| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115414064T>A | CA372061843 | TRPS1 | c.3844A>T (p.Asn1282Tyr) c.3805A>T (p.Asn1269Tyr) c.3067A>T (p.Asn1023Tyr) c.3817A>T (p.Asn1273Tyr) c.3823A>T (p.Asn1275Tyr) | |
| 8 | g.115414064T>C | CA372061844 | TRPS1 | c.3844A>G (p.Asn1282Asp) c.3805A>G (p.Asn1269Asp) c.3067A>G (p.Asn1023Asp) c.3817A>G (p.Asn1273Asp) c.3823A>G (p.Asn1275Asp) | |
| 8 | g.115414064T>G | CA372061845 | TRPS1 | c.3844A>C (p.Asn1282His) c.3805A>C (p.Asn1269His) c.3067A>C (p.Asn1023His) c.3817A>C (p.Asn1273His) c.3823A>C (p.Asn1275His) | |
| 8 | g.115414065C>A | CA372061846 | TRPS1 | c.3843G>T (p.Arg1281Ser) c.3804G>T (p.Arg1268Ser) c.3066G>T (p.Arg1022Ser) c.3816G>T (p.Arg1272Ser) c.3822G>T (p.Arg1274Ser) | |
| 8 | g.115414065C= | CA1812853570 | TRPS1 | c.3843G= (p.Arg1281=) c.3804G= (p.Arg1268=) c.3066G= (p.Arg1022=) c.3816G= (p.Arg1272=) c.3822G= (p.Arg1274=) | |
| 8 | g.115414065C>G | CA372061847 | TRPS1 | c.3843G>C (p.Arg1281Ser) c.3804G>C (p.Arg1268Ser) c.3066G>C (p.Arg1022Ser) c.3816G>C (p.Arg1272Ser) c.3822G>C (p.Arg1274Ser) | gnomAD v4 |
| 8 | g.115414065C>T | CA184469220 | TRPS1 | c.3843G>A (p.Arg1281=) c.3804G>A (p.Arg1268=) c.3066G>A (p.Arg1022=) c.3816G>A (p.Arg1272=) c.3822G>A (p.Arg1274=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414066C>A | CA372061848 | TRPS1 | c.3842G>T (p.Arg1281Met) c.3803G>T (p.Arg1268Met) c.3065G>T (p.Arg1022Met) c.3815G>T (p.Arg1272Met) c.3821G>T (p.Arg1274Met) | |
| 8 | g.115414066C>G | CA372061849 | TRPS1 | c.3842G>C (p.Arg1281Thr) c.3803G>C (p.Arg1268Thr) c.3065G>C (p.Arg1022Thr) c.3815G>C (p.Arg1272Thr) c.3821G>C (p.Arg1274Thr) | |
| 8 | g.115414066C>T | CA372061850 | TRPS1 | c.3842G>A (p.Arg1281Lys) c.3803G>A (p.Arg1268Lys) c.3065G>A (p.Arg1022Lys) c.3815G>A (p.Arg1272Lys) c.3821G>A (p.Arg1274Lys) | |
| 8 | g.115414067T>A | CA372061851 | TRPS1 | c.3841A>T (p.Arg1281Trp) c.3802A>T (p.Arg1268Trp) c.3064A>T (p.Arg1022Trp) c.3814A>T (p.Arg1272Trp) c.3820A>T (p.Arg1274Trp) | |
| 8 | g.115414067T>C | CA372061852 | TRPS1 | c.3841A>G (p.Arg1281Gly) c.3802A>G (p.Arg1268Gly) c.3064A>G (p.Arg1022Gly) c.3814A>G (p.Arg1272Gly) c.3820A>G (p.Arg1274Gly) | dbSNP COSMIC COSMIC |
| 8 | g.115414067T>G | CA462657967 | TRPS1 | c.3841A>C (p.Arg1281=) c.3802A>C (p.Arg1268=) c.3064A>C (p.Arg1022=) c.3814A>C (p.Arg1272=) c.3820A>C (p.Arg1274=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414067T= | CA1812853574 | TRPS1 | c.3841A= (p.Arg1281=) c.3802A= (p.Arg1268=) c.3064A= (p.Arg1022=) c.3814A= (p.Arg1272=) c.3820A= (p.Arg1274=) | |
| 8 | g.115414068A= | CA1812853577 | TRPS1 | c.3840T= (p.His1280=) c.3801T= (p.His1267=) c.3063T= (p.His1021=) c.3813T= (p.His1271=) c.3819T= (p.His1273=) | |
| 8 | g.115414068A>C | CA372061853 | TRPS1 | c.3840T>G (p.His1280Gln) c.3801T>G (p.His1267Gln) c.3063T>G (p.His1021Gln) c.3813T>G (p.His1271Gln) c.3819T>G (p.His1273Gln) | |
| 8 | g.115414068A>G | CA462657970 | TRPS1 | c.3840T>C (p.His1280=) c.3801T>C (p.His1267=) c.3063T>C (p.His1021=) c.3813T>C (p.His1271=) c.3819T>C (p.His1273=) | dbSNP |
| 8 | g.115414068A>T | CA372061854 | TRPS1 | c.3840T>A (p.His1280Gln) c.3801T>A (p.His1267Gln) c.3063T>A (p.His1021Gln) c.3813T>A (p.His1271Gln) c.3819T>A (p.His1273Gln) | |
| 8 | g.115414069T>A | CA372061855 | TRPS1 | c.3839A>T (p.His1280Leu) c.3800A>T (p.His1267Leu) c.3062A>T (p.His1021Leu) c.3812A>T (p.His1271Leu) c.3818A>T (p.His1273Leu) | |
| 8 | g.115414069T>C | CA372061856 | TRPS1 | c.3839A>G (p.His1280Arg) c.3800A>G (p.His1267Arg) c.3062A>G (p.His1021Arg) c.3812A>G (p.His1271Arg) c.3818A>G (p.His1273Arg) | |
| 8 | g.115414069T>G | CA372061857 | TRPS1 | c.3839A>C (p.His1280Pro) c.3800A>C (p.His1267Pro) c.3062A>C (p.His1021Pro) c.3812A>C (p.His1271Pro) c.3818A>C (p.His1273Pro) | |
| 8 | g.115414070G>A | CA372061858 | TRPS1 | c.3838C>T (p.His1280Tyr) c.3799C>T (p.His1267Tyr) c.3061C>T (p.His1021Tyr) c.3811C>T (p.His1271Tyr) c.3817C>T (p.His1273Tyr) | |
| 8 | g.115414070G>C | CA372061859 | TRPS1 | c.3838C>G (p.His1280Asp) c.3799C>G (p.His1267Asp) c.3061C>G (p.His1021Asp) c.3811C>G (p.His1271Asp) c.3817C>G (p.His1273Asp) | |
| 8 | g.115414070G>T | CA372061860 | TRPS1 | c.3838C>A (p.His1280Asn) c.3799C>A (p.His1267Asn) c.3061C>A (p.His1021Asn) c.3811C>A (p.His1271Asn) c.3817C>A (p.His1273Asn) | |
| 8 | g.115414071C>A | CA462657980 | TRPS1 | c.3837G>T (p.Leu1279=) c.3798G>T (p.Leu1266=) c.3060G>T (p.Leu1020=) c.3810G>T (p.Leu1270=) c.3816G>T (p.Leu1272=) | COSMIC COSMIC |
| 8 | g.115414071C= | CA1812853579 | TRPS1 | c.3837G= (p.Leu1279=) c.3798G= (p.Leu1266=) c.3060G= (p.Leu1020=) c.3810G= (p.Leu1270=) c.3816G= (p.Leu1272=) | |
| 8 | g.115414071C>G | CA462657984 | TRPS1 | c.3837G>C (p.Leu1279=) c.3798G>C (p.Leu1266=) c.3060G>C (p.Leu1020=) c.3810G>C (p.Leu1270=) c.3816G>C (p.Leu1272=) | |
| 8 | g.115414071C>T | CA462657982 | TRPS1 | c.3837G>A (p.Leu1279=) c.3798G>A (p.Leu1266=) c.3060G>A (p.Leu1020=) c.3810G>A (p.Leu1270=) c.3816G>A (p.Leu1272=) | dbSNP gnomAD v2 |
| 8 | g.115414072A= | CA1812853584 | TRPS1 | c.3836T= (p.Leu1279=) c.3797T= (p.Leu1266=) c.3059T= (p.Leu1020=) c.3809T= (p.Leu1270=) c.3815T= (p.Leu1272=) | |
| 8 | g.115414072A>C | CA372061861 | TRPS1 | c.3836T>G (p.Leu1279Arg) c.3797T>G (p.Leu1266Arg) c.3059T>G (p.Leu1020Arg) c.3809T>G (p.Leu1270Arg) c.3815T>G (p.Leu1272Arg) | |
| 8 | g.115414072A>G | CA372061862 | TRPS1 | c.3836T>C (p.Leu1279Pro) c.3797T>C (p.Leu1266Pro) c.3059T>C (p.Leu1020Pro) c.3809T>C (p.Leu1270Pro) c.3815T>C (p.Leu1272Pro) | dbSNP |
| 8 | g.115414072A>T | CA372061863 | TRPS1 | c.3836T>A (p.Leu1279Gln) c.3797T>A (p.Leu1266Gln) c.3059T>A (p.Leu1020Gln) c.3809T>A (p.Leu1270Gln) c.3815T>A (p.Leu1272Gln) | |
| 8 | g.115414073G>A | CA462657990 | TRPS1 | c.3835C>T (p.Leu1279=) c.3796C>T (p.Leu1266=) c.3058C>T (p.Leu1020=) c.3808C>T (p.Leu1270=) c.3814C>T (p.Leu1272=) | |
| 8 | g.115414073G>C | CA372061864 | TRPS1 | c.3835C>G (p.Leu1279Val) c.3796C>G (p.Leu1266Val) c.3058C>G (p.Leu1020Val) c.3808C>G (p.Leu1270Val) c.3814C>G (p.Leu1272Val) | |
| 8 | g.115414073G>T | CA372061865 | TRPS1 | c.3835C>A (p.Leu1279Met) c.3796C>A (p.Leu1266Met) c.3058C>A (p.Leu1020Met) c.3808C>A (p.Leu1270Met) c.3814C>A (p.Leu1272Met) | |
| 8 | g.115414074G>A | CA462657994 | TRPS1 | c.3834C>T (p.Gly1278=) c.3795C>T (p.Gly1265=) c.3057C>T (p.Gly1019=) c.3807C>T (p.Gly1269=) c.3813C>T (p.Gly1271=) | gnomAD v4 |
| 8 | g.115414074G>C | CA462657996 | TRPS1 | c.3834C>G (p.Gly1278=) c.3795C>G (p.Gly1265=) c.3057C>G (p.Gly1019=) c.3807C>G (p.Gly1269=) c.3813C>G (p.Gly1271=) | |
| 8 | g.115414074G>T | CA462657997 | TRPS1 | c.3834C>A (p.Gly1278=) c.3795C>A (p.Gly1265=) c.3057C>A (p.Gly1019=) c.3807C>A (p.Gly1269=) c.3813C>A (p.Gly1271=) | gnomAD v4 |
| 8 | g.115414075C>A | CA372061866 | TRPS1 | c.3833G>T (p.Gly1278Val) c.3794G>T (p.Gly1265Val) c.3056G>T (p.Gly1019Val) c.3806G>T (p.Gly1269Val) c.3812G>T (p.Gly1271Val) | |
| 8 | g.115414075C= | CA1812853586 | TRPS1 | c.3833G= (p.Gly1278=) c.3794G= (p.Gly1265=) c.3056G= (p.Gly1019=) c.3806G= (p.Gly1269=) c.3812G= (p.Gly1271=) | |
| 8 | g.115414075C>G | CA4851440 | TRPS1 | c.3833G>C (p.Gly1278Ala) c.3794G>C (p.Gly1265Ala) c.3056G>C (p.Gly1019Ala) c.3806G>C (p.Gly1269Ala) c.3812G>C (p.Gly1271Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414075C>T | CA184469227 | TRPS1 | c.3833G>A (p.Gly1278Asp) c.3794G>A (p.Gly1265Asp) c.3056G>A (p.Gly1019Asp) c.3806G>A (p.Gly1269Asp) c.3812G>A (p.Gly1271Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414076C>A | CA372061867 | TRPS1 | c.3832G>T (p.Gly1278Cys) c.3793G>T (p.Gly1265Cys) c.3055G>T (p.Gly1019Cys) c.3805G>T (p.Gly1269Cys) c.3811G>T (p.Gly1271Cys) | |
| 8 | g.115414076C>G | CA372061868 | TRPS1 | c.3832G>C (p.Gly1278Arg) c.3793G>C (p.Gly1265Arg) c.3055G>C (p.Gly1019Arg) c.3805G>C (p.Gly1269Arg) c.3811G>C (p.Gly1271Arg) | |
| 8 | g.115414076C>T | CA372061869 | TRPS1 | c.3832G>A (p.Gly1278Ser) c.3793G>A (p.Gly1265Ser) c.3055G>A (p.Gly1019Ser) c.3805G>A (p.Gly1269Ser) c.3811G>A (p.Gly1271Ser) | |
| 8 | g.115414077C>A | CA372061870 | TRPS1 | c.3831G>T (p.Arg1277Ser) c.3792G>T (p.Arg1264Ser) c.3054G>T (p.Arg1018Ser) c.3804G>T (p.Arg1268Ser) c.3810G>T (p.Arg1270Ser) | |
| 8 | g.115414077C= | CA1812853589 | TRPS1 | c.3831G= (p.Arg1277=) c.3792G= (p.Arg1264=) c.3054G= (p.Arg1018=) c.3804G= (p.Arg1268=) c.3810G= (p.Arg1270=) | |
| 8 | g.115414077C>G | CA372061871 | TRPS1 | c.3831G>C (p.Arg1277Ser) c.3792G>C (p.Arg1264Ser) c.3054G>C (p.Arg1018Ser) c.3804G>C (p.Arg1268Ser) c.3810G>C (p.Arg1270Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414077C>T | CA462658005 | TRPS1 | c.3831G>A (p.Arg1277=) c.3792G>A (p.Arg1264=) c.3054G>A (p.Arg1018=) c.3804G>A (p.Arg1268=) c.3810G>A (p.Arg1270=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414078C>A | CA372061872 | TRPS1 | c.3830G>T (p.Arg1277Met) c.3791G>T (p.Arg1264Met) c.3053G>T (p.Arg1018Met) c.3803G>T (p.Arg1268Met) c.3809G>T (p.Arg1270Met) | |
| 8 | g.115414078C= | CA1812853593 | TRPS1 | c.3830G= (p.Arg1277=) c.3791G= (p.Arg1264=) c.3053G= (p.Arg1018=) c.3803G= (p.Arg1268=) c.3809G= (p.Arg1270=) | |
| 8 | g.115414078C>G | CA372061873 | TRPS1 | c.3830G>C (p.Arg1277Thr) c.3791G>C (p.Arg1264Thr) c.3053G>C (p.Arg1018Thr) c.3803G>C (p.Arg1268Thr) c.3809G>C (p.Arg1270Thr) | |
| 8 | g.115414078C>T | CA4851441 | TRPS1 | c.3830G>A (p.Arg1277Lys) c.3791G>A (p.Arg1264Lys) c.3053G>A (p.Arg1018Lys) c.3803G>A (p.Arg1268Lys) c.3809G>A (p.Arg1270Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414079T>A | CA372061874 | TRPS1 | c.3829A>T (p.Arg1277Trp) c.3790A>T (p.Arg1264Trp) c.3052A>T (p.Arg1018Trp) c.3802A>T (p.Arg1268Trp) c.3808A>T (p.Arg1270Trp) | |
| 8 | g.115414079T>C | CA372061875 | TRPS1 | c.3829A>G (p.Arg1277Gly) c.3790A>G (p.Arg1264Gly) c.3052A>G (p.Arg1018Gly) c.3802A>G (p.Arg1268Gly) c.3808A>G (p.Arg1270Gly) | |
| 8 | g.115414079T>G | CA462658014 | TRPS1 | c.3829A>C (p.Arg1277=) c.3790A>C (p.Arg1264=) c.3052A>C (p.Arg1018=) c.3802A>C (p.Arg1268=) c.3808A>C (p.Arg1270=) | dbSNP |
| 8 | g.115414080C>A | CA372061876 | TRPS1 | c.3828G>T (p.Gln1276His) c.3789G>T (p.Gln1263His) c.3051G>T (p.Gln1017His) c.3801G>T (p.Gln1267His) c.3807G>T (p.Gln1269His) | COSMIC COSMIC |
| 8 | g.115414080C>G | CA372061877 | TRPS1 | c.3828G>C (p.Gln1276His) c.3789G>C (p.Gln1263His) c.3051G>C (p.Gln1017His) c.3801G>C (p.Gln1267His) c.3807G>C (p.Gln1269His) | |
| 8 | g.115414080C>T | CA462658017 | TRPS1 | c.3828G>A (p.Gln1276=) c.3789G>A (p.Gln1263=) c.3051G>A (p.Gln1017=) c.3801G>A (p.Gln1267=) c.3807G>A (p.Gln1269=) | |
| 8 | g.115414081T>A | CA372061880 | TRPS1 | c.3827A>T (p.Gln1276Leu) c.3788A>T (p.Gln1263Leu) c.3050A>T (p.Gln1017Leu) c.3800A>T (p.Gln1267Leu) c.3806A>T (p.Gln1269Leu) | |
| 8 | g.115414081T>C | CA372061879 | TRPS1 | c.3827A>G (p.Gln1276Arg) c.3788A>G (p.Gln1263Arg) c.3050A>G (p.Gln1017Arg) c.3800A>G (p.Gln1267Arg) c.3806A>G (p.Gln1269Arg) | |
| 8 | g.115414081T>G | CA372061878 | TRPS1 | c.3827A>C (p.Gln1276Pro) c.3788A>C (p.Gln1263Pro) c.3050A>C (p.Gln1017Pro) c.3800A>C (p.Gln1267Pro) c.3806A>C (p.Gln1269Pro) | |
| 8 | g.115414082G>A | CA372061881 | TRPS1 | c.3826C>T (p.Gln1276Ter) c.3787C>T (p.Gln1263Ter) c.3049C>T (p.Gln1017Ter) c.3799C>T (p.Gln1267Ter) c.3805C>T (p.Gln1269Ter) | |
| 8 | g.115414082G>C | CA372061882 | TRPS1 | c.3826C>G (p.Gln1276Glu) c.3787C>G (p.Gln1263Glu) c.3049C>G (p.Gln1017Glu) c.3799C>G (p.Gln1267Glu) c.3805C>G (p.Gln1269Glu) | |
| 8 | g.115414082G>T | CA372061883 | TRPS1 | c.3826C>A (p.Gln1276Lys) c.3787C>A (p.Gln1263Lys) c.3049C>A (p.Gln1017Lys) c.3799C>A (p.Gln1267Lys) c.3805C>A (p.Gln1269Lys) | |
| 8 | g.115414083G>A | CA462658028 | TRPS1 | c.3825C>T (p.Ile1275=) c.3786C>T (p.Ile1262=) c.3048C>T (p.Ile1016=) c.3798C>T (p.Ile1266=) c.3804C>T (p.Ile1268=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414083G>C | CA372061884 | TRPS1 | c.3825C>G (p.Ile1275Met) c.3786C>G (p.Ile1262Met) c.3048C>G (p.Ile1016Met) c.3798C>G (p.Ile1266Met) c.3804C>G (p.Ile1268Met) | |
| 8 | g.115414083G= | CA1812853596 | TRPS1 | c.3825C= (p.Ile1275=) c.3786C= (p.Ile1262=) c.3048C= (p.Ile1016=) c.3798C= (p.Ile1266=) c.3804C= (p.Ile1268=) | |
| 8 | g.115414083G>T | CA462658031 | TRPS1 | c.3825C>A (p.Ile1275=) c.3786C>A (p.Ile1262=) c.3048C>A (p.Ile1016=) c.3798C>A (p.Ile1266=) c.3804C>A (p.Ile1268=) | dbSNP |
| 8 | g.115414084A>C | CA372061885 | TRPS1 | c.3824T>G (p.Ile1275Ser) c.3785T>G (p.Ile1262Ser) c.3047T>G (p.Ile1016Ser) c.3797T>G (p.Ile1266Ser) c.3803T>G (p.Ile1268Ser) | |
| 8 | g.115414084A>G | CA372061886 | TRPS1 | c.3824T>C (p.Ile1275Thr) c.3785T>C (p.Ile1262Thr) c.3047T>C (p.Ile1016Thr) c.3797T>C (p.Ile1266Thr) c.3803T>C (p.Ile1268Thr) | COSMIC COSMIC |
| 8 | g.115414084A>T | CA372061887 | TRPS1 | c.3824T>A (p.Ile1275Asn) c.3785T>A (p.Ile1262Asn) c.3047T>A (p.Ile1016Asn) c.3797T>A (p.Ile1266Asn) c.3803T>A (p.Ile1268Asn) | |
| 8 | g.115414085T>A | CA372061888 | TRPS1 | c.3823A>T (p.Ile1275Phe) c.3784A>T (p.Ile1262Phe) c.3046A>T (p.Ile1016Phe) c.3796A>T (p.Ile1266Phe) c.3802A>T (p.Ile1268Phe) | |
| 8 | g.115414085T>C | CA372061889 | TRPS1 | c.3823A>G (p.Ile1275Val) c.3784A>G (p.Ile1262Val) c.3046A>G (p.Ile1016Val) c.3796A>G (p.Ile1266Val) c.3802A>G (p.Ile1268Val) | |
| 8 | g.115414085T>G | CA372061890 | TRPS1 | c.3823A>C (p.Ile1275Leu) c.3784A>C (p.Ile1262Leu) c.3046A>C (p.Ile1016Leu) c.3796A>C (p.Ile1266Leu) c.3802A>C (p.Ile1268Leu) | |
| 8 | g.115414086A>C | CA372061891 | TRPS1 | c.3822T>G (p.His1274Gln) c.3783T>G (p.His1261Gln) c.3045T>G (p.His1015Gln) c.3795T>G (p.His1265Gln) c.3801T>G (p.His1267Gln) | |
| 8 | g.115414086A>G | CA462658040 | TRPS1 | c.3822T>C (p.His1274=) c.3783T>C (p.His1261=) c.3045T>C (p.His1015=) c.3795T>C (p.His1265=) c.3801T>C (p.His1267=) | |
| 8 | g.115414086A>T | CA372061892 | TRPS1 | c.3822T>A (p.His1274Gln) c.3783T>A (p.His1261Gln) c.3045T>A (p.His1015Gln) c.3795T>A (p.His1265Gln) c.3801T>A (p.His1267Gln) | |
| 8 | g.115414087T>A | CA372061893 | TRPS1 | c.3821A>T (p.His1274Leu) c.3782A>T (p.His1261Leu) c.3044A>T (p.His1015Leu) c.3794A>T (p.His1265Leu) c.3800A>T (p.His1267Leu) | |
| 8 | g.115414087T>C | CA372061895 | TRPS1 | c.3821A>G (p.His1274Arg) c.3782A>G (p.His1261Arg) c.3044A>G (p.His1015Arg) c.3794A>G (p.His1265Arg) c.3800A>G (p.His1267Arg) | |
| 8 | g.115414087T>G | CA372061894 | TRPS1 | c.3821A>C (p.His1274Pro) c.3782A>C (p.His1261Pro) c.3044A>C (p.His1015Pro) c.3794A>C (p.His1265Pro) c.3800A>C (p.His1267Pro) | |
| 8 | g.115414089_115416214del | CA2573332827 | TRPS1 | c.2824-1128_3821del c.2785-1128_3782del c.2047-1128_3044del c.2797-1128_3794del c.2803-1128_3800del | |
| 8 | g.115414088G>A | CA372061896 | TRPS1 | c.3820C>T (p.His1274Tyr) c.3781C>T (p.His1261Tyr) c.3043C>T (p.His1015Tyr) c.3793C>T (p.His1265Tyr) c.3799C>T (p.His1267Tyr) | |
| 8 | g.115414088G>C | CA372061898 | TRPS1 | c.3820C>G (p.His1274Asp) c.3781C>G (p.His1261Asp) c.3043C>G (p.His1015Asp) c.3793C>G (p.His1265Asp) c.3799C>G (p.His1267Asp) | |
| 8 | g.115414088G>T | CA372061897 | TRPS1 | c.3820C>A (p.His1274Asn) c.3781C>A (p.His1261Asn) c.3043C>A (p.His1015Asn) c.3793C>A (p.His1265Asn) c.3799C>A (p.His1267Asn) | |
| 8 | g.115414089T>A | CA462658051 | TRPS1 | c.3819A>T (p.Thr1273=) c.3780A>T (p.Thr1260=) c.3042A>T (p.Thr1014=) c.3792A>T (p.Thr1264=) c.3798A>T (p.Thr1266=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414089T>C | CA4851442 | TRPS1 | c.3819A>G (p.Thr1273=) c.3780A>G (p.Thr1260=) c.3042A>G (p.Thr1014=) c.3792A>G (p.Thr1264=) c.3798A>G (p.Thr1266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414089T>G | CA462658054 | TRPS1 | c.3819A>C (p.Thr1273=) c.3780A>C (p.Thr1260=) c.3042A>C (p.Thr1014=) c.3792A>C (p.Thr1264=) c.3798A>C (p.Thr1266=) | |
| 8 | g.115414089T= | CA1812853597 | TRPS1 | c.3819A= (p.Thr1273=) c.3780A= (p.Thr1260=) c.3042A= (p.Thr1014=) c.3792A= (p.Thr1264=) c.3798A= (p.Thr1266=) | |
| 8 | g.115414090G>A | CA372061901 | TRPS1 | c.3818C>T (p.Thr1273Ile) c.3779C>T (p.Thr1260Ile) c.3041C>T (p.Thr1014Ile) c.3791C>T (p.Thr1264Ile) c.3797C>T (p.Thr1266Ile) | dbSNP gnomAD v4 |
| 8 | g.115414090G>C | CA372061899 | TRPS1 | c.3818C>G (p.Thr1273Arg) c.3779C>G (p.Thr1260Arg) c.3041C>G (p.Thr1014Arg) c.3791C>G (p.Thr1264Arg) c.3797C>G (p.Thr1266Arg) | |
| 8 | g.115414090G= | CA1812853600 | TRPS1 | c.3818C= (p.Thr1273=) c.3779C= (p.Thr1260=) c.3041C= (p.Thr1014=) c.3791C= (p.Thr1264=) c.3797C= (p.Thr1266=) | |
| 8 | g.115414090G>T | CA372061900 | TRPS1 | c.3818C>A (p.Thr1273Lys) c.3779C>A (p.Thr1260Lys) c.3041C>A (p.Thr1014Lys) c.3791C>A (p.Thr1264Lys) c.3797C>A (p.Thr1266Lys) | |
| 8 | g.115414091T>A | CA372061902 | TRPS1 | c.3817A>T (p.Thr1273Ser) c.3778A>T (p.Thr1260Ser) c.3040A>T (p.Thr1014Ser) c.3790A>T (p.Thr1264Ser) c.3796A>T (p.Thr1266Ser) | |
| 8 | g.115414091T>C | CA372061903 | TRPS1 | c.3817A>G (p.Thr1273Ala) c.3778A>G (p.Thr1260Ala) c.3040A>G (p.Thr1014Ala) c.3790A>G (p.Thr1264Ala) c.3796A>G (p.Thr1266Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414091T>G | CA372061904 | TRPS1 | c.3817A>C (p.Thr1273Pro) c.3778A>C (p.Thr1260Pro) c.3040A>C (p.Thr1014Pro) c.3790A>C (p.Thr1264Pro) c.3796A>C (p.Thr1266Pro) | |
| 8 | g.115414092T>A | CA462658064 | TRPS1 | c.3816A>T (p.Thr1272=) c.3777A>T (p.Thr1259=) c.3039A>T (p.Thr1013=) c.3789A>T (p.Thr1263=) c.3795A>T (p.Thr1265=) | |
| 8 | g.115414092T>C | CA462658066 | TRPS1 | c.3816A>G (p.Thr1272=) c.3777A>G (p.Thr1259=) c.3039A>G (p.Thr1013=) c.3789A>G (p.Thr1263=) c.3795A>G (p.Thr1265=) | dbSNP |
| 8 | g.115414092T>G | CA462658068 | TRPS1 | c.3816A>C (p.Thr1272=) c.3777A>C (p.Thr1259=) c.3039A>C (p.Thr1013=) c.3789A>C (p.Thr1263=) c.3795A>C (p.Thr1265=) | |
| 8 | g.115414092T= | CA1812853603 | TRPS1 | c.3816A= (p.Thr1272=) c.3777A= (p.Thr1259=) c.3039A= (p.Thr1013=) c.3789A= (p.Thr1263=) c.3795A= (p.Thr1265=) | |
| 8 | g.115414093G>A | CA372061905 | TRPS1 | c.3815C>T (p.Thr1272Ile) c.3776C>T (p.Thr1259Ile) c.3038C>T (p.Thr1013Ile) c.3788C>T (p.Thr1263Ile) c.3794C>T (p.Thr1265Ile) | |
| 8 | g.115414093G>C | CA372061906 | TRPS1 | c.3815C>G (p.Thr1272Arg) c.3776C>G (p.Thr1259Arg) c.3038C>G (p.Thr1013Arg) c.3788C>G (p.Thr1263Arg) c.3794C>G (p.Thr1265Arg) | |
| 8 | g.115414093G>T | CA372061907 | TRPS1 | c.3815C>A (p.Thr1272Lys) c.3776C>A (p.Thr1259Lys) c.3038C>A (p.Thr1013Lys) c.3788C>A (p.Thr1263Lys) c.3794C>A (p.Thr1265Lys) | |
| 8 | g.115414094T>A | CA372061908 | TRPS1 | c.3814A>T (p.Thr1272Ser) c.3775A>T (p.Thr1259Ser) c.3037A>T (p.Thr1013Ser) c.3787A>T (p.Thr1263Ser) c.3793A>T (p.Thr1265Ser) | |
| 8 | g.115414094T>C | CA372061909 | TRPS1 | c.3814A>G (p.Thr1272Ala) c.3775A>G (p.Thr1259Ala) c.3037A>G (p.Thr1013Ala) c.3787A>G (p.Thr1263Ala) c.3793A>G (p.Thr1265Ala) | dbSNP |
| 8 | g.115414094T>G | CA372061910 | TRPS1 | c.3814A>C (p.Thr1272Pro) c.3775A>C (p.Thr1259Pro) c.3037A>C (p.Thr1013Pro) c.3787A>C (p.Thr1263Pro) c.3793A>C (p.Thr1265Pro) | |
| 8 | g.115414094T= | CA1812853608 | TRPS1 | c.3814A= (p.Thr1272=) c.3775A= (p.Thr1259=) c.3037A= (p.Thr1013=) c.3787A= (p.Thr1263=) c.3793A= (p.Thr1265=) | |
| 8 | g.115414095G>A | CA462658075 | TRPS1 | c.3813C>T (p.Phe1271=) c.3774C>T (p.Phe1258=) c.3036C>T (p.Phe1012=) c.3786C>T (p.Phe1262=) c.3792C>T (p.Phe1264=) | gnomAD v4 |
| 8 | g.115414095G>C | CA372061912 | TRPS1 | c.3813C>G (p.Phe1271Leu) c.3774C>G (p.Phe1258Leu) c.3036C>G (p.Phe1012Leu) c.3786C>G (p.Phe1262Leu) c.3792C>G (p.Phe1264Leu) | |
| 8 | g.115414095G>T | CA372061911 | TRPS1 | c.3813C>A (p.Phe1271Leu) c.3774C>A (p.Phe1258Leu) c.3036C>A (p.Phe1012Leu) c.3786C>A (p.Phe1262Leu) c.3792C>A (p.Phe1264Leu) | |
| 8 | g.115414096A= | CA1812853610 | TRPS1 | c.3812T= (p.Phe1271=) c.3773T= (p.Phe1258=) c.3035T= (p.Phe1012=) c.3785T= (p.Phe1262=) c.3791T= (p.Phe1264=) | |
| 8 | g.115414096A>C | CA372061913 | TRPS1 | c.3812T>G (p.Phe1271Cys) c.3773T>G (p.Phe1258Cys) c.3035T>G (p.Phe1012Cys) c.3785T>G (p.Phe1262Cys) c.3791T>G (p.Phe1264Cys) | |
| 8 | g.115414096A>G | CA372061914 | TRPS1 | c.3812T>C (p.Phe1271Ser) c.3773T>C (p.Phe1258Ser) c.3035T>C (p.Phe1012Ser) c.3785T>C (p.Phe1262Ser) c.3791T>C (p.Phe1264Ser) | dbSNP |
| 8 | g.115414096A>T | CA372061915 | TRPS1 | c.3812T>A (p.Phe1271Tyr) c.3773T>A (p.Phe1258Tyr) c.3035T>A (p.Phe1012Tyr) c.3785T>A (p.Phe1262Tyr) c.3791T>A (p.Phe1264Tyr) | |
| 8 | g.115414097A>C | CA372061916 | TRPS1 | c.3811T>G (p.Phe1271Val) c.3772T>G (p.Phe1258Val) c.3034T>G (p.Phe1012Val) c.3784T>G (p.Phe1262Val) c.3790T>G (p.Phe1264Val) | |
| 8 | g.115414097A>G | CA372061917 | TRPS1 | c.3811T>C (p.Phe1271Leu) c.3772T>C (p.Phe1258Leu) c.3034T>C (p.Phe1012Leu) c.3784T>C (p.Phe1262Leu) c.3790T>C (p.Phe1264Leu) | |
| 8 | g.115414097A>T | CA372061918 | TRPS1 | c.3811T>A (p.Phe1271Ile) c.3772T>A (p.Phe1258Ile) c.3034T>A (p.Phe1012Ile) c.3784T>A (p.Phe1262Ile) c.3790T>A (p.Phe1264Ile) | |
| 8 | g.115414097_115414099delinsCACAACATG | CA2695210271 | TRPS1 | c.3809_3811delinsCATGTTGTG (p.Asp1270_Phe1271delinsAlaCysCysVal) c.3770_3772delinsCATGTTGTG (p.Asp1257_Phe1258delinsAlaCysCysVal) c.3032_3034delinsCATGTTGTG (p.Asp1011_Phe1012delinsAlaCysCysVal) c.3782_3784delinsCATGTTGTG (p.Asp1261_Phe1262delinsAlaCysCysVal) c.3788_3790delinsCATGTTGTG (p.Asp1263_Phe1264delinsAlaCysCysVal) | |
| 8 | g.115414098G>A | CA462658086 | TRPS1 | c.3810C>T (p.Asp1270=) c.3771C>T (p.Asp1257=) c.3033C>T (p.Asp1011=) c.3783C>T (p.Asp1261=) c.3789C>T (p.Asp1263=) | |
| 8 | g.115414098G>C | CA372061919 | TRPS1 | c.3810C>G (p.Asp1270Glu) c.3771C>G (p.Asp1257Glu) c.3033C>G (p.Asp1011Glu) c.3783C>G (p.Asp1261Glu) c.3789C>G (p.Asp1263Glu) | gnomAD v4 |
| 8 | g.115414098G>T | CA372061920 | TRPS1 | c.3810C>A (p.Asp1270Glu) c.3771C>A (p.Asp1257Glu) c.3033C>A (p.Asp1011Glu) c.3783C>A (p.Asp1261Glu) c.3789C>A (p.Asp1263Glu) | |
| 8 | g.115414099T>A | CA372061921 | TRPS1 | c.3809A>T (p.Asp1270Val) c.3770A>T (p.Asp1257Val) c.3032A>T (p.Asp1011Val) c.3782A>T (p.Asp1261Val) c.3788A>T (p.Asp1263Val) | |
| 8 | g.115414099T>C | CA372061922 | TRPS1 | c.3809A>G (p.Asp1270Gly) c.3770A>G (p.Asp1257Gly) c.3032A>G (p.Asp1011Gly) c.3782A>G (p.Asp1261Gly) c.3788A>G (p.Asp1263Gly) | dbSNP |
| 8 | g.115414099T>G | CA372061923 | TRPS1 | c.3809A>C (p.Asp1270Ala) c.3770A>C (p.Asp1257Ala) c.3032A>C (p.Asp1011Ala) c.3782A>C (p.Asp1261Ala) c.3788A>C (p.Asp1263Ala) | |
| 8 | g.115414099T= | CA1812853613 | TRPS1 | c.3809A= (p.Asp1270=) c.3770A= (p.Asp1257=) c.3032A= (p.Asp1011=) c.3782A= (p.Asp1261=) c.3788A= (p.Asp1263=) | |
| 8 | g.115414100C>A | CA372061925 | TRPS1 | c.3808G>T (p.Asp1270Tyr) c.3769G>T (p.Asp1257Tyr) c.3031G>T (p.Asp1011Tyr) c.3781G>T (p.Asp1261Tyr) c.3787G>T (p.Asp1263Tyr) | |
| 8 | g.115414100C>G | CA372061926 | TRPS1 | c.3808G>C (p.Asp1270His) c.3769G>C (p.Asp1257His) c.3031G>C (p.Asp1011His) c.3781G>C (p.Asp1261His) c.3787G>C (p.Asp1263His) | |
| 8 | g.115414100C>T | CA372061924 | TRPS1 | c.3808G>A (p.Asp1270Asn) c.3769G>A (p.Asp1257Asn) c.3031G>A (p.Asp1011Asn) c.3781G>A (p.Asp1261Asn) c.3787G>A (p.Asp1263Asn) | |
| 8 | g.115414101A= | CA1812853615 | TRPS1 | c.3807T= (p.Tyr1269=) c.3768T= (p.Tyr1256=) c.3030T= (p.Tyr1010=) c.3780T= (p.Tyr1260=) c.3786T= (p.Tyr1262=) | |
| 8 | g.115414101A>C | CA372061927 | TRPS1 | c.3807T>G (p.Tyr1269Ter) c.3768T>G (p.Tyr1256Ter) c.3030T>G (p.Tyr1010Ter) c.3780T>G (p.Tyr1260Ter) c.3786T>G (p.Tyr1262Ter) | |
| 8 | g.115414101A>G | CA462658097 | TRPS1 | c.3807T>C (p.Tyr1269=) c.3768T>C (p.Tyr1256=) c.3030T>C (p.Tyr1010=) c.3780T>C (p.Tyr1260=) c.3786T>C (p.Tyr1262=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414101A>T | CA372061928 | TRPS1 | c.3807T>A (p.Tyr1269Ter) c.3768T>A (p.Tyr1256Ter) c.3030T>A (p.Tyr1010Ter) c.3780T>A (p.Tyr1260Ter) c.3786T>A (p.Tyr1262Ter) | |
| 8 | g.115414102T>A | CA372061929 | TRPS1 | c.3806A>T (p.Tyr1269Phe) c.3767A>T (p.Tyr1256Phe) c.3029A>T (p.Tyr1010Phe) c.3779A>T (p.Tyr1260Phe) c.3785A>T (p.Tyr1262Phe) | |
| 8 | g.115414102T>C | CA372061930 | TRPS1 | c.3806A>G (p.Tyr1269Cys) c.3767A>G (p.Tyr1256Cys) c.3029A>G (p.Tyr1010Cys) c.3779A>G (p.Tyr1260Cys) c.3785A>G (p.Tyr1262Cys) | |
| 8 | g.115414102T>G | CA372061931 | TRPS1 | c.3806A>C (p.Tyr1269Ser) c.3767A>C (p.Tyr1256Ser) c.3029A>C (p.Tyr1010Ser) c.3779A>C (p.Tyr1260Ser) c.3785A>C (p.Tyr1262Ser) | |
| 8 | g.115414103A= | CA1812853619 | TRPS1 | c.3805T= (p.Tyr1269=) c.3766T= (p.Tyr1256=) c.3028T= (p.Tyr1010=) c.3778T= (p.Tyr1260=) c.3784T= (p.Tyr1262=) | |
| 8 | g.115414103A>C | CA372061934 | TRPS1 | c.3805T>G (p.Tyr1269Asp) c.3766T>G (p.Tyr1256Asp) c.3028T>G (p.Tyr1010Asp) c.3778T>G (p.Tyr1260Asp) c.3784T>G (p.Tyr1262Asp) | |
| 8 | g.115414103A>G | CA372061932 | TRPS1 | c.3805T>C (p.Tyr1269His) c.3766T>C (p.Tyr1256His) c.3028T>C (p.Tyr1010His) c.3778T>C (p.Tyr1260His) c.3784T>C (p.Tyr1262His) | dbSNP gnomAD v4 |
| 8 | g.115414103A>T | CA372061933 | TRPS1 | c.3805T>A (p.Tyr1269Asn) c.3766T>A (p.Tyr1256Asn) c.3028T>A (p.Tyr1010Asn) c.3778T>A (p.Tyr1260Asn) c.3784T>A (p.Tyr1262Asn) | |
| 8 | g.115414104T>A | CA372061935 | TRPS1 | c.3804A>T (p.Lys1268Asn) c.3765A>T (p.Lys1255Asn) c.3027A>T (p.Lys1009Asn) c.3777A>T (p.Lys1259Asn) c.3783A>T (p.Lys1261Asn) | |
| 8 | g.115414104T>C | CA462658103 | TRPS1 | c.3804A>G (p.Lys1268=) c.3765A>G (p.Lys1255=) c.3027A>G (p.Lys1009=) c.3777A>G (p.Lys1259=) c.3783A>G (p.Lys1261=) | |
| 8 | g.115414104T>G | CA372061936 | TRPS1 | c.3804A>C (p.Lys1268Asn) c.3765A>C (p.Lys1255Asn) c.3027A>C (p.Lys1009Asn) c.3777A>C (p.Lys1259Asn) c.3783A>C (p.Lys1261Asn) | |
| 8 | g.115414105T>A | CA372061937 | TRPS1 | c.3803A>T (p.Lys1268Ile) c.3764A>T (p.Lys1255Ile) c.3026A>T (p.Lys1009Ile) c.3776A>T (p.Lys1259Ile) c.3782A>T (p.Lys1261Ile) | |
| 8 | g.115414105T>C | CA372061938 | TRPS1 | c.3803A>G (p.Lys1268Arg) c.3764A>G (p.Lys1255Arg) c.3026A>G (p.Lys1009Arg) c.3776A>G (p.Lys1259Arg) c.3782A>G (p.Lys1261Arg) | |
| 8 | g.115414105T>G | CA372061939 | TRPS1 | c.3803A>C (p.Lys1268Thr) c.3764A>C (p.Lys1255Thr) c.3026A>C (p.Lys1009Thr) c.3776A>C (p.Lys1259Thr) c.3782A>C (p.Lys1261Thr) | dbSNP |
| 8 | g.115414105T= | CA1812853622 | TRPS1 | c.3803A= (p.Lys1268=) c.3764A= (p.Lys1255=) c.3026A= (p.Lys1009=) c.3776A= (p.Lys1259=) c.3782A= (p.Lys1261=) | |
| 8 | g.115414106T>A | CA372061940 | TRPS1 | c.3802A>T (p.Lys1268Ter) c.3763A>T (p.Lys1255Ter) c.3025A>T (p.Lys1009Ter) c.3775A>T (p.Lys1259Ter) c.3781A>T (p.Lys1261Ter) | |
| 8 | g.115414106T>C | CA372061942 | TRPS1 | c.3802A>G (p.Lys1268Glu) c.3763A>G (p.Lys1255Glu) c.3025A>G (p.Lys1009Glu) c.3775A>G (p.Lys1259Glu) c.3781A>G (p.Lys1261Glu) | gnomAD v4 |
| 8 | g.115414106T>G | CA372061941 | TRPS1 | c.3802A>C (p.Lys1268Gln) c.3763A>C (p.Lys1255Gln) c.3025A>C (p.Lys1009Gln) c.3775A>C (p.Lys1259Gln) c.3781A>C (p.Lys1261Gln) | |
| 8 | g.115414107G>A | CA462658110 | TRPS1 | c.3801C>T (p.Asp1267=) c.3762C>T (p.Asp1254=) c.3024C>T (p.Asp1008=) c.3774C>T (p.Asp1258=) c.3780C>T (p.Asp1260=) | |
| 8 | g.115414107G>C | CA372061943 | TRPS1 | c.3801C>G (p.Asp1267Glu) c.3762C>G (p.Asp1254Glu) c.3024C>G (p.Asp1008Glu) c.3774C>G (p.Asp1258Glu) c.3780C>G (p.Asp1260Glu) | |
| 8 | g.115414107G= | CA1812853625 | TRPS1 | c.3801C= (p.Asp1267=) c.3762C= (p.Asp1254=) c.3024C= (p.Asp1008=) c.3774C= (p.Asp1258=) c.3780C= (p.Asp1260=) | |
| 8 | g.115414107G>T | CA4851443 | TRPS1 | c.3801C>A (p.Asp1267Glu) c.3762C>A (p.Asp1254Glu) c.3024C>A (p.Asp1008Glu) c.3774C>A (p.Asp1258Glu) c.3780C>A (p.Asp1260Glu) | dbSNP ExAC gnomAD v2 |
| 8 | g.115414108T>A | CA372061944 | TRPS1 | c.3800A>T (p.Asp1267Val) c.3761A>T (p.Asp1254Val) c.3023A>T (p.Asp1008Val) c.3773A>T (p.Asp1258Val) c.3779A>T (p.Asp1260Val) | |
| 8 | g.115414108T>C | CA372061945 | TRPS1 | c.3800A>G (p.Asp1267Gly) c.3761A>G (p.Asp1254Gly) c.3023A>G (p.Asp1008Gly) c.3773A>G (p.Asp1258Gly) c.3779A>G (p.Asp1260Gly) | COSMIC COSMIC |
| 8 | g.115414108T>G | CA372061946 | TRPS1 | c.3800A>C (p.Asp1267Ala) c.3761A>C (p.Asp1254Ala) c.3023A>C (p.Asp1008Ala) c.3773A>C (p.Asp1258Ala) c.3779A>C (p.Asp1260Ala) | |
| 8 | g.115414109C>A | CA372061947 | TRPS1 | c.3799G>T (p.Asp1267Tyr) c.3760G>T (p.Asp1254Tyr) c.3022G>T (p.Asp1008Tyr) c.3772G>T (p.Asp1258Tyr) c.3778G>T (p.Asp1260Tyr) | |
| 8 | g.115414109C>G | CA372061948 | TRPS1 | c.3799G>C (p.Asp1267His) c.3760G>C (p.Asp1254His) c.3022G>C (p.Asp1008His) c.3772G>C (p.Asp1258His) c.3778G>C (p.Asp1260His) | |
| 8 | g.115414109C>T | CA372061949 | TRPS1 | c.3799G>A (p.Asp1267Asn) c.3760G>A (p.Asp1254Asn) c.3022G>A (p.Asp1008Asn) c.3772G>A (p.Asp1258Asn) c.3778G>A (p.Asp1260Asn) | |
| 8 | g.115414110C>A | CA462658111 | TRPS1 | c.3798G>T (p.Thr1266=) c.3759G>T (p.Thr1253=) c.3021G>T (p.Thr1007=) c.3771G>T (p.Thr1257=) c.3777G>T (p.Thr1259=) | |
| 8 | g.115414110C= | CA1812853628 | TRPS1 | c.3798G= (p.Thr1266=) c.3759G= (p.Thr1253=) c.3021G= (p.Thr1007=) c.3771G= (p.Thr1257=) c.3777G= (p.Thr1259=) | |
| 8 | g.115414110C>G | CA462658112 | TRPS1 | c.3798G>C (p.Thr1266=) c.3759G>C (p.Thr1253=) c.3021G>C (p.Thr1007=) c.3771G>C (p.Thr1257=) c.3777G>C (p.Thr1259=) | |
| 8 | g.115414110C>T | CA4851444 | TRPS1 | c.3798G>A (p.Thr1266=) c.3759G>A (p.Thr1253=) c.3021G>A (p.Thr1007=) c.3771G>A (p.Thr1257=) c.3777G>A (p.Thr1259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414111G>A | CA4851445 | TRPS1 | c.3797C>T (p.Thr1266Met) c.3758C>T (p.Thr1253Met) c.3020C>T (p.Thr1007Met) c.3770C>T (p.Thr1257Met) c.3776C>T (p.Thr1259Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414111G>C | CA372061950 | TRPS1 | c.3797C>G (p.Thr1266Arg) c.3758C>G (p.Thr1253Arg) c.3020C>G (p.Thr1007Arg) c.3770C>G (p.Thr1257Arg) c.3776C>G (p.Thr1259Arg) | |
| 8 | g.115414111G= | CA1812853631 | TRPS1 | c.3797C= (p.Thr1266=) c.3758C= (p.Thr1253=) c.3020C= (p.Thr1007=) c.3770C= (p.Thr1257=) c.3776C= (p.Thr1259=) | |
| 8 | g.115414111G>T | CA372061951 | TRPS1 | c.3797C>A (p.Thr1266Lys) c.3758C>A (p.Thr1253Lys) c.3020C>A (p.Thr1007Lys) c.3770C>A (p.Thr1257Lys) c.3776C>A (p.Thr1259Lys) | |
| 8 | g.115414112T>A | CA372061953 | TRPS1 | c.3796A>T (p.Thr1266Ser) c.3757A>T (p.Thr1253Ser) c.3019A>T (p.Thr1007Ser) c.3769A>T (p.Thr1257Ser) c.3775A>T (p.Thr1259Ser) | |
| 8 | g.115414112T>C | CA372061954 | TRPS1 | c.3796A>G (p.Thr1266Ala) c.3757A>G (p.Thr1253Ala) c.3019A>G (p.Thr1007Ala) c.3769A>G (p.Thr1257Ala) c.3775A>G (p.Thr1259Ala) | gnomAD v4 |
| 8 | g.115414112T>G | CA372061952 | TRPS1 | c.3796A>C (p.Thr1266Pro) c.3757A>C (p.Thr1253Pro) c.3019A>C (p.Thr1007Pro) c.3769A>C (p.Thr1257Pro) c.3775A>C (p.Thr1259Pro) | |
| 8 | g.115414113G>A | CA4851446 | TRPS1 | c.3795C>T (p.Cys1265=) c.3756C>T (p.Cys1252=) c.3018C>T (p.Cys1006=) c.3768C>T (p.Cys1256=) c.3774C>T (p.Cys1258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414113G>C | CA372061955 | TRPS1 | c.3795C>G (p.Cys1265Trp) c.3756C>G (p.Cys1252Trp) c.3018C>G (p.Cys1006Trp) c.3768C>G (p.Cys1256Trp) c.3774C>G (p.Cys1258Trp) | |
| 8 | g.115414113G= | CA1812853637 | TRPS1 | c.3795C= (p.Cys1265=) c.3756C= (p.Cys1252=) c.3018C= (p.Cys1006=) c.3768C= (p.Cys1256=) c.3774C= (p.Cys1258=) | |
| 8 | g.115414113G>T | CA372061956 | TRPS1 | c.3795C>A (p.Cys1265Ter) c.3756C>A (p.Cys1252Ter) c.3018C>A (p.Cys1006Ter) c.3768C>A (p.Cys1256Ter) c.3774C>A (p.Cys1258Ter) | COSMIC |
| 8 | g.115414114C>A | CA372061957 | TRPS1 | c.3794G>T (p.Cys1265Phe) c.3755G>T (p.Cys1252Phe) c.3017G>T (p.Cys1006Phe) c.3767G>T (p.Cys1256Phe) c.3773G>T (p.Cys1258Phe) | |
| 8 | g.115414114C= | CA1812853640 | TRPS1 | c.3794G= (p.Cys1265=) c.3755G= (p.Cys1252=) c.3017G= (p.Cys1006=) c.3767G= (p.Cys1256=) c.3773G= (p.Cys1258=) | |
| 8 | g.115414114C>G | CA372061958 | TRPS1 | c.3794G>C (p.Cys1265Ser) c.3755G>C (p.Cys1252Ser) c.3017G>C (p.Cys1006Ser) c.3767G>C (p.Cys1256Ser) c.3773G>C (p.Cys1258Ser) | |
| 8 | g.115414114C>T | CA372061959 | TRPS1 | c.3794G>A (p.Cys1265Tyr) c.3755G>A (p.Cys1252Tyr) c.3017G>A (p.Cys1006Tyr) c.3767G>A (p.Cys1256Tyr) c.3773G>A (p.Cys1258Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414115A>C | CA372061960 | TRPS1 | c.3793T>G (p.Cys1265Gly) c.3754T>G (p.Cys1252Gly) c.3016T>G (p.Cys1006Gly) c.3766T>G (p.Cys1256Gly) c.3772T>G (p.Cys1258Gly) | |
| 8 | g.115414115A>G | CA372061961 | TRPS1 | c.3793T>C (p.Cys1265Arg) c.3754T>C (p.Cys1252Arg) c.3016T>C (p.Cys1006Arg) c.3766T>C (p.Cys1256Arg) c.3772T>C (p.Cys1258Arg) | |
| 8 | g.115414115A>T | CA372061962 | TRPS1 | c.3793T>A (p.Cys1265Ser) c.3754T>A (p.Cys1252Ser) c.3016T>A (p.Cys1006Ser) c.3766T>A (p.Cys1256Ser) c.3772T>A (p.Cys1258Ser) | |
| 8 | g.115414116A>C | CA462658113 | TRPS1 | c.3792T>G (p.Leu1264=) c.3753T>G (p.Leu1251=) c.3015T>G (p.Leu1005=) c.3765T>G (p.Leu1255=) c.3771T>G (p.Leu1257=) | |
| 8 | g.115414116A>G | CA462658114 | TRPS1 | c.3792T>C (p.Leu1264=) c.3753T>C (p.Leu1251=) c.3015T>C (p.Leu1005=) c.3765T>C (p.Leu1255=) c.3771T>C (p.Leu1257=) | |
| 8 | g.115414116A>T | CA462658115 | TRPS1 | c.3792T>A (p.Leu1264=) c.3753T>A (p.Leu1251=) c.3015T>A (p.Leu1005=) c.3765T>A (p.Leu1255=) c.3771T>A (p.Leu1257=) | |
| 8 | g.115414117A>C | CA372061963 | TRPS1 | c.3791T>G (p.Leu1264Arg) c.3752T>G (p.Leu1251Arg) c.3014T>G (p.Leu1005Arg) c.3764T>G (p.Leu1255Arg) c.3770T>G (p.Leu1257Arg) | |
| 8 | g.115414117A>G | CA372061964 | TRPS1 | c.3791T>C (p.Leu1264Pro) c.3752T>C (p.Leu1251Pro) c.3014T>C (p.Leu1005Pro) c.3764T>C (p.Leu1255Pro) c.3770T>C (p.Leu1257Pro) | |
| 8 | g.115414117A>T | CA372061965 | TRPS1 | c.3791T>A (p.Leu1264His) c.3752T>A (p.Leu1251His) c.3014T>A (p.Leu1005His) c.3764T>A (p.Leu1255His) c.3770T>A (p.Leu1257His) | |
| 8 | g.115414118G>A | CA372061966 | TRPS1 | c.3790C>T (p.Leu1264Phe) c.3751C>T (p.Leu1251Phe) c.3013C>T (p.Leu1005Phe) c.3763C>T (p.Leu1255Phe) c.3769C>T (p.Leu1257Phe) | |
| 8 | g.115414118G>C | CA372061967 | TRPS1 | c.3790C>G (p.Leu1264Val) c.3751C>G (p.Leu1251Val) c.3013C>G (p.Leu1005Val) c.3763C>G (p.Leu1255Val) c.3769C>G (p.Leu1257Val) | |
| 8 | g.115414118G>T | CA372061968 | TRPS1 | c.3790C>A (p.Leu1264Ile) c.3751C>A (p.Leu1251Ile) c.3013C>A (p.Leu1005Ile) c.3763C>A (p.Leu1255Ile) c.3769C>A (p.Leu1257Ile) | |
| 8 | g.115414119A= | CA1812853642 | TRPS1 | c.3789T= (p.His1263=) c.3750T= (p.His1250=) c.3012T= (p.His1004=) c.3762T= (p.His1254=) c.3768T= (p.His1256=) | |
| 8 | g.115414119A>C | CA372061969 | TRPS1 | c.3789T>G (p.His1263Gln) c.3750T>G (p.His1250Gln) c.3012T>G (p.His1004Gln) c.3762T>G (p.His1254Gln) c.3768T>G (p.His1256Gln) | |
| 8 | g.115414119A>G | CA462658116 | TRPS1 | c.3789T>C (p.His1263=) c.3750T>C (p.His1250=) c.3012T>C (p.His1004=) c.3762T>C (p.His1254=) c.3768T>C (p.His1256=) | |
| 8 | g.115414119A>T | CA4851447 | TRPS1 | c.3789T>A (p.His1263Gln) c.3750T>A (p.His1250Gln) c.3012T>A (p.His1004Gln) c.3762T>A (p.His1254Gln) c.3768T>A (p.His1256Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414120T>A | CA372061970 | TRPS1 | c.3788A>T (p.His1263Leu) c.3749A>T (p.His1250Leu) c.3011A>T (p.His1004Leu) c.3761A>T (p.His1254Leu) c.3767A>T (p.His1256Leu) | |
| 8 | g.115414120T>C | CA372061971 | TRPS1 | c.3788A>G (p.His1263Arg) c.3749A>G (p.His1250Arg) c.3011A>G (p.His1004Arg) c.3761A>G (p.His1254Arg) c.3767A>G (p.His1256Arg) | |
| 8 | g.115414120T>G | CA372061972 | TRPS1 | c.3788A>C (p.His1263Pro) c.3749A>C (p.His1250Pro) c.3011A>C (p.His1004Pro) c.3761A>C (p.His1254Pro) c.3767A>C (p.His1256Pro) | |
| 8 | g.115414121G>A | CA372061973 | TRPS1 | c.3787C>T (p.His1263Tyr) c.3748C>T (p.His1250Tyr) c.3010C>T (p.His1004Tyr) c.3760C>T (p.His1254Tyr) c.3766C>T (p.His1256Tyr) | |
| 8 | g.115414121G>C | CA372061974 | TRPS1 | c.3787C>G (p.His1263Asp) c.3748C>G (p.His1250Asp) c.3010C>G (p.His1004Asp) c.3760C>G (p.His1254Asp) c.3766C>G (p.His1256Asp) | |
| 8 | g.115414121G>T | CA372061975 | TRPS1 | c.3787C>A (p.His1263Asn) c.3748C>A (p.His1250Asn) c.3010C>A (p.His1004Asn) c.3760C>A (p.His1254Asn) c.3766C>A (p.His1256Asn) | COSMIC COSMIC |
| 8 | g.115414122C>A | CA372061976 | TRPS1 | c.3786G>T (p.Gln1262His) c.3747G>T (p.Gln1249His) c.3009G>T (p.Gln1003His) c.3759G>T (p.Gln1253His) c.3765G>T (p.Gln1255His) | |
| 8 | g.115414122C= | CA1812853652 | TRPS1 | c.3786G= (p.Gln1262=) c.3747G= (p.Gln1249=) c.3009G= (p.Gln1003=) c.3759G= (p.Gln1253=) c.3765G= (p.Gln1255=) | |
| 8 | g.115414122C>G | CA372061977 | TRPS1 | c.3786G>C (p.Gln1262His) c.3747G>C (p.Gln1249His) c.3009G>C (p.Gln1003His) c.3759G>C (p.Gln1253His) c.3765G>C (p.Gln1255His) | |
| 8 | g.115414122C>T | CA4851448 | TRPS1 | c.3786G>A (p.Gln1262=) c.3747G>A (p.Gln1249=) c.3009G>A (p.Gln1003=) c.3759G>A (p.Gln1253=) c.3765G>A (p.Gln1255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414123T>A | CA372061978 | TRPS1 | c.3785A>T (p.Gln1262Leu) c.3746A>T (p.Gln1249Leu) c.3008A>T (p.Gln1003Leu) c.3758A>T (p.Gln1253Leu) c.3764A>T (p.Gln1255Leu) | |
| 8 | g.115414123T>C | CA372061979 | TRPS1 | c.3785A>G (p.Gln1262Arg) c.3746A>G (p.Gln1249Arg) c.3008A>G (p.Gln1003Arg) c.3758A>G (p.Gln1253Arg) c.3764A>G (p.Gln1255Arg) | |
| 8 | g.115414123T>G | CA372061980 | TRPS1 | c.3785A>C (p.Gln1262Pro) c.3746A>C (p.Gln1249Pro) c.3008A>C (p.Gln1003Pro) c.3758A>C (p.Gln1253Pro) c.3764A>C (p.Gln1255Pro) | |
| 8 | g.115414124G>A | CA16618582 | TRPS1 | c.3784C>T (p.Gln1262Ter) c.3745C>T (p.Gln1249Ter) c.3007C>T (p.Gln1003Ter) c.3757C>T (p.Gln1253Ter) c.3763C>T (p.Gln1255Ter) | ClinVar dbSNP |
| 8 | g.115414124G>C | CA372061982 | TRPS1 | c.3784C>G (p.Gln1262Glu) c.3745C>G (p.Gln1249Glu) c.3007C>G (p.Gln1003Glu) c.3757C>G (p.Gln1253Glu) c.3763C>G (p.Gln1255Glu) | |
| 8 | g.115414124G= | CA1812853656 | TRPS1 | c.3784C= (p.Gln1262=) c.3745C= (p.Gln1249=) c.3007C= (p.Gln1003=) c.3757C= (p.Gln1253=) c.3763C= (p.Gln1255=) | |
| 8 | g.115414124G>T | CA372061981 | TRPS1 | c.3784C>A (p.Gln1262Lys) c.3745C>A (p.Gln1249Lys) c.3007C>A (p.Gln1003Lys) c.3757C>A (p.Gln1253Lys) c.3763C>A (p.Gln1255Lys) | |
| 8 | g.115414125G>A | CA462658117 | TRPS1 | c.3783C>T (p.Cys1261=) c.3744C>T (p.Cys1248=) c.3006C>T (p.Cys1002=) c.3756C>T (p.Cys1252=) c.3762C>T (p.Cys1254=) | |
| 8 | g.115414125G>C | CA372061983 | TRPS1 | c.3783C>G (p.Cys1261Trp) c.3744C>G (p.Cys1248Trp) c.3006C>G (p.Cys1002Trp) c.3756C>G (p.Cys1252Trp) c.3762C>G (p.Cys1254Trp) | |
| 8 | g.115414125G>T | CA372061984 | TRPS1 | c.3783C>A (p.Cys1261Ter) c.3744C>A (p.Cys1248Ter) c.3006C>A (p.Cys1002Ter) c.3756C>A (p.Cys1252Ter) c.3762C>A (p.Cys1254Ter) | COSMIC COSMIC |
| 8 | g.115414126C>A | CA372061985 | TRPS1 | c.3782G>T (p.Cys1261Phe) c.3743G>T (p.Cys1248Phe) c.3005G>T (p.Cys1002Phe) c.3755G>T (p.Cys1252Phe) c.3761G>T (p.Cys1254Phe) | |
| 8 | g.115414126C>G | CA372061986 | TRPS1 | c.3782G>C (p.Cys1261Ser) c.3743G>C (p.Cys1248Ser) c.3005G>C (p.Cys1002Ser) c.3755G>C (p.Cys1252Ser) c.3761G>C (p.Cys1254Ser) | |
| 8 | g.115414126C>T | CA372061987 | TRPS1 | c.3782G>A (p.Cys1261Tyr) c.3743G>A (p.Cys1248Tyr) c.3005G>A (p.Cys1002Tyr) c.3755G>A (p.Cys1252Tyr) c.3761G>A (p.Cys1254Tyr) | |
| 8 | g.115414127A>C | CA372061988 | TRPS1 | c.3781T>G (p.Cys1261Gly) c.3742T>G (p.Cys1248Gly) c.3004T>G (p.Cys1002Gly) c.3754T>G (p.Cys1252Gly) c.3760T>G (p.Cys1254Gly) | |
| 8 | g.115414127A>G | CA372061989 | TRPS1 | c.3781T>C (p.Cys1261Arg) c.3742T>C (p.Cys1248Arg) c.3004T>C (p.Cys1002Arg) c.3754T>C (p.Cys1252Arg) c.3760T>C (p.Cys1254Arg) | |
| 8 | g.115414127A>T | CA372061990 | TRPS1 | c.3781T>A (p.Cys1261Ser) c.3742T>A (p.Cys1248Ser) c.3004T>A (p.Cys1002Ser) c.3754T>A (p.Cys1252Ser) c.3760T>A (p.Cys1254Ser) | |
| 8 | g.115414128T>A | CA462658118 | TRPS1 | c.3780A>T (p.Ile1260=) c.3741A>T (p.Ile1247=) c.3003A>T (p.Ile1001=) c.3753A>T (p.Ile1251=) c.3759A>T (p.Ile1253=) | |
| 8 | g.115414128T>C | CA372061991 | TRPS1 | c.3780A>G (p.Ile1260Met) c.3741A>G (p.Ile1247Met) c.3003A>G (p.Ile1001Met) c.3753A>G (p.Ile1251Met) c.3759A>G (p.Ile1253Met) | gnomAD v4 |
| 8 | g.115414128T>G | CA462658119 | TRPS1 | c.3780A>C (p.Ile1260=) c.3741A>C (p.Ile1247=) c.3003A>C (p.Ile1001=) c.3753A>C (p.Ile1251=) c.3759A>C (p.Ile1253=) | |
| 8 | g.115414129A= | CA1812853660 | TRPS1 | c.3779T= (p.Ile1260=) c.3740T= (p.Ile1247=) c.3002T= (p.Ile1001=) c.3752T= (p.Ile1251=) c.3758T= (p.Ile1253=) | |
| 8 | g.115414129A>C | CA372061992 | TRPS1 | c.3779T>G (p.Ile1260Arg) c.3740T>G (p.Ile1247Arg) c.3002T>G (p.Ile1001Arg) c.3752T>G (p.Ile1251Arg) c.3758T>G (p.Ile1253Arg) | |
| 8 | g.115414129A>G | CA372061993 | TRPS1 | c.3779T>C (p.Ile1260Thr) c.3740T>C (p.Ile1247Thr) c.3002T>C (p.Ile1001Thr) c.3752T>C (p.Ile1251Thr) c.3758T>C (p.Ile1253Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414129A>T | CA372061994 | TRPS1 | c.3779T>A (p.Ile1260Lys) c.3740T>A (p.Ile1247Lys) c.3002T>A (p.Ile1001Lys) c.3752T>A (p.Ile1251Lys) c.3758T>A (p.Ile1253Lys) | |
| 8 | g.115414130T>A | CA372061996 | TRPS1 | c.3778A>T (p.Ile1260Leu) c.3739A>T (p.Ile1247Leu) c.3001A>T (p.Ile1001Leu) c.3751A>T (p.Ile1251Leu) c.3757A>T (p.Ile1253Leu) | |
| 8 | g.115414130T>C | CA372061997 | TRPS1 | c.3778A>G (p.Ile1260Val) c.3739A>G (p.Ile1247Val) c.3001A>G (p.Ile1001Val) c.3751A>G (p.Ile1251Val) c.3757A>G (p.Ile1253Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414130T>G | CA372061995 | TRPS1 | c.3778A>C (p.Ile1260Leu) c.3739A>C (p.Ile1247Leu) c.3001A>C (p.Ile1001Leu) c.3751A>C (p.Ile1251Leu) c.3757A>C (p.Ile1253Leu) | dbSNP |
| 8 | g.115414130T= | CA1812853662 | TRPS1 | c.3778A= (p.Ile1260=) c.3739A= (p.Ile1247=) c.3001A= (p.Ile1001=) c.3751A= (p.Ile1251=) c.3757A= (p.Ile1253=) | |
| 8 | g.115414131G>A | CA462658120 | TRPS1 | c.3777C>T (p.Ser1259=) c.3738C>T (p.Ser1246=) c.3000C>T (p.Ser1000=) c.3750C>T (p.Ser1250=) c.3756C>T (p.Ser1252=) | |
| 8 | g.115414131G>C | CA372061998 | TRPS1 | c.3777C>G (p.Ser1259Arg) c.3738C>G (p.Ser1246Arg) c.3000C>G (p.Ser1000Arg) c.3750C>G (p.Ser1250Arg) c.3756C>G (p.Ser1252Arg) | |
| 8 | g.115414131G>T | CA372061999 | TRPS1 | c.3777C>A (p.Ser1259Arg) c.3738C>A (p.Ser1246Arg) c.3000C>A (p.Ser1000Arg) c.3750C>A (p.Ser1250Arg) c.3756C>A (p.Ser1252Arg) | |
| 8 | g.115414132C>A | CA372062000 | TRPS1 | c.3776G>T (p.Ser1259Ile) c.3737G>T (p.Ser1246Ile) c.2999G>T (p.Ser1000Ile) c.3749G>T (p.Ser1250Ile) c.3755G>T (p.Ser1252Ile) | gnomAD v4 |
| 8 | g.115414132C>G | CA372062001 | TRPS1 | c.3776G>C (p.Ser1259Thr) c.3737G>C (p.Ser1246Thr) c.2999G>C (p.Ser1000Thr) c.3749G>C (p.Ser1250Thr) c.3755G>C (p.Ser1252Thr) | |
| 8 | g.115414132C>T | CA372062002 | TRPS1 | c.3776G>A (p.Ser1259Asn) c.3737G>A (p.Ser1246Asn) c.2999G>A (p.Ser1000Asn) c.3749G>A (p.Ser1250Asn) c.3755G>A (p.Ser1252Asn) | gnomAD v4 |
| 8 | g.115414133T>A | CA372062005 | TRPS1 | c.3775A>T (p.Ser1259Cys) c.3736A>T (p.Ser1246Cys) c.2998A>T (p.Ser1000Cys) c.3748A>T (p.Ser1250Cys) c.3754A>T (p.Ser1252Cys) | |
| 8 | g.115414133T>C | CA372062003 | TRPS1 | c.3775A>G (p.Ser1259Gly) c.3736A>G (p.Ser1246Gly) c.2998A>G (p.Ser1000Gly) c.3748A>G (p.Ser1250Gly) c.3754A>G (p.Ser1252Gly) | |
| 8 | g.115414133T>G | CA372062004 | TRPS1 | c.3775A>C (p.Ser1259Arg) c.3736A>C (p.Ser1246Arg) c.2998A>C (p.Ser1000Arg) c.3748A>C (p.Ser1250Arg) c.3754A>C (p.Ser1252Arg) | |
| 8 | g.115414134G>A | CA462658121 | TRPS1 | c.3774C>T (p.Cys1258=) c.3735C>T (p.Cys1245=) c.2997C>T (p.Cys999=) c.3747C>T (p.Cys1249=) c.3753C>T (p.Cys1251=) | |
| 8 | g.115414134G>C | CA372062006 | TRPS1 | c.3774C>G (p.Cys1258Trp) c.3735C>G (p.Cys1245Trp) c.2997C>G (p.Cys999Trp) c.3747C>G (p.Cys1249Trp) c.3753C>G (p.Cys1251Trp) | |
| 8 | g.115414134G>T | CA372062007 | TRPS1 | c.3774C>A (p.Cys1258Ter) c.3735C>A (p.Cys1245Ter) c.2997C>A (p.Cys999Ter) c.3747C>A (p.Cys1249Ter) c.3753C>A (p.Cys1251Ter) | |
| 8 | g.115414135C>A | CA372062008 | TRPS1 | c.3773G>T (p.Cys1258Phe) c.3734G>T (p.Cys1245Phe) c.2996G>T (p.Cys999Phe) c.3746G>T (p.Cys1249Phe) c.3752G>T (p.Cys1251Phe) | |
| 8 | g.115414135C>G | CA372062009 | TRPS1 | c.3773G>C (p.Cys1258Ser) c.3734G>C (p.Cys1245Ser) c.2996G>C (p.Cys999Ser) c.3746G>C (p.Cys1249Ser) c.3752G>C (p.Cys1251Ser) | |
| 8 | g.115414135C>T | CA372062010 | TRPS1 | c.3773G>A (p.Cys1258Tyr) c.3734G>A (p.Cys1245Tyr) c.2996G>A (p.Cys999Tyr) c.3746G>A (p.Cys1249Tyr) c.3752G>A (p.Cys1251Tyr) | |
| 8 | g.115414136A= | CA1812853665 | TRPS1 | c.3772T= (p.Cys1258=) c.3733T= (p.Cys1245=) c.2995T= (p.Cys999=) c.3745T= (p.Cys1249=) c.3751T= (p.Cys1251=) | |
| 8 | g.115414136A>C | CA372062013 | TRPS1 | c.3772T>G (p.Cys1258Gly) c.3733T>G (p.Cys1245Gly) c.2995T>G (p.Cys999Gly) c.3745T>G (p.Cys1249Gly) c.3751T>G (p.Cys1251Gly) | |
| 8 | g.115414136A>G | CA372062011 | TRPS1 | c.3772T>C (p.Cys1258Arg) c.3733T>C (p.Cys1245Arg) c.2995T>C (p.Cys999Arg) c.3745T>C (p.Cys1249Arg) c.3751T>C (p.Cys1251Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414136A>T | CA372062012 | TRPS1 | c.3772T>A (p.Cys1258Ser) c.3733T>A (p.Cys1245Ser) c.2995T>A (p.Cys999Ser) c.3745T>A (p.Cys1249Ser) c.3751T>A (p.Cys1251Ser) | |
| 8 | g.115414137C>A | CA372062014 | TRPS1 | c.3771G>T (p.Gln1257His) c.3732G>T (p.Gln1244His) c.2994G>T (p.Gln998His) c.3744G>T (p.Gln1248His) c.3750G>T (p.Gln1250His) | gnomAD v4 |
| 8 | g.115414137C>G | CA372062015 | TRPS1 | c.3771G>C (p.Gln1257His) c.3732G>C (p.Gln1244His) c.2994G>C (p.Gln998His) c.3744G>C (p.Gln1248His) c.3750G>C (p.Gln1250His) | |
| 8 | g.115414137C>T | CA462658122 | TRPS1 | c.3771G>A (p.Gln1257=) c.3732G>A (p.Gln1244=) c.2994G>A (p.Gln998=) c.3744G>A (p.Gln1248=) c.3750G>A (p.Gln1250=) | |
| 8 | g.115414138T>A | CA372062016 | TRPS1 | c.3770A>T (p.Gln1257Leu) c.3731A>T (p.Gln1244Leu) c.2993A>T (p.Gln998Leu) c.3743A>T (p.Gln1248Leu) c.3749A>T (p.Gln1250Leu) | |
| 8 | g.115414138T>C | CA4851449 | TRPS1 | c.3770A>G (p.Gln1257Arg) c.3731A>G (p.Gln1244Arg) c.2993A>G (p.Gln998Arg) c.3743A>G (p.Gln1248Arg) c.3749A>G (p.Gln1250Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414138T>G | CA372062017 | TRPS1 | c.3770A>C (p.Gln1257Pro) c.3731A>C (p.Gln1244Pro) c.2993A>C (p.Gln998Pro) c.3743A>C (p.Gln1248Pro) c.3749A>C (p.Gln1250Pro) | |
| 8 | g.115414138T= | CA1812853667 | TRPS1 | c.3770A= (p.Gln1257=) c.3731A= (p.Gln1244=) c.2993A= (p.Gln998=) c.3743A= (p.Gln1248=) c.3749A= (p.Gln1250=) | |
| 8 | g.115414139G>A | CA372062018 | TRPS1 | c.3769C>T (p.Gln1257Ter) c.3730C>T (p.Gln1244Ter) c.2992C>T (p.Gln998Ter) c.3742C>T (p.Gln1248Ter) c.3748C>T (p.Gln1250Ter) | |
| 8 | g.115414139G>C | CA372062019 | TRPS1 | c.3769C>G (p.Gln1257Glu) c.3730C>G (p.Gln1244Glu) c.2992C>G (p.Gln998Glu) c.3742C>G (p.Gln1248Glu) c.3748C>G (p.Gln1250Glu) | gnomAD v4 |
| 8 | g.115414139G>T | CA372062020 | TRPS1 | c.3769C>A (p.Gln1257Lys) c.3730C>A (p.Gln1244Lys) c.2992C>A (p.Gln998Lys) c.3742C>A (p.Gln1248Lys) c.3748C>A (p.Gln1250Lys) | |
| 8 | g.115414140G>A | CA462658123 | TRPS1 | c.3768C>T (p.Phe1256=) c.3729C>T (p.Phe1243=) c.2991C>T (p.Phe997=) c.3741C>T (p.Phe1247=) c.3747C>T (p.Phe1249=) | COSMIC COSMIC |
| 8 | g.115414140G>C | CA372062021 | TRPS1 | c.3768C>G (p.Phe1256Leu) c.3729C>G (p.Phe1243Leu) c.2991C>G (p.Phe997Leu) c.3741C>G (p.Phe1247Leu) c.3747C>G (p.Phe1249Leu) | |
| 8 | g.115414140G>T | CA372062022 | TRPS1 | c.3768C>A (p.Phe1256Leu) c.3729C>A (p.Phe1243Leu) c.2991C>A (p.Phe997Leu) c.3741C>A (p.Phe1247Leu) c.3747C>A (p.Phe1249Leu) | |
| 8 | g.115414141A>C | CA372062023 | TRPS1 | c.3767T>G (p.Phe1256Cys) c.3728T>G (p.Phe1243Cys) c.2990T>G (p.Phe997Cys) c.3740T>G (p.Phe1247Cys) c.3746T>G (p.Phe1249Cys) | |
| 8 | g.115414141A>G | CA372062024 | TRPS1 | c.3767T>C (p.Phe1256Ser) c.3728T>C (p.Phe1243Ser) c.2990T>C (p.Phe997Ser) c.3740T>C (p.Phe1247Ser) c.3746T>C (p.Phe1249Ser) | |
| 8 | g.115414141A>T | CA372062025 | TRPS1 | c.3767T>A (p.Phe1256Tyr) c.3728T>A (p.Phe1243Tyr) c.2990T>A (p.Phe997Tyr) c.3740T>A (p.Phe1247Tyr) c.3746T>A (p.Phe1249Tyr) | |
| 8 | g.115414142A>C | CA372062026 | TRPS1 | c.3766T>G (p.Phe1256Val) c.3727T>G (p.Phe1243Val) c.2989T>G (p.Phe997Val) c.3739T>G (p.Phe1247Val) c.3745T>G (p.Phe1249Val) | |
| 8 | g.115414142A>G | CA372062027 | TRPS1 | c.3766T>C (p.Phe1256Leu) c.3727T>C (p.Phe1243Leu) c.2989T>C (p.Phe997Leu) c.3739T>C (p.Phe1247Leu) c.3745T>C (p.Phe1249Leu) | |
| 8 | g.115414142A>T | CA372062028 | TRPS1 | c.3766T>A (p.Phe1256Ile) c.3727T>A (p.Phe1243Ile) c.2989T>A (p.Phe997Ile) c.3739T>A (p.Phe1247Ile) c.3745T>A (p.Phe1249Ile) | |
| 8 | g.115414143A>C | CA462658124 | TRPS1 | c.3765T>G (p.Pro1255=) c.3726T>G (p.Pro1242=) c.2988T>G (p.Pro996=) c.3738T>G (p.Pro1246=) c.3744T>G (p.Pro1248=) | |
| 8 | g.115414143A>G | CA462658125 | TRPS1 | c.3765T>C (p.Pro1255=) c.3726T>C (p.Pro1242=) c.2988T>C (p.Pro996=) c.3738T>C (p.Pro1246=) c.3744T>C (p.Pro1248=) | gnomAD v4 |
| 8 | g.115414143A>T | CA462658126 | TRPS1 | c.3765T>A (p.Pro1255=) c.3726T>A (p.Pro1242=) c.2988T>A (p.Pro996=) c.3738T>A (p.Pro1246=) c.3744T>A (p.Pro1248=) | |
| 8 | g.115414144G>A | CA372062031 | TRPS1 | c.3764C>T (p.Pro1255Leu) c.3725C>T (p.Pro1242Leu) c.2987C>T (p.Pro996Leu) c.3737C>T (p.Pro1246Leu) c.3743C>T (p.Pro1248Leu) | |
| 8 | g.115414144G>C | CA372062030 | TRPS1 | c.3764C>G (p.Pro1255Arg) c.3725C>G (p.Pro1242Arg) c.2987C>G (p.Pro996Arg) c.3737C>G (p.Pro1246Arg) c.3743C>G (p.Pro1248Arg) | |
| 8 | g.115414144G>T | CA372062029 | TRPS1 | c.3764C>A (p.Pro1255His) c.3725C>A (p.Pro1242His) c.2987C>A (p.Pro996His) c.3737C>A (p.Pro1246His) c.3743C>A (p.Pro1248His) | |
| 8 | g.115414145G>A | CA372062032 | TRPS1 | c.3763C>T (p.Pro1255Ser) c.3724C>T (p.Pro1242Ser) c.2986C>T (p.Pro996Ser) c.3736C>T (p.Pro1246Ser) c.3742C>T (p.Pro1248Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.115414145G>C | CA372062033 | TRPS1 | c.3763C>G (p.Pro1255Ala) c.3724C>G (p.Pro1242Ala) c.2986C>G (p.Pro996Ala) c.3736C>G (p.Pro1246Ala) c.3742C>G (p.Pro1248Ala) | |
| 8 | g.115414145G= | CA1812853669 | TRPS1 | c.3763C= (p.Pro1255=) c.3724C= (p.Pro1242=) c.2986C= (p.Pro996=) c.3736C= (p.Pro1246=) c.3742C= (p.Pro1248=) | |
| 8 | g.115414145G>T | CA372062034 | TRPS1 | c.3763C>A (p.Pro1255Thr) c.3724C>A (p.Pro1242Thr) c.2986C>A (p.Pro996Thr) c.3736C>A (p.Pro1246Thr) c.3742C>A (p.Pro1248Thr) | |
| 8 | g.115414146T>A | CA462658127 | TRPS1 | c.3762A>T (p.Gly1254=) c.3723A>T (p.Gly1241=) c.2985A>T (p.Gly995=) c.3735A>T (p.Gly1245=) c.3741A>T (p.Gly1247=) | |
| 8 | g.115414146T>C | CA462658128 | TRPS1 | c.3762A>G (p.Gly1254=) c.3723A>G (p.Gly1241=) c.2985A>G (p.Gly995=) c.3735A>G (p.Gly1245=) c.3741A>G (p.Gly1247=) | |
| 8 | g.115414146T>G | CA462658129 | TRPS1 | c.3762A>C (p.Gly1254=) c.3723A>C (p.Gly1241=) c.2985A>C (p.Gly995=) c.3735A>C (p.Gly1245=) c.3741A>C (p.Gly1247=) | dbSNP |
| 8 | g.115414147C>A | CA372062035 | TRPS1 | c.3761G>T (p.Gly1254Val) c.3722G>T (p.Gly1241Val) c.2984G>T (p.Gly995Val) c.3734G>T (p.Gly1245Val) c.3740G>T (p.Gly1247Val) | |
| 8 | g.115414147C>G | CA372062036 | TRPS1 | c.3761G>C (p.Gly1254Ala) c.3722G>C (p.Gly1241Ala) c.2984G>C (p.Gly995Ala) c.3734G>C (p.Gly1245Ala) c.3740G>C (p.Gly1247Ala) | gnomAD v4 |
| 8 | g.115414147C>T | CA372062037 | TRPS1 | c.3761G>A (p.Gly1254Glu) c.3722G>A (p.Gly1241Glu) c.2984G>A (p.Gly995Glu) c.3734G>A (p.Gly1245Glu) c.3740G>A (p.Gly1247Glu) | gnomAD v4 |
| 8 | g.115414148C>A | CA372062038 | TRPS1 | c.3760G>T (p.Gly1254Ter) c.3721G>T (p.Gly1241Ter) c.2983G>T (p.Gly995Ter) c.3733G>T (p.Gly1245Ter) c.3739G>T (p.Gly1247Ter) | |
| 8 | g.115414148C= | CA1812853672 | TRPS1 | c.3760G= (p.Gly1254=) c.3721G= (p.Gly1241=) c.2983G= (p.Gly995=) c.3733G= (p.Gly1245=) c.3739G= (p.Gly1247=) | |
| 8 | g.115414148C>G | CA372062039 | TRPS1 | c.3760G>C (p.Gly1254Arg) c.3721G>C (p.Gly1241Arg) c.2983G>C (p.Gly995Arg) c.3733G>C (p.Gly1245Arg) c.3739G>C (p.Gly1247Arg) | |
| 8 | g.115414148C>T | CA372062040 | TRPS1 | c.3760G>A (p.Gly1254Arg) c.3721G>A (p.Gly1241Arg) c.2983G>A (p.Gly995Arg) c.3733G>A (p.Gly1245Arg) c.3739G>A (p.Gly1247Arg) | dbSNP |
| 8 | g.115414149A>C | CA372062041 | TRPS1 | c.3759T>G (p.Ser1253Arg) c.3720T>G (p.Ser1240Arg) c.2982T>G (p.Ser994Arg) c.3732T>G (p.Ser1244Arg) c.3738T>G (p.Ser1246Arg) | |
| 8 | g.115414149A>G | CA462658130 | TRPS1 | c.3759T>C (p.Ser1253=) c.3720T>C (p.Ser1240=) c.2982T>C (p.Ser994=) c.3732T>C (p.Ser1244=) c.3738T>C (p.Ser1246=) | |
| 8 | g.115414149A>T | CA372062042 | TRPS1 | c.3759T>A (p.Ser1253Arg) c.3720T>A (p.Ser1240Arg) c.2982T>A (p.Ser994Arg) c.3732T>A (p.Ser1244Arg) c.3738T>A (p.Ser1246Arg) | |
| 8 | g.115414150C>A | CA372062043 | TRPS1 | c.3758G>T (p.Ser1253Ile) c.3719G>T (p.Ser1240Ile) c.2981G>T (p.Ser994Ile) c.3731G>T (p.Ser1244Ile) c.3737G>T (p.Ser1246Ile) | |
| 8 | g.115414150C= | CA1812853674 | TRPS1 | c.3758G= (p.Ser1253=) c.3719G= (p.Ser1240=) c.2981G= (p.Ser994=) c.3731G= (p.Ser1244=) c.3737G= (p.Ser1246=) | |
| 8 | g.115414150C>G | CA372062044 | TRPS1 | c.3758G>C (p.Ser1253Thr) c.3719G>C (p.Ser1240Thr) c.2981G>C (p.Ser994Thr) c.3731G>C (p.Ser1244Thr) c.3737G>C (p.Ser1246Thr) | |
| 8 | g.115414150C>T | CA4851450 | TRPS1 | c.3758G>A (p.Ser1253Asn) c.3719G>A (p.Ser1240Asn) c.2981G>A (p.Ser994Asn) c.3731G>A (p.Ser1244Asn) c.3737G>A (p.Ser1246Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414151T>A | CA372062046 | TRPS1 | c.3757A>T (p.Ser1253Cys) c.3718A>T (p.Ser1240Cys) c.2980A>T (p.Ser994Cys) c.3730A>T (p.Ser1244Cys) c.3736A>T (p.Ser1246Cys) | |
| 8 | g.115414151T>C | CA4851451 | TRPS1 | c.3757A>G (p.Ser1253Gly) c.3718A>G (p.Ser1240Gly) c.2980A>G (p.Ser994Gly) c.3730A>G (p.Ser1244Gly) c.3736A>G (p.Ser1246Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414151T>G | CA372062045 | TRPS1 | c.3757A>C (p.Ser1253Arg) c.3718A>C (p.Ser1240Arg) c.2980A>C (p.Ser994Arg) c.3730A>C (p.Ser1244Arg) c.3736A>C (p.Ser1246Arg) | |
| 8 | g.115414151T= | CA1812853676 | TRPS1 | c.3757A= (p.Ser1253=) c.3718A= (p.Ser1240=) c.2980A= (p.Ser994=) c.3730A= (p.Ser1244=) c.3736A= (p.Ser1246=) | |
| 8 | g.115414152G>A | CA462658131 | TRPS1 | c.3756C>T (p.Asp1252=) c.3717C>T (p.Asp1239=) c.2979C>T (p.Asp993=) c.3729C>T (p.Asp1243=) c.3735C>T (p.Asp1245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414152G>C | CA372062047 | TRPS1 | c.3756C>G (p.Asp1252Glu) c.3717C>G (p.Asp1239Glu) c.2979C>G (p.Asp993Glu) c.3729C>G (p.Asp1243Glu) c.3735C>G (p.Asp1245Glu) | |
| 8 | g.115414152G= | CA1812853678 | TRPS1 | c.3756C= (p.Asp1252=) c.3717C= (p.Asp1239=) c.2979C= (p.Asp993=) c.3729C= (p.Asp1243=) c.3735C= (p.Asp1245=) | |
| 8 | g.115414152G>T | CA372062048 | TRPS1 | c.3756C>A (p.Asp1252Glu) c.3717C>A (p.Asp1239Glu) c.2979C>A (p.Asp993Glu) c.3729C>A (p.Asp1243Glu) c.3735C>A (p.Asp1245Glu) | |
| 8 | g.115414153T>A | CA372062049 | TRPS1 | c.3755A>T (p.Asp1252Val) c.3716A>T (p.Asp1239Val) c.2978A>T (p.Asp993Val) c.3728A>T (p.Asp1243Val) c.3734A>T (p.Asp1245Val) | |
| 8 | g.115414153T>C | CA372062050 | TRPS1 | c.3755A>G (p.Asp1252Gly) c.3716A>G (p.Asp1239Gly) c.2978A>G (p.Asp993Gly) c.3728A>G (p.Asp1243Gly) c.3734A>G (p.Asp1245Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414153T>G | CA372062051 | TRPS1 | c.3755A>C (p.Asp1252Ala) c.3716A>C (p.Asp1239Ala) c.2978A>C (p.Asp993Ala) c.3728A>C (p.Asp1243Ala) c.3734A>C (p.Asp1245Ala) | |
| 8 | g.115414153T= | CA1812853681 | TRPS1 | c.3755A= (p.Asp1252=) c.3716A= (p.Asp1239=) c.2978A= (p.Asp993=) c.3728A= (p.Asp1243=) c.3734A= (p.Asp1245=) | |
| 8 | g.115414154C>A | CA372062052 | TRPS1 | c.3754G>T (p.Asp1252Tyr) c.3715G>T (p.Asp1239Tyr) c.2977G>T (p.Asp993Tyr) c.3727G>T (p.Asp1243Tyr) c.3733G>T (p.Asp1245Tyr) | |
| 8 | g.115414154C>G | CA372062053 | TRPS1 | c.3754G>C (p.Asp1252His) c.3715G>C (p.Asp1239His) c.2977G>C (p.Asp993His) c.3727G>C (p.Asp1243His) c.3733G>C (p.Asp1245His) | |
| 8 | g.115414154C>T | CA372062054 | TRPS1 | c.3754G>A (p.Asp1252Asn) c.3715G>A (p.Asp1239Asn) c.2977G>A (p.Asp993Asn) c.3727G>A (p.Asp1243Asn) c.3733G>A (p.Asp1245Asn) | |
| 8 | g.115414155A>C | CA462658133 | TRPS1 | c.3753T>G (p.Gly1251=) c.3714T>G (p.Gly1238=) c.2976T>G (p.Gly992=) c.3726T>G (p.Gly1242=) c.3732T>G (p.Gly1244=) | |
| 8 | g.115414155A>G | CA462658134 | TRPS1 | c.3753T>C (p.Gly1251=) c.3714T>C (p.Gly1238=) c.2976T>C (p.Gly992=) c.3726T>C (p.Gly1242=) c.3732T>C (p.Gly1244=) | |
| 8 | g.115414155A>T | CA462658132 | TRPS1 | c.3753T>A (p.Gly1251=) c.3714T>A (p.Gly1238=) c.2976T>A (p.Gly992=) c.3726T>A (p.Gly1242=) c.3732T>A (p.Gly1244=) | |
| 8 | g.115414156C>A | CA372062055 | TRPS1 | c.3752G>T (p.Gly1251Val) c.3713G>T (p.Gly1238Val) c.2975G>T (p.Gly992Val) c.3725G>T (p.Gly1242Val) c.3731G>T (p.Gly1244Val) | |
| 8 | g.115414156C>G | CA372062056 | TRPS1 | c.3752G>C (p.Gly1251Ala) c.3713G>C (p.Gly1238Ala) c.2975G>C (p.Gly992Ala) c.3725G>C (p.Gly1242Ala) c.3731G>C (p.Gly1244Ala) | |
| 8 | g.115414156C>T | CA372062057 | TRPS1 | c.3752G>A (p.Gly1251Asp) c.3713G>A (p.Gly1238Asp) c.2975G>A (p.Gly992Asp) c.3725G>A (p.Gly1242Asp) c.3731G>A (p.Gly1244Asp) | |
| 8 | g.115414157C>A | CA372062058 | TRPS1 | c.3751G>T (p.Gly1251Cys) c.3712G>T (p.Gly1238Cys) c.2974G>T (p.Gly992Cys) c.3724G>T (p.Gly1242Cys) c.3730G>T (p.Gly1244Cys) | |
| 8 | g.115414157C= | CA1812853686 | TRPS1 | c.3751G= (p.Gly1251=) c.3712G= (p.Gly1238=) c.2974G= (p.Gly992=) c.3724G= (p.Gly1242=) c.3730G= (p.Gly1244=) | |
| 8 | g.115414157C>G | CA372062059 | TRPS1 | c.3751G>C (p.Gly1251Arg) c.3712G>C (p.Gly1238Arg) c.2974G>C (p.Gly992Arg) c.3724G>C (p.Gly1242Arg) c.3730G>C (p.Gly1244Arg) | |
| 8 | g.115414157C>T | CA372062060 | TRPS1 | c.3751G>A (p.Gly1251Ser) c.3712G>A (p.Gly1238Ser) c.2974G>A (p.Gly992Ser) c.3724G>A (p.Gly1242Ser) c.3730G>A (p.Gly1244Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414158A= | CA1812853690 | TRPS1 | c.3750T= (p.His1250=) c.3711T= (p.His1237=) c.2973T= (p.His991=) c.3723T= (p.His1241=) c.3729T= (p.His1243=) | |
| 8 | g.115414158A>C | CA372062061 | TRPS1 | c.3750T>G (p.His1250Gln) c.3711T>G (p.His1237Gln) c.2973T>G (p.His991Gln) c.3723T>G (p.His1241Gln) c.3729T>G (p.His1243Gln) | |
| 8 | g.115414158A>G | CA462658135 | TRPS1 | c.3750T>C (p.His1250=) c.3711T>C (p.His1237=) c.2973T>C (p.His991=) c.3723T>C (p.His1241=) c.3729T>C (p.His1243=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414158A>T | CA372062062 | TRPS1 | c.3750T>A (p.His1250Gln) c.3711T>A (p.His1237Gln) c.2973T>A (p.His991Gln) c.3723T>A (p.His1241Gln) c.3729T>A (p.His1243Gln) | |
| 8 | g.115414159T>A | CA372062063 | TRPS1 | c.3749A>T (p.His1250Leu) c.3710A>T (p.His1237Leu) c.2972A>T (p.His991Leu) c.3722A>T (p.His1241Leu) c.3728A>T (p.His1243Leu) | |
| 8 | g.115414159T>C | CA372062064 | TRPS1 | c.3749A>G (p.His1250Arg) c.3710A>G (p.His1237Arg) c.2972A>G (p.His991Arg) c.3722A>G (p.His1241Arg) c.3728A>G (p.His1243Arg) | ClinVar |
| 8 | g.115414159T>G | CA372062065 | TRPS1 | c.3749A>C (p.His1250Pro) c.3710A>C (p.His1237Pro) c.2972A>C (p.His991Pro) c.3722A>C (p.His1241Pro) c.3728A>C (p.His1243Pro) | ClinVar dbSNP |
| 8 | g.115414160G>A | CA372062066 | TRPS1 | c.3748C>T (p.His1250Tyr) c.3709C>T (p.His1237Tyr) c.2971C>T (p.His991Tyr) c.3721C>T (p.His1241Tyr) c.3727C>T (p.His1243Tyr) | |
| 8 | g.115414160G>C | CA372062067 | TRPS1 | c.3748C>G (p.His1250Asp) c.3709C>G (p.His1237Asp) c.2971C>G (p.His991Asp) c.3721C>G (p.His1241Asp) c.3727C>G (p.His1243Asp) | |
| 8 | g.115414160G>T | CA372062068 | TRPS1 | c.3748C>A (p.His1250Asn) c.3709C>A (p.His1237Asn) c.2971C>A (p.His991Asn) c.3721C>A (p.His1241Asn) c.3727C>A (p.His1243Asn) | |
| 8 | g.115414161G>A | CA462658136 | TRPS1 | c.3747C>T (p.Cys1249=) c.3708C>T (p.Cys1236=) c.2970C>T (p.Cys990=) c.3720C>T (p.Cys1240=) c.3726C>T (p.Cys1242=) | |
| 8 | g.115414161G>C | CA372062069 | TRPS1 | c.3747C>G (p.Cys1249Trp) c.3708C>G (p.Cys1236Trp) c.2970C>G (p.Cys990Trp) c.3720C>G (p.Cys1240Trp) c.3726C>G (p.Cys1242Trp) | |
| 8 | g.115414161G>T | CA372062070 | TRPS1 | c.3747C>A (p.Cys1249Ter) c.3708C>A (p.Cys1236Ter) c.2970C>A (p.Cys990Ter) c.3720C>A (p.Cys1240Ter) c.3726C>A (p.Cys1242Ter) | |
| 8 | g.115414162C>A | CA372062071 | TRPS1 | c.3746G>T (p.Cys1249Phe) c.3707G>T (p.Cys1236Phe) c.2969G>T (p.Cys990Phe) c.3719G>T (p.Cys1240Phe) c.3725G>T (p.Cys1242Phe) | |
| 8 | g.115414162C>G | CA372062072 | TRPS1 | c.3746G>C (p.Cys1249Ser) c.3707G>C (p.Cys1236Ser) c.2969G>C (p.Cys990Ser) c.3719G>C (p.Cys1240Ser) c.3725G>C (p.Cys1242Ser) | |
| 8 | g.115414162C>T | CA372062073 | TRPS1 | c.3746G>A (p.Cys1249Tyr) c.3707G>A (p.Cys1236Tyr) c.2969G>A (p.Cys990Tyr) c.3719G>A (p.Cys1240Tyr) c.3725G>A (p.Cys1242Tyr) | |
| 8 | g.115414163A= | CA1812853693 | TRPS1 | c.3745T= (p.Cys1249=) c.3706T= (p.Cys1236=) c.2968T= (p.Cys990=) c.3718T= (p.Cys1240=) c.3724T= (p.Cys1242=) | |
| 8 | g.115414163A>C | CA372062074 | TRPS1 | c.3745T>G (p.Cys1249Gly) c.3706T>G (p.Cys1236Gly) c.2968T>G (p.Cys990Gly) c.3718T>G (p.Cys1240Gly) c.3724T>G (p.Cys1242Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414163A>G | CA372062076 | TRPS1 | c.3745T>C (p.Cys1249Arg) c.3706T>C (p.Cys1236Arg) c.2968T>C (p.Cys990Arg) c.3718T>C (p.Cys1240Arg) c.3724T>C (p.Cys1242Arg) | |
| 8 | g.115414163A>T | CA372062075 | TRPS1 | c.3745T>A (p.Cys1249Ser) c.3706T>A (p.Cys1236Ser) c.2968T>A (p.Cys990Ser) c.3718T>A (p.Cys1240Ser) c.3724T>A (p.Cys1242Ser) | |
| 8 | g.115414164A>C | CA372062077 | TRPS1 | c.3744T>G (p.Ser1248Arg) c.3705T>G (p.Ser1235Arg) c.2967T>G (p.Ser989Arg) c.3717T>G (p.Ser1239Arg) c.3723T>G (p.Ser1241Arg) | |
| 8 | g.115414164A>G | CA462658137 | TRPS1 | c.3744T>C (p.Ser1248=) c.3705T>C (p.Ser1235=) c.2967T>C (p.Ser989=) c.3717T>C (p.Ser1239=) c.3723T>C (p.Ser1241=) | |
| 8 | g.115414164A>T | CA372062078 | TRPS1 | c.3744T>A (p.Ser1248Arg) c.3705T>A (p.Ser1235Arg) c.2967T>A (p.Ser989Arg) c.3717T>A (p.Ser1239Arg) c.3723T>A (p.Ser1241Arg) |