| 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.115414024del | CA2579259386 | TRPS1 | c.*2del (n.*2del) | |
| 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) |