| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115413970G>C | CA2688302485 | TRPS1 | c.*53C>G (n.*53C>G) | gnomAD v4 |
| 8 | g.115413970G>T | CA2688302486 | TRPS1 | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 8 | g.115413972A>C | CA2688302487 | TRPS1 | c.*51T>G (n.*51T>G) | gnomAD v4 |
| 8 | g.115413973T>C | CA4851427 | TRPS1 | c.*50A>G (n.*50A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413973T= | CA1812853455 | TRPS1 | c.*50A= (n.*50A=) | |
| 8 | g.115413974T>A | CA1118165718 | TRPS1 | c.*49A>T (n.*49A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413974T= | CA1812853458 | TRPS1 | c.*49A= (n.*49A=) | |
| 8 | g.115413975C= | CA1812853461 | TRPS1 | c.*48G= (n.*48G=) | |
| 8 | g.115413975C>T | CA584815764 | TRPS1 | c.*48G>A (n.*48G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413976C>A | CA1118165723 | TRPS1 | c.*47G>T (n.*47G>T) | gnomAD v3 gnomAD v4 |
| 8 | g.115413976C= | CA1812853463 | TRPS1 | c.*47G= (n.*47G=) | |
| 8 | g.115413976C>T | CA4851428 | TRPS1 | c.*47G>A (n.*47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115413978A>T | CA2523962615 | TRPS1 | c.*45T>A (n.*45T>A) | |
| 8 | g.115413979T>G | CA2718161047 | TRPS1 | c.*44A>C (n.*44A>C) | dbSNP |
| 8 | g.115413980C= | CA1812853465 | TRPS1 | c.*43G= (n.*43G=) | |
| 8 | g.115413980C>G | CA4851429 | TRPS1 | c.*43G>C (n.*43G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413981_115413991del | CA2517466820 | TRPS1 | c.*32_*42del (n.*32_*42del) | |
| 8 | g.115413982A>G | CA2688302488 | TRPS1 | c.*41T>C (n.*41T>C) | gnomAD v4 |
| 8 | g.115413983G>A | CA1812853468 | TRPS1 | c.*40C>T (n.*40C>T) | dbSNP |
| 8 | g.115413983G>C | CA2688302489 | TRPS1 | c.*40C>G (n.*40C>G) | gnomAD v4 |
| 8 | g.115413983G= | CA1812853467 | TRPS1 | c.*40C= (n.*40C=) | |
| 8 | g.115413984A>G | CA2579259383 | TRPS1 | c.*39T>C (n.*39T>C) | |
| 8 | g.115413986A= | CA1812853469 | TRPS1 | c.*37T= (n.*37T=) | |
| 8 | g.115413986_115413987insG | CA652947529 | TRPS1 | c.*36_*37insC (n.*36_*37insC) | COSMIC |
| 8 | g.115413986_115413987insGC | CA846012961 | TRPS1 | c.*36_*37insGC (n.*36_*37insGC) | dbSNP |
| 8 | g.115413988C>A | CA1812853474 | TRPS1 | c.*35G>T (n.*35G>T) | dbSNP |
| 8 | g.115413988C= | CA1812853473 | TRPS1 | c.*35G= (n.*35G=) | |
| 8 | g.115413988_115413996delinsCCTATTTCT | CA1812853471 | TRPS1 | c.*27_*35delinsAGAAATAGG (n.*27_*35delinsAGAAATAGG) | |
| 8 | g.115413989C= | CA1812853476 | TRPS1 | c.*34G= (n.*34G=) | |
| 8 | g.115413989C>T | CA184469186 | TRPS1 | c.*34G>A (n.*34G>A) | dbSNP |
| 8 | g.115413989_115413996del | CA846012965 | TRPS1 | c.*27_*34del (n.*27_*34del) | dbSNP |
| 8 | g.115413990T>C | CA4851430 | TRPS1 | c.*33A>G (n.*33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115413990T= | CA1812853478 | TRPS1 | c.*33A= (n.*33A=) | |
| 8 | g.115413991A>G | CA2688302490 | TRPS1 | c.*32T>C (n.*32T>C) | gnomAD v4 |
| 8 | g.115413994_115413995insTG | CA2553698152 | TRPS1 | c.*28_*29insCA (n.*28_*29insCA) | |
| 8 | g.115413995C>A | CA2718161061 | TRPS1 | c.*28G>T (n.*28G>T) | dbSNP |
| 8 | g.115413995C>G | CA2688302491 | TRPS1 | c.*28G>C (n.*28G>C) | gnomAD v4 |
| 8 | g.115413995C>T | CA2562036618 | TRPS1 | c.*28G>A (n.*28G>A) | |
| 8 | g.115413997A>G | CA2579259384 | TRPS1 | c.*26T>C (n.*26T>C) | |
| 8 | g.115413998T>A | CA184469188 | TRPS1 | c.*25A>T (n.*25A>T) | dbSNP |
| 8 | g.115413998T>C | CA2688302492 | TRPS1 | c.*25A>G (n.*25A>G) | gnomAD v4 |
| 8 | g.115413998T= | CA1812853479 | TRPS1 | c.*25A= (n.*25A=) | |
| 8 | g.115414000T>C | CA1812853482 | TRPS1 | c.*23A>G (n.*23A>G) | dbSNP |
| 8 | g.115414000T= | CA1812853481 | TRPS1 | c.*23A= (n.*23A=) | |
| 8 | g.115414005G>A | CA2781846460 | TRPS1 | c.*18C>T (n.*18C>T) | |
| 8 | g.115414013_115414019del | CA2688302493 | TRPS1 | c.*12_*18del (n.*12_*18del) | gnomAD v4 |
| 8 | g.115414007G>C | CA4851431 | TRPS1 | c.*16C>G (n.*16C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115414007G= | CA1812853484 | TRPS1 | c.*16C= (n.*16C=) | |
| 8 | g.115414009T>G | CA2532959776 | TRPS1 | c.*14A>C (n.*14A>C) | gnomAD v4 |
| 8 | g.115414009dup | CA652947532 | TRPS1 | c.*14dup (n.*14dup) | COSMIC |
| 8 | g.115414012G>A | CA2579259385 | TRPS1 | c.*11C>T (n.*11C>T) | gnomAD v4 |
| 8 | g.115414015C= | CA1812853485 | TRPS1 | c.*8G= (n.*8G=) | |
| 8 | g.115414015C>T | CA4851432 | TRPS1 | c.*8G>A (n.*8G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.115414017A= | CA1812853487 | TRPS1 | c.*6T= (n.*6T=) | |
| 8 | g.115414017A>G | CA1812853489 | TRPS1 | c.*6T>C (n.*6T>C) | dbSNP |
| 8 | g.115414018A= | CA1812853493 | TRPS1 | c.*5T= (n.*5T=) | |
| 8 | g.115414018A>C | CA2688302495 | TRPS1 | c.*5T>G (n.*5T>G) | gnomAD v4 |
| 8 | g.115414018A>T | CA4851433 | TRPS1 | c.*5T>A (n.*5T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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.115414019G>A | CA2688302496 | TRPS1 | c.*4C>T (n.*4C>T) | gnomAD v4 |
| 8 | g.115414020G>A | CA2688302497 | TRPS1 | c.*3C>T (n.*3C>T) | gnomAD v4 |
| 8 | g.115414021T>G | CA2688302498 | TRPS1 | c.*2A>C (n.*2A>C) | gnomAD v4 |
| 8 | g.115414024del | CA2579259386 | TRPS1 | c.*2del (n.*2del) | |
| 8 | g.115414023T>A | CA372061751 | TRPS1 | c.3885A>T (p.Ter1295Tyr) c.3846A>T (p.Ter1282Tyr) c.3108A>T (p.Ter1036Tyr) c.3858A>T (p.Ter1286Tyr) c.3864A>T (p.Ter1288Tyr) | |
| 8 | g.115414023T>C | CA462657841 | TRPS1 | c.3885A>G (p.Ter1295=) c.3846A>G (p.Ter1282=) c.3108A>G (p.Ter1036=) c.3858A>G (p.Ter1286=) c.3864A>G (p.Ter1288=) | |
| 8 | g.115414023T>G | CA372061752 | TRPS1 | c.3885A>C (p.Ter1295Tyr) c.3846A>C (p.Ter1282Tyr) c.3108A>C (p.Ter1036Tyr) c.3858A>C (p.Ter1286Tyr) c.3864A>C (p.Ter1288Tyr) | |
| 8 | g.115414023T= | CA1812853498 | TRPS1 | c.3885A= (p.Ter1295=) c.3846A= (p.Ter1282=) c.3108A= (p.Ter1036=) c.3858A= (p.Ter1286=) c.3864A= (p.Ter1288=) | |
| 8 | g.115414024T>A | CA372061753 | TRPS1 | c.3884A>T (p.Ter1295Leu) c.3845A>T (p.Ter1282Leu) c.3107A>T (p.Ter1036Leu) c.3857A>T (p.Ter1286Leu) c.3863A>T (p.Ter1288Leu) | |
| 8 | g.115414024T>C | CA184469209 | TRPS1 | c.3884A>G (p.Ter1295=) c.3845A>G (p.Ter1282=) c.3107A>G (p.Ter1036=) c.3857A>G (p.Ter1286=) c.3863A>G (p.Ter1288=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414024T>G | CA372061754 | TRPS1 | c.3884A>C (p.Ter1295Ser) c.3845A>C (p.Ter1282Ser) c.3107A>C (p.Ter1036Ser) c.3857A>C (p.Ter1286Ser) c.3863A>C (p.Ter1288Ser) | |
| 8 | g.115414024T= | CA1812853500 | TRPS1 | c.3884A= (p.Ter1295=) c.3845A= (p.Ter1282=) c.3107A= (p.Ter1036=) c.3857A= (p.Ter1286=) c.3863A= (p.Ter1288=) | |
| 8 | g.115414024_115414025dup | CA918347284 | TRPS1 | c.3883_3884dup (p.Ter1295TyrextTer11) c.3844_3845dup (p.Ter1282TyrextTer11) c.3106_3107dup (p.Ter1036TyrextTer11) c.3856_3857dup (p.Ter1286TyrextTer11) c.3862_3863dup (p.Ter1288TyrextTer11) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115414025A>C | CA372061755 | TRPS1 | c.3883T>G (p.Ter1295Glu) c.3844T>G (p.Ter1282Glu) c.3106T>G (p.Ter1036Glu) c.3856T>G (p.Ter1286Glu) c.3862T>G (p.Ter1288Glu) | |
| 8 | g.115414025A>G | CA372061756 | TRPS1 | c.3883T>C (p.Ter1295Gln) c.3844T>C (p.Ter1282Gln) c.3106T>C (p.Ter1036Gln) c.3856T>C (p.Ter1286Gln) c.3862T>C (p.Ter1288Gln) | |
| 8 | g.115414025A>T | CA372061757 | TRPS1 | c.3883T>A (p.Ter1295Lys) c.3844T>A (p.Ter1282Lys) c.3106T>A (p.Ter1036Lys) c.3856T>A (p.Ter1286Lys) c.3862T>A (p.Ter1288Lys) | |
| 8 | g.115414026C>A | CA372061758 | TRPS1 | c.3882G>T (p.Glu1294Asp) c.3843G>T (p.Glu1281Asp) c.3105G>T (p.Glu1035Asp) c.3855G>T (p.Glu1285Asp) c.3861G>T (p.Glu1287Asp) | |
| 8 | g.115414026C>G | CA372061759 | TRPS1 | c.3882G>C (p.Glu1294Asp) c.3843G>C (p.Glu1281Asp) c.3105G>C (p.Glu1035Asp) c.3855G>C (p.Glu1285Asp) c.3861G>C (p.Glu1287Asp) | |
| 8 | g.115414026C>T | CA462657845 | TRPS1 | c.3882G>A (p.Glu1294=) c.3843G>A (p.Glu1281=) c.3105G>A (p.Glu1035=) c.3855G>A (p.Glu1285=) c.3861G>A (p.Glu1287=) | gnomAD v4 |
| 8 | g.115414027T>A | CA372061761 | TRPS1 | c.3881A>T (p.Glu1294Val) c.3842A>T (p.Glu1281Val) c.3104A>T (p.Glu1035Val) c.3854A>T (p.Glu1285Val) c.3860A>T (p.Glu1287Val) | |
| 8 | g.115414027T>C | CA372061762 | TRPS1 | c.3881A>G (p.Glu1294Gly) c.3842A>G (p.Glu1281Gly) c.3104A>G (p.Glu1035Gly) c.3854A>G (p.Glu1285Gly) c.3860A>G (p.Glu1287Gly) | dbSNP gnomAD v4 |
| 8 | g.115414027T>G | CA372061760 | TRPS1 | c.3881A>C (p.Glu1294Ala) c.3842A>C (p.Glu1281Ala) c.3104A>C (p.Glu1035Ala) c.3854A>C (p.Glu1285Ala) c.3860A>C (p.Glu1287Ala) | |
| 8 | g.115414027T= | CA1812853504 | TRPS1 | c.3881A= (p.Glu1294=) c.3842A= (p.Glu1281=) c.3104A= (p.Glu1035=) c.3854A= (p.Glu1285=) c.3860A= (p.Glu1287=) | |
| 8 | g.115414028C>A | CA372061764 | TRPS1 | c.3880G>T (p.Glu1294Ter) c.3841G>T (p.Glu1281Ter) c.3103G>T (p.Glu1035Ter) c.3853G>T (p.Glu1285Ter) c.3859G>T (p.Glu1287Ter) | |
| 8 | g.115414028C= | CA1812853507 | TRPS1 | c.3880G= (p.Glu1294=) c.3841G= (p.Glu1281=) c.3103G= (p.Glu1035=) c.3853G= (p.Glu1285=) c.3859G= (p.Glu1287=) | |
| 8 | g.115414028C>G | CA372061763 | TRPS1 | c.3880G>C (p.Glu1294Gln) c.3841G>C (p.Glu1281Gln) c.3103G>C (p.Glu1035Gln) c.3853G>C (p.Glu1285Gln) c.3859G>C (p.Glu1287Gln) | gnomAD v4 |
| 8 | g.115414028C>T | CA372061765 | TRPS1 | c.3880G>A (p.Glu1294Lys) c.3841G>A (p.Glu1281Lys) c.3103G>A (p.Glu1035Lys) c.3853G>A (p.Glu1285Lys) c.3859G>A (p.Glu1287Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115414029T>A | CA372061766 | TRPS1 | c.3879A>T (p.Lys1293Asn) c.3840A>T (p.Lys1280Asn) c.3102A>T (p.Lys1034Asn) c.3852A>T (p.Lys1284Asn) c.3858A>T (p.Lys1286Asn) | |
| 8 | g.115414029T>C | CA462657847 | TRPS1 | c.3879A>G (p.Lys1293=) c.3840A>G (p.Lys1280=) c.3102A>G (p.Lys1034=) c.3852A>G (p.Lys1284=) c.3858A>G (p.Lys1286=) | |
| 8 | g.115414029T>G | CA372061767 | TRPS1 | c.3879A>C (p.Lys1293Asn) c.3840A>C (p.Lys1280Asn) c.3102A>C (p.Lys1034Asn) c.3852A>C (p.Lys1284Asn) c.3858A>C (p.Lys1286Asn) | |
| 8 | g.115414030_115414031del | CA2688302499 | TRPS1 | c.3878_3879del (p.Lys1293ArgfsTer5) c.3839_3840del (p.Lys1280ArgfsTer5) c.3101_3102del (p.Lys1034ArgfsTer5) c.3851_3852del (p.Lys1284ArgfsTer5) c.3857_3858del (p.Lys1286ArgfsTer5) | gnomAD v4 |
| 8 | g.115414030T>A | CA372061768 | TRPS1 | c.3878A>T (p.Lys1293Ile) c.3839A>T (p.Lys1280Ile) c.3101A>T (p.Lys1034Ile) c.3851A>T (p.Lys1284Ile) c.3857A>T (p.Lys1286Ile) | |
| 8 | g.115414030T>C | CA372061770 | TRPS1 | c.3878A>G (p.Lys1293Arg) c.3839A>G (p.Lys1280Arg) c.3101A>G (p.Lys1034Arg) c.3851A>G (p.Lys1284Arg) c.3857A>G (p.Lys1286Arg) | |
| 8 | g.115414030T>G | CA372061769 | TRPS1 | c.3878A>C (p.Lys1293Thr) c.3839A>C (p.Lys1280Thr) c.3101A>C (p.Lys1034Thr) c.3851A>C (p.Lys1284Thr) c.3857A>C (p.Lys1286Thr) | |
| 8 | g.115414031T>A | CA372061771 | TRPS1 | c.3877A>T (p.Lys1293Ter) c.3838A>T (p.Lys1280Ter) c.3100A>T (p.Lys1034Ter) c.3850A>T (p.Lys1284Ter) c.3856A>T (p.Lys1286Ter) | |
| 8 | g.115414031T>C | CA372061773 | TRPS1 | c.3877A>G (p.Lys1293Glu) c.3838A>G (p.Lys1280Glu) c.3100A>G (p.Lys1034Glu) c.3850A>G (p.Lys1284Glu) c.3856A>G (p.Lys1286Glu) | |
| 8 | g.115414031T>G | CA372061772 | TRPS1 | c.3877A>C (p.Lys1293Gln) c.3838A>C (p.Lys1280Gln) c.3100A>C (p.Lys1034Gln) c.3850A>C (p.Lys1284Gln) c.3856A>C (p.Lys1286Gln) | |
| 8 | g.115414032A>C | CA462657849 | TRPS1 | c.3876T>G (p.Pro1292=) c.3837T>G (p.Pro1279=) c.3099T>G (p.Pro1033=) c.3849T>G (p.Pro1283=) c.3855T>G (p.Pro1285=) | |
| 8 | g.115414032A>G | CA462657850 | TRPS1 | c.3876T>C (p.Pro1292=) c.3837T>C (p.Pro1279=) c.3099T>C (p.Pro1033=) c.3849T>C (p.Pro1283=) c.3855T>C (p.Pro1285=) | gnomAD v4 |
| 8 | g.115414032A>T | CA462657851 | TRPS1 | c.3876T>A (p.Pro1292=) c.3837T>A (p.Pro1279=) c.3099T>A (p.Pro1033=) c.3849T>A (p.Pro1283=) c.3855T>A (p.Pro1285=) | |
| 8 | g.115414033G>A | CA372061774 | TRPS1 | c.3875C>T (p.Pro1292Leu) c.3836C>T (p.Pro1279Leu) c.3098C>T (p.Pro1033Leu) c.3848C>T (p.Pro1283Leu) c.3854C>T (p.Pro1285Leu) | gnomAD v4 |
| 8 | g.115414033G>C | CA372061776 | TRPS1 | c.3875C>G (p.Pro1292Arg) c.3836C>G (p.Pro1279Arg) c.3098C>G (p.Pro1033Arg) c.3848C>G (p.Pro1283Arg) c.3854C>G (p.Pro1285Arg) | dbSNP gnomAD v4 |
| 8 | g.115414033G= | CA1812853510 | TRPS1 | c.3875C= (p.Pro1292=) c.3836C= (p.Pro1279=) c.3098C= (p.Pro1033=) c.3848C= (p.Pro1283=) c.3854C= (p.Pro1285=) | |
| 8 | g.115414033G>T | CA372061775 | TRPS1 | c.3875C>A (p.Pro1292His) c.3836C>A (p.Pro1279His) c.3098C>A (p.Pro1033His) c.3848C>A (p.Pro1283His) c.3854C>A (p.Pro1285His) | COSMIC COSMIC |
| 8 | g.115414034G>A | CA372061777 | TRPS1 | c.3874C>T (p.Pro1292Ser) c.3835C>T (p.Pro1279Ser) c.3097C>T (p.Pro1033Ser) c.3847C>T (p.Pro1283Ser) c.3853C>T (p.Pro1285Ser) | gnomAD v4 |
| 8 | g.115414034G>C | CA372061779 | TRPS1 | c.3874C>G (p.Pro1292Ala) c.3835C>G (p.Pro1279Ala) c.3097C>G (p.Pro1033Ala) c.3847C>G (p.Pro1283Ala) c.3853C>G (p.Pro1285Ala) | |
| 8 | g.115414034G>T | CA372061778 | TRPS1 | c.3874C>A (p.Pro1292Thr) c.3835C>A (p.Pro1279Thr) c.3097C>A (p.Pro1033Thr) c.3847C>A (p.Pro1283Thr) c.3853C>A (p.Pro1285Thr) | |
| 8 | g.115414035T>A | CA372061780 | TRPS1 | c.3873A>T (p.Lys1291Asn) c.3834A>T (p.Lys1278Asn) c.3096A>T (p.Lys1032Asn) c.3846A>T (p.Lys1282Asn) c.3852A>T (p.Lys1284Asn) | |
| 8 | g.115414035T>C | CA462657855 | TRPS1 | c.3873A>G (p.Lys1291=) c.3834A>G (p.Lys1278=) c.3096A>G (p.Lys1032=) c.3846A>G (p.Lys1282=) c.3852A>G (p.Lys1284=) | COSMIC COSMIC |
| 8 | g.115414035T>G | CA372061781 | TRPS1 | c.3873A>C (p.Lys1291Asn) c.3834A>C (p.Lys1278Asn) c.3096A>C (p.Lys1032Asn) c.3846A>C (p.Lys1282Asn) c.3852A>C (p.Lys1284Asn) | |
| 8 | g.115414036T>A | CA372061782 | TRPS1 | c.3872A>T (p.Lys1291Ile) c.3833A>T (p.Lys1278Ile) c.3095A>T (p.Lys1032Ile) c.3845A>T (p.Lys1282Ile) c.3851A>T (p.Lys1284Ile) | |
| 8 | g.115414036T>C | CA372061783 | TRPS1 | c.3872A>G (p.Lys1291Arg) c.3833A>G (p.Lys1278Arg) c.3095A>G (p.Lys1032Arg) c.3845A>G (p.Lys1282Arg) c.3851A>G (p.Lys1284Arg) | gnomAD v4 |
| 8 | g.115414036T>G | CA372061784 | TRPS1 | c.3872A>C (p.Lys1291Thr) c.3833A>C (p.Lys1278Thr) c.3095A>C (p.Lys1032Thr) c.3845A>C (p.Lys1282Thr) c.3851A>C (p.Lys1284Thr) | |
| 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) |