UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115414025_115414038del | CA2688302494 | TRPS1 | c.3877_*5del (n.[c.3877_*5del;Lys1293Ter]) c.3838_*5del (n.[c.3838_*5del;Lys1280Ter]) c.3100_*5del (n.[c.3100_*5del;Lys1034Ter]) c.3850_*5del (n.[c.3850_*5del;Lys1284Ter]) c.3856_*5del (n.[c.3856_*5del;Lys1286Ter]) | gnomAD v4 |
| 8 | g.115414037T>A | CA372061785 | TRPS1 | c.3871A>T (p.Lys1291Ter) c.3832A>T (p.Lys1278Ter) c.3094A>T (p.Lys1032Ter) c.3844A>T (p.Lys1282Ter) c.3850A>T (p.Lys1284Ter) | |
| 8 | g.115414037T>C | CA372061786 | TRPS1 | c.3871A>G (p.Lys1291Glu) c.3832A>G (p.Lys1278Glu) c.3094A>G (p.Lys1032Glu) c.3844A>G (p.Lys1282Glu) c.3850A>G (p.Lys1284Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414037T>G | CA372061787 | TRPS1 | c.3871A>C (p.Lys1291Gln) c.3832A>C (p.Lys1278Gln) c.3094A>C (p.Lys1032Gln) c.3844A>C (p.Lys1282Gln) c.3850A>C (p.Lys1284Gln) | |
| 8 | g.115414037T= | CA1812853513 | TRPS1 | c.3871A= (p.Lys1291=) c.3832A= (p.Lys1278=) c.3094A= (p.Lys1032=) c.3844A= (p.Lys1282=) c.3850A= (p.Lys1284=) | |
| 8 | g.115414038T>A | CA462657857 | TRPS1 | c.3870A>T (p.Gly1290=) c.3831A>T (p.Gly1277=) c.3093A>T (p.Gly1031=) c.3843A>T (p.Gly1281=) c.3849A>T (p.Gly1283=) | |
| 8 | g.115414038T>C | CA462657858 | TRPS1 | c.3870A>G (p.Gly1290=) c.3831A>G (p.Gly1277=) c.3093A>G (p.Gly1031=) c.3843A>G (p.Gly1281=) c.3849A>G (p.Gly1283=) | |
| 8 | g.115414038T>G | CA462657859 | TRPS1 | c.3870A>C (p.Gly1290=) c.3831A>C (p.Gly1277=) c.3093A>C (p.Gly1031=) c.3843A>C (p.Gly1281=) c.3849A>C (p.Gly1283=) | |
| 8 | g.115414039C>A | CA372061788 | TRPS1 | c.3869G>T (p.Gly1290Val) c.3830G>T (p.Gly1277Val) c.3092G>T (p.Gly1031Val) c.3842G>T (p.Gly1281Val) c.3848G>T (p.Gly1283Val) | |
| 8 | g.115414039C= | CA1812853515 | TRPS1 | c.3869G= (p.Gly1290=) c.3830G= (p.Gly1277=) c.3092G= (p.Gly1031=) c.3842G= (p.Gly1281=) c.3848G= (p.Gly1283=) | |
| 8 | g.115414039C>G | CA372061789 | TRPS1 | c.3869G>C (p.Gly1290Ala) c.3830G>C (p.Gly1277Ala) c.3092G>C (p.Gly1031Ala) c.3842G>C (p.Gly1281Ala) c.3848G>C (p.Gly1283Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414039C>T | CA372061790 | TRPS1 | c.3869G>A (p.Gly1290Glu) c.3830G>A (p.Gly1277Glu) c.3092G>A (p.Gly1031Glu) c.3842G>A (p.Gly1281Glu) c.3848G>A (p.Gly1283Glu) | gnomAD v4 |
| 8 | g.115414040C>A | CA4851434 | TRPS1 | c.3868G>T (p.Gly1290Ter) c.3829G>T (p.Gly1277Ter) c.3091G>T (p.Gly1031Ter) c.3841G>T (p.Gly1281Ter) c.3847G>T (p.Gly1283Ter) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.115414040C= | CA1812853517 | TRPS1 | c.3868G= (p.Gly1290=) c.3829G= (p.Gly1277=) c.3091G= (p.Gly1031=) c.3841G= (p.Gly1281=) c.3847G= (p.Gly1283=) | |
| 8 | g.115414040C>G | CA372061792 | TRPS1 | c.3868G>C (p.Gly1290Arg) c.3829G>C (p.Gly1277Arg) c.3091G>C (p.Gly1031Arg) c.3841G>C (p.Gly1281Arg) c.3847G>C (p.Gly1283Arg) | |
| 8 | g.115414040C>T | CA372061791 | TRPS1 | c.3868G>A (p.Gly1290Arg) c.3829G>A (p.Gly1277Arg) c.3091G>A (p.Gly1031Arg) c.3841G>A (p.Gly1281Arg) c.3847G>A (p.Gly1283Arg) | COSMIC COSMIC |
| 8 | g.115414041A= | CA1812853519 | TRPS1 | c.3867T= (p.Asn1289=) c.3828T= (p.Asn1276=) c.3090T= (p.Asn1030=) c.3840T= (p.Asn1280=) c.3846T= (p.Asn1282=) | |
| 8 | g.115414041A>C | CA372061793 | TRPS1 | c.3867T>G (p.Asn1289Lys) c.3828T>G (p.Asn1276Lys) c.3090T>G (p.Asn1030Lys) c.3840T>G (p.Asn1280Lys) c.3846T>G (p.Asn1282Lys) | |
| 8 | g.115414041A>G | CA462657862 | TRPS1 | c.3867T>C (p.Asn1289=) c.3828T>C (p.Asn1276=) c.3090T>C (p.Asn1030=) c.3840T>C (p.Asn1280=) c.3846T>C (p.Asn1282=) | |
| 8 | g.115414041A>T | CA372061794 | TRPS1 | c.3867T>A (p.Asn1289Lys) c.3828T>A (p.Asn1276Lys) c.3090T>A (p.Asn1030Lys) c.3840T>A (p.Asn1280Lys) c.3846T>A (p.Asn1282Lys) | |
| 8 | g.115414042T>A | CA372061795 | TRPS1 | c.3866A>T (p.Asn1289Ile) c.3827A>T (p.Asn1276Ile) c.3089A>T (p.Asn1030Ile) c.3839A>T (p.Asn1280Ile) c.3845A>T (p.Asn1282Ile) | |
| 8 | g.115414042T>C | CA372061796 | TRPS1 | c.3866A>G (p.Asn1289Ser) c.3827A>G (p.Asn1276Ser) c.3089A>G (p.Asn1030Ser) c.3839A>G (p.Asn1280Ser) c.3845A>G (p.Asn1282Ser) | gnomAD v4 |
| 8 | g.115414042T>G | CA372061797 | TRPS1 | c.3866A>C (p.Asn1289Thr) c.3827A>C (p.Asn1276Thr) c.3089A>C (p.Asn1030Thr) c.3839A>C (p.Asn1280Thr) c.3845A>C (p.Asn1282Thr) | |
| 8 | g.115414048dup | CA462657866 | TRPS1 | c.3866dup (p.Asn1289LysfsTer5) c.3827dup (p.Asn1276LysfsTer5) c.3089dup (p.Asn1030LysfsTer5) c.3839dup (p.Asn1280LysfsTer5) c.3845dup (p.Asn1282LysfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414048del | CA462657867 | TRPS1 | c.3866del (p.Asn1289MetfsTer16) c.3827del (p.Asn1276MetfsTer16) c.3089del (p.Asn1030MetfsTer16) c.3839del (p.Asn1280MetfsTer16) c.3845del (p.Asn1282MetfsTer16) | gnomAD v4 COSMIC COSMIC |
| 8 | g.115414042_115414043insA | CA462657868 | TRPS1 | c.3865_3866insT (p.Asn1289IlefsTer5) c.3826_3827insT (p.Asn1276IlefsTer5) c.3088_3089insT (p.Asn1030IlefsTer5) c.3838_3839insT (p.Asn1280IlefsTer5) c.3844_3845insT (p.Asn1282IlefsTer5) | |
| 8 | g.115414043T>A | CA372061798 | TRPS1 | c.3865A>T (p.Asn1289Tyr) c.3826A>T (p.Asn1276Tyr) c.3088A>T (p.Asn1030Tyr) c.3838A>T (p.Asn1280Tyr) c.3844A>T (p.Asn1282Tyr) | |
| 8 | g.115414043T>C | CA372061799 | TRPS1 | c.3865A>G (p.Asn1289Asp) c.3826A>G (p.Asn1276Asp) c.3088A>G (p.Asn1030Asp) c.3838A>G (p.Asn1280Asp) c.3844A>G (p.Asn1282Asp) | |
| 8 | g.115414043T>G | CA372061800 | TRPS1 | c.3865A>C (p.Asn1289His) c.3826A>C (p.Asn1276His) c.3088A>C (p.Asn1030His) c.3838A>C (p.Asn1280His) c.3844A>C (p.Asn1282His) | |
| 8 | g.115414044T>A | CA372061801 | TRPS1 | c.3864A>T (p.Lys1288Asn) c.3825A>T (p.Lys1275Asn) c.3087A>T (p.Lys1029Asn) c.3837A>T (p.Lys1279Asn) c.3843A>T (p.Lys1281Asn) | |
| 8 | g.115414044T>C | CA462657869 | TRPS1 | c.3864A>G (p.Lys1288=) c.3825A>G (p.Lys1275=) c.3087A>G (p.Lys1029=) c.3837A>G (p.Lys1279=) c.3843A>G (p.Lys1281=) | COSMIC COSMIC |
| 8 | g.115414044T>G | CA372061802 | TRPS1 | c.3864A>C (p.Lys1288Asn) c.3825A>C (p.Lys1275Asn) c.3087A>C (p.Lys1029Asn) c.3837A>C (p.Lys1279Asn) c.3843A>C (p.Lys1281Asn) | |
| 8 | g.115414045T>A | CA372061803 | TRPS1 | c.3863A>T (p.Lys1288Ile) c.3824A>T (p.Lys1275Ile) c.3086A>T (p.Lys1029Ile) c.3836A>T (p.Lys1279Ile) c.3842A>T (p.Lys1281Ile) | |
| 8 | g.115414045T>C | CA372061804 | TRPS1 | c.3863A>G (p.Lys1288Arg) c.3824A>G (p.Lys1275Arg) c.3086A>G (p.Lys1029Arg) c.3836A>G (p.Lys1279Arg) c.3842A>G (p.Lys1281Arg) | |
| 8 | g.115414045T>G | CA372061805 | TRPS1 | c.3863A>C (p.Lys1288Thr) c.3824A>C (p.Lys1275Thr) c.3086A>C (p.Lys1029Thr) c.3836A>C (p.Lys1279Thr) c.3842A>C (p.Lys1281Thr) | |
| 8 | g.115414046T>A | CA372061807 | TRPS1 | c.3862A>T (p.Lys1288Ter) c.3823A>T (p.Lys1275Ter) c.3085A>T (p.Lys1029Ter) c.3835A>T (p.Lys1279Ter) c.3841A>T (p.Lys1281Ter) | |
| 8 | g.115414046T>C | CA184469212 | TRPS1 | c.3862A>G (p.Lys1288Glu) c.3823A>G (p.Lys1275Glu) c.3085A>G (p.Lys1029Glu) c.3835A>G (p.Lys1279Glu) c.3841A>G (p.Lys1281Glu) | dbSNP |
| 8 | g.115414046T>G | CA372061806 | TRPS1 | c.3862A>C (p.Lys1288Gln) c.3823A>C (p.Lys1275Gln) c.3085A>C (p.Lys1029Gln) c.3835A>C (p.Lys1279Gln) c.3841A>C (p.Lys1281Gln) | |
| 8 | g.115414046T= | CA1812853529 | TRPS1 | c.3862A= (p.Lys1288=) c.3823A= (p.Lys1275=) c.3085A= (p.Lys1029=) c.3835A= (p.Lys1279=) c.3841A= (p.Lys1281=) | |
| 8 | g.115414047T>A | CA372061809 | TRPS1 | c.3861A>T (p.Glu1287Asp) c.3822A>T (p.Glu1274Asp) c.3084A>T (p.Glu1028Asp) c.3834A>T (p.Glu1278Asp) c.3840A>T (p.Glu1280Asp) | |
| 8 | g.115414047T>C | CA462657877 | TRPS1 | c.3861A>G (p.Glu1287=) c.3822A>G (p.Glu1274=) c.3084A>G (p.Glu1028=) c.3834A>G (p.Glu1278=) c.3840A>G (p.Glu1280=) | |
| 8 | g.115414047T>G | CA372061808 | TRPS1 | c.3861A>C (p.Glu1287Asp) c.3822A>C (p.Glu1274Asp) c.3084A>C (p.Glu1028Asp) c.3834A>C (p.Glu1278Asp) c.3840A>C (p.Glu1280Asp) | |
| 8 | g.115414048T>A | CA372061810 | TRPS1 | c.3860A>T (p.Glu1287Val) c.3821A>T (p.Glu1274Val) c.3083A>T (p.Glu1028Val) c.3833A>T (p.Glu1278Val) c.3839A>T (p.Glu1280Val) | |
| 8 | g.115414048T>C | CA372061811 | TRPS1 | c.3860A>G (p.Glu1287Gly) c.3821A>G (p.Glu1274Gly) c.3083A>G (p.Glu1028Gly) c.3833A>G (p.Glu1278Gly) c.3839A>G (p.Glu1280Gly) | gnomAD v4 |
| 8 | g.115414048T>G | CA372061812 | TRPS1 | c.3860A>C (p.Glu1287Ala) c.3821A>C (p.Glu1274Ala) c.3083A>C (p.Glu1028Ala) c.3833A>C (p.Glu1278Ala) c.3839A>C (p.Glu1280Ala) | |
| 8 | g.115414049C>A | CA372061813 | TRPS1 | c.3859G>T (p.Glu1287Ter) c.3820G>T (p.Glu1274Ter) c.3082G>T (p.Glu1028Ter) c.3832G>T (p.Glu1278Ter) c.3838G>T (p.Glu1280Ter) | |
| 8 | g.115414049C>G | CA372061814 | TRPS1 | c.3859G>C (p.Glu1287Gln) c.3820G>C (p.Glu1274Gln) c.3082G>C (p.Glu1028Gln) c.3832G>C (p.Glu1278Gln) c.3838G>C (p.Glu1280Gln) | |
| 8 | g.115414049C>T | CA372061815 | TRPS1 | c.3859G>A (p.Glu1287Lys) c.3820G>A (p.Glu1274Lys) c.3082G>A (p.Glu1028Lys) c.3832G>A (p.Glu1278Lys) c.3838G>A (p.Glu1280Lys) | |
| 8 | g.115414049_115414052del | CA2688302500 | TRPS1 | c.3856_3859del (p.Val1286LysfsTer18) c.3817_3820del (p.Val1273LysfsTer18) c.3079_3082del (p.Val1027LysfsTer18) c.3829_3832del (p.Val1277LysfsTer18) c.3835_3838del (p.Val1279LysfsTer18) | gnomAD v4 |
| 8 | g.115414050C>A | CA462657892 | TRPS1 | c.3858G>T (p.Val1286=) c.3819G>T (p.Val1273=) c.3081G>T (p.Val1027=) c.3831G>T (p.Val1277=) c.3837G>T (p.Val1279=) | |
| 8 | g.115414050C>G | CA462657894 | TRPS1 | c.3858G>C (p.Val1286=) c.3819G>C (p.Val1273=) c.3081G>C (p.Val1027=) c.3831G>C (p.Val1277=) c.3837G>C (p.Val1279=) | |
| 8 | g.115414050C>T | CA462657897 | TRPS1 | c.3858G>A (p.Val1286=) c.3819G>A (p.Val1273=) c.3081G>A (p.Val1027=) c.3831G>A (p.Val1277=) c.3837G>A (p.Val1279=) | COSMIC COSMIC |
| 8 | g.115414051A= | CA1812853531 | TRPS1 | c.3857T= (p.Val1286=) c.3818T= (p.Val1273=) c.3080T= (p.Val1027=) c.3830T= (p.Val1277=) c.3836T= (p.Val1279=) | |
| 8 | g.115414051A>C | CA372061816 | TRPS1 | c.3857T>G (p.Val1286Gly) c.3818T>G (p.Val1273Gly) c.3080T>G (p.Val1027Gly) c.3830T>G (p.Val1277Gly) c.3836T>G (p.Val1279Gly) | |
| 8 | g.115414051A>G | CA372061817 | TRPS1 | c.3857T>C (p.Val1286Ala) c.3818T>C (p.Val1273Ala) c.3080T>C (p.Val1027Ala) c.3830T>C (p.Val1277Ala) c.3836T>C (p.Val1279Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115414051A>T | CA372061818 | TRPS1 | c.3857T>A (p.Val1286Glu) c.3818T>A (p.Val1273Glu) c.3080T>A (p.Val1027Glu) c.3830T>A (p.Val1277Glu) c.3836T>A (p.Val1279Glu) | |
| 8 | g.115414052C>A | CA372061819 | TRPS1 | c.3856G>T (p.Val1286Leu) c.3817G>T (p.Val1273Leu) c.3079G>T (p.Val1027Leu) c.3829G>T (p.Val1277Leu) c.3835G>T (p.Val1279Leu) | |
| 8 | g.115414052C= | CA1812853535 | TRPS1 | c.3856G= (p.Val1286=) c.3817G= (p.Val1273=) c.3079G= (p.Val1027=) c.3829G= (p.Val1277=) c.3835G= (p.Val1279=) | |
| 8 | g.115414052C>G | CA4851435 | TRPS1 | c.3856G>C (p.Val1286Leu) c.3817G>C (p.Val1273Leu) c.3079G>C (p.Val1027Leu) c.3829G>C (p.Val1277Leu) c.3835G>C (p.Val1279Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414052C>T | CA372061820 | TRPS1 | c.3856G>A (p.Val1286Met) c.3817G>A (p.Val1273Met) c.3079G>A (p.Val1027Met) c.3829G>A (p.Val1277Met) c.3835G>A (p.Val1279Met) | gnomAD v4 |
| 8 | g.115414053T>A | CA372061822 | TRPS1 | c.3855A>T (p.Gln1285His) c.3816A>T (p.Gln1272His) c.3078A>T (p.Gln1026His) c.3828A>T (p.Gln1276His) c.3834A>T (p.Gln1278His) | |
| 8 | g.115414053T>C | CA462657913 | TRPS1 | c.3855A>G (p.Gln1285=) c.3816A>G (p.Gln1272=) c.3078A>G (p.Gln1026=) c.3828A>G (p.Gln1276=) c.3834A>G (p.Gln1278=) | |
| 8 | g.115414053T>G | CA372061821 | TRPS1 | c.3855A>C (p.Gln1285His) c.3816A>C (p.Gln1272His) c.3078A>C (p.Gln1026His) c.3828A>C (p.Gln1276His) c.3834A>C (p.Gln1278His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414053T= | CA1812853537 | TRPS1 | c.3855A= (p.Gln1285=) c.3816A= (p.Gln1272=) c.3078A= (p.Gln1026=) c.3828A= (p.Gln1276=) c.3834A= (p.Gln1278=) | |
| 8 | g.115414054T>A | CA372061823 | TRPS1 | c.3854A>T (p.Gln1285Leu) c.3815A>T (p.Gln1272Leu) c.3077A>T (p.Gln1026Leu) c.3827A>T (p.Gln1276Leu) c.3833A>T (p.Gln1278Leu) | |
| 8 | g.115414054T>C | CA372061824 | TRPS1 | c.3854A>G (p.Gln1285Arg) c.3815A>G (p.Gln1272Arg) c.3077A>G (p.Gln1026Arg) c.3827A>G (p.Gln1276Arg) c.3833A>G (p.Gln1278Arg) | |
| 8 | g.115414054T>G | CA372061825 | TRPS1 | c.3854A>C (p.Gln1285Pro) c.3815A>C (p.Gln1272Pro) c.3077A>C (p.Gln1026Pro) c.3827A>C (p.Gln1276Pro) c.3833A>C (p.Gln1278Pro) | |
| 8 | g.115414055G>A | CA4851436 | TRPS1 | c.3853C>T (p.Gln1285Ter) c.3814C>T (p.Gln1272Ter) c.3076C>T (p.Gln1026Ter) c.3826C>T (p.Gln1276Ter) c.3832C>T (p.Gln1278Ter) | dbSNP ExAC gnomAD v4 |
| 8 | g.115414055G>C | CA372061826 | TRPS1 | c.3853C>G (p.Gln1285Glu) c.3814C>G (p.Gln1272Glu) c.3076C>G (p.Gln1026Glu) c.3826C>G (p.Gln1276Glu) c.3832C>G (p.Gln1278Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414055G= | CA1812853541 | TRPS1 | c.3853C= (p.Gln1285=) c.3814C= (p.Gln1272=) c.3076C= (p.Gln1026=) c.3826C= (p.Gln1276=) c.3832C= (p.Gln1278=) | |
| 8 | g.115414055G>T | CA372061827 | TRPS1 | c.3853C>A (p.Gln1285Lys) c.3814C>A (p.Gln1272Lys) c.3076C>A (p.Gln1026Lys) c.3826C>A (p.Gln1276Lys) c.3832C>A (p.Gln1278Lys) | gnomAD v3 gnomAD v4 |
| 8 | g.115414056T>A | CA462657925 | TRPS1 | c.3852A>T (p.Ala1284=) c.3813A>T (p.Ala1271=) c.3075A>T (p.Ala1025=) c.3825A>T (p.Ala1275=) c.3831A>T (p.Ala1277=) | |
| 8 | g.115414056T>C | CA462657927 | TRPS1 | c.3852A>G (p.Ala1284=) c.3813A>G (p.Ala1271=) c.3075A>G (p.Ala1025=) c.3825A>G (p.Ala1275=) c.3831A>G (p.Ala1277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414056T>G | CA462657929 | TRPS1 | c.3852A>C (p.Ala1284=) c.3813A>C (p.Ala1271=) c.3075A>C (p.Ala1025=) c.3825A>C (p.Ala1275=) c.3831A>C (p.Ala1277=) | |
| 8 | g.115414056T= | CA1812853543 | TRPS1 | c.3852A= (p.Ala1284=) c.3813A= (p.Ala1271=) c.3075A= (p.Ala1025=) c.3825A= (p.Ala1275=) c.3831A= (p.Ala1277=) | |
| 8 | g.115414057G>A | CA4851437 | TRPS1 | c.3851C>T (p.Ala1284Val) c.3812C>T (p.Ala1271Val) c.3074C>T (p.Ala1025Val) c.3824C>T (p.Ala1275Val) c.3830C>T (p.Ala1277Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414057G>C | CA372061828 | TRPS1 | c.3851C>G (p.Ala1284Gly) c.3812C>G (p.Ala1271Gly) c.3074C>G (p.Ala1025Gly) c.3824C>G (p.Ala1275Gly) c.3830C>G (p.Ala1277Gly) | |
| 8 | g.115414057G= | CA1812853549 | TRPS1 | c.3851C= (p.Ala1284=) c.3812C= (p.Ala1271=) c.3074C= (p.Ala1025=) c.3824C= (p.Ala1275=) c.3830C= (p.Ala1277=) | |
| 8 | g.115414057G>T | CA372061829 | TRPS1 | c.3851C>A (p.Ala1284Glu) c.3812C>A (p.Ala1271Glu) c.3074C>A (p.Ala1025Glu) c.3824C>A (p.Ala1275Glu) c.3830C>A (p.Ala1277Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414058C>A | CA372061830 | TRPS1 | c.3850G>T (p.Ala1284Ser) c.3811G>T (p.Ala1271Ser) c.3073G>T (p.Ala1025Ser) c.3823G>T (p.Ala1275Ser) c.3829G>T (p.Ala1277Ser) | |
| 8 | g.115414058C= | CA1812853552 | TRPS1 | c.3850G= (p.Ala1284=) c.3811G= (p.Ala1271=) c.3073G= (p.Ala1025=) c.3823G= (p.Ala1275=) c.3829G= (p.Ala1277=) | |
| 8 | g.115414058C>G | CA372061831 | TRPS1 | c.3850G>C (p.Ala1284Pro) c.3811G>C (p.Ala1271Pro) c.3073G>C (p.Ala1025Pro) c.3823G>C (p.Ala1275Pro) c.3829G>C (p.Ala1277Pro) | |
| 8 | g.115414058C>T | CA372061832 | TRPS1 | c.3850G>A (p.Ala1284Thr) c.3811G>A (p.Ala1271Thr) c.3073G>A (p.Ala1025Thr) c.3823G>A (p.Ala1275Thr) c.3829G>A (p.Ala1277Thr) | dbSNP |
| 8 | g.115414059A>C | CA372061833 | TRPS1 | c.3849T>G (p.Asn1283Lys) c.3810T>G (p.Asn1270Lys) c.3072T>G (p.Asn1024Lys) c.3822T>G (p.Asn1274Lys) c.3828T>G (p.Asn1276Lys) | |
| 8 | g.115414059A>G | CA462657940 | TRPS1 | c.3849T>C (p.Asn1283=) c.3810T>C (p.Asn1270=) c.3072T>C (p.Asn1024=) c.3822T>C (p.Asn1274=) c.3828T>C (p.Asn1276=) | gnomAD v4 |
| 8 | g.115414059A>T | CA372061834 | TRPS1 | c.3849T>A (p.Asn1283Lys) c.3810T>A (p.Asn1270Lys) c.3072T>A (p.Asn1024Lys) c.3822T>A (p.Asn1274Lys) c.3828T>A (p.Asn1276Lys) | |
| 8 | g.115414060T>A | CA372061836 | TRPS1 | c.3848A>T (p.Asn1283Ile) c.3809A>T (p.Asn1270Ile) c.3071A>T (p.Asn1024Ile) c.3821A>T (p.Asn1274Ile) c.3827A>T (p.Asn1276Ile) | |
| 8 | g.115414060T>C | CA4851438 | TRPS1 | c.3848A>G (p.Asn1283Ser) c.3809A>G (p.Asn1270Ser) c.3071A>G (p.Asn1024Ser) c.3821A>G (p.Asn1274Ser) c.3827A>G (p.Asn1276Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414060T>G | CA372061835 | TRPS1 | c.3848A>C (p.Asn1283Thr) c.3809A>C (p.Asn1270Thr) c.3071A>C (p.Asn1024Thr) c.3821A>C (p.Asn1274Thr) c.3827A>C (p.Asn1276Thr) | |
| 8 | g.115414060T= | CA1812853555 | TRPS1 | c.3848A= (p.Asn1283=) c.3809A= (p.Asn1270=) c.3071A= (p.Asn1024=) c.3821A= (p.Asn1274=) c.3827A= (p.Asn1276=) | |
| 8 | g.115414061T>A | CA372061837 | TRPS1 | c.3847A>T (p.Asn1283Tyr) c.3808A>T (p.Asn1270Tyr) c.3070A>T (p.Asn1024Tyr) c.3820A>T (p.Asn1274Tyr) c.3826A>T (p.Asn1276Tyr) | |
| 8 | g.115414061T>C | CA184469216 | TRPS1 | c.3847A>G (p.Asn1283Asp) c.3808A>G (p.Asn1270Asp) c.3070A>G (p.Asn1024Asp) c.3820A>G (p.Asn1274Asp) c.3826A>G (p.Asn1276Asp) | dbSNP gnomAD v4 |
| 8 | g.115414061T>G | CA372061838 | TRPS1 | c.3847A>C (p.Asn1283His) c.3808A>C (p.Asn1270His) c.3070A>C (p.Asn1024His) c.3820A>C (p.Asn1274His) c.3826A>C (p.Asn1276His) | |
| 8 | g.115414061T= | CA1812853559 | TRPS1 | c.3847A= (p.Asn1283=) c.3808A= (p.Asn1270=) c.3070A= (p.Asn1024=) c.3820A= (p.Asn1274=) c.3826A= (p.Asn1276=) | |
| 8 | g.115414062G>A | CA462657950 | TRPS1 | c.3846C>T (p.Asn1282=) c.3807C>T (p.Asn1269=) c.3069C>T (p.Asn1023=) c.3819C>T (p.Asn1273=) c.3825C>T (p.Asn1275=) | |
| 8 | g.115414062G>C | CA372061839 | TRPS1 | c.3846C>G (p.Asn1282Lys) c.3807C>G (p.Asn1269Lys) c.3069C>G (p.Asn1023Lys) c.3819C>G (p.Asn1273Lys) c.3825C>G (p.Asn1275Lys) | |
| 8 | g.115414062G= | CA1812853561 | TRPS1 | c.3846C= (p.Asn1282=) c.3807C= (p.Asn1269=) c.3069C= (p.Asn1023=) c.3819C= (p.Asn1273=) c.3825C= (p.Asn1275=) | |
| 8 | g.115414062G>T | CA372061840 | TRPS1 | c.3846C>A (p.Asn1282Lys) c.3807C>A (p.Asn1269Lys) c.3069C>A (p.Asn1023Lys) c.3819C>A (p.Asn1273Lys) c.3825C>A (p.Asn1275Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414063T>A | CA372061841 | TRPS1 | c.3845A>T (p.Asn1282Ile) c.3806A>T (p.Asn1269Ile) c.3068A>T (p.Asn1023Ile) c.3818A>T (p.Asn1273Ile) c.3824A>T (p.Asn1275Ile) | gnomAD v4 |
| 8 | g.115414063T>C | CA4851439 | TRPS1 | c.3845A>G (p.Asn1282Ser) c.3806A>G (p.Asn1269Ser) c.3068A>G (p.Asn1023Ser) c.3818A>G (p.Asn1273Ser) c.3824A>G (p.Asn1275Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115414063T>G | CA372061842 | TRPS1 | c.3845A>C (p.Asn1282Thr) c.3806A>C (p.Asn1269Thr) c.3068A>C (p.Asn1023Thr) c.3818A>C (p.Asn1273Thr) c.3824A>C (p.Asn1275Thr) | gnomAD v4 |
| 8 | g.115414063T= | CA1812853565 | TRPS1 | c.3845A= (p.Asn1282=) c.3806A= (p.Asn1269=) c.3068A= (p.Asn1023=) c.3818A= (p.Asn1273=) c.3824A= (p.Asn1275=) | |
| 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=) |