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.96144565A>C | CA371749350 | GDF6 | c.1366T>G (p.Ter456Glu) c.*90T>G (n.*90T>G) c.*53T>G (n.*53T>G) c.967T>G (p.Ter323Glu) | |
| 8 | g.96144565A>G | CA371749351 | GDF6 | c.1366T>C (p.Ter456Gln) c.*90T>C (n.*90T>C) c.*53T>C (n.*53T>C) c.967T>C (p.Ter323Gln) | |
| 8 | g.96144565A>T | CA371749352 | GDF6 | c.1366T>A (p.Ter456Lys) c.*90T>A (n.*90T>A) c.*53T>A (n.*53T>A) c.967T>A (p.Ter323Lys) | |
| 8 | g.96144566C>A | CA4815332 | GDF6 | c.1365G>T (p.Arg455Ser) c.*89G>T (n.*89G>T) c.*52G>T (n.*52G>T) c.966G>T (p.Arg322Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144566C= | CA1804260464 | GDF6 | c.1365G= (p.Arg455=) c.*89G= (n.*89G=) c.*52G= (n.*52G=) c.966G= (p.Arg322=) | |
| 8 | g.96144566C>G | CA371749353 | GDF6 | c.1365G>C (p.Arg455Ser) c.*89G>C (n.*89G>C) c.*52G>C (n.*52G>C) c.966G>C (p.Arg322Ser) | |
| 8 | g.96144566C>T | CA4815333 | GDF6 | c.1365G>A (p.Arg455=) c.*89G>A (n.*89G>A) c.*52G>A (n.*52G>A) c.966G>A (p.Arg322=) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.96144567C>A | CA371749354 | GDF6 | c.1364G>T (p.Arg455Met) c.*88G>T (n.*88G>T) c.*51G>T (n.*51G>T) c.965G>T (p.Arg322Met) | |
| 8 | g.96144567C= | CA1804260469 | GDF6 | c.1364G= (p.Arg455=) c.*88G= (n.*88G=) c.*51G= (n.*51G=) c.965G= (p.Arg322=) | |
| 8 | g.96144567C>G | CA371749355 | GDF6 | c.1364G>C (p.Arg455Thr) c.*88G>C (n.*88G>C) c.*51G>C (n.*51G>C) c.965G>C (p.Arg322Thr) | |
| 8 | g.96144567C>T | CA4815334 | GDF6 | c.1364G>A (p.Arg455Lys) c.*88G>A (n.*88G>A) c.*51G>A (n.*51G>A) c.965G>A (p.Arg322Lys) | dbSNP ExAC gnomAD v2 |
| 8 | g.96144568T>A | CA371749357 | GDF6 | c.1363A>T (p.Arg455Trp) c.*87A>T (n.*87A>T) c.*50A>T (n.*50A>T) c.964A>T (p.Arg322Trp) | |
| 8 | g.96144568T>C | CA371749356 | GDF6 | c.1363A>G (p.Arg455Gly) c.*87A>G (n.*87A>G) c.*50A>G (n.*50A>G) c.964A>G (p.Arg322Gly) | |
| 8 | g.96144568T>G | CA462454332 | GDF6 | c.1363A>C (p.Arg455=) c.*87A>C (n.*87A>C) c.*50A>C (n.*50A>C) c.964A>C (p.Arg322=) | |
| 8 | g.96144569G>A | CA462454333 | GDF6 | c.1362C>T (p.Cys454=) c.*86C>T (n.*86C>T) c.*49C>T (n.*49C>T) c.963C>T (p.Cys321=) | gnomAD v4 |
| 8 | g.96144569G>C | CA371749358 | GDF6 | c.1362C>G (p.Cys454Trp) c.*86C>G (n.*86C>G) c.*49C>G (n.*49C>G) c.963C>G (p.Cys321Trp) | |
| 8 | g.96144569G>T | CA371749359 | GDF6 | c.1362C>A (p.Cys454Ter) c.*86C>A (n.*86C>A) c.*49C>A (n.*49C>A) c.963C>A (p.Cys321Ter) | |
| 8 | g.96144570C>A | CA371749360 | GDF6 | c.1361G>T (p.Cys454Phe) c.*85G>T (n.*85G>T) c.*48G>T (n.*48G>T) c.962G>T (p.Cys321Phe) | |
| 8 | g.96144570C>G | CA371749361 | GDF6 | c.1361G>C (p.Cys454Ser) c.*85G>C (n.*85G>C) c.*48G>C (n.*48G>C) c.962G>C (p.Cys321Ser) | |
| 8 | g.96144570C>T | CA371749362 | GDF6 | c.1361G>A (p.Cys454Tyr) c.*85G>A (n.*85G>A) c.*48G>A (n.*48G>A) c.962G>A (p.Cys321Tyr) | |
| 8 | g.96144571A>C | CA371749363 | GDF6 | c.1360T>G (p.Cys454Gly) c.*84T>G (n.*84T>G) c.*47T>G (n.*47T>G) c.961T>G (p.Cys321Gly) | |
| 8 | g.96144571A>G | CA371749364 | GDF6 | c.1360T>C (p.Cys454Arg) c.*84T>C (n.*84T>C) c.*47T>C (n.*47T>C) c.961T>C (p.Cys321Arg) | |
| 8 | g.96144571A>T | CA371749365 | GDF6 | c.1360T>A (p.Cys454Ser) c.*84T>A (n.*84T>A) c.*47T>A (n.*47T>A) c.961T>A (p.Cys321Ser) | |
| 8 | g.96144572G>A | CA462454631 | GDF6 | c.1359C>T (p.Gly453=) c.*83C>T (n.*83C>T) c.*46C>T (n.*46C>T) c.960C>T (p.Gly320=) | |
| 8 | g.96144572G>C | CA462454634 | GDF6 | c.1359C>G (p.Gly453=) c.*83C>G (n.*83C>G) c.*46C>G (n.*46C>G) c.960C>G (p.Gly320=) | |
| 8 | g.96144572G>T | CA462454635 | GDF6 | c.1359C>A (p.Gly453=) c.*83C>A (n.*83C>A) c.*46C>A (n.*46C>A) c.960C>A (p.Gly320=) | |
| 8 | g.96144573C>A | CA371749366 | GDF6 | c.1358G>T (p.Gly453Val) c.*82G>T (n.*82G>T) c.*45G>T (n.*45G>T) c.959G>T (p.Gly320Val) | |
| 8 | g.96144573C>G | CA371749367 | GDF6 | c.1358G>C (p.Gly453Ala) c.*82G>C (n.*82G>C) c.*45G>C (n.*45G>C) c.959G>C (p.Gly320Ala) | |
| 8 | g.96144573C>T | CA371749368 | GDF6 | c.1358G>A (p.Gly453Asp) c.*82G>A (n.*82G>A) c.*45G>A (n.*45G>A) c.959G>A (p.Gly320Asp) | |
| 8 | g.96144574C>A | CA371749371 | GDF6 | c.1357G>T (p.Gly453Cys) c.*81G>T (n.*81G>T) c.*44G>T (n.*44G>T) c.958G>T (p.Gly320Cys) | |
| 8 | g.96144574C= | CA1804260475 | GDF6 | c.1357G= (p.Gly453=) c.*81G= (n.*81G=) c.*44G= (n.*44G=) c.958G= (p.Gly320=) | |
| 8 | g.96144574C>G | CA371749369 | GDF6 | c.1357G>C (p.Gly453Arg) c.*81G>C (n.*81G>C) c.*44G>C (n.*44G>C) c.958G>C (p.Gly320Arg) | |
| 8 | g.96144574C>T | CA371749370 | GDF6 | c.1357G>A (p.Gly453Ser) c.*81G>A (n.*81G>A) c.*44G>A (n.*44G>A) c.958G>A (p.Gly320Ser) | ClinVar dbSNP |
| 8 | g.96144575G>A | CA4815335 | GDF6 | c.1356C>T (p.Cys452=) c.*80C>T (n.*80C>T) c.*43C>T (n.*43C>T) c.957C>T (p.Cys319=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.96144575G>C | CA371749372 | GDF6 | c.1356C>G (p.Cys452Trp) c.*80C>G (n.*80C>G) c.*43C>G (n.*43C>G) c.957C>G (p.Cys319Trp) | gnomAD v4 |
| 8 | g.96144575G= | CA1804260483 | GDF6 | c.1356C= (p.Cys452=) c.*80C= (n.*80C=) c.*43C= (n.*43C=) c.957C= (p.Cys319=) | |
| 8 | g.96144575G>T | CA371749373 | GDF6 | c.1356C>A (p.Cys452Ter) c.*80C>A (n.*80C>A) c.*43C>A (n.*43C>A) c.957C>A (p.Cys319Ter) | gnomAD v4 |
| 8 | g.96144576C>A | CA371749374 | GDF6 | c.1355G>T (p.Cys452Phe) c.*79G>T (n.*79G>T) c.*42G>T (n.*42G>T) c.956G>T (p.Cys319Phe) | |
| 8 | g.96144576C>G | CA371749375 | GDF6 | c.1355G>C (p.Cys452Ser) c.*79G>C (n.*79G>C) c.*42G>C (n.*42G>C) c.956G>C (p.Cys319Ser) | |
| 8 | g.96144576C>T | CA371749376 | GDF6 | c.1355G>A (p.Cys452Tyr) c.*79G>A (n.*79G>A) c.*42G>A (n.*42G>A) c.956G>A (p.Cys319Tyr) | COSMIC |
| 8 | g.96144577A>C | CA371749377 | GDF6 | c.1354T>G (p.Cys452Gly) c.*78T>G (n.*78T>G) c.*41T>G (n.*41T>G) c.955T>G (p.Cys319Gly) | |
| 8 | g.96144577A>G | CA371749378 | GDF6 | c.1354T>C (p.Cys452Arg) c.*78T>C (n.*78T>C) c.*41T>C (n.*41T>C) c.955T>C (p.Cys319Arg) | |
| 8 | g.96144577A>T | CA371749379 | GDF6 | c.1354T>A (p.Cys452Ser) c.*78T>A (n.*78T>A) c.*41T>A (n.*41T>A) c.955T>A (p.Cys319Ser) | |
| 8 | g.96144578C>A | CA462454647 | GDF6 | c.1353G>T (p.Ser451=) c.*77G>T (n.*77G>T) c.*40G>T (n.*40G>T) c.954G>T (p.Ser318=) | COSMIC |
| 8 | g.96144578C= | CA1804260493 | GDF6 | c.1353G= (p.Ser451=) c.*77G= (n.*77G=) c.*40G= (n.*40G=) c.954G= (p.Ser318=) | |
| 8 | g.96144578C>G | CA181485015 | GDF6 | c.1353G>C (p.Ser451=) c.*77G>C (n.*77G>C) c.*40G>C (n.*40G>C) c.954G>C (p.Ser318=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96144578C>T | CA462454649 | GDF6 | c.1353G>A (p.Ser451=) c.*77G>A (n.*77G>A) c.*40G>A (n.*40G>A) c.954G>A (p.Ser318=) | gnomAD v4 |
| 8 | g.96144579G>A | CA371749380 | GDF6 | c.1352C>T (p.Ser451Leu) c.*76C>T (n.*76C>T) c.*39C>T (n.*39C>T) c.953C>T (p.Ser318Leu) | gnomAD v4 |
| 8 | g.96144579G>C | CA371749381 | GDF6 | c.1352C>G (p.Ser451Trp) c.*76C>G (n.*76C>G) c.*39C>G (n.*39C>G) c.953C>G (p.Ser318Trp) | |
| 8 | g.96144579G>T | CA371749382 | GDF6 | c.1352C>A (p.Ser451Ter) c.*76C>A (n.*76C>A) c.*39C>A (n.*39C>A) c.953C>A (p.Ser318Ter) | |
| 8 | g.96144580A= | CA1804260498 | GDF6 | c.1351T= (p.Ser451=) c.*75T= (n.*75T=) c.*38T= (n.*38T=) c.952T= (p.Ser318=) | |
| 8 | g.96144580A>C | CA371749384 | GDF6 | c.1351T>G (p.Ser451Ala) c.*75T>G (n.*75T>G) c.*38T>G (n.*38T>G) c.952T>G (p.Ser318Ala) | dbSNP gnomAD v4 |
| 8 | g.96144580A>G | CA371749385 | GDF6 | c.1351T>C (p.Ser451Pro) c.*75T>C (n.*75T>C) c.*38T>C (n.*38T>C) c.952T>C (p.Ser318Pro) | |
| 8 | g.96144580A>T | CA371749383 | GDF6 | c.1351T>A (p.Ser451Thr) c.*75T>A (n.*75T>A) c.*38T>A (n.*38T>A) c.952T>A (p.Ser318Thr) | |
| 8 | g.96144581C>A | CA371749386 | GDF6 | c.1350G>T (p.Glu450Asp) c.*74G>T (n.*74G>T) c.*37G>T (n.*37G>T) c.951G>T (p.Glu317Asp) | |
| 8 | g.96144581C>G | CA371749387 | GDF6 | c.1350G>C (p.Glu450Asp) c.*74G>C (n.*74G>C) c.*37G>C (n.*37G>C) c.951G>C (p.Glu317Asp) | |
| 8 | g.96144581C>T | CA462454663 | GDF6 | c.1350G>A (p.Glu450=) c.*74G>A (n.*74G>A) c.*37G>A (n.*37G>A) c.951G>A (p.Glu317=) | |
| 8 | g.96144582T>A | CA371749388 | GDF6 | c.1349A>T (p.Glu450Val) c.*73A>T (n.*73A>T) c.*36A>T (n.*36A>T) c.950A>T (p.Glu317Val) | dbSNP |
| 8 | g.96144582T>C | CA371749389 | GDF6 | c.1349A>G (p.Glu450Gly) c.*73A>G (n.*73A>G) c.*36A>G (n.*36A>G) c.950A>G (p.Glu317Gly) | |
| 8 | g.96144582T>G | CA371749390 | GDF6 | c.1349A>C (p.Glu450Ala) c.*73A>C (n.*73A>C) c.*36A>C (n.*36A>C) c.950A>C (p.Glu317Ala) | |
| 8 | g.96144582T= | CA1804260501 | GDF6 | c.1349A= (p.Glu450=) c.*73A= (n.*73A=) c.*36A= (n.*36A=) c.950A= (p.Glu317=) | |
| 8 | g.96144583C>A | CA371749391 | GDF6 | c.1348G>T (p.Glu450Ter) c.*72G>T (n.*72G>T) c.*35G>T (n.*35G>T) c.949G>T (p.Glu317Ter) | |
| 8 | g.96144583C= | CA1804260505 | GDF6 | c.1348G= (p.Glu450=) c.*72G= (n.*72G=) c.*35G= (n.*35G=) c.949G= (p.Glu317=) | |
| 8 | g.96144583C>G | CA371749392 | GDF6 | c.1348G>C (p.Glu450Gln) c.*72G>C (n.*72G>C) c.*35G>C (n.*35G>C) c.949G>C (p.Glu317Gln) | |
| 8 | g.96144583C>T | CA371749393 | GDF6 | c.1348G>A (p.Glu450Lys) c.*72G>A (n.*72G>A) c.*35G>A (n.*35G>A) c.949G>A (p.Glu317Lys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96144584C>A | CA462454670 | GDF6 | c.1347G>T (p.Val449=) c.*71G>T (n.*71G>T) c.*34G>T (n.*34G>T) c.948G>T (p.Val316=) | |
| 8 | g.96144584C= | CA1804260511 | GDF6 | c.1347G= (p.Val449=) c.*71G= (n.*71G=) c.*34G= (n.*34G=) c.948G= (p.Val316=) | |
| 8 | g.96144584C>G | CA462454671 | GDF6 | c.1347G>C (p.Val449=) c.*71G>C (n.*71G>C) c.*34G>C (n.*34G>C) c.948G>C (p.Val316=) | |
| 8 | g.96144584C>T | CA181485016 | GDF6 | c.1347G>A (p.Val449=) c.*71G>A (n.*71G>A) c.*34G>A (n.*34G>A) c.948G>A (p.Val316=) | ClinVar dbSNP |
| 8 | g.96144585A= | CA1804260517 | GDF6 | c.1346T= (p.Val449=) c.*70T= (n.*70T=) c.*33T= (n.*33T=) c.947T= (p.Val316=) | |
| 8 | g.96144585A>C | CA371749394 | GDF6 | c.1346T>G (p.Val449Gly) c.*70T>G (n.*70T>G) c.*33T>G (n.*33T>G) c.947T>G (p.Val316Gly) | |
| 8 | g.96144585A>G | CA371749395 | GDF6 | c.1346T>C (p.Val449Ala) c.*70T>C (n.*70T>C) c.*33T>C (n.*33T>C) c.947T>C (p.Val316Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.96144585A>T | CA371749396 | GDF6 | c.1346T>A (p.Val449Glu) c.*70T>A (n.*70T>A) c.*33T>A (n.*33T>A) c.947T>A (p.Val316Glu) | |
| 8 | g.96144586C>A | CA371749397 | GDF6 | c.1345G>T (p.Val449Leu) c.*69G>T (n.*69G>T) c.*32G>T (n.*32G>T) c.946G>T (p.Val316Leu) | |
| 8 | g.96144586C>G | CA371749398 | GDF6 | c.1345G>C (p.Val449Leu) c.*69G>C (n.*69G>C) c.*32G>C (n.*32G>C) c.946G>C (p.Val316Leu) | |
| 8 | g.96144586C>T | CA371749399 | GDF6 | c.1345G>A (p.Val449Met) c.*69G>A (n.*69G>A) c.*32G>A (n.*32G>A) c.946G>A (p.Val316Met) | |
| 8 | g.96144587C>A | CA462454679 | GDF6 | c.1344G>T (p.Val448=) c.*68G>T (n.*68G>T) c.*31G>T (n.*31G>T) c.945G>T (p.Val315=) | |
| 8 | g.96144587C= | CA1804260524 | GDF6 | c.1344G= (p.Val448=) c.*68G= (n.*68G=) c.*31G= (n.*31G=) c.945G= (p.Val315=) | |
| 8 | g.96144587C>G | CA462454681 | GDF6 | c.1344G>C (p.Val448=) c.*68G>C (n.*68G>C) c.*31G>C (n.*31G>C) c.945G>C (p.Val315=) | |
| 8 | g.96144587C>T | CA4815336 | GDF6 | c.1344G>A (p.Val448=) c.*68G>A (n.*68G>A) c.*31G>A (n.*31G>A) c.945G>A (p.Val315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144588A>C | CA371749400 | GDF6 | c.1343T>G (p.Val448Gly) c.*67T>G (n.*67T>G) c.*30T>G (n.*30T>G) c.944T>G (p.Val315Gly) | |
| 8 | g.96144588A>G | CA371749401 | GDF6 | c.1343T>C (p.Val448Ala) c.*67T>C (n.*67T>C) c.*30T>C (n.*30T>C) c.944T>C (p.Val315Ala) | |
| 8 | g.96144588A>T | CA371749402 | GDF6 | c.1343T>A (p.Val448Glu) c.*67T>A (n.*67T>A) c.*30T>A (n.*30T>A) c.944T>A (p.Val315Glu) | |
| 8 | g.96144589C>A | CA371749403 | GDF6 | c.1342G>T (p.Val448Leu) c.*66G>T (n.*66G>T) c.*29G>T (n.*29G>T) c.943G>T (p.Val315Leu) | |
| 8 | g.96144589C= | CA1804260530 | GDF6 | c.1342G= (p.Val448=) c.*66G= (n.*66G=) c.*29G= (n.*29G=) c.943G= (p.Val315=) | |
| 8 | g.96144589C>G | CA371749404 | GDF6 | c.1342G>C (p.Val448Leu) c.*66G>C (n.*66G>C) c.*29G>C (n.*29G>C) c.943G>C (p.Val315Leu) | |
| 8 | g.96144589C>T | CA371749405 | GDF6 | c.1342G>A (p.Val448Met) c.*66G>A (n.*66G>A) c.*29G>A (n.*29G>A) c.943G>A (p.Val315Met) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96144590C>A | CA371749406 | GDF6 | c.1341G>T (p.Met447Ile) c.*65G>T (n.*65G>T) c.*28G>T (n.*28G>T) c.942G>T (p.Met314Ile) | |
| 8 | g.96144590C>G | CA371749407 | GDF6 | c.1341G>C (p.Met447Ile) c.*65G>C (n.*65G>C) c.*28G>C (n.*28G>C) c.942G>C (p.Met314Ile) | |
| 8 | g.96144590C>T | CA371749408 | GDF6 | c.1341G>A (p.Met447Ile) c.*65G>A (n.*65G>A) c.*28G>A (n.*28G>A) c.942G>A (p.Met314Ile) | gnomAD v4 |
| 8 | g.96144591A>C | CA371749409 | GDF6 | c.1340T>G (p.Met447Arg) c.*64T>G (n.*64T>G) c.*27T>G (n.*27T>G) c.941T>G (p.Met314Arg) | |
| 8 | g.96144591A>G | CA371749410 | GDF6 | c.1340T>C (p.Met447Thr) c.*64T>C (n.*64T>C) c.*27T>C (n.*27T>C) c.941T>C (p.Met314Thr) | |
| 8 | g.96144591A>T | CA371749411 | GDF6 | c.1340T>A (p.Met447Lys) c.*64T>A (n.*64T>A) c.*27T>A (n.*27T>A) c.941T>A (p.Met314Lys) | |
| 8 | g.96144592T>A | CA371749412 | GDF6 | c.1339A>T (p.Met447Leu) c.*63A>T (n.*63A>T) c.*26A>T (n.*26A>T) c.940A>T (p.Met314Leu) | |
| 8 | g.96144592T>C | CA371749413 | GDF6 | c.1339A>G (p.Met447Val) c.*63A>G (n.*63A>G) c.*26A>G (n.*26A>G) c.940A>G (p.Met314Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144592T>G | CA371749414 | GDF6 | c.1339A>C (p.Met447Leu) c.*63A>C (n.*63A>C) c.*26A>C (n.*26A>C) c.940A>C (p.Met314Leu) | |
| 8 | g.96144592T= | CA1804260536 | GDF6 | c.1339A= (p.Met447=) c.*63A= (n.*63A=) c.*26A= (n.*26A=) c.940A= (p.Met314=) | |
| 8 | g.96144593G>A | CA462454703 | GDF6 | c.1338C>T (p.Asp446=) c.*62C>T (n.*62C>T) c.*25C>T (n.*25C>T) c.939C>T (p.Asp313=) | |
| 8 | g.96144593G>C | CA371749415 | GDF6 | c.1338C>G (p.Asp446Glu) c.*62C>G (n.*62C>G) c.*25C>G (n.*25C>G) c.939C>G (p.Asp313Glu) | |
| 8 | g.96144593G>T | CA371749416 | GDF6 | c.1338C>A (p.Asp446Glu) c.*62C>A (n.*62C>A) c.*25C>A (n.*25C>A) c.939C>A (p.Asp313Glu) | |
| 8 | g.96144594T>A | CA371749417 | GDF6 | c.1337A>T (p.Asp446Val) c.*61A>T (n.*61A>T) c.*24A>T (n.*24A>T) c.938A>T (p.Asp313Val) | |
| 8 | g.96144594T>C | CA371749419 | GDF6 | c.1337A>G (p.Asp446Gly) c.*61A>G (n.*61A>G) c.*24A>G (n.*24A>G) c.938A>G (p.Asp313Gly) | |
| 8 | g.96144594T>G | CA371749418 | GDF6 | c.1337A>C (p.Asp446Ala) c.*61A>C (n.*61A>C) c.*24A>C (n.*24A>C) c.938A>C (p.Asp313Ala) | |
| 8 | g.96144595C>A | CA371749420 | GDF6 | c.1336G>T (p.Asp446Tyr) c.*60G>T (n.*60G>T) c.*23G>T (n.*23G>T) c.937G>T (p.Asp313Tyr) | |
| 8 | g.96144595C>G | CA371749422 | GDF6 | c.1336G>C (p.Asp446His) c.*60G>C (n.*60G>C) c.*23G>C (n.*23G>C) c.937G>C (p.Asp313His) | |
| 8 | g.96144595C>T | CA371749421 | GDF6 | c.1336G>A (p.Asp446Asn) c.*60G>A (n.*60G>A) c.*23G>A (n.*23G>A) c.937G>A (p.Asp313Asn) | |
| 8 | g.96144596C>A | CA371749423 | GDF6 | c.1335G>T (p.Glu445Asp) c.*59G>T (n.*59G>T) c.*22G>T (n.*22G>T) c.936G>T (p.Glu312Asp) | |
| 8 | g.96144596C= | CA1804260545 | GDF6 | c.1335G= (p.Glu445=) c.*59G= (n.*59G=) c.*22G= (n.*22G=) c.936G= (p.Glu312=) | |
| 8 | g.96144596C>G | CA371749424 | GDF6 | c.1335G>C (p.Glu445Asp) c.*59G>C (n.*59G>C) c.*22G>C (n.*22G>C) c.936G>C (p.Glu312Asp) | |
| 8 | g.96144596C>T | CA4815337 | GDF6 | c.1335G>A (p.Glu445=) c.*59G>A (n.*59G>A) c.*22G>A (n.*22G>A) c.936G>A (p.Glu312=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.96144597T>A | CA371749425 | GDF6 | c.1334A>T (p.Glu445Val) c.*58A>T (n.*58A>T) c.*21A>T (n.*21A>T) c.935A>T (p.Glu312Val) | |
| 8 | g.96144597T>C | CA371749426 | GDF6 | c.1334A>G (p.Glu445Gly) c.*58A>G (n.*58A>G) c.*21A>G (n.*21A>G) c.935A>G (p.Glu312Gly) | gnomAD v4 |
| 8 | g.96144597T>G | CA371749427 | GDF6 | c.1334A>C (p.Glu445Ala) c.*58A>C (n.*58A>C) c.*21A>C (n.*21A>C) c.935A>C (p.Glu312Ala) | |
| 8 | g.96144598C>A | CA371749428 | GDF6 | c.1333G>T (p.Glu445Ter) c.*57G>T (n.*57G>T) c.*20G>T (n.*20G>T) c.934G>T (p.Glu312Ter) | gnomAD v4 |
| 8 | g.96144598C= | CA1804260550 | GDF6 | c.1333G= (p.Glu445=) c.*57G= (n.*57G=) c.*20G= (n.*20G=) c.934G= (p.Glu312=) | |
| 8 | g.96144598C>G | CA371749429 | GDF6 | c.1333G>C (p.Glu445Gln) c.*57G>C (n.*57G>C) c.*20G>C (n.*20G>C) c.934G>C (p.Glu312Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96144598C>T | CA371749430 | GDF6 | c.1333G>A (p.Glu445Lys) c.*57G>A (n.*57G>A) c.*20G>A (n.*20G>A) c.934G>A (p.Glu312Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.96144599G>A | CA462454709 | GDF6 | c.1332C>T (p.Tyr444=) c.*56C>T (n.*56C>T) c.*19C>T (n.*19C>T) c.933C>T (p.Tyr311=) | |
| 8 | g.96144599G>C | CA371749431 | GDF6 | c.1332C>G (p.Tyr444Ter) c.*56C>G (n.*56C>G) c.*19C>G (n.*19C>G) c.933C>G (p.Tyr311Ter) | gnomAD v4 |
| 8 | g.96144599G>T | CA371749432 | GDF6 | c.1332C>A (p.Tyr444Ter) c.*56C>A (n.*56C>A) c.*19C>A (n.*19C>A) c.933C>A (p.Tyr311Ter) | |
| 8 | g.96144600T>A | CA371749435 | GDF6 | c.1331A>T (p.Tyr444Phe) c.*55A>T (n.*55A>T) c.*18A>T (n.*18A>T) c.932A>T (p.Tyr311Phe) | |
| 8 | g.96144600T>C | CA371749433 | GDF6 | c.1331A>G (p.Tyr444Cys) c.*55A>G (n.*55A>G) c.*18A>G (n.*18A>G) c.932A>G (p.Tyr311Cys) | COSMIC |
| 8 | g.96144600T>G | CA371749434 | GDF6 | c.1331A>C (p.Tyr444Ser) c.*55A>C (n.*55A>C) c.*18A>C (n.*18A>C) c.932A>C (p.Tyr311Ser) | |
| 8 | g.96144601A= | CA1804260555 | GDF6 | c.1330T= (p.Tyr444=) c.*54T= (n.*54T=) c.*17T= (n.*17T=) c.931T= (p.Tyr311=) | |
| 8 | g.96144601A>C | CA371749436 | GDF6 | c.1330T>G (p.Tyr444Asp) c.*54T>G (n.*54T>G) c.*17T>G (n.*17T>G) c.931T>G (p.Tyr311Asp) | |
| 8 | g.96144601A>G | CA371749437 | GDF6 | c.1330T>C (p.Tyr444His) c.*54T>C (n.*54T>C) c.*17T>C (n.*17T>C) c.931T>C (p.Tyr311His) | |
| 8 | g.96144601A>T | CA371749438 | GDF6 | c.1330T>A (p.Tyr444Asn) c.*54T>A (n.*54T>A) c.*17T>A (n.*17T>A) c.931T>A (p.Tyr311Asn) | ClinVar dbSNP |
| 8 | g.96144602C>A | CA371749439 | GDF6 | c.1329G>T (p.Gln443His) c.*53G>T (n.*53G>T) c.*16G>T (n.*16G>T) c.930G>T (p.Gln310His) | |
| 8 | g.96144602C>G | CA371749440 | GDF6 | c.1329G>C (p.Gln443His) c.*53G>C (n.*53G>C) c.*16G>C (n.*16G>C) c.930G>C (p.Gln310His) | |
| 8 | g.96144602C>T | CA462454724 | GDF6 | c.1329G>A (p.Gln443=) c.*53G>A (n.*53G>A) c.*16G>A (n.*16G>A) c.930G>A (p.Gln310=) | |
| 8 | g.96144603T>A | CA371749441 | GDF6 | c.1328A>T (p.Gln443Leu) c.*52A>T (n.*52A>T) c.*15A>T (n.*15A>T) c.929A>T (p.Gln310Leu) | |
| 8 | g.96144603T>C | CA371749442 | GDF6 | c.1328A>G (p.Gln443Arg) c.*52A>G (n.*52A>G) c.*15A>G (n.*15A>G) c.929A>G (p.Gln310Arg) | |
| 8 | g.96144603T>G | CA371749443 | GDF6 | c.1328A>C (p.Gln443Pro) c.*52A>C (n.*52A>C) c.*15A>C (n.*15A>C) c.929A>C (p.Gln310Pro) | |
| 8 | g.96144604G>A | CA371749444 | GDF6 | c.1327C>T (p.Gln443Ter) c.*51C>T (n.*51C>T) c.*14C>T (n.*14C>T) c.928C>T (p.Gln310Ter) | |
| 8 | g.96144604G>C | CA371749445 | GDF6 | c.1327C>G (p.Gln443Glu) c.*51C>G (n.*51C>G) c.*14C>G (n.*14C>G) c.928C>G (p.Gln310Glu) | |
| 8 | g.96144604G= | CA1804260558 | GDF6 | c.1327C= (p.Gln443=) c.*51C= (n.*51C=) c.*14C= (n.*14C=) c.928C= (p.Gln310=) | |
| 8 | g.96144604G>T | CA181485017 | GDF6 | c.1327C>A (p.Gln443Lys) c.*51C>A (n.*51C>A) c.*14C>A (n.*14C>A) c.928C>A (p.Gln310Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144605C>A | CA371749447 | GDF6 | c.1326G>T (p.Lys442Asn) c.*50G>T (n.*50G>T) c.*13G>T (n.*13G>T) c.927G>T (p.Lys309Asn) | |
| 8 | g.96144605C>G | CA371749446 | GDF6 | c.1326G>C (p.Lys442Asn) c.*50G>C (n.*50G>C) c.*13G>C (n.*13G>C) c.927G>C (p.Lys309Asn) | |
| 8 | g.96144605C>T | CA462454732 | GDF6 | c.1326G>A (p.Lys442=) c.*50G>A (n.*50G>A) c.*13G>A (n.*13G>A) c.927G>A (p.Lys309=) | |
| 8 | g.96144606T>A | CA371749448 | GDF6 | c.1325A>T (p.Lys442Met) c.*49A>T (n.*49A>T) c.*12A>T (n.*12A>T) c.926A>T (p.Lys309Met) | |
| 8 | g.96144606T>C | CA371749449 | GDF6 | c.1325A>G (p.Lys442Arg) c.*49A>G (n.*49A>G) c.*12A>G (n.*12A>G) c.926A>G (p.Lys309Arg) | |
| 8 | g.96144606T>G | CA371749450 | GDF6 | c.1325A>C (p.Lys442Thr) c.*49A>C (n.*49A>C) c.*12A>C (n.*12A>C) c.926A>C (p.Lys309Thr) | |
| 8 | g.96144607T>A | CA371749451 | GDF6 | c.1324A>T (p.Lys442Ter) c.*48A>T (n.*48A>T) c.*11A>T (n.*11A>T) c.925A>T (p.Lys309Ter) | |
| 8 | g.96144607T>C | CA371749452 | GDF6 | c.1324A>G (p.Lys442Glu) c.*48A>G (n.*48A>G) c.*11A>G (n.*11A>G) c.925A>G (p.Lys309Glu) | |
| 8 | g.96144607T>G | CA371749453 | GDF6 | c.1324A>C (p.Lys442Gln) c.*48A>C (n.*48A>C) c.*11A>C (n.*11A>C) c.925A>C (p.Lys309Gln) | |
| 8 | g.96144608G>A | CA462454735 | GDF6 | c.1323C>T (p.Tyr441=) c.*47C>T (n.*47C>T) c.*10C>T (n.*10C>T) c.924C>T (p.Tyr308=) | |
| 8 | g.96144608G>C | CA371749455 | GDF6 | c.1323C>G (p.Tyr441Ter) c.*47C>G (n.*47C>G) c.*10C>G (n.*10C>G) c.924C>G (p.Tyr308Ter) | |
| 8 | g.96144608G>T | CA371749454 | GDF6 | c.1323C>A (p.Tyr441Ter) c.*47C>A (n.*47C>A) c.*10C>A (n.*10C>A) c.924C>A (p.Tyr308Ter) | |
| 8 | g.96144609T>A | CA371749456 | GDF6 | c.1322A>T (p.Tyr441Phe) c.*46A>T (n.*46A>T) c.*9A>T (n.*9A>T) c.923A>T (p.Tyr308Phe) | |
| 8 | g.96144609T>C | CA4815338 | GDF6 | c.1322A>G (p.Tyr441Cys) c.*46A>G (n.*46A>G) c.*9A>G (n.*9A>G) c.923A>G (p.Tyr308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144609T>G | CA371749457 | GDF6 | c.1322A>C (p.Tyr441Ser) c.*46A>C (n.*46A>C) c.*9A>C (n.*9A>C) c.923A>C (p.Tyr308Ser) | |
| 8 | g.96144609T= | CA1804260563 | GDF6 | c.1322A= (p.Tyr441=) c.*46A= (n.*46A=) c.*9A= (n.*9A=) c.923A= (p.Tyr308=) | |
| 8 | g.96144610A>C | CA371749458 | GDF6 | c.1321T>G (p.Tyr441Asp) c.*45T>G (n.*45T>G) c.*8T>G (n.*8T>G) c.922T>G (p.Tyr308Asp) | |
| 8 | g.96144610A>G | CA371749459 | GDF6 | c.1321T>C (p.Tyr441His) c.*45T>C (n.*45T>C) c.*8T>C (n.*8T>C) c.922T>C (p.Tyr308His) | |
| 8 | g.96144610A>T | CA371749460 | GDF6 | c.1321T>A (p.Tyr441Asn) c.*45T>A (n.*45T>A) c.*8T>A (n.*8T>A) c.922T>A (p.Tyr308Asn) | |
| 8 | g.96144611G>A | CA462454745 | GDF6 | c.1320C>T (p.Val440=) c.*44C>T (n.*44C>T) c.*7C>T (n.*7C>T) c.921C>T (p.Val307=) | gnomAD v4 |
| 8 | g.96144611G>C | CA462454743 | GDF6 | c.1320C>G (p.Val440=) c.*44C>G (n.*44C>G) c.*7C>G (n.*7C>G) c.921C>G (p.Val307=) | gnomAD v4 |
| 8 | g.96144611G>T | CA462454742 | GDF6 | c.1320C>A (p.Val440=) c.*44C>A (n.*44C>A) c.*7C>A (n.*7C>A) c.921C>A (p.Val307=) | |
| 8 | g.96144612A= | CA1804260567 | GDF6 | c.1319T= (p.Val440=) c.*43T= (n.*43T=) c.*6T= (n.*6T=) c.920T= (p.Val307=) | |
| 8 | g.96144612A>C | CA371749461 | GDF6 | c.1319T>G (p.Val440Gly) c.*43T>G (n.*43T>G) c.*6T>G (n.*6T>G) c.920T>G (p.Val307Gly) | |
| 8 | g.96144612A>G | CA4815339 | GDF6 | c.1319T>C (p.Val440Ala) c.*43T>C (n.*43T>C) c.*6T>C (n.*6T>C) c.920T>C (p.Val307Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144612A>T | CA371749462 | GDF6 | c.1319T>A (p.Val440Asp) c.*43T>A (n.*43T>A) c.*6T>A (n.*6T>A) c.920T>A (p.Val307Asp) | |
| 8 | g.96144613C>A | CA371749463 | GDF6 | c.1318G>T (p.Val440Phe) c.*42G>T (n.*42G>T) c.*5G>T (n.*5G>T) c.919G>T (p.Val307Phe) | |
| 8 | g.96144613C>G | CA371749464 | GDF6 | c.1318G>C (p.Val440Leu) c.*42G>C (n.*42G>C) c.*5G>C (n.*5G>C) c.919G>C (p.Val307Leu) | |
| 8 | g.96144613C>T | CA371749465 | GDF6 | c.1318G>A (p.Val440Ile) c.*42G>A (n.*42G>A) c.*5G>A (n.*5G>A) c.919G>A (p.Val307Ile) | |
| 8 | g.96144614C>A | CA462454765 | GDF6 | c.1317G>T (p.Val439=) c.*41G>T (n.*41G>T) c.*4G>T (n.*4G>T) c.918G>T (p.Val306=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96144614C= | CA1804260570 | GDF6 | c.1317G= (p.Val439=) c.*41G= (n.*41G=) c.*4G= (n.*4G=) c.918G= (p.Val306=) | |
| 8 | g.96144614C>G | CA462454766 | GDF6 | c.1317G>C (p.Val439=) c.*41G>C (n.*41G>C) c.*4G>C (n.*4G>C) c.918G>C (p.Val306=) | |
| 8 | g.96144614C>T | CA462454768 | GDF6 | c.1317G>A (p.Val439=) c.*41G>A (n.*41G>A) c.*4G>A (n.*4G>A) c.918G>A (p.Val306=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144615A>C | CA371749466 | GDF6 | c.1316T>G (p.Val439Gly) c.*40T>G (n.*40T>G) c.*3T>G (n.*3T>G) c.917T>G (p.Val306Gly) | |
| 8 | g.96144615A>G | CA371749467 | GDF6 | c.1316T>C (p.Val439Ala) c.*40T>C (n.*40T>C) c.*3T>C (n.*3T>C) c.917T>C (p.Val306Ala) | |
| 8 | g.96144615A>T | CA371749468 | GDF6 | c.1316T>A (p.Val439Glu) c.*40T>A (n.*40T>A) c.*3T>A (n.*3T>A) c.917T>A (p.Val306Glu) | |
| 8 | g.96144616C>A | CA371749469 | GDF6 | c.1315G>T (p.Val439Leu) c.*39G>T (n.*39G>T) c.*2G>T (n.*2G>T) c.916G>T (p.Val306Leu) | |
| 8 | g.96144616C>G | CA371749470 | GDF6 | c.1315G>C (p.Val439Leu) c.*39G>C (n.*39G>C) c.*2G>C (n.*2G>C) c.916G>C (p.Val306Leu) | |
| 8 | g.96144616C>T | CA371749471 | GDF6 | c.1315G>A (p.Val439Met) c.*39G>A (n.*39G>A) c.*2G>A (n.*2G>A) c.916G>A (p.Val306Met) | |
| 8 | g.96144617A>C | CA371749472 | GDF6 | c.1314T>G (p.Asn438Lys) c.*38T>G (n.*38T>G) c.*1T>G (n.*1T>G) c.915T>G (p.Asn305Lys) | |
| 8 | g.96144617A>G | CA462454771 | GDF6 | c.1314T>C (p.Asn438=) c.*38T>C (n.*38T>C) c.*1T>C (n.*1T>C) c.915T>C (p.Asn305=) | gnomAD v4 |
| 8 | g.96144617A>T | CA371749473 | GDF6 | c.1314T>A (p.Asn438Lys) c.*38T>A (n.*38T>A) c.*1T>A (n.*1T>A) c.915T>A (p.Asn305Lys) | |
| 8 | g.96144618T>A | CA371749476 | GDF6 | c.1313A>T (p.Asn438Ile) c.*37A>T (n.*37A>T) c.1062A>T (p.Ter354Tyr) c.914A>T (p.Asn305Ile) | |
| 8 | g.96144618T>C | CA371749475 | GDF6 | c.1313A>G (p.Asn438Ser) c.*37A>G (n.*37A>G) c.1062A>G (p.Ter354=) c.914A>G (p.Asn305Ser) | |
| 8 | g.96144618T>G | CA371749474 | GDF6 | c.1313A>C (p.Asn438Thr) c.*37A>C (n.*37A>C) c.1062A>C (p.Ter354Tyr) c.914A>C (p.Asn305Thr) | |
| 8 | g.96144619T>A | CA371749477 | GDF6 | c.1312A>T (p.Asn438Tyr) c.*36A>T (n.*36A>T) c.1061A>T (p.Ter354Leu) c.913A>T (p.Asn305Tyr) | |
| 8 | g.96144619T>C | CA371749478 | GDF6 | c.1312A>G (p.Asn438Asp) c.*36A>G (n.*36A>G) c.1061A>G (p.Ter354=) c.913A>G (p.Asn305Asp) | |
| 8 | g.96144619T>G | CA371749479 | GDF6 | c.1312A>C (p.Asn438His) c.*36A>C (n.*36A>C) c.1061A>C (p.Ter354Ser) c.913A>C (p.Asn305His) | |
| 8 | g.96144620A>C | CA371749480 | GDF6 | c.1311T>G (p.Asn437Lys) c.*35T>G (n.*35T>G) c.1060T>G (p.Ter354Glu) c.912T>G (p.Asn304Lys) | |
| 8 | g.96144620A>G | CA371749481 | GDF6 | c.1311T>C (p.Asn437=) c.*35T>C (n.*35T>C) c.1060T>C (p.Ter354Gln) c.912T>C (p.Asn304=) | gnomAD v4 |
| 8 | g.96144620A>T | CA371749482 | GDF6 | c.1311T>A (p.Asn437Lys) c.*35T>A (n.*35T>A) c.1060T>A (p.Ter354Lys) c.912T>A (p.Asn304Lys) | |
| 8 | g.96144621T>A | CA371749484 | GDF6 | c.1310A>T (p.Asn437Ile) c.*34A>T (n.*34A>T) c.1059A>T (p.Gln353His) c.911A>T (p.Asn304Ile) | |
| 8 | g.96144621T>C | CA4815340 | GDF6 | c.1310A>G (p.Asn437Ser) c.*34A>G (n.*34A>G) c.1059A>G (p.Gln353=) c.911A>G (p.Asn304Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144621T>G | CA371749483 | GDF6 | c.1310A>C (p.Asn437Thr) c.*34A>C (n.*34A>C) c.1059A>C (p.Gln353His) c.911A>C (p.Asn304Thr) | |
| 8 | g.96144621T= | CA1804260575 | GDF6 | c.1310A= (p.Asn437=) c.*34A= (n.*34A=) c.1059A= (p.Gln353=) c.911A= (p.Asn304=) | |
| 8 | g.96144622T>A | CA371749485 | GDF6 | c.1309A>T (p.Asn437Tyr) c.*33A>T (n.*33A>T) c.1058A>T (p.Gln353Leu) c.910A>T (p.Asn304Tyr) | |
| 8 | g.96144622T>C | CA371749486 | GDF6 | c.1309A>G (p.Asn437Asp) c.*33A>G (n.*33A>G) c.1058A>G (p.Gln353Arg) c.910A>G (p.Asn304Asp) | dbSNP |
| 8 | g.96144622T>G | CA371749487 | GDF6 | c.1309A>C (p.Asn437His) c.*33A>C (n.*33A>C) c.1058A>C (p.Gln353Pro) c.910A>C (p.Asn304His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144622T= | CA1804260578 | GDF6 | c.1309A= (p.Asn437=) c.*33A= (n.*33A=) c.1058A= (p.Gln353=) c.910A= (p.Asn304=) | |
| 8 | g.96144623G>A | CA371749488 | GDF6 | c.1308C>T (p.Gly436=) c.*32C>T (n.*32C>T) c.1057C>T (p.Gln353Ter) c.909C>T (p.Gly303=) | |
| 8 | g.96144623G>C | CA371749489 | GDF6 | c.1308C>G (p.Gly436=) c.*32C>G (n.*32C>G) c.1057C>G (p.Gln353Glu) c.909C>G (p.Gly303=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144623G= | CA1804260583 | GDF6 | c.1308C= (p.Gly436=) c.*32C= (n.*32C=) c.1057C= (p.Gln353=) c.909C= (p.Gly303=) | |
| 8 | g.96144623G>T | CA371749490 | GDF6 | c.1308C>A (p.Gly436=) c.*32C>A (n.*32C>A) c.1057C>A (p.Gln353Lys) c.909C>A (p.Gly303=) | |
| 8 | g.96144624C>A | CA371749491 | GDF6 | c.1307G>T (p.Gly436Val) c.*31G>T (n.*31G>T) c.1056G>T (p.Gly352=) c.908G>T (p.Gly303Val) | gnomAD v4 |
| 8 | g.96144624C>G | CA371749493 | GDF6 | c.1307G>C (p.Gly436Ala) c.*31G>C (n.*31G>C) c.1056G>C (p.Gly352=) c.908G>C (p.Gly303Ala) | gnomAD v4 |
| 8 | g.96144624C>T | CA371749492 | GDF6 | c.1307G>A (p.Gly436Asp) c.*31G>A (n.*31G>A) c.1056G>A (p.Gly352=) c.908G>A (p.Gly303Asp) | gnomAD v4 |
| 8 | g.96144625C>A | CA371749494 | GDF6 | c.1306G>T (p.Gly436Cys) c.*30G>T (n.*30G>T) c.1055G>T (p.Gly352Val) c.907G>T (p.Gly303Cys) | COSMIC |
| 8 | g.96144625C= | CA1804260587 | GDF6 | c.1306G= (p.Gly436=) c.*30G= (n.*30G=) c.1055G= (p.Gly352=) c.907G= (p.Gly303=) | |
| 8 | g.96144625C>G | CA371749495 | GDF6 | c.1306G>C (p.Gly436Arg) c.*30G>C (n.*30G>C) c.1055G>C (p.Gly352Ala) c.907G>C (p.Gly303Arg) | |
| 8 | g.96144625C>T | CA371749496 | GDF6 | c.1306G>A (p.Gly436Ser) c.*30G>A (n.*30G>A) c.1055G>A (p.Gly352Glu) c.907G>A (p.Gly303Ser) | ClinVar dbSNP |
| 8 | g.96144626C>A | CA371749497 | GDF6 | c.1305G>T (p.Ala435=) c.*29G>T (n.*29G>T) c.1054G>T (p.Gly352Trp) c.906G>T (p.Ala302=) | |
| 8 | g.96144626C= | CA1804260592 | GDF6 | c.1305G= (p.Ala435=) c.*29G= (n.*29G=) c.1054G= (p.Gly352=) c.906G= (p.Ala302=) | |
| 8 | g.96144626C>G | CA371749498 | GDF6 | c.1305G>C (p.Ala435=) c.*29G>C (n.*29G>C) c.1054G>C (p.Gly352Arg) c.906G>C (p.Ala302=) | dbSNP gnomAD v2 |
| 8 | g.96144626C>T | CA4815341 | GDF6 | c.1305G>A (p.Ala435=) c.*29G>A (n.*29G>A) c.1054G>A (p.Gly352Arg) c.906G>A (p.Ala302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144627G>A | CA4815342 | GDF6 | c.1304C>T (p.Ala435Val) c.*28C>T (n.*28C>T) c.1053C>T (p.Arg351=) c.905C>T (p.Ala302Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.96144627G>C | CA371749499 | GDF6 | c.1304C>G (p.Ala435Gly) c.*28C>G (n.*28C>G) c.1053C>G (p.Arg351=) c.905C>G (p.Ala302Gly) | |
| 8 | g.96144627G= | CA1804260599 | GDF6 | c.1304C= (p.Ala435=) c.*28C= (n.*28C=) c.1053C= (p.Arg351=) c.905C= (p.Ala302=) | |
| 8 | g.96144627G>T | CA371749500 | GDF6 | c.1304C>A (p.Ala435Glu) c.*28C>A (n.*28C>A) c.1053C>A (p.Arg351=) c.905C>A (p.Ala302Glu) | |
| 8 | g.96144628C>A | CA371749501 | GDF6 | c.1303G>T (p.Ala435Ser) c.*27G>T (n.*27G>T) c.1052G>T (p.Arg351Leu) c.904G>T (p.Ala302Ser) | COSMIC |
| 8 | g.96144628C>G | CA371749502 | GDF6 | c.1303G>C (p.Ala435Pro) c.*27G>C (n.*27G>C) c.1052G>C (p.Arg351Pro) c.904G>C (p.Ala302Pro) | |
| 8 | g.96144628C>T | CA371749503 | GDF6 | c.1303G>A (p.Ala435Thr) c.*27G>A (n.*27G>A) c.1052G>A (p.Arg351His) c.904G>A (p.Ala302Thr) | COSMIC |
| 8 | g.96144629G>A | CA4815343 | GDF6 | c.1302C>T (p.Asp434=) c.*26C>T (n.*26C>T) c.1051C>T (p.Arg351Cys) c.903C>T (p.Asp301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144629G>C | CA371749505 | GDF6 | c.1302C>G (p.Asp434Glu) c.*26C>G (n.*26C>G) c.1051C>G (p.Arg351Gly) c.903C>G (p.Asp301Glu) | |
| 8 | g.96144629G= | CA1804260613 | GDF6 | c.1302C= (p.Asp434=) c.*26C= (n.*26C=) c.1051C= (p.Arg351=) c.903C= (p.Asp301=) | |
| 8 | g.96144629G>T | CA371749504 | GDF6 | c.1302C>A (p.Asp434Glu) c.*26C>A (n.*26C>A) c.1051C>A (p.Arg351Ser) c.903C>A (p.Asp301Glu) | COSMIC |
| 8 | g.96144630T>A | CA371749506 | GDF6 | c.1301A>T (p.Asp434Val) c.*25A>T (n.*25A>T) c.1050A>T (p.Arg350=) c.902A>T (p.Asp301Val) | |
| 8 | g.96144630T>C | CA371749507 | GDF6 | c.1301A>G (p.Asp434Gly) c.*25A>G (n.*25A>G) c.1050A>G (p.Arg350=) c.902A>G (p.Asp301Gly) | |
| 8 | g.96144630T>G | CA371749508 | GDF6 | c.1301A>C (p.Asp434Ala) c.*25A>C (n.*25A>C) c.1050A>C (p.Arg350=) c.902A>C (p.Asp301Ala) | |
| 8 | g.96144631C>A | CA371749509 | GDF6 | c.1300G>T (p.Asp434Tyr) c.*24G>T (n.*24G>T) c.1049G>T (p.Arg350Leu) c.901G>T (p.Asp301Tyr) | |
| 8 | g.96144631C>G | CA371749510 | GDF6 | c.1300G>C (p.Asp434His) c.*24G>C (n.*24G>C) c.1049G>C (p.Arg350Pro) c.901G>C (p.Asp301His) | |
| 8 | g.96144631C>T | CA371749511 | GDF6 | c.1300G>A (p.Asp434Asn) c.*24G>A (n.*24G>A) c.1049G>A (p.Arg350Gln) c.901G>A (p.Asp301Asn) | |
| 8 | g.96144632G>A | CA371749512 | GDF6 | c.1299C>T (p.Ile433=) c.*23C>T (n.*23C>T) c.1048C>T (p.Arg350Ter) c.900C>T (p.Ile300=) | |
| 8 | g.96144632G>C | CA371749513 | GDF6 | c.1299C>G (p.Ile433Met) c.*23C>G (n.*23C>G) c.1048C>G (p.Arg350Gly) c.900C>G (p.Ile300Met) | |
| 8 | g.96144632G>T | CA462454809 | GDF6 | c.1299C>A (p.Ile433=) c.*23C>A (n.*23C>A) c.1048C>A (p.Arg350=) c.900C>A (p.Ile300=) | |
| 8 | g.96144633A>C | CA371749514 | GDF6 | c.1298T>G (p.Ile433Ser) c.*22T>G (n.*22T>G) c.1047T>G (p.His349Gln) c.899T>G (p.Ile300Ser) | |
| 8 | g.96144633A>G | CA371749515 | GDF6 | c.1298T>C (p.Ile433Thr) c.*22T>C (n.*22T>C) c.1047T>C (p.His349=) c.899T>C (p.Ile300Thr) | |
| 8 | g.96144633A>T | CA371749516 | GDF6 | c.1298T>A (p.Ile433Asn) c.*22T>A (n.*22T>A) c.1047T>A (p.His349Gln) c.899T>A (p.Ile300Asn) | |
| 8 | g.96144634T>A | CA371749519 | GDF6 | c.1297A>T (p.Ile433Phe) c.*21A>T (n.*21A>T) c.1046A>T (p.His349Leu) c.898A>T (p.Ile300Phe) | |
| 8 | g.96144634T>C | CA371749518 | GDF6 | c.1297A>G (p.Ile433Val) c.*21A>G (n.*21A>G) c.1046A>G (p.His349Arg) c.898A>G (p.Ile300Val) | |
| 8 | g.96144634T>G | CA371749517 | GDF6 | c.1297A>C (p.Ile433Leu) c.*21A>C (n.*21A>C) c.1046A>C (p.His349Pro) c.898A>C (p.Ile300Leu) | |
| 8 | g.96144635G>A | CA181485018 | GDF6 | c.1296C>T (p.Tyr432=) c.*20C>T (n.*20C>T) c.1045C>T (p.His349Tyr) c.897C>T (p.Tyr299=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.96144635G>C | CA371749520 | GDF6 | c.1296C>G (p.Tyr432Ter) c.*20C>G (n.*20C>G) c.1045C>G (p.His349Asp) c.897C>G (p.Tyr299Ter) | |
| 8 | g.96144635G= | CA1804260618 | GDF6 | c.1296C= (p.Tyr432=) c.*20C= (n.*20C=) c.1045C= (p.His349=) c.897C= (p.Tyr299=) | |
| 8 | g.96144635G>T | CA371749521 | GDF6 | c.1296C>A (p.Tyr432Ter) c.*20C>A (n.*20C>A) c.1045C>A (p.His349Asn) c.897C>A (p.Tyr299Ter) | |
| 8 | g.96144636T>A | CA371749522 | GDF6 | c.1295A>T (p.Tyr432Phe) c.*19A>T (n.*19A>T) c.1044A>T (p.Ile348=) c.896A>T (p.Tyr299Phe) | |
| 8 | g.96144636T>C | CA371749523 | GDF6 | c.1295A>G (p.Tyr432Cys) c.*19A>G (n.*19A>G) c.1044A>G (p.Ile348Met) c.896A>G (p.Tyr299Cys) | |
| 8 | g.96144636T>G | CA371749524 | GDF6 | c.1295A>C (p.Tyr432Ser) c.*19A>C (n.*19A>C) c.1044A>C (p.Ile348=) c.896A>C (p.Tyr299Ser) | |
| 8 | g.96144637A= | CA1804260622 | GDF6 | c.1294T= (p.Tyr432=) c.*18T= (n.*18T=) c.1043T= (p.Ile348=) c.895T= (p.Tyr299=) | |
| 8 | g.96144637A>C | CA371749525 | GDF6 | c.1294T>G (p.Tyr432Asp) c.*18T>G (n.*18T>G) c.1043T>G (p.Ile348Arg) c.895T>G (p.Tyr299Asp) | |
| 8 | g.96144637A>G | CA371749526 | GDF6 | c.1294T>C (p.Tyr432His) c.*18T>C (n.*18T>C) c.1043T>C (p.Ile348Thr) c.895T>C (p.Tyr299His) | |
| 8 | g.96144637A>T | CA4815344 | GDF6 | c.1294T>A (p.Tyr432Asn) c.*18T>A (n.*18T>A) c.1043T>A (p.Ile348Lys) c.895T>A (p.Tyr299Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144638T>A | CA371749527 | GDF6 | c.1293A>T (p.Leu431=) c.*17A>T (n.*17A>T) c.1042A>T (p.Ile348Leu) c.894A>T (p.Leu298=) | |
| 8 | g.96144638T>C | CA4815345 | GDF6 | c.1293A>G (p.Leu431=) c.*17A>G (n.*17A>G) c.1042A>G (p.Ile348Val) c.894A>G (p.Leu298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144638T>G | CA371749528 | GDF6 | c.1293A>C (p.Leu431=) c.*17A>C (n.*17A>C) c.1042A>C (p.Ile348Leu) c.894A>C (p.Leu298=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144638T= | CA1804260628 | GDF6 | c.1293A= (p.Leu431=) c.*17A= (n.*17A=) c.1042A= (p.Ile348=) c.894A= (p.Leu298=) | |
| 8 | g.96144639A>C | CA371749531 | GDF6 | c.1292T>G (p.Leu431Arg) c.*16T>G (n.*16T>G) c.1041T>G (p.Ser347=) c.893T>G (p.Leu298Arg) | |
| 8 | g.96144639A>G | CA371749530 | GDF6 | c.1292T>C (p.Leu431Pro) c.*16T>C (n.*16T>C) c.1041T>C (p.Ser347=) c.893T>C (p.Leu298Pro) | |
| 8 | g.96144639A>T | CA371749529 | GDF6 | c.1292T>A (p.Leu431Gln) c.*16T>A (n.*16T>A) c.1041T>A (p.Ser347=) c.893T>A (p.Leu298Gln) | |
| 8 | g.96144640G>A | CA371749532 | GDF6 | c.1291C>T (p.Leu431=) c.*15C>T (n.*15C>T) c.1040C>T (p.Ser347Phe) c.892C>T (p.Leu298=) | dbSNP COSMIC |
| 8 | g.96144640G>C | CA371749534 | GDF6 | c.1291C>G (p.Leu431Val) c.*15C>G (n.*15C>G) c.1040C>G (p.Ser347Cys) c.892C>G (p.Leu298Val) | |
| 8 | g.96144640G= | CA1804260636 | GDF6 | c.1291C= (p.Leu431=) c.*15C= (n.*15C=) c.1040C= (p.Ser347=) c.892C= (p.Leu298=) | |
| 8 | g.96144640G>T | CA371749533 | GDF6 | c.1291C>A (p.Leu431Ile) c.*15C>A (n.*15C>A) c.1040C>A (p.Ser347Tyr) c.892C>A (p.Leu298Ile) | |
| 8 | g.96144641A>C | CA371749535 | GDF6 | c.1290T>G (p.Ile430Met) c.*14T>G (n.*14T>G) c.1039T>G (p.Ser347Ala) c.891T>G (p.Ile297Met) | |
| 8 | g.96144641A>G | CA371749536 | GDF6 | c.1290T>C (p.Ile430=) c.*14T>C (n.*14T>C) c.1039T>C (p.Ser347Pro) c.891T>C (p.Ile297=) | gnomAD v4 |
| 8 | g.96144641A>T | CA371749537 | GDF6 | c.1290T>A (p.Ile430=) c.*14T>A (n.*14T>A) c.1039T>A (p.Ser347Thr) c.891T>A (p.Ile297=) | |
| 8 | g.96144642A>C | CA371749538 | GDF6 | c.1289T>G (p.Ile430Ser) c.*13T>G (n.*13T>G) c.1038T>G (p.His346Gln) c.890T>G (p.Ile297Ser) | |
| 8 | g.96144642A>G | CA371749539 | GDF6 | c.1289T>C (p.Ile430Thr) c.*13T>C (n.*13T>C) c.1038T>C (p.His346=) c.890T>C (p.Ile297Thr) | |
| 8 | g.96144642A>T | CA371749540 | GDF6 | c.1289T>A (p.Ile430Asn) c.*13T>A (n.*13T>A) c.1038T>A (p.His346Gln) c.890T>A (p.Ile297Asn) | |
| 8 | g.96144643T>A | CA371749541 | GDF6 | c.1288A>T (p.Ile430Phe) c.*12A>T (n.*12A>T) c.1037A>T (p.His346Leu) c.889A>T (p.Ile297Phe) | |
| 8 | g.96144643T>C | CA371749542 | GDF6 | c.1288A>G (p.Ile430Val) c.*12A>G (n.*12A>G) c.1037A>G (p.His346Arg) c.889A>G (p.Ile297Val) | gnomAD v4 |
| 8 | g.96144643T>G | CA371749543 | GDF6 | c.1288A>C (p.Ile430Leu) c.*12A>C (n.*12A>C) c.1037A>C (p.His346Pro) c.889A>C (p.Ile297Leu) | gnomAD v4 |
| 8 | g.96144644G>A | CA371749544 | GDF6 | c.1287C>T (p.Ser429=) c.*11C>T (n.*11C>T) c.1036C>T (p.His346Tyr) c.888C>T (p.Ser296=) | |
| 8 | g.96144644G>C | CA371749545 | GDF6 | c.1287C>G (p.Ser429Arg) c.*11C>G (n.*11C>G) c.1036C>G (p.His346Asp) c.888C>G (p.Ser296Arg) | |
| 8 | g.96144644G= | CA1804260647 | GDF6 | c.1287C= (p.Ser429=) c.*11C= (n.*11C=) c.1036C= (p.His346=) c.888C= (p.Ser296=) | |
| 8 | g.96144644G>T | CA371749546 | GDF6 | c.1287C>A (p.Ser429Arg) c.*11C>A (n.*11C>A) c.1036C>A (p.His346Asn) c.888C>A (p.Ser296Arg) | ClinVar dbSNP |
| 8 | g.96144645C>A | CA371749549 | GDF6 | c.1286G>T (p.Ser429Ile) c.*10G>T (n.*10G>T) c.1035G>T (p.Gln345His) c.887G>T (p.Ser296Ile) | |
| 8 | g.96144645C>G | CA371749547 | GDF6 | c.1286G>C (p.Ser429Thr) c.*10G>C (n.*10G>C) c.1035G>C (p.Gln345His) c.887G>C (p.Ser296Thr) | |
| 8 | g.96144645C>T | CA371749548 | GDF6 | c.1286G>A (p.Ser429Asn) c.*10G>A (n.*10G>A) c.1035G>A (p.Gln345=) c.887G>A (p.Ser296Asn) | gnomAD v4 |
| 8 | g.96144646T>A | CA371749550 | GDF6 | c.1285A>T (p.Ser429Cys) c.*9A>T (n.*9A>T) c.1034A>T (p.Gln345Leu) c.886A>T (p.Ser296Cys) | |
| 8 | g.96144646T>C | CA371749551 | GDF6 | c.1285A>G (p.Ser429Gly) c.*9A>G (n.*9A>G) c.1034A>G (p.Gln345Arg) c.886A>G (p.Ser296Gly) | |
| 8 | g.96144646T>G | CA371749552 | GDF6 | c.1285A>C (p.Ser429Arg) c.*9A>C (n.*9A>C) c.1034A>C (p.Gln345Pro) c.886A>C (p.Ser296Arg) | |
| 8 | g.96144647G>A | CA371749553 | GDF6 | c.1284C>T (p.Ile428=) c.*8C>T (n.*8C>T) c.1033C>T (p.Gln345Ter) c.885C>T (p.Ile295=) | gnomAD v4 |
| 8 | g.96144647G>C | CA371749554 | GDF6 | c.1284C>G (p.Ile428Met) c.*8C>G (n.*8C>G) c.1033C>G (p.Gln345Glu) c.885C>G (p.Ile295Met) | |
| 8 | g.96144647G>T | CA371749555 | GDF6 | c.1284C>A (p.Ile428=) c.*8C>A (n.*8C>A) c.1033C>A (p.Gln345Lys) c.885C>A (p.Ile295=) | |
| 8 | g.96144648A>C | CA371749556 | GDF6 | c.1283T>G (p.Ile428Ser) c.*7T>G (n.*7T>G) c.1032T>G (p.His344Gln) c.884T>G (p.Ile295Ser) | dbSNP |
| 8 | g.96144648A>G | CA371749557 | GDF6 | c.1283T>C (p.Ile428Thr) c.*7T>C (n.*7T>C) c.1032T>C (p.His344=) c.884T>C (p.Ile295Thr) | |
| 8 | g.96144648A>T | CA371749558 | GDF6 | c.1283T>A (p.Ile428Asn) c.*7T>A (n.*7T>A) c.1032T>A (p.His344Gln) c.884T>A (p.Ile295Asn) | gnomAD v4 |
| 8 | g.96144649T>A | CA371749559 | GDF6 | c.1282A>T (p.Ile428Phe) c.*6A>T (n.*6A>T) c.1031A>T (p.His344Leu) c.883A>T (p.Ile295Phe) | |
| 8 | g.96144649T>C | CA4815346 | GDF6 | c.1282A>G (p.Ile428Val) c.*6A>G (n.*6A>G) c.1031A>G (p.His344Arg) c.883A>G (p.Ile295Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144649T>G | CA371749560 | GDF6 | c.1282A>C (p.Ile428Leu) c.*6A>C (n.*6A>C) c.1031A>C (p.His344Pro) c.883A>C (p.Ile295Leu) | |
| 8 | g.96144649T= | CA1804260663 | GDF6 | c.1282A= (p.Ile428=) c.*6A= (n.*6A=) c.1031A= (p.His344=) c.883A= (p.Ile295=) | |
| 8 | g.96144650G>A | CA371749563 | GDF6 | c.1281C>T (p.Pro427=) c.*5C>T (n.*5C>T) c.1030C>T (p.His344Tyr) c.882C>T (p.Pro294=) | |
| 8 | g.96144650G>C | CA371749562 | GDF6 | c.1281C>G (p.Pro427=) c.*5C>G (n.*5C>G) c.1030C>G (p.His344Asp) c.882C>G (p.Pro294=) | |
| 8 | g.96144650G>T | CA371749561 | GDF6 | c.1281C>A (p.Pro427=) c.*5C>A (n.*5C>A) c.1030C>A (p.His344Asn) c.882C>A (p.Pro294=) | |
| 8 | g.96144651G>A | CA371749566 | GDF6 | c.1280C>T (p.Pro427Leu) c.*4C>T (n.*4C>T) c.1029C>T (p.Ser343=) c.881C>T (p.Pro294Leu) | |
| 8 | g.96144651G>C | CA371749564 | GDF6 | c.1280C>G (p.Pro427Arg) c.*4C>G (n.*4C>G) c.1029C>G (p.Ser343=) c.881C>G (p.Pro294Arg) | |
| 8 | g.96144651G>T | CA371749565 | GDF6 | c.1280C>A (p.Pro427His) c.*4C>A (n.*4C>A) c.1029C>A (p.Ser343=) c.881C>A (p.Pro294His) | |
| 8 | g.96144652G>A | CA371749567 | GDF6 | c.1279C>T (p.Pro427Ser) c.*3C>T (n.*3C>T) c.1028C>T (p.Ser343Phe) c.880C>T (p.Pro294Ser) | gnomAD v4 |
| 8 | g.96144652G>C | CA371749568 | GDF6 | c.1279C>G (p.Pro427Ala) c.*3C>G (n.*3C>G) c.1028C>G (p.Ser343Cys) c.880C>G (p.Pro294Ala) | gnomAD v4 |
| 8 | g.96144652G>T | CA371749569 | GDF6 | c.1279C>A (p.Pro427Thr) c.*3C>A (n.*3C>A) c.1028C>A (p.Ser343Tyr) c.880C>A (p.Pro294Thr) | |
| 8 | g.96144653A>C | CA371749572 | GDF6 | c.1278T>G (p.Thr426=) c.*2T>G (n.*2T>G) c.1027T>G (p.Ser343Ala) c.879T>G (p.Thr293=) | |
| 8 | g.96144653A>G | CA371749571 | GDF6 | c.1278T>C (p.Thr426=) c.*2T>C (n.*2T>C) c.1027T>C (p.Ser343Pro) c.879T>C (p.Thr293=) | gnomAD v4 |
| 8 | g.96144653A>T | CA371749570 | GDF6 | c.1278T>A (p.Thr426=) c.*2T>A (n.*2T>A) c.1027T>A (p.Ser343Thr) c.879T>A (p.Thr293=) | |
| 8 | g.96144654G>A | CA371749573 | GDF6 | c.1277C>T (p.Thr426Ile) c.*1C>T (n.*1C>T) c.1026C>T (p.Asp342=) c.878C>T (p.Thr293Ile) | |
| 8 | g.96144654G>C | CA371749574 | GDF6 | c.1277C>G (p.Thr426Ser) c.*1C>G (n.*1C>G) c.1026C>G (p.Asp342Glu) c.878C>G (p.Thr293Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144654G= | CA1804260671 | GDF6 | c.1277C= (p.Thr426=) c.*1C= (n.*1C=) c.1026C= (p.Asp342=) c.878C= (p.Thr293=) | |
| 8 | g.96144654G>T | CA371749575 | GDF6 | c.1277C>A (p.Thr426Asn) c.*1C>A (n.*1C>A) c.1026C>A (p.Asp342Glu) c.878C>A (p.Thr293Asn) | gnomAD v4 |
| 8 | g.96144655T>A | CA371749576 | GDF6 | c.1276A>T (p.Thr426Ser) c.816A>T (p.Ter272Cys) c.1025A>T (p.Asp342Val) c.877A>T (p.Thr293Ser) | |
| 8 | g.96144655T>C | CA371749577 | GDF6 | c.1276A>G (p.Thr426Ala) c.816A>G (p.Ter272Trp) c.1025A>G (p.Asp342Gly) c.877A>G (p.Thr293Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144655T>G | CA371749578 | GDF6 | c.1276A>C (p.Thr426Pro) c.816A>C (p.Ter272Cys) c.1025A>C (p.Asp342Ala) c.877A>C (p.Thr293Pro) | |
| 8 | g.96144655T= | CA1804260677 | GDF6 | c.1276A= (p.Thr426=) c.816A= (p.Ter272=) c.1025A= (p.Asp342=) c.877A= (p.Thr293=) | |
| 8 | g.96144656C>A | CA371749579 | GDF6 | c.1275G>T (p.Leu425Phe) c.815G>T (p.Ter272Leu) c.1024G>T (p.Asp342Tyr) c.876G>T (p.Leu292Phe) | |
| 8 | g.96144656C= | CA1804260682 | GDF6 | c.1275G= (p.Leu425=) c.815G= (p.Ter272=) c.1024G= (p.Asp342=) c.876G= (p.Leu292=) | |
| 8 | g.96144656C>G | CA371749581 | GDF6 | c.1275G>C (p.Leu425Phe) c.815G>C (p.Ter272Ser) c.1024G>C (p.Asp342His) c.876G>C (p.Leu292Phe) | |
| 8 | g.96144656C>T | CA371749580 | GDF6 | c.1275G>A (p.Leu425=) c.815G>A (p.Ter272=) c.1024G>A (p.Asp342Asn) c.876G>A (p.Leu292=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.96144657A>C | CA371749582 | GDF6 | c.1274T>G (p.Leu425Trp) c.814T>G (p.Ter272Gly) c.1023T>G (p.Ile341Met) c.875T>G (p.Leu292Trp) | |
| 8 | g.96144657A>G | CA371749583 | GDF6 | c.1274T>C (p.Leu425Ser) c.814T>C (p.Ter272Arg) c.1023T>C (p.Ile341=) c.875T>C (p.Leu292Ser) | |
| 8 | g.96144657A>T | CA371749584 | GDF6 | c.1274T>A (p.Leu425Ter) c.814T>A (p.Ter272Arg) c.1023T>A (p.Ile341=) c.875T>A (p.Leu292Ter) | |
| 8 | g.96144658A>C | CA371749585 | GDF6 | c.1273T>G (p.Leu425Val) c.813T>G (p.Asn271Lys) c.1022T>G (p.Ile341Ser) c.874T>G (p.Leu292Val) | |
| 8 | g.96144658A>G | CA371749586 | GDF6 | c.1273T>C (p.Leu425=) c.813T>C (p.Asn271=) c.1022T>C (p.Ile341Thr) c.874T>C (p.Leu292=) | gnomAD v4 |
| 8 | g.96144658A>T | CA371749587 | GDF6 | c.1273T>A (p.Leu425Met) c.813T>A (p.Asn271Lys) c.1022T>A (p.Ile341Asn) c.874T>A (p.Leu292Met) | |
| 8 | g.96144659T>A | CA371749588 | GDF6 | c.1272A>T (p.Lys424Asn) c.812A>T (p.Asn271Ile) c.1021A>T (p.Ile341Phe) c.873A>T (p.Lys291Asn) | COSMIC |
| 8 | g.96144659T>C | CA371749589 | GDF6 | c.1272A>G (p.Lys424=) c.812A>G (p.Asn271Ser) c.1021A>G (p.Ile341Val) c.873A>G (p.Lys291=) | gnomAD v4 |
| 8 | g.96144659T>G | CA371749590 | GDF6 | c.1272A>C (p.Lys424Asn) c.812A>C (p.Asn271Thr) c.1021A>C (p.Ile341Leu) c.873A>C (p.Lys291Asn) | |
| 8 | g.96144660T>A | CA371749591 | GDF6 | c.1271A>T (p.Lys424Ile) c.811A>T (p.Asn271Tyr) c.1020A>T (p.Gln340His) c.872A>T (p.Lys291Ile) | |
| 8 | g.96144660T>C | CA119557 | GDF6 | c.1271A>G (p.Lys424Arg) c.811A>G (p.Asn271Asp) c.1020A>G (p.Gln340=) c.872A>G (p.Lys291Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.96144660T>G | CA371749592 | GDF6 | c.1271A>C (p.Lys424Thr) c.811A>C (p.Asn271His) c.1020A>C (p.Gln340His) c.872A>C (p.Lys291Thr) | |
| 8 | g.96144660T= | CA1804260694 | GDF6 | c.1271A= (p.Lys424=) c.811A= (p.Asn271=) c.1020A= (p.Gln340=) c.872A= (p.Lys291=) | |
| 8 | g.96144661T>A | CA371749594 | GDF6 | c.1270A>T (p.Lys424Ter) c.810A>T (p.Pro270=) c.1019A>T (p.Gln340Leu) c.871A>T (p.Lys291Ter) | gnomAD v4 |
| 8 | g.96144661T>C | CA371749595 | GDF6 | c.1270A>G (p.Lys424Glu) c.810A>G (p.Pro270=) c.1019A>G (p.Gln340Arg) c.871A>G (p.Lys291Glu) | |
| 8 | g.96144661T>G | CA371749593 | GDF6 | c.1270A>C (p.Lys424Gln) c.810A>C (p.Pro270=) c.1019A>C (p.Gln340Pro) c.871A>C (p.Lys291Gln) | |
| 8 | g.96144662G>A | CA371749596 | GDF6 | c.1269C>T (p.Thr423=) c.809C>T (p.Pro270Leu) c.1018C>T (p.Gln340Ter) c.870C>T (p.Thr290=) | |
| 8 | g.96144662G>C | CA371749597 | GDF6 | c.1269C>G (p.Thr423=) c.809C>G (p.Pro270Arg) c.1018C>G (p.Gln340Glu) c.870C>G (p.Thr290=) | |
| 8 | g.96144662G>T | CA371749598 | GDF6 | c.1269C>A (p.Thr423=) c.809C>A (p.Pro270Gln) c.1018C>A (p.Gln340Lys) c.870C>A (p.Thr290=) | gnomAD v4 |
| 8 | g.96144663G>A | CA371749599 | GDF6 | c.1268C>T (p.Thr423Ile) c.808C>T (p.Pro270Ser) c.1017C>T (p.His339=) c.869C>T (p.Thr290Ile) | ClinVar dbSNP gnomAD v4 |
| 8 | g.96144663G>C | CA4815347 | GDF6 | c.1268C>G (p.Thr423Ser) c.808C>G (p.Pro270Ala) c.1017C>G (p.His339Gln) c.869C>G (p.Thr290Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.96144663G= | CA1804260698 | GDF6 | c.1268C= (p.Thr423=) c.808C= (p.Pro270=) c.1017C= (p.His339=) c.869C= (p.Thr290=) | |
| 8 | g.96144663G>T | CA371749600 | GDF6 | c.1268C>A (p.Thr423Asn) c.808C>A (p.Pro270Thr) c.1017C>A (p.His339Gln) c.869C>A (p.Thr290Asn) | COSMIC |
| 8 | g.96144664T>A | CA371749603 | GDF6 | c.1267A>T (p.Thr423Ser) c.807A>T (p.Pro269=) c.1016A>T (p.His339Leu) c.868A>T (p.Thr290Ser) | |
| 8 | g.96144664T>C | CA371749602 | GDF6 | c.1267A>G (p.Thr423Ala) c.807A>G (p.Pro269=) c.1016A>G (p.His339Arg) c.868A>G (p.Thr290Ala) | |
| 8 | g.96144664T>G | CA371749601 | GDF6 | c.1267A>C (p.Thr423Pro) c.807A>C (p.Pro269=) c.1016A>C (p.His339Pro) c.868A>C (p.Thr290Pro) | |
| 8 | g.96144665G>A | CA371749604 | GDF6 | c.1266C>T (p.Pro422=) c.806C>T (p.Pro269Leu) c.1015C>T (p.His339Tyr) c.867C>T (p.Pro289=) | |
| 8 | g.96144665G>C | CA371749605 | GDF6 | c.1266C>G (p.Pro422=) c.806C>G (p.Pro269Arg) c.1015C>G (p.His339Asp) c.867C>G (p.Pro289=) | |
| 8 | g.96144665G>T | CA371749606 | GDF6 | c.1266C>A (p.Pro422=) c.806C>A (p.Pro269Gln) c.1015C>A (p.His339Asn) c.867C>A (p.Pro289=) |