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.115413932T>A | CA2688302470 | TRPS1 | c.*91A>T (n.*91A>T) | gnomAD v4 |
| 8 | g.115413932T>C | CA1118165707 | TRPS1 | c.*91A>G (n.*91A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413932T= | CA1812853431 | TRPS1 | c.*91A= (n.*91A=) | |
| 8 | g.115413938dup | CA846012925 | TRPS1 | c.*91dup (n.*91dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413937_115413938dup | CA2579259377 | TRPS1 | c.*90_*91dup (n.*90_*91dup) | |
| 8 | g.115413938del | CA2603770460 | TRPS1 | c.*91del (n.*91del) | gnomAD v3 gnomAD v4 |
| 8 | g.115413934T>A | CA2688302471 | TRPS1 | c.*89A>T (n.*89A>T) | gnomAD v4 |
| 8 | g.115413934T>G | CA184469160 | TRPS1 | c.*89A>C (n.*89A>C) | dbSNP gnomAD v3 |
| 8 | g.115413934T= | CA1812853433 | TRPS1 | c.*89A= (n.*89A=) | |
| 8 | g.115413935T>C | CA2688302472 | TRPS1 | c.*88A>G (n.*88A>G) | gnomAD v4 |
| 8 | g.115413937T>G | CA2579259378 | TRPS1 | c.*86A>C (n.*86A>C) | gnomAD v4 |
| 8 | g.115413938T>A | CA184469163 | TRPS1 | c.*85A>T (n.*85A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413938T>C | CA1118165708 | TRPS1 | c.*85A>G (n.*85A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413938T= | CA1812853436 | TRPS1 | c.*85A= (n.*85A=) | |
| 8 | g.115413939A= | CA1812853438 | TRPS1 | c.*84T= (n.*84T=) | |
| 8 | g.115413939A>C | CA2688302473 | TRPS1 | c.*84T>G (n.*84T>G) | gnomAD v4 |
| 8 | g.115413939A>T | CA184469178 | TRPS1 | c.*84T>A (n.*84T>A) | dbSNP gnomAD v4 |
| 8 | g.115413940del | CA2579259379 | TRPS1 | c.*84del (n.*84del) | gnomAD v4 |
| 8 | g.115413940A>T | CA2688302474 | TRPS1 | c.*83T>A (n.*83T>A) | gnomAD v4 |
| 8 | g.115413941T>C | CA2688302475 | TRPS1 | c.*82A>G (n.*82A>G) | gnomAD v4 |
| 8 | g.115413942A>T | CA2688302476 | TRPS1 | c.*81T>A (n.*81T>A) | gnomAD v4 |
| 8 | g.115413943G>T | CA2579259380 | TRPS1 | c.*80C>A (n.*80C>A) | gnomAD v4 |
| 8 | g.115413944G>T | CA2688302477 | TRPS1 | c.*79C>A (n.*79C>A) | gnomAD v4 |
| 8 | g.115413945T>C | CA2688302478 | TRPS1 | c.*78A>G (n.*78A>G) | gnomAD v4 |
| 8 | g.115413946C>A | CA2688302479 | TRPS1 | c.*77G>T (n.*77G>T) | gnomAD v4 |
| 8 | g.115413946C= | CA1812853440 | TRPS1 | c.*77G= (n.*77G=) | |
| 8 | g.115413946C>T | CA846012939 | TRPS1 | c.*77G>A (n.*77G>A) | dbSNP gnomAD v4 |
| 8 | g.115413950A= | CA1812853443 | TRPS1 | c.*73T= (n.*73T=) | |
| 8 | g.115413950A>C | CA2580835362 | TRPS1 | c.*73T>G (n.*73T>G) | |
| 8 | g.115413950A>G | CA10624605 | TRPS1 | c.*73T>C (n.*73T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413950A>T | CA2580835361 | TRPS1 | c.*73T>A (n.*73T>A) | |
| 8 | g.115413951T>A | CA2569219534 | TRPS1 | c.*72A>T (n.*72A>T) | |
| 8 | g.115413951T>C | CA2579259381 | TRPS1 | c.*72A>G (n.*72A>G) | |
| 8 | g.115413951T>G | CA2688302480 | TRPS1 | c.*72A>C (n.*72A>C) | gnomAD v4 |
| 8 | g.115413951_115413952insC | CA652947522 | TRPS1 | c.*71_*72insG (n.*71_*72insG) | COSMIC |
| 8 | g.115413952A= | CA1812853447 | TRPS1 | c.*71T= (n.*71T=) | |
| 8 | g.115413952A>G | CA1118165713 | TRPS1 | c.*71T>C (n.*71T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.115413953del | CA2579259382 | TRPS1 | c.*71del (n.*71del) | gnomAD v4 |
| 8 | g.115413960A>T | CA2688302481 | TRPS1 | c.*63T>A (n.*63T>A) | gnomAD v4 |
| 8 | g.115413961C>A | CA2688302482 | TRPS1 | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 8 | g.115413961C= | CA1812853449 | TRPS1 | c.*62G= (n.*62G=) | |
| 8 | g.115413961C>T | CA584815762 | TRPS1 | c.*62G>A (n.*62G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413964G>C | CA584815763 | TRPS1 | c.*59C>G (n.*59C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115413964G= | CA1812853451 | TRPS1 | c.*59C= (n.*59C=) | |
| 8 | g.115413964G>T | CA652947524 | TRPS1 | c.*59C>A (n.*59C>A) | gnomAD v4 COSMIC |
| 8 | g.115413965C>A | CA2688302483 | TRPS1 | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 8 | g.115413965C>G | CA2688302484 | TRPS1 | c.*58G>C (n.*58G>C) | gnomAD v4 |
| 8 | g.115413965C>T | CA2718161044 | TRPS1 | c.*58G>A (n.*58G>A) | dbSNP |
| 8 | g.115413968T>C | CA652947526 | TRPS1 | c.*55A>G (n.*55A>G) | dbSNP COSMIC COSMIC |
| 8 | g.115413968T= | CA1812853452 | TRPS1 | c.*55A= (n.*55A=) | |
| 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=) |