G | CA355825122 | TMEM44 | c.1018-2A>C (n.1018-2A>C) c.1018-6A>C (n.1018-6A>C) c.1159-2A>C (n.1159-2A>C) c.*314-2A>C (n.*314-2A>C) c.214-6A>C (n.214-6A>C) c.292-2A>C (n.292-2A>C) c.517-2A>C (n.517-2A>C) n.64-2A>C n.782-2A>C c.1168-2A>C (n.1168-2A>C) c.1105-2A>C (n.1105-2A>C) c.1216-2A>C (n.1216-2A>C) c.1084-2A>C (n.1084-2A>C) c.1075-2A>C (n.1075-2A>C) c.913-2A>C (n.913-2A>C) c.1027-2A>C (n.1027-2A>C) | |
3 | g.194604447T= | CA1430709431 | TMEM44 | c.1018-2A= (n.1018-2A=) c.1018-6A= (n.1018-6A=) c.1159-2A= (n.1159-2A=) c.*314-2A= (n.*314-2A=) c.214-6A= (n.214-6A=) c.292-2A= (n.292-2A=) c.517-2A= (n.517-2A=) n.64-2A= n.782-2A= c.1168-2A= (n.1168-2A=) c.1105-2A= (n.1105-2A=) c.1216-2A= (n.1216-2A=) c.1084-2A= (n.1084-2A=) c.1075-2A= (n.1075-2A=) c.913-2A= (n.913-2A=) c.1027-2A= (n.1027-2A=) | |
3 | g.194604448G>A | CA2669137843 | TMEM44 | c.1018-3C>T (n.1018-3C>T) c.1018-7C>T (n.1018-7C>T) c.1159-3C>T (n.1159-3C>T) c.*314-3C>T (n.*314-3C>T) c.214-7C>T (n.214-7C>T) c.292-3C>T (n.292-3C>T) c.517-3C>T (n.517-3C>T) n.64-3C>T n.782-3C>T c.1168-3C>T (n.1168-3C>T) c.1105-3C>T (n.1105-3C>T) c.1216-3C>T (n.1216-3C>T) c.1084-3C>T (n.1084-3C>T) c.1075-3C>T (n.1075-3C>T) c.913-3C>T (n.913-3C>T) c.1027-3C>T (n.1027-3C>T) | gnomAD v4 |
3 | g.194604448G>C | CA1057958751 | TMEM44 | c.1018-3C>G (n.1018-3C>G) c.1018-7C>G (n.1018-7C>G) c.1159-3C>G (n.1159-3C>G) c.*314-3C>G (n.*314-3C>G) c.214-7C>G (n.214-7C>G) c.292-3C>G (n.292-3C>G) c.517-3C>G (n.517-3C>G) n.64-3C>G n.782-3C>G c.1168-3C>G (n.1168-3C>G) c.1105-3C>G (n.1105-3C>G) c.1216-3C>G (n.1216-3C>G) c.1084-3C>G (n.1084-3C>G) c.1075-3C>G (n.1075-3C>G) c.913-3C>G (n.913-3C>G) c.1027-3C>G (n.1027-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604448G= | CA1430709432 | TMEM44 | c.1018-3C= (n.1018-3C=) c.1018-7C= (n.1018-7C=) c.1159-3C= (n.1159-3C=) c.*314-3C= (n.*314-3C=) c.214-7C= (n.214-7C=) c.292-3C= (n.292-3C=) c.517-3C= (n.517-3C=) n.64-3C= n.782-3C= c.1168-3C= (n.1168-3C=) c.1105-3C= (n.1105-3C=) c.1216-3C= (n.1216-3C=) c.1084-3C= (n.1084-3C=) c.1075-3C= (n.1075-3C=) c.913-3C= (n.913-3C=) c.1027-3C= (n.1027-3C=) | |
3 | g.194604448G>T | CA2669137844 | TMEM44 | c.1018-3C>A (n.1018-3C>A) c.1018-7C>A (n.1018-7C>A) c.1159-3C>A (n.1159-3C>A) c.*314-3C>A (n.*314-3C>A) c.214-7C>A (n.214-7C>A) c.292-3C>A (n.292-3C>A) c.517-3C>A (n.517-3C>A) n.64-3C>A n.782-3C>A c.1168-3C>A (n.1168-3C>A) c.1105-3C>A (n.1105-3C>A) c.1216-3C>A (n.1216-3C>A) c.1084-3C>A (n.1084-3C>A) c.1075-3C>A (n.1075-3C>A) c.913-3C>A (n.913-3C>A) c.1027-3C>A (n.1027-3C>A) | gnomAD v4 |
3 | g.194604449C>A | CA2669137845 | TMEM44 | c.1018-4G>T (n.1018-4G>T) c.1018-8G>T (n.1018-8G>T) c.1159-4G>T (n.1159-4G>T) c.*314-4G>T (n.*314-4G>T) c.214-8G>T (n.214-8G>T) c.292-4G>T (n.292-4G>T) c.517-4G>T (n.517-4G>T) n.64-4G>T n.782-4G>T c.1168-4G>T (n.1168-4G>T) c.1105-4G>T (n.1105-4G>T) c.1216-4G>T (n.1216-4G>T) c.1084-4G>T (n.1084-4G>T) c.1075-4G>T (n.1075-4G>T) c.913-4G>T (n.913-4G>T) c.1027-4G>T (n.1027-4G>T) | gnomAD v4 |
3 | g.194604449C= | CA1430709433 | TMEM44 | c.1018-4G= (n.1018-4G=) c.1018-8G= (n.1018-8G=) c.1159-4G= (n.1159-4G=) c.*314-4G= (n.*314-4G=) c.214-8G= (n.214-8G=) c.292-4G= (n.292-4G=) c.517-4G= (n.517-4G=) n.64-4G= n.782-4G= c.1168-4G= (n.1168-4G=) c.1105-4G= (n.1105-4G=) c.1216-4G= (n.1216-4G=) c.1084-4G= (n.1084-4G=) c.1075-4G= (n.1075-4G=) c.913-4G= (n.913-4G=) c.1027-4G= (n.1027-4G=) | |
3 | g.194604449C>T | CA548848423 | TMEM44 | c.1018-4G>A (n.1018-4G>A) c.1018-8G>A (n.1018-8G>A) c.1159-4G>A (n.1159-4G>A) c.*314-4G>A (n.*314-4G>A) c.214-8G>A (n.214-8G>A) c.292-4G>A (n.292-4G>A) c.517-4G>A (n.517-4G>A) n.64-4G>A n.782-4G>A c.1168-4G>A (n.1168-4G>A) c.1105-4G>A (n.1105-4G>A) c.1216-4G>A (n.1216-4G>A) c.1084-4G>A (n.1084-4G>A) c.1075-4G>A (n.1075-4G>A) c.913-4G>A (n.913-4G>A) c.1027-4G>A (n.1027-4G>A) | dbSNP gnomAD v2 |
3 | g.194604451A>T | CA2669137846 | TMEM44 | c.1018-6T>A (n.1018-6T>A) c.1018-10T>A (n.1018-10T>A) c.1159-6T>A (n.1159-6T>A) c.*314-6T>A (n.*314-6T>A) c.214-10T>A (n.214-10T>A) c.292-6T>A (n.292-6T>A) c.517-6T>A (n.517-6T>A) n.64-6T>A n.782-6T>A c.1168-6T>A (n.1168-6T>A) c.1105-6T>A (n.1105-6T>A) c.1216-6T>A (n.1216-6T>A) c.1084-6T>A (n.1084-6T>A) c.1075-6T>A (n.1075-6T>A) c.913-6T>A (n.913-6T>A) c.1027-6T>A (n.1027-6T>A) | gnomAD v4 |
3 | g.194604452G>A | CA1057958757 | TMEM44 | c.1018-7C>T (n.1018-7C>T) c.1018-11C>T (n.1018-11C>T) c.1159-7C>T (n.1159-7C>T) c.*314-7C>T (n.*314-7C>T) c.214-11C>T (n.214-11C>T) c.292-7C>T (n.292-7C>T) c.517-7C>T (n.517-7C>T) n.64-7C>T n.782-7C>T c.1168-7C>T (n.1168-7C>T) c.1105-7C>T (n.1105-7C>T) c.1216-7C>T (n.1216-7C>T) c.1084-7C>T (n.1084-7C>T) c.1075-7C>T (n.1075-7C>T) c.913-7C>T (n.913-7C>T) c.1027-7C>T (n.1027-7C>T) | dbSNP gnomAD v4 |
3 | g.194604452G= | CA1430709435 | TMEM44 | c.1018-7C= (n.1018-7C=) c.1018-11C= (n.1018-11C=) c.1159-7C= (n.1159-7C=) c.*314-7C= (n.*314-7C=) c.214-11C= (n.214-11C=) c.292-7C= (n.292-7C=) c.517-7C= (n.517-7C=) n.64-7C= n.782-7C= c.1168-7C= (n.1168-7C=) c.1105-7C= (n.1105-7C=) c.1216-7C= (n.1216-7C=) c.1084-7C= (n.1084-7C=) c.1075-7C= (n.1075-7C=) c.913-7C= (n.913-7C=) c.1027-7C= (n.1027-7C=) | |
3 | g.194604452G>T | CA2669137847 | TMEM44 | c.1018-7C>A (n.1018-7C>A) c.1018-11C>A (n.1018-11C>A) c.1159-7C>A (n.1159-7C>A) c.*314-7C>A (n.*314-7C>A) c.214-11C>A (n.214-11C>A) c.292-7C>A (n.292-7C>A) c.517-7C>A (n.517-7C>A) n.64-7C>A n.782-7C>A c.1168-7C>A (n.1168-7C>A) c.1105-7C>A (n.1105-7C>A) c.1216-7C>A (n.1216-7C>A) c.1084-7C>A (n.1084-7C>A) c.1075-7C>A (n.1075-7C>A) c.913-7C>A (n.913-7C>A) c.1027-7C>A (n.1027-7C>A) | gnomAD v4 |
3 | g.194604452_194604454delinsGGT | CA1430709434 | TMEM44 | c.1018-9_1018-7delinsACC (n.1018-9_1018-7delinsACC) c.1018-13_1018-11delinsACC (n.1018-13_1018-11delinsACC) c.1159-9_1159-7delinsACC (n.1159-9_1159-7delinsACC) c.*314-9_*314-7delinsACC (n.*314-9_*314-7delinsACC) c.214-13_214-11delinsACC (n.214-13_214-11delinsACC) c.292-9_292-7delinsACC (n.292-9_292-7delinsACC) c.517-9_517-7delinsACC (n.517-9_517-7delinsACC) n.64-9_64-7delinsACC n.782-9_782-7delinsACC c.1168-9_1168-7delinsACC (n.1168-9_1168-7delinsACC) c.1105-9_1105-7delinsACC (n.1105-9_1105-7delinsACC) c.1216-9_1216-7delinsACC (n.1216-9_1216-7delinsACC) c.1084-9_1084-7delinsACC (n.1084-9_1084-7delinsACC) c.1075-9_1075-7delinsACC (n.1075-9_1075-7delinsACC) c.913-9_913-7delinsACC (n.913-9_913-7delinsACC) c.1027-9_1027-7delinsACC (n.1027-9_1027-7delinsACC) | |
3 | g.194604453G>A | CA2577996355 | TMEM44 | c.1018-8C>T (n.1018-8C>T) c.1018-12C>T (n.1018-12C>T) c.1159-8C>T (n.1159-8C>T) c.*314-8C>T (n.*314-8C>T) c.214-12C>T (n.214-12C>T) c.292-8C>T (n.292-8C>T) c.517-8C>T (n.517-8C>T) n.64-8C>T n.782-8C>T c.1168-8C>T (n.1168-8C>T) c.1105-8C>T (n.1105-8C>T) c.1216-8C>T (n.1216-8C>T) c.1084-8C>T (n.1084-8C>T) c.1075-8C>T (n.1075-8C>T) c.913-8C>T (n.913-8C>T) c.1027-8C>T (n.1027-8C>T) | |
3 | g.194604453G>C | CA2669137848 | TMEM44 | c.1018-8C>G (n.1018-8C>G) c.1018-12C>G (n.1018-12C>G) c.1159-8C>G (n.1159-8C>G) c.*314-8C>G (n.*314-8C>G) c.214-12C>G (n.214-12C>G) c.292-8C>G (n.292-8C>G) c.517-8C>G (n.517-8C>G) n.64-8C>G n.782-8C>G c.1168-8C>G (n.1168-8C>G) c.1105-8C>G (n.1105-8C>G) c.1216-8C>G (n.1216-8C>G) c.1084-8C>G (n.1084-8C>G) c.1075-8C>G (n.1075-8C>G) c.913-8C>G (n.913-8C>G) c.1027-8C>G (n.1027-8C>G) | gnomAD v4 |
3 | g.194604458_194604459del | CA914891409 | TMEM44 | c.1018-9_1018-8del (n.1018-9_1018-8del) c.1018-13_1018-12del (n.1018-13_1018-12del) c.1159-9_1159-8del (n.1159-9_1159-8del) c.*314-9_*314-8del (n.*314-9_*314-8del) c.214-13_214-12del (n.214-13_214-12del) c.292-9_292-8del (n.292-9_292-8del) c.517-9_517-8del (n.517-9_517-8del) n.64-9_64-8del n.782-9_782-8del c.1168-9_1168-8del (n.1168-9_1168-8del) c.1105-9_1105-8del (n.1105-9_1105-8del) c.1216-9_1216-8del (n.1216-9_1216-8del) c.1084-9_1084-8del (n.1084-9_1084-8del) c.1075-9_1075-8del (n.1075-9_1075-8del) c.913-9_913-8del (n.913-9_913-8del) c.1027-9_1027-8del (n.1027-9_1027-8del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.194604454T>C | CA2669137849 | TMEM44 | c.1018-9A>G (n.1018-9A>G) c.1018-13A>G (n.1018-13A>G) c.1159-9A>G (n.1159-9A>G) c.*314-9A>G (n.*314-9A>G) c.214-13A>G (n.214-13A>G) c.292-9A>G (n.292-9A>G) c.517-9A>G (n.517-9A>G) n.64-9A>G n.782-9A>G c.1168-9A>G (n.1168-9A>G) c.1105-9A>G (n.1105-9A>G) c.1216-9A>G (n.1216-9A>G) c.1084-9A>G (n.1084-9A>G) c.1075-9A>G (n.1075-9A>G) c.913-9A>G (n.913-9A>G) c.1027-9A>G (n.1027-9A>G) | gnomAD v4 |
3 | g.194604454T>G | CA1430709437 | TMEM44 | c.1018-9A>C (n.1018-9A>C) c.1018-13A>C (n.1018-13A>C) c.1159-9A>C (n.1159-9A>C) c.*314-9A>C (n.*314-9A>C) c.214-13A>C (n.214-13A>C) c.292-9A>C (n.292-9A>C) c.517-9A>C (n.517-9A>C) n.64-9A>C n.782-9A>C c.1168-9A>C (n.1168-9A>C) c.1105-9A>C (n.1105-9A>C) c.1216-9A>C (n.1216-9A>C) c.1084-9A>C (n.1084-9A>C) c.1075-9A>C (n.1075-9A>C) c.913-9A>C (n.913-9A>C) c.1027-9A>C (n.1027-9A>C) | dbSNP |
3 | g.194604454T= | CA1430709436 | TMEM44 | c.1018-9A= (n.1018-9A=) c.1018-13A= (n.1018-13A=) c.1159-9A= (n.1159-9A=) c.*314-9A= (n.*314-9A=) c.214-13A= (n.214-13A=) c.292-9A= (n.292-9A=) c.517-9A= (n.517-9A=) n.64-9A= n.782-9A= c.1168-9A= (n.1168-9A=) c.1105-9A= (n.1105-9A=) c.1216-9A= (n.1216-9A=) c.1084-9A= (n.1084-9A=) c.1075-9A= (n.1075-9A=) c.913-9A= (n.913-9A=) c.1027-9A= (n.1027-9A=) | |
3 | g.194604455G>A | CA2669137850 | TMEM44 | c.1018-10C>T (n.1018-10C>T) c.1018-14C>T (n.1018-14C>T) c.1159-10C>T (n.1159-10C>T) c.*314-10C>T (n.*314-10C>T) c.214-14C>T (n.214-14C>T) c.292-10C>T (n.292-10C>T) c.517-10C>T (n.517-10C>T) n.64-10C>T n.782-10C>T c.1168-10C>T (n.1168-10C>T) c.1105-10C>T (n.1105-10C>T) c.1216-10C>T (n.1216-10C>T) c.1084-10C>T (n.1084-10C>T) c.1075-10C>T (n.1075-10C>T) c.913-10C>T (n.913-10C>T) c.1027-10C>T (n.1027-10C>T) | gnomAD v4 |
3 | g.194604455G>T | CA2669137851 | TMEM44 | c.1018-10C>A (n.1018-10C>A) c.1018-14C>A (n.1018-14C>A) c.1159-10C>A (n.1159-10C>A) c.*314-10C>A (n.*314-10C>A) c.214-14C>A (n.214-14C>A) c.292-10C>A (n.292-10C>A) c.517-10C>A (n.517-10C>A) n.64-10C>A n.782-10C>A c.1168-10C>A (n.1168-10C>A) c.1105-10C>A (n.1105-10C>A) c.1216-10C>A (n.1216-10C>A) c.1084-10C>A (n.1084-10C>A) c.1075-10C>A (n.1075-10C>A) c.913-10C>A (n.913-10C>A) c.1027-10C>A (n.1027-10C>A) | gnomAD v4 |
3 | g.194604456T>C | CA2669137852 | TMEM44 | c.1018-11A>G (n.1018-11A>G) c.1018-15A>G (n.1018-15A>G) c.1159-11A>G (n.1159-11A>G) c.*314-11A>G (n.*314-11A>G) c.214-15A>G (n.214-15A>G) c.292-11A>G (n.292-11A>G) c.517-11A>G (n.517-11A>G) n.64-11A>G n.782-11A>G c.1168-11A>G (n.1168-11A>G) c.1105-11A>G (n.1105-11A>G) c.1216-11A>G (n.1216-11A>G) c.1084-11A>G (n.1084-11A>G) c.1075-11A>G (n.1075-11A>G) c.913-11A>G (n.913-11A>G) c.1027-11A>G (n.1027-11A>G) | dbSNP gnomAD v4 |
3 | g.194604456T>G | CA90641563 | TMEM44 | c.1018-11A>C (n.1018-11A>C) c.1018-15A>C (n.1018-15A>C) c.1159-11A>C (n.1159-11A>C) c.*314-11A>C (n.*314-11A>C) c.214-15A>C (n.214-15A>C) c.292-11A>C (n.292-11A>C) c.517-11A>C (n.517-11A>C) n.64-11A>C n.782-11A>C c.1168-11A>C (n.1168-11A>C) c.1105-11A>C (n.1105-11A>C) c.1216-11A>C (n.1216-11A>C) c.1084-11A>C (n.1084-11A>C) c.1075-11A>C (n.1075-11A>C) c.913-11A>C (n.913-11A>C) c.1027-11A>C (n.1027-11A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604456T= | CA1430709438 | TMEM44 | c.1018-11A= (n.1018-11A=) c.1018-15A= (n.1018-15A=) c.1159-11A= (n.1159-11A=) c.*314-11A= (n.*314-11A=) c.214-15A= (n.214-15A=) c.292-11A= (n.292-11A=) c.517-11A= (n.517-11A=) n.64-11A= n.782-11A= c.1168-11A= (n.1168-11A=) c.1105-11A= (n.1105-11A=) c.1216-11A= (n.1216-11A=) c.1084-11A= (n.1084-11A=) c.1075-11A= (n.1075-11A=) c.913-11A= (n.913-11A=) c.1027-11A= (n.1027-11A=) | |
3 | g.194604457G>A | CA1430709440 | TMEM44 | c.1018-12C>T (n.1018-12C>T) c.1018-16C>T (n.1018-16C>T) c.1159-12C>T (n.1159-12C>T) c.*314-12C>T (n.*314-12C>T) c.214-16C>T (n.214-16C>T) c.292-12C>T (n.292-12C>T) c.517-12C>T (n.517-12C>T) n.64-12C>T n.782-12C>T c.1168-12C>T (n.1168-12C>T) c.1105-12C>T (n.1105-12C>T) c.1216-12C>T (n.1216-12C>T) c.1084-12C>T (n.1084-12C>T) c.1075-12C>T (n.1075-12C>T) c.913-12C>T (n.913-12C>T) c.1027-12C>T (n.1027-12C>T) | dbSNP gnomAD v4 |
3 | g.194604457G>C | CA2669137853 | TMEM44 | c.1018-12C>G (n.1018-12C>G) c.1018-16C>G (n.1018-16C>G) c.1159-12C>G (n.1159-12C>G) c.*314-12C>G (n.*314-12C>G) c.214-16C>G (n.214-16C>G) c.292-12C>G (n.292-12C>G) c.517-12C>G (n.517-12C>G) n.64-12C>G n.782-12C>G c.1168-12C>G (n.1168-12C>G) c.1105-12C>G (n.1105-12C>G) c.1216-12C>G (n.1216-12C>G) c.1084-12C>G (n.1084-12C>G) c.1075-12C>G (n.1075-12C>G) c.913-12C>G (n.913-12C>G) c.1027-12C>G (n.1027-12C>G) | gnomAD v4 |
3 | g.194604457G= | CA1430709439 | TMEM44 | c.1018-12C= (n.1018-12C=) c.1018-16C= (n.1018-16C=) c.1159-12C= (n.1159-12C=) c.*314-12C= (n.*314-12C=) c.214-16C= (n.214-16C=) c.292-12C= (n.292-12C=) c.517-12C= (n.517-12C=) n.64-12C= n.782-12C= c.1168-12C= (n.1168-12C=) c.1105-12C= (n.1105-12C=) c.1216-12C= (n.1216-12C=) c.1084-12C= (n.1084-12C=) c.1075-12C= (n.1075-12C=) c.913-12C= (n.913-12C=) c.1027-12C= (n.1027-12C=) | |
3 | g.194604458T>G | CA2577996356 | TMEM44 | c.1018-13A>C (n.1018-13A>C) c.1018-17A>C (n.1018-17A>C) c.1159-13A>C (n.1159-13A>C) c.*314-13A>C (n.*314-13A>C) c.214-17A>C (n.214-17A>C) c.292-13A>C (n.292-13A>C) c.517-13A>C (n.517-13A>C) n.64-13A>C n.782-13A>C c.1168-13A>C (n.1168-13A>C) c.1105-13A>C (n.1105-13A>C) c.1216-13A>C (n.1216-13A>C) c.1084-13A>C (n.1084-13A>C) c.1075-13A>C (n.1075-13A>C) c.913-13A>C (n.913-13A>C) c.1027-13A>C (n.1027-13A>C) | gnomAD v4 |
3 | g.194604459G>A | CA2669137854 | TMEM44 | c.1018-14C>T (n.1018-14C>T) c.1018-18C>T (n.1018-18C>T) c.1159-14C>T (n.1159-14C>T) c.*314-14C>T (n.*314-14C>T) c.214-18C>T (n.214-18C>T) c.292-14C>T (n.292-14C>T) c.517-14C>T (n.517-14C>T) n.64-14C>T n.782-14C>T c.1168-14C>T (n.1168-14C>T) c.1105-14C>T (n.1105-14C>T) c.1216-14C>T (n.1216-14C>T) c.1084-14C>T (n.1084-14C>T) c.1075-14C>T (n.1075-14C>T) c.913-14C>T (n.913-14C>T) c.1027-14C>T (n.1027-14C>T) | gnomAD v4 |
3 | g.194604459G>T | CA2669137855 | TMEM44 | c.1018-14C>A (n.1018-14C>A) c.1018-18C>A (n.1018-18C>A) c.1159-14C>A (n.1159-14C>A) c.*314-14C>A (n.*314-14C>A) c.214-18C>A (n.214-18C>A) c.292-14C>A (n.292-14C>A) c.517-14C>A (n.517-14C>A) n.64-14C>A n.782-14C>A c.1168-14C>A (n.1168-14C>A) c.1105-14C>A (n.1105-14C>A) c.1216-14C>A (n.1216-14C>A) c.1084-14C>A (n.1084-14C>A) c.1075-14C>A (n.1075-14C>A) c.913-14C>A (n.913-14C>A) c.1027-14C>A (n.1027-14C>A) | gnomAD v4 |
3 | g.194604460A>G | CA2669137856 | TMEM44 | c.1018-15T>C (n.1018-15T>C) c.1018-19T>C (n.1018-19T>C) c.1159-15T>C (n.1159-15T>C) c.*314-15T>C (n.*314-15T>C) c.214-19T>C (n.214-19T>C) c.292-15T>C (n.292-15T>C) c.517-15T>C (n.517-15T>C) n.64-15T>C n.782-15T>C c.1168-15T>C (n.1168-15T>C) c.1105-15T>C (n.1105-15T>C) c.1216-15T>C (n.1216-15T>C) c.1084-15T>C (n.1084-15T>C) c.1075-15T>C (n.1075-15T>C) c.913-15T>C (n.913-15T>C) c.1027-15T>C (n.1027-15T>C) | gnomAD v4 |
3 | g.194604460_194604461delinsAG | CA1430709441 | TMEM44 | c.1018-16_1018-15delinsCT (n.1018-16_1018-15delinsCT) c.1018-20_1018-19delinsCT (n.1018-20_1018-19delinsCT) c.1159-16_1159-15delinsCT (n.1159-16_1159-15delinsCT) c.*314-16_*314-15delinsCT (n.*314-16_*314-15delinsCT) c.214-20_214-19delinsCT (n.214-20_214-19delinsCT) c.292-16_292-15delinsCT (n.292-16_292-15delinsCT) c.517-16_517-15delinsCT (n.517-16_517-15delinsCT) n.64-16_64-15delinsCT n.782-16_782-15delinsCT c.1168-16_1168-15delinsCT (n.1168-16_1168-15delinsCT) c.1105-16_1105-15delinsCT (n.1105-16_1105-15delinsCT) c.1216-16_1216-15delinsCT (n.1216-16_1216-15delinsCT) c.1084-16_1084-15delinsCT (n.1084-16_1084-15delinsCT) c.1075-16_1075-15delinsCT (n.1075-16_1075-15delinsCT) c.913-16_913-15delinsCT (n.913-16_913-15delinsCT) c.1027-16_1027-15delinsCT (n.1027-16_1027-15delinsCT) | |
3 | g.194604461del | CA1057958761 | TMEM44 | c.1018-16del (n.1018-16del) c.1018-20del (n.1018-20del) c.1159-16del (n.1159-16del) c.*314-16del (n.*314-16del) c.214-20del (n.214-20del) c.292-16del (n.292-16del) c.517-16del (n.517-16del) n.64-16del n.782-16del c.1168-16del (n.1168-16del) c.1105-16del (n.1105-16del) c.1216-16del (n.1216-16del) c.1084-16del (n.1084-16del) c.1075-16del (n.1075-16del) c.913-16del (n.913-16del) c.1027-16del (n.1027-16del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604461G>A | CA548848424 | TMEM44 | c.1018-16C>T (n.1018-16C>T) c.1018-20C>T (n.1018-20C>T) c.1159-16C>T (n.1159-16C>T) c.*314-16C>T (n.*314-16C>T) c.214-20C>T (n.214-20C>T) c.292-16C>T (n.292-16C>T) c.517-16C>T (n.517-16C>T) n.64-16C>T n.782-16C>T c.1168-16C>T (n.1168-16C>T) c.1105-16C>T (n.1105-16C>T) c.1216-16C>T (n.1216-16C>T) c.1084-16C>T (n.1084-16C>T) c.1075-16C>T (n.1075-16C>T) c.913-16C>T (n.913-16C>T) c.1027-16C>T (n.1027-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.194604461G>C | CA2669137858 | TMEM44 | c.1018-16C>G (n.1018-16C>G) c.1018-20C>G (n.1018-20C>G) c.1159-16C>G (n.1159-16C>G) c.*314-16C>G (n.*314-16C>G) c.214-20C>G (n.214-20C>G) c.292-16C>G (n.292-16C>G) c.517-16C>G (n.517-16C>G) n.64-16C>G n.782-16C>G c.1168-16C>G (n.1168-16C>G) c.1105-16C>G (n.1105-16C>G) c.1216-16C>G (n.1216-16C>G) c.1084-16C>G (n.1084-16C>G) c.1075-16C>G (n.1075-16C>G) c.913-16C>G (n.913-16C>G) c.1027-16C>G (n.1027-16C>G) | gnomAD v4 |
3 | g.194604461G= | CA1430709442 | TMEM44 | c.1018-16C= (n.1018-16C=) c.1018-20C= (n.1018-20C=) c.1159-16C= (n.1159-16C=) c.*314-16C= (n.*314-16C=) c.214-20C= (n.214-20C=) c.292-16C= (n.292-16C=) c.517-16C= (n.517-16C=) n.64-16C= n.782-16C= c.1168-16C= (n.1168-16C=) c.1105-16C= (n.1105-16C=) c.1216-16C= (n.1216-16C=) c.1084-16C= (n.1084-16C=) c.1075-16C= (n.1075-16C=) c.913-16C= (n.913-16C=) c.1027-16C= (n.1027-16C=) | |
3 | g.194604461G>T | CA2669137857 | TMEM44 | c.1018-16C>A (n.1018-16C>A) c.1018-20C>A (n.1018-20C>A) c.1159-16C>A (n.1159-16C>A) c.*314-16C>A (n.*314-16C>A) c.214-20C>A (n.214-20C>A) c.292-16C>A (n.292-16C>A) c.517-16C>A (n.517-16C>A) n.64-16C>A n.782-16C>A c.1168-16C>A (n.1168-16C>A) c.1105-16C>A (n.1105-16C>A) c.1216-16C>A (n.1216-16C>A) c.1084-16C>A (n.1084-16C>A) c.1075-16C>A (n.1075-16C>A) c.913-16C>A (n.913-16C>A) c.1027-16C>A (n.1027-16C>A) | gnomAD v4 |
3 | g.194604462A= | CA1430709443 | TMEM44 | c.1018-17T= (n.1018-17T=) c.1018-21T= (n.1018-21T=) c.1159-17T= (n.1159-17T=) c.*314-17T= (n.*314-17T=) c.214-21T= (n.214-21T=) c.292-17T= (n.292-17T=) c.517-17T= (n.517-17T=) n.64-17T= n.782-17T= c.1168-17T= (n.1168-17T=) c.1105-17T= (n.1105-17T=) c.1216-17T= (n.1216-17T=) c.1084-17T= (n.1084-17T=) c.1075-17T= (n.1075-17T=) c.913-17T= (n.913-17T=) c.1027-17T= (n.1027-17T=) | |
3 | g.194604462A>G | CA90641573 | TMEM44 | c.1018-17T>C (n.1018-17T>C) c.1018-21T>C (n.1018-21T>C) c.1159-17T>C (n.1159-17T>C) c.*314-17T>C (n.*314-17T>C) c.214-21T>C (n.214-21T>C) c.292-17T>C (n.292-17T>C) c.517-17T>C (n.517-17T>C) n.64-17T>C n.782-17T>C c.1168-17T>C (n.1168-17T>C) c.1105-17T>C (n.1105-17T>C) c.1216-17T>C (n.1216-17T>C) c.1084-17T>C (n.1084-17T>C) c.1075-17T>C (n.1075-17T>C) c.913-17T>C (n.913-17T>C) c.1027-17T>C (n.1027-17T>C) | dbSNP |
3 | g.194604462_194604472delinsAAAGGGCAGGC | CA1430709444 | TMEM44 | c.1018-27_1018-17delinsGCCTGCCCTTT (n.1018-27_1018-17delinsGCCTGCCCTTT) c.1018-31_1018-21delinsGCCTGCCCTTT (n.1018-31_1018-21delinsGCCTGCCCTTT) c.1159-27_1159-17delinsGCCTGCCCTTT (n.1159-27_1159-17delinsGCCTGCCCTTT) c.*314-27_*314-17delinsGCCTGCCCTTT (n.*314-27_*314-17delinsGCCTGCCCTTT) c.214-31_214-21delinsGCCTGCCCTTT (n.214-31_214-21delinsGCCTGCCCTTT) c.292-27_292-17delinsGCCTGCCCTTT (n.292-27_292-17delinsGCCTGCCCTTT) c.517-27_517-17delinsGCCTGCCCTTT (n.517-27_517-17delinsGCCTGCCCTTT) n.64-27_64-17delinsGCCTGCCCTTT n.782-27_782-17delinsGCCTGCCCTTT c.1168-27_1168-17delinsGCCTGCCCTTT (n.1168-27_1168-17delinsGCCTGCCCTTT) c.1105-27_1105-17delinsGCCTGCCCTTT (n.1105-27_1105-17delinsGCCTGCCCTTT) c.1216-27_1216-17delinsGCCTGCCCTTT (n.1216-27_1216-17delinsGCCTGCCCTTT) c.1084-27_1084-17delinsGCCTGCCCTTT (n.1084-27_1084-17delinsGCCTGCCCTTT) c.1075-27_1075-17delinsGCCTGCCCTTT (n.1075-27_1075-17delinsGCCTGCCCTTT) c.913-27_913-17delinsGCCTGCCCTTT (n.913-27_913-17delinsGCCTGCCCTTT) c.1027-27_1027-17delinsGCCTGCCCTTT (n.1027-27_1027-17delinsGCCTGCCCTTT) | |
3 | g.194604463A>T | CA2669137859 | TMEM44 | c.1018-18T>A (n.1018-18T>A) c.1018-22T>A (n.1018-22T>A) c.1159-18T>A (n.1159-18T>A) c.*314-18T>A (n.*314-18T>A) c.214-22T>A (n.214-22T>A) c.292-18T>A (n.292-18T>A) c.517-18T>A (n.517-18T>A) n.64-18T>A n.782-18T>A c.1168-18T>A (n.1168-18T>A) c.1105-18T>A (n.1105-18T>A) c.1216-18T>A (n.1216-18T>A) c.1084-18T>A (n.1084-18T>A) c.1075-18T>A (n.1075-18T>A) c.913-18T>A (n.913-18T>A) c.1027-18T>A (n.1027-18T>A) | gnomAD v4 |
3 | g.194604467_194604476del | CA1430709445 | TMEM44 | c.1018-27_1018-18del (n.1018-27_1018-18del) c.1018-31_1018-22del (n.1018-31_1018-22del) c.1159-27_1159-18del (n.1159-27_1159-18del) c.*314-27_*314-18del (n.*314-27_*314-18del) c.214-31_214-22del (n.214-31_214-22del) c.292-27_292-18del (n.292-27_292-18del) c.517-27_517-18del (n.517-27_517-18del) n.64-27_64-18del n.782-27_782-18del c.1168-27_1168-18del (n.1168-27_1168-18del) c.1105-27_1105-18del (n.1105-27_1105-18del) c.1216-27_1216-18del (n.1216-27_1216-18del) c.1084-27_1084-18del (n.1084-27_1084-18del) c.1075-27_1075-18del (n.1075-27_1075-18del) c.913-27_913-18del (n.913-27_913-18del) c.1027-27_1027-18del (n.1027-27_1027-18del) | dbSNP |
3 | g.194604465G>T | CA2669137860 | TMEM44 | c.1018-20C>A (n.1018-20C>A) c.1018-24C>A (n.1018-24C>A) c.1159-20C>A (n.1159-20C>A) c.*314-20C>A (n.*314-20C>A) c.214-24C>A (n.214-24C>A) c.292-20C>A (n.292-20C>A) c.517-20C>A (n.517-20C>A) n.64-20C>A n.782-20C>A c.1168-20C>A (n.1168-20C>A) c.1105-20C>A (n.1105-20C>A) c.1216-20C>A (n.1216-20C>A) c.1084-20C>A (n.1084-20C>A) c.1075-20C>A (n.1075-20C>A) c.913-20C>A (n.913-20C>A) c.1027-20C>A (n.1027-20C>A) | gnomAD v4 |
3 | g.194604467G>A | CA1057958765 | TMEM44 | c.1018-22C>T (n.1018-22C>T) c.1018-26C>T (n.1018-26C>T) c.1159-22C>T (n.1159-22C>T) c.*314-22C>T (n.*314-22C>T) c.214-26C>T (n.214-26C>T) c.292-22C>T (n.292-22C>T) c.517-22C>T (n.517-22C>T) n.64-22C>T n.782-22C>T c.1168-22C>T (n.1168-22C>T) c.1105-22C>T (n.1105-22C>T) c.1216-22C>T (n.1216-22C>T) c.1084-22C>T (n.1084-22C>T) c.1075-22C>T (n.1075-22C>T) c.913-22C>T (n.913-22C>T) c.1027-22C>T (n.1027-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.194604467G>C | CA2669137861 | TMEM44 | c.1018-22C>G (n.1018-22C>G) c.1018-26C>G (n.1018-26C>G) c.1159-22C>G (n.1159-22C>G) c.*314-22C>G (n.*314-22C>G) c.214-26C>G (n.214-26C>G) c.292-22C>G (n.292-22C>G) c.517-22C>G (n.517-22C>G) n.64-22C>G n.782-22C>G c.1168-22C>G (n.1168-22C>G) c.1105-22C>G (n.1105-22C>G) c.1216-22C>G (n.1216-22C>G) c.1084-22C>G (n.1084-22C>G) c.1075-22C>G (n.1075-22C>G) c.913-22C>G (n.913-22C>G) c.1027-22C>G (n.1027-22C>G) | gnomAD v4 |
3 | g.194604467G= | CA1430709446 | TMEM44 | c.1018-22C= (n.1018-22C=) c.1018-26C= (n.1018-26C=) c.1159-22C= (n.1159-22C=) c.*314-22C= (n.*314-22C=) c.214-26C= (n.214-26C=) c.292-22C= (n.292-22C=) c.517-22C= (n.517-22C=) n.64-22C= n.782-22C= c.1168-22C= (n.1168-22C=) c.1105-22C= (n.1105-22C=) c.1216-22C= (n.1216-22C=) c.1084-22C= (n.1084-22C=) c.1075-22C= (n.1075-22C=) c.913-22C= (n.913-22C=) c.1027-22C= (n.1027-22C=) | |
3 | g.194604467G>T | CA2669137862 | TMEM44 | c.1018-22C>A (n.1018-22C>A) c.1018-26C>A (n.1018-26C>A) c.1159-22C>A (n.1159-22C>A) c.*314-22C>A (n.*314-22C>A) c.214-26C>A (n.214-26C>A) c.292-22C>A (n.292-22C>A) c.517-22C>A (n.517-22C>A) n.64-22C>A n.782-22C>A c.1168-22C>A (n.1168-22C>A) c.1105-22C>A (n.1105-22C>A) c.1216-22C>A (n.1216-22C>A) c.1084-22C>A (n.1084-22C>A) c.1075-22C>A (n.1075-22C>A) c.913-22C>A (n.913-22C>A) c.1027-22C>A (n.1027-22C>A) | gnomAD v4 |
3 | g.194604468C>A | CA2669137863 | TMEM44 | c.1018-23G>T (n.1018-23G>T) c.1018-27G>T (n.1018-27G>T) c.1159-23G>T (n.1159-23G>T) c.*314-23G>T (n.*314-23G>T) c.214-27G>T (n.214-27G>T) c.292-23G>T (n.292-23G>T) c.517-23G>T (n.517-23G>T) n.64-23G>T n.782-23G>T c.1168-23G>T (n.1168-23G>T) c.1105-23G>T (n.1105-23G>T) c.1216-23G>T (n.1216-23G>T) c.1084-23G>T (n.1084-23G>T) c.1075-23G>T (n.1075-23G>T) c.913-23G>T (n.913-23G>T) c.1027-23G>T (n.1027-23G>T) | gnomAD v4 |
3 | g.194604468C= | CA1430709447 | TMEM44 | c.1018-23G= (n.1018-23G=) c.1018-27G= (n.1018-27G=) c.1159-23G= (n.1159-23G=) c.*314-23G= (n.*314-23G=) c.214-27G= (n.214-27G=) c.292-23G= (n.292-23G=) c.517-23G= (n.517-23G=) n.64-23G= n.782-23G= c.1168-23G= (n.1168-23G=) c.1105-23G= (n.1105-23G=) c.1216-23G= (n.1216-23G=) c.1084-23G= (n.1084-23G=) c.1075-23G= (n.1075-23G=) c.913-23G= (n.913-23G=) c.1027-23G= (n.1027-23G=) | |
3 | g.194604468C>T | CA1430709448 | TMEM44 | c.1018-23G>A (n.1018-23G>A) c.1018-27G>A (n.1018-27G>A) c.1159-23G>A (n.1159-23G>A) c.*314-23G>A (n.*314-23G>A) c.214-27G>A (n.214-27G>A) c.292-23G>A (n.292-23G>A) c.517-23G>A (n.517-23G>A) n.64-23G>A n.782-23G>A c.1168-23G>A (n.1168-23G>A) c.1105-23G>A (n.1105-23G>A) c.1216-23G>A (n.1216-23G>A) c.1084-23G>A (n.1084-23G>A) c.1075-23G>A (n.1075-23G>A) c.913-23G>A (n.913-23G>A) c.1027-23G>A (n.1027-23G>A) | dbSNP gnomAD v4 |