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 |
|---|---|---|---|---|---|
| 5 | g.177995842del | CA2580074149 | PROP1 | c.95del (p.Pro32ArgfsTer?) | ClinVar gnomAD v4 |
| 5 | g.177995841G>A | CA3587641 | PROP1 | c.93C>T (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.177995841G>C | CA447992892 | PROP1 | c.93C>G (p.Thr31=) | |
| 5 | g.177995841G= | CA1603815333 | PROP1 | c.93C= (p.Thr31=) | |
| 5 | g.177995841G>T | CA447992895 | PROP1 | c.93C>A (p.Thr31=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995842G>A | CA362379446 | PROP1 | c.92C>T (p.Thr31Ile) | gnomAD v4 |
| 5 | g.177995842G>C | CA362379448 | PROP1 | c.92C>G (p.Thr31Ser) | |
| 5 | g.177995842G= | CA1603815334 | PROP1 | c.92C= (p.Thr31=) | |
| 5 | g.177995842G>T | CA362379447 | PROP1 | c.92C>A (p.Thr31Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995843T>A | CA362379449 | PROP1 | c.91A>T (p.Thr31Ser) | |
| 5 | g.177995843T>C | CA362379451 | PROP1 | c.91A>G (p.Thr31Ala) | gnomAD v4 |
| 5 | g.177995843T>G | CA362379450 | PROP1 | c.91A>C (p.Thr31Pro) | dbSNP |
| 5 | g.177995843T= | CA1603815335 | PROP1 | c.91A= (p.Thr31=) | |
| 5 | g.177995843dup | CA808119911 | PROP1 | c.91dup (p.Thr31AsnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995844C>A | CA447992906 | PROP1 | c.90G>T (p.Gly30=) | |
| 5 | g.177995844C= | CA1603815336 | PROP1 | c.90G= (p.Gly30=) | |
| 5 | g.177995844C>G | CA447992907 | PROP1 | c.90G>C (p.Gly30=) | |
| 5 | g.177995844C>T | CA3587642 | PROP1 | c.90G>A (p.Gly30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995844delinsTT | CA2740094196 | PROP1 | c.90delinsAA (p.Thr31AsnfsTer?) | ClinVar |
| 5 | g.177995844_177995845delinsTT | CA645563838 | PROP1 | c.89_90delinsAA (p.Gly30Glu) | COSMIC |
| 5 | g.177995845C>A | CA362379452 | PROP1 | c.89G>T (p.Gly30Val) | |
| 5 | g.177995845C= | CA1603815337 | PROP1 | c.89G= (p.Gly30=) | |
| 5 | g.177995845C>G | CA362379453 | PROP1 | c.89G>C (p.Gly30Ala) | |
| 5 | g.177995845C>T | CA3587643 | PROP1 | c.89G>A (p.Gly30Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995846C>A | CA362379454 | PROP1 | c.88G>T (p.Gly30Trp) | |
| 5 | g.177995846C= | CA1603815338 | PROP1 | c.88G= (p.Gly30=) | |
| 5 | g.177995846C>G | CA362379455 | PROP1 | c.88G>C (p.Gly30Arg) | |
| 5 | g.177995846C>T | CA362379456 | PROP1 | c.88G>A (p.Gly30Arg) | dbSNP gnomAD v4 |
| 5 | g.177995847A= | CA1603815339 | PROP1 | c.87T= (p.Thr29=) | |
| 5 | g.177995847A>C | CA447992920 | PROP1 | c.87T>G (p.Thr29=) | ClinVar |
| 5 | g.177995847A>G | CA3587644 | PROP1 | c.87T>C (p.Thr29=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995847A>T | CA447992924 | PROP1 | c.87T>A (p.Thr29=) | gnomAD v4 |
| 5 | g.177995848G>A | CA362379457 | PROP1 | c.86C>T (p.Thr29Ile) | gnomAD v4 |
| 5 | g.177995848G>C | CA362379458 | PROP1 | c.86C>G (p.Thr29Ser) | gnomAD v4 |
| 5 | g.177995848G= | CA1603815340 | PROP1 | c.86C= (p.Thr29=) | |
| 5 | g.177995848G>T | CA362379459 | PROP1 | c.86C>A (p.Thr29Asn) | dbSNP |
| 5 | g.177995849T>A | CA362379461 | PROP1 | c.85A>T (p.Thr29Ser) | |
| 5 | g.177995849T>C | CA3587645 | PROP1 | c.85A>G (p.Thr29Ala) | dbSNP ExAC gnomAD v2 |
| 5 | g.177995849T>G | CA362379460 | PROP1 | c.85A>C (p.Thr29Pro) | |
| 5 | g.177995849T= | CA1603815341 | PROP1 | c.85A= (p.Thr29=) | |
| 5 | g.177995850G>A | CA447992937 | PROP1 | c.84C>T (p.Ala28=) | gnomAD v4 |
| 5 | g.177995850G>C | CA447992940 | PROP1 | c.84C>G (p.Ala28=) | |
| 5 | g.177995850G>T | CA447992942 | PROP1 | c.84C>A (p.Ala28=) | |
| 5 | g.177995851G>A | CA132899331 | PROP1 | c.83C>T (p.Ala28Val) | dbSNP |
| 5 | g.177995851G>C | CA362379462 | PROP1 | c.83C>G (p.Ala28Gly) | |
| 5 | g.177995851G= | CA1603815342 | PROP1 | c.83C= (p.Ala28=) | |
| 5 | g.177995851G>T | CA362379463 | PROP1 | c.83C>A (p.Ala28Asp) | gnomAD v4 |
| 5 | g.177995852C>A | CA362379464 | PROP1 | c.82G>T (p.Ala28Ser) | |
| 5 | g.177995852C>G | CA362379465 | PROP1 | c.82G>C (p.Ala28Pro) | |
| 5 | g.177995852C>T | CA362379466 | PROP1 | c.82G>A (p.Ala28Thr) | |
| 5 | g.177995853C>A | CA447992951 | PROP1 | c.81G>T (p.Pro27=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995853C= | CA1603815343 | PROP1 | c.81G= (p.Pro27=) | |
| 5 | g.177995853C>G | CA447992953 | PROP1 | c.81G>C (p.Pro27=) | |
| 5 | g.177995853C>T | CA3587646 | PROP1 | c.81G>A (p.Pro27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995854G>A | CA3587647 | PROP1 | c.80C>T (p.Pro27Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995854G>C | CA362379467 | PROP1 | c.80C>G (p.Pro27Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995854G= | CA1603815344 | PROP1 | c.80C= (p.Pro27=) | |
| 5 | g.177995854G>T | CA362379468 | PROP1 | c.80C>A (p.Pro27Gln) | |
| 5 | g.177995855G>A | CA132899362 | PROP1 | c.79C>T (p.Pro27Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995855G>C | CA3587648 | PROP1 | c.79C>G (p.Pro27Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995855G= | CA1603815345 | PROP1 | c.79C= (p.Pro27=) | |
| 5 | g.177995855G>T | CA362379469 | PROP1 | c.79C>A (p.Pro27Thr) | gnomAD v4 |
| 5 | g.177995856G>A | CA447992964 | PROP1 | c.78C>T (p.His26=) | |
| 5 | g.177995856G>C | CA362379470 | PROP1 | c.78C>G (p.His26Gln) | |
| 5 | g.177995856G>T | CA362379471 | PROP1 | c.78C>A (p.His26Gln) | |
| 5 | g.177995857T>A | CA362379472 | PROP1 | c.77A>T (p.His26Leu) | |
| 5 | g.177995857T>C | CA362379473 | PROP1 | c.77A>G (p.His26Arg) | |
| 5 | g.177995857T>G | CA362379474 | PROP1 | c.77A>C (p.His26Pro) | |
| 5 | g.177995858G>A | CA362379475 | PROP1 | c.76C>T (p.His26Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995858G>C | CA362379476 | PROP1 | c.76C>G (p.His26Asp) | |
| 5 | g.177995858G= | CA1603815346 | PROP1 | c.76C= (p.His26=) | |
| 5 | g.177995858G>T | CA362379477 | PROP1 | c.76C>A (p.His26Asn) | |
| 5 | g.177995858dup | CA913108657 | PROP1 | c.76dup (p.His26ProfsTer?) | |
| 5 | g.177995859T>A | CA362379478 | PROP1 | c.75A>T (p.Arg25Ser) | |
| 5 | g.177995859T>C | CA447992977 | PROP1 | c.75A>G (p.Arg25=) | gnomAD v4 |
| 5 | g.177995859T>G | CA362379479 | PROP1 | c.75A>C (p.Arg25Ser) | |
| 5 | g.177995863_177995864dup | CA658822674 | PROP1 | c.74_75dup (p.His26AspfsTer?) | ClinVar dbSNP |
| 5 | g.177995860C>A | CA362379480 | PROP1 | c.74G>T (p.Arg25Ile) | |
| 5 | g.177995860C= | CA1603815347 | PROP1 | c.74G= (p.Arg25=) | |
| 5 | g.177995860C>G | CA362379481 | PROP1 | c.74G>C (p.Arg25Thr) | |
| 5 | g.177995860C>T | CA362379482 | PROP1 | c.74G>A (p.Arg25Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177995861T>A | CA362379484 | PROP1 | c.73A>T (p.Arg25Ter) | |
| 5 | g.177995861T>C | CA362379483 | PROP1 | c.73A>G (p.Arg25Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177995861T>G | CA447992985 | PROP1 | c.73A>C (p.Arg25=) | |
| 5 | g.177995861T= | CA1603815348 | PROP1 | c.73A= (p.Arg25=) | |
| 5 | g.177995862C>A | CA362379485 | PROP1 | c.72G>T (p.Glu24Asp) | |
| 5 | g.177995862C>G | CA362379486 | PROP1 | c.72G>C (p.Glu24Asp) | gnomAD v4 |
| 5 | g.177995862C>T | CA447992989 | PROP1 | c.72G>A (p.Glu24=) | |
| 5 | g.177995863T>A | CA362379487 | PROP1 | c.71A>T (p.Glu24Val) | |
| 5 | g.177995863T>C | CA362379488 | PROP1 | c.71A>G (p.Glu24Gly) | gnomAD v4 |
| 5 | g.177995863T>G | CA362379489 | PROP1 | c.71A>C (p.Glu24Ala) | |
| 5 | g.177995864C>A | CA362379490 | PROP1 | c.70G>T (p.Glu24Ter) | |
| 5 | g.177995864C>G | CA362379491 | PROP1 | c.70G>C (p.Glu24Gln) | |
| 5 | g.177995864C>T | CA362379492 | PROP1 | c.70G>A (p.Glu24Lys) | |
| 5 | g.177995865A>C | CA447993000 | PROP1 | c.69T>G (p.Pro23=) | |
| 5 | g.177995865A>G | CA447993002 | PROP1 | c.69T>C (p.Pro23=) | |
| 5 | g.177995865A>T | CA447993004 | PROP1 | c.69T>A (p.Pro23=) | |
| 5 | g.177995866G>A | CA3587649 | PROP1 | c.68C>T (p.Pro23Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995866G>C | CA362379493 | PROP1 | c.68C>G (p.Pro23Arg) | |
| 5 | g.177995866G= | CA1603815349 | PROP1 | c.68C= (p.Pro23=) | |
| 5 | g.177995866G>T | CA362379494 | PROP1 | c.68C>A (p.Pro23His) | gnomAD v4 |
| 5 | g.177995867G>A | CA362379495 | PROP1 | c.67C>T (p.Pro23Ser) | |
| 5 | g.177995867G>C | CA362379496 | PROP1 | c.67C>G (p.Pro23Ala) | |
| 5 | g.177995867G>T | CA362379497 | PROP1 | c.67C>A (p.Pro23Thr) | |
| 5 | g.177995868C>A | CA362379499 | PROP1 | c.66G>T (p.Leu22Phe) | |
| 5 | g.177995868C= | CA1603815350 | PROP1 | c.66G= (p.Leu22=) | |
| 5 | g.177995868C>G | CA362379498 | PROP1 | c.66G>C (p.Leu22Phe) | |
| 5 | g.177995868C>T | CA447993017 | PROP1 | c.66G>A (p.Leu22=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995869A= | CA1603815351 | PROP1 | c.65T= (p.Leu22=) | |
| 5 | g.177995869A>C | CA362379500 | PROP1 | c.65T>G (p.Leu22Trp) | dbSNP |
| 5 | g.177995869A>G | CA362379502 | PROP1 | c.65T>C (p.Leu22Ser) | |
| 5 | g.177995869A>T | CA362379501 | PROP1 | c.65T>A (p.Leu22Ter) | |
| 5 | g.177995870A= | CA1603815353 | PROP1 | c.64T= (p.Leu22=) | |
| 5 | g.177995870A>C | CA362379503 | PROP1 | c.64T>G (p.Leu22Val) | |
| 5 | g.177995870A>G | CA447993024 | PROP1 | c.64T>C (p.Leu22=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995870A>T | CA362379504 | PROP1 | c.64T>A (p.Leu22Met) | |
| 5 | g.177995870_177995871delinsAC | CA1603815352 | PROP1 | c.63_64delinsGT (p.Leu21=) | |
| 5 | g.177995871del | CA3587650 | PROP1 | c.63del (p.Leu22CysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995871C>A | CA447993034 | PROP1 | c.63G>T (p.Leu21=) | ClinVar |
| 5 | g.177995871C>G | CA447993032 | PROP1 | c.63G>C (p.Leu21=) | |
| 5 | g.177995871C>T | CA447993030 | PROP1 | c.63G>A (p.Leu21=) | ClinVar gnomAD v4 COSMIC |
| 5 | g.177995872A>C | CA362379507 | PROP1 | c.62T>G (p.Leu21Arg) | |
| 5 | g.177995872A>G | CA362379505 | PROP1 | c.62T>C (p.Leu21Pro) | |
| 5 | g.177995872A>T | CA362379506 | PROP1 | c.62T>A (p.Leu21Gln) | |
| 5 | g.177995873G>A | CA447993039 | PROP1 | c.61C>T (p.Leu21=) | |
| 5 | g.177995873G>C | CA362379508 | PROP1 | c.61C>G (p.Leu21Val) | |
| 5 | g.177995873G>T | CA362379509 | PROP1 | c.61C>A (p.Leu21Met) | |
| 5 | g.177995874G>A | CA447993046 | PROP1 | c.60C>T (p.Asn20=) c.60C>T (p.Ser20=) | |
| 5 | g.177995874G>C | CA362379510 | PROP1 | c.60C>G (p.Asn20Lys) c.60C>G (p.Ser20Arg) | gnomAD v4 |
| 5 | g.177995874G>T | CA362379511 | PROP1 | c.60C>A (p.Asn20Lys) c.60C>A (p.Ser20Arg) | |
| 5 | g.177995875T>A | CA362379512 | PROP1 | c.59A>T (p.Asn20Ile) | dbSNP gnomAD v4 |
| 5 | g.177995875T>C | CA3587651 | PROP1 | c.59A>G (p.Asn20Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995875T>G | CA362379513 | PROP1 | c.59A>C (p.Asn20Thr) | |
| 5 | g.177995875T= | CA1603815354 | PROP1 | c.59A= (p.Asn20=) | |
| 5 | g.177995876T>A | CA362379514 | PROP1 | c.58A>T (p.Asn20Tyr) c.58A>T (p.Ser20Cys) | |
| 5 | g.177995876T>C | CA362379515 | PROP1 | c.58A>G (p.Asn20Asp) c.58A>G (p.Ser20Gly) | gnomAD v4 |
| 5 | g.177995876T>G | CA362379516 | PROP1 | c.58A>C (p.Asn20His) c.58A>C (p.Ser20Arg) | |
| 5 | g.177995877G>A | CA447993055 | PROP1 | c.57C>T (p.Ser19=) | |
| 5 | g.177995877G>C | CA362379518 | PROP1 | c.57C>G (p.Ser19Arg) | ClinVar dbSNP |
| 5 | g.177995877G= | CA1603815355 | PROP1 | c.57C= (p.Ser19=) | |
| 5 | g.177995877G>T | CA362379517 | PROP1 | c.57C>A (p.Ser19Arg) | |
| 5 | g.177995878C>A | CA362379519 | PROP1 | c.56G>T (p.Ser19Ile) | |
| 5 | g.177995878C>G | CA362379520 | PROP1 | c.56G>C (p.Ser19Thr) | |
| 5 | g.177995878C>T | CA362379521 | PROP1 | c.56G>A (p.Ser19Asn) | |
| 5 | g.177995879T>A | CA362379522 | PROP1 | c.55A>T (p.Ser19Cys) | |
| 5 | g.177995879T>C | CA362379523 | PROP1 | c.55A>G (p.Ser19Gly) | |
| 5 | g.177995879T>G | CA362379524 | PROP1 | c.55A>C (p.Ser19Arg) | |
| 5 | g.177995880G>A | CA447993065 | PROP1 | c.54C>T (p.Gly18=) | ClinVar |
| 5 | g.177995880G>C | CA447993066 | PROP1 | c.54C>G (p.Gly18=) | gnomAD v4 |
| 5 | g.177995880G>T | CA447993067 | PROP1 | c.54C>A (p.Gly18=) | |
| 5 | g.177995881C>A | CA362379525 | PROP1 | c.53G>T (p.Gly18Val) | |
| 5 | g.177995881C>G | CA362379526 | PROP1 | c.53G>C (p.Gly18Ala) | |
| 5 | g.177995881C>T | CA362379527 | PROP1 | c.53G>A (p.Gly18Asp) | |
| 5 | g.177995882del | CA2676774314 | PROP1 | c.53del (p.Gly18AlafsTer?) | gnomAD v4 |
| 5 | g.177995882C>A | CA362379528 | PROP1 | c.52G>T (p.Gly18Cys) | |
| 5 | g.177995882C= | CA1603815356 | PROP1 | c.52G= (p.Gly18=) | |
| 5 | g.177995882C>G | CA362379529 | PROP1 | c.52G>C (p.Gly18Arg) | |
| 5 | g.177995882C>T | CA3587652 | PROP1 | c.52G>A (p.Gly18Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177995883G>A | CA3587653 | PROP1 | c.51C>T (p.Val17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995883G>C | CA447993068 | PROP1 | c.51C>G (p.Val17=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995883G= | CA1603815357 | PROP1 | c.51C= (p.Val17=) | |
| 5 | g.177995883G>T | CA447993069 | PROP1 | c.51C>A (p.Val17=) | gnomAD v4 COSMIC |
| 5 | g.177995884A>C | CA362379532 | PROP1 | c.50T>G (p.Val17Gly) | gnomAD v3 gnomAD v4 |
| 5 | g.177995884A>G | CA362379530 | PROP1 | c.50T>C (p.Val17Ala) | gnomAD v4 |
| 5 | g.177995884A>T | CA362379531 | PROP1 | c.50T>A (p.Val17Asp) | |
| 5 | g.177995885C>A | CA362379533 | PROP1 | c.49G>T (p.Val17Phe) | |
| 5 | g.177995885C>G | CA362379534 | PROP1 | c.49G>C (p.Val17Leu) | |
| 5 | g.177995885C>T | CA362379535 | PROP1 | c.49G>A (p.Val17Ile) | |
| 5 | g.177995886T>A | CA447993076 | PROP1 | c.48A>T (p.Arg16=) | |
| 5 | g.177995886T>C | CA447993080 | PROP1 | c.48A>G (p.Arg16=) | |
| 5 | g.177995886T>G | CA447993078 | PROP1 | c.48A>C (p.Arg16=) | |
| 5 | g.177995887C>A | CA362379536 | PROP1 | c.47G>T (p.Arg16Leu) | |
| 5 | g.177995887C= | CA1603815358 | PROP1 | c.47G= (p.Arg16=) | |
| 5 | g.177995887C>G | CA362379537 | PROP1 | c.47G>C (p.Arg16Pro) | |
| 5 | g.177995887C>T | CA132899387 | PROP1 | c.47G>A (p.Arg16Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995888G>A | CA214192 | PROP1 | c.46C>T (p.Arg16Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177995888G>C | CA3587654 | PROP1 | c.46C>G (p.Arg16Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995888G= | CA1603815359 | PROP1 | c.46C= (p.Arg16=) | |
| 5 | g.177995888G>T | CA447993088 | PROP1 | c.46C>A (p.Arg16=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995889C>A | CA3587655 | PROP1 | c.45G>T (p.Gly15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995889C= | CA1603815360 | PROP1 | c.45G= (p.Gly15=) | |
| 5 | g.177995889C>G | CA447993092 | PROP1 | c.45G>C (p.Gly15=) | |
| 5 | g.177995889C>T | CA447993094 | PROP1 | c.45G>A (p.Gly15=) | |
| 5 | g.177995890C>A | CA362379540 | PROP1 | c.44G>T (p.Gly15Val) | |
| 5 | g.177995890C>G | CA362379539 | PROP1 | c.44G>C (p.Gly15Ala) | |
| 5 | g.177995890C>T | CA362379538 | PROP1 | c.44G>A (p.Gly15Glu) | gnomAD v4 |
| 5 | g.177995891C>A | CA3587656 | PROP1 | c.43G>T (p.Gly15Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995891C= | CA1603815362 | PROP1 | c.43G= (p.Gly15=) | |
| 5 | g.177995891C>G | CA362379541 | PROP1 | c.43G>C (p.Gly15Arg) | |
| 5 | g.177995891C>T | CA362379542 | PROP1 | c.43G>A (p.Gly15Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995891_177995894delinsCCTT | CA1603815361 | PROP1 | c.40_43delinsAAGG (p.Lys14=) | |
| 5 | g.177995892_177995895del | CA913108658 | PROP1 | c.40_43del (p.Lys14GlyfsTer?) | |
| 5 | g.177995892C>A | CA362379543 | PROP1 | c.42G>T (p.Lys14Asn) | |
| 5 | g.177995892C>G | CA362379544 | PROP1 | c.42G>C (p.Lys14Asn) | |
| 5 | g.177995892C>T | CA447993105 | PROP1 | c.42G>A (p.Lys14=) | |
| 5 | g.177995895_177995897del | CA658822675 | PROP1 | c.40_42del (p.Lys14del) | ClinVar dbSNP |
| 5 | g.177995893T>A | CA362379545 | PROP1 | c.41A>T (p.Lys14Met) | |
| 5 | g.177995893T>C | CA362379546 | PROP1 | c.41A>G (p.Lys14Arg) | gnomAD v4 |
| 5 | g.177995893T>G | CA362379547 | PROP1 | c.41A>C (p.Lys14Thr) | |
| 5 | g.177995894T>A | CA362379548 | PROP1 | c.40A>T (p.Lys14Ter) | |
| 5 | g.177995894T>C | CA362379549 | PROP1 | c.40A>G (p.Lys14Glu) | |
| 5 | g.177995894T>G | CA362379550 | PROP1 | c.40A>C (p.Lys14Gln) | |
| 5 | g.177995895C>A | CA362379551 | PROP1 | c.39G>T (p.Lys13Asn) | |
| 5 | g.177995895C>G | CA362379552 | PROP1 | c.39G>C (p.Lys13Asn) | |
| 5 | g.177995895C>T | CA447993114 | PROP1 | c.39G>A (p.Lys13=) | ClinVar |
| 5 | g.177995896T>A | CA362379554 | PROP1 | c.38A>T (p.Lys13Met) | |
| 5 | g.177995896T>C | CA362379555 | PROP1 | c.38A>G (p.Lys13Arg) | |
| 5 | g.177995896T>G | CA362379553 | PROP1 | c.38A>C (p.Lys13Thr) | |
| 5 | g.177995897T>A | CA362379558 | PROP1 | c.37A>T (p.Lys13Ter) | |
| 5 | g.177995897T>C | CA362379556 | PROP1 | c.37A>G (p.Lys13Glu) | |
| 5 | g.177995897T>G | CA362379557 | PROP1 | c.37A>C (p.Lys13Gln) | |
| 5 | g.177995898T>A | CA447993120 | PROP1 | c.36A>T (p.Pro12=) | |
| 5 | g.177995898T>C | CA3587657 | PROP1 | c.36A>G (p.Pro12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995898T>G | CA447993123 | PROP1 | c.36A>C (p.Pro12=) | |
| 5 | g.177995898T= | CA1603815363 | PROP1 | c.36A= (p.Pro12=) | |
| 5 | g.177995899G>A | CA362379559 | PROP1 | c.35C>T (p.Pro12Leu) | |
| 5 | g.177995899G>C | CA362379560 | PROP1 | c.35C>G (p.Pro12Arg) | |
| 5 | g.177995899G>T | CA362379561 | PROP1 | c.35C>A (p.Pro12Gln) | |
| 5 | g.177995900G>A | CA362379562 | PROP1 | c.34C>T (p.Pro12Ser) | |
| 5 | g.177995900G>C | CA362379563 | PROP1 | c.34C>G (p.Pro12Ala) | |
| 5 | g.177995900G>T | CA362379564 | PROP1 | c.34C>A (p.Pro12Thr) | |
| 5 | g.177995901C>A | CA362379565 | PROP1 | c.33G>T (p.Lys11Asn) | |
| 5 | g.177995901C>G | CA362379566 | PROP1 | c.33G>C (p.Lys11Asn) | |
| 5 | g.177995901C>T | CA447993135 | PROP1 | c.33G>A (p.Lys11=) | |
| 5 | g.177995901_177995902delinsCT | CA1603815364 | PROP1 | c.32_33delinsAG (p.Lys11=) | |
| 5 | g.177995902T>A | CA362379569 | PROP1 | c.32A>T (p.Lys11Met) | |
| 5 | g.177995902T>C | CA362379568 | PROP1 | c.32A>G (p.Lys11Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995902T>G | CA362379567 | PROP1 | c.32A>C (p.Lys11Thr) | gnomAD v4 |
| 5 | g.177995902T= | CA1603815365 | PROP1 | c.32A= (p.Lys11=) | |
| 5 | g.177995903del | CA3587658 | PROP1 | c.32del (p.Lys11SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995903T>A | CA362379570 | PROP1 | c.31A>T (p.Lys11Ter) | |
| 5 | g.177995903T>C | CA362379571 | PROP1 | c.31A>G (p.Lys11Glu) | |
| 5 | g.177995903T>G | CA362379572 | PROP1 | c.31A>C (p.Lys11Gln) | |
| 5 | g.177995904C>A | CA362379573 | PROP1 | c.30G>T (p.Glu10Asp) | |
| 5 | g.177995904C>G | CA362379574 | PROP1 | c.30G>C (p.Glu10Asp) | |
| 5 | g.177995904C>T | CA447993147 | PROP1 | c.30G>A (p.Glu10=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995905T>A | CA362379575 | PROP1 | c.29A>T (p.Glu10Val) | |
| 5 | g.177995905T>C | CA362379576 | PROP1 | c.29A>G (p.Glu10Gly) | |
| 5 | g.177995905T>G | CA362379577 | PROP1 | c.29A>C (p.Glu10Ala) | |
| 5 | g.177995905_177995913delinsTCAGCCTGG | CA1603815366 | PROP1 | c.21_29delinsCCAGGCTGA (p.Arg7=) | |
| 5 | g.177995906C>A | CA362379578 | PROP1 | c.28G>T (p.Glu10Ter) | |
| 5 | g.177995906C= | CA1603815367 | PROP1 | c.28G= (p.Glu10=) | |
| 5 | g.177995906C>G | CA362379579 | PROP1 | c.28G>C (p.Glu10Gln) | |
| 5 | g.177995906C>T | CA3587659 | PROP1 | c.28G>A (p.Glu10Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177995907_177995914del | CA564507514 | PROP1 | c.21_28del (p.Gln8GlufsTer14) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995907A= | CA1603815368 | PROP1 | c.27T= (p.Ala9=) | |
| 5 | g.177995907A>C | CA447993156 | PROP1 | c.27T>G (p.Ala9=) | |
| 5 | g.177995907A>G | CA3587660 | PROP1 | c.27T>C (p.Ala9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995907A>T | CA447993159 | PROP1 | c.27T>A (p.Ala9=) | dbSNP |
| 5 | g.177995908G>A | CA362379582 | PROP1 | c.26C>T (p.Ala9Val) | |
| 5 | g.177995908G>C | CA362379581 | PROP1 | c.26C>G (p.Ala9Gly) | |
| 5 | g.177995908G>T | CA362379580 | PROP1 | c.26C>A (p.Ala9Asp) | |
| 5 | g.177995909C>A | CA362379583 | PROP1 | c.25G>T (p.Ala9Ser) | |
| 5 | g.177995909C>G | CA362379584 | PROP1 | c.25G>C (p.Ala9Pro) | |
| 5 | g.177995909C>T | CA362379585 | PROP1 | c.25G>A (p.Ala9Thr) | |
| 5 | g.177995910C>A | CA362379586 | PROP1 | c.24G>T (p.Gln8His) | |
| 5 | g.177995910C>G | CA362379587 | PROP1 | c.24G>C (p.Gln8His) | |
| 5 | g.177995910C>T | CA447993171 | PROP1 | c.24G>A (p.Gln8=) | |
| 5 | g.177995911T>A | CA362379590 | PROP1 | c.23A>T (p.Gln8Leu) | |
| 5 | g.177995911T>C | CA362379589 | PROP1 | c.23A>G (p.Gln8Arg) | |
| 5 | g.177995911T>G | CA362379588 | PROP1 | c.23A>C (p.Gln8Pro) | |
| 5 | g.177995911T= | CA1603815369 | PROP1 | c.23A= (p.Gln8=) | |
| 5 | g.177995911dup | CA913108659 | PROP1 | c.23dup (p.Ala9GlyfsTer2) | |
| 5 | g.177995912G>A | CA362379591 | PROP1 | c.22C>T (p.Gln8Ter) | |
| 5 | g.177995912G>C | CA362379592 | PROP1 | c.22C>G (p.Gln8Glu) | |
| 5 | g.177995912G>T | CA362379593 | PROP1 | c.22C>A (p.Gln8Lys) | |
| 5 | g.177995913_177995915dup | CA658822676 | PROP1 | c.20_22dup (p.Arg7_Gln8insArg) | ClinVar dbSNP |
| 5 | g.177995913G>A | CA447993180 | PROP1 | c.21C>T (p.Arg7=) | |
| 5 | g.177995913G>C | CA447993182 | PROP1 | c.21C>G (p.Arg7=) | |
| 5 | g.177995913G>T | CA447993184 | PROP1 | c.21C>A (p.Arg7=) | |
| 5 | g.177995914C>A | CA362379594 | PROP1 | c.20G>T (p.Arg7Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995914C= | CA1603815370 | PROP1 | c.20G= (p.Arg7=) | |
| 5 | g.177995914C>G | CA362379595 | PROP1 | c.20G>C (p.Arg7Pro) | |
| 5 | g.177995914C>T | CA3587661 | PROP1 | c.20G>A (p.Arg7His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.177995915G>A | CA3587662 | PROP1 | c.19C>T (p.Arg7Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177995915G>C | CA362379596 | PROP1 | c.19C>G (p.Arg7Gly) | dbSNP |
| 5 | g.177995915G= | CA1603815371 | PROP1 | c.19C= (p.Arg7=) | |
| 5 | g.177995915G>T | CA3587663 | PROP1 | c.19C>A (p.Arg7Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995916C>A | CA362379597 | PROP1 | c.18G>T (p.Arg6Ser) | |
| 5 | g.177995916C>G | CA362379598 | PROP1 | c.18G>C (p.Arg6Ser) | |
| 5 | g.177995916C>T | CA447993194 | PROP1 | c.18G>A (p.Arg6=) | |
| 5 | g.177995917C>A | CA362379599 | PROP1 | c.17G>T (p.Arg6Met) | |
| 5 | g.177995917C>G | CA362379600 | PROP1 | c.17G>C (p.Arg6Thr) | |
| 5 | g.177995917C>T | CA362379601 | PROP1 | c.17G>A (p.Arg6Lys) | |
| 5 | g.177995918T>A | CA362379602 | PROP1 | c.16A>T (p.Arg6Trp) | |
| 5 | g.177995918T>C | CA362379603 | PROP1 | c.16A>G (p.Arg6Gly) | |
| 5 | g.177995918T>G | CA447993204 | PROP1 | c.16A>C (p.Arg6=) | |
| 5 | g.177995919C>A | CA362379604 | PROP1 | c.15G>T (p.Arg5Ser) | |
| 5 | g.177995919C= | CA1603815372 | PROP1 | c.15G= (p.Arg5=) | |
| 5 | g.177995919C>G | CA362379605 | PROP1 | c.15G>C (p.Arg5Ser) | |
| 5 | g.177995919C>T | CA447993209 | PROP1 | c.15G>A (p.Arg5=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995920C>A | CA362379606 | PROP1 | c.14G>T (p.Arg5Met) | gnomAD v4 |
| 5 | g.177995920C>G | CA362379607 | PROP1 | c.14G>C (p.Arg5Thr) | |
| 5 | g.177995920C>T | CA362379608 | PROP1 | c.14G>A (p.Arg5Lys) | |
| 5 | g.177995921T>A | CA362379610 | PROP1 | c.13A>T (p.Arg5Trp) | |
| 5 | g.177995921T>C | CA362379609 | PROP1 | c.13A>G (p.Arg5Gly) | |
| 5 | g.177995921T>G | CA447993218 | PROP1 | c.13A>C (p.Arg5=) | |
| 5 | g.177995922T>A | CA362379611 | PROP1 | c.12A>T (p.Glu4Asp) | |
| 5 | g.177995922T>C | CA447993221 | PROP1 | c.12A>G (p.Glu4=) | |
| 5 | g.177995922T>G | CA362379612 | PROP1 | c.12A>C (p.Glu4Asp) | |
| 5 | g.177995923T>A | CA362379613 | PROP1 | c.11A>T (p.Glu4Val) | |
| 5 | g.177995923T>C | CA362379615 | PROP1 | c.11A>G (p.Glu4Gly) | |
| 5 | g.177995923T>G | CA362379614 | PROP1 | c.11A>C (p.Glu4Ala) | |
| 5 | g.177995924C>A | CA362379616 | PROP1 | c.10G>T (p.Glu4Ter) | |
| 5 | g.177995924C>G | CA362379617 | PROP1 | c.10G>C (p.Glu4Gln) | |
| 5 | g.177995924C>T | CA362379618 | PROP1 | c.10G>A (p.Glu4Lys) | |
| 5 | g.177995925T>A | CA447993231 | PROP1 | c.9A>T (p.Ala3=) | |
| 5 | g.177995925T>C | CA447993233 | PROP1 | c.9A>G (p.Ala3=) | ClinVar dbSNP |
| 5 | g.177995925T>G | CA447993235 | PROP1 | c.9A>C (p.Ala3=) | |
| 5 | g.177995926G>A | CA362379619 | PROP1 | c.8C>T (p.Ala3Val) | COSMIC |
| 5 | g.177995926G>C | CA362379620 | PROP1 | c.8C>G (p.Ala3Gly) | |
| 5 | g.177995926G>T | CA362379621 | PROP1 | c.8C>A (p.Ala3Glu) | |
| 5 | g.177995927C>A | CA362379622 | PROP1 | c.7G>T (p.Ala3Ser) | |
| 5 | g.177995927C= | CA1603815373 | PROP1 | c.7G= (p.Ala3=) | |
| 5 | g.177995927C>G | CA362379623 | PROP1 | c.7G>C (p.Ala3Pro) | |
| 5 | g.177995927C>T | CA3587664 | PROP1 | c.7G>A (p.Ala3Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995928T>A | CA362379624 | PROP1 | c.6A>T (p.Glu2Asp) | |
| 5 | g.177995928T>C | CA447993247 | PROP1 | c.6A>G (p.Glu2=) | ClinVar dbSNP |
| 5 | g.177995928T>G | CA362379625 | PROP1 | c.6A>C (p.Glu2Asp) | |
| 5 | g.177995929T>A | CA362379628 | PROP1 | c.5A>T (p.Glu2Val) | |
| 5 | g.177995929T>C | CA362379627 | PROP1 | c.5A>G (p.Glu2Gly) | |
| 5 | g.177995929T>G | CA362379626 | PROP1 | c.5A>C (p.Glu2Ala) | |
| 5 | g.177995930C>A | CA362379629 | PROP1 | c.4G>T (p.Glu2Ter) | |
| 5 | g.177995930C>G | CA362379630 | PROP1 | c.4G>C (p.Glu2Gln) | |
| 5 | g.177995930C>T | CA362379631 | PROP1 | c.4G>A (p.Glu2Lys) | |
| 5 | g.177995931C>A | CA362379632 | PROP1 | c.3G>T (p.Met1Ile) | |
| 5 | g.177995931C= | CA1603815374 | PROP1 | c.3G= (p.Met1=) | |
| 5 | g.177995931C>G | CA16621521 | PROP1 | c.3G>C (p.Met1Ile) | ClinVar dbSNP |
| 5 | g.177995931C>T | CA362379633 | PROP1 | c.3G>A (p.Met1Ile) | gnomAD v4 |
| 5 | g.177995932A= | CA1603815375 | PROP1 | c.2T= (p.Met1=) | |
| 5 | g.177995932A>C | CA362379634 | PROP1 | c.2T>G (p.Met1Arg) | |
| 5 | g.177995932A>G | CA362379635 | PROP1 | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177995932A>T | CA362379636 | PROP1 | c.2T>A (p.Met1Lys) | |
| 5 | g.177995933T>A | CA362379637 | PROP1 | c.1A>T (p.Met1Leu) | |
| 5 | g.177995933T>C | CA362379638 | PROP1 | c.1A>G (p.Met1Val) | ClinVar gnomAD v4 |
| 5 | g.177995933T>G | CA362379639 | PROP1 | c.1A>C (p.Met1Leu) | |
| 5 | g.177995934G>A | CA2676774324 | PROP1 | c.-1C>T (n.-1C>T) | gnomAD v4 |
| 5 | g.177995935G>A | CA2676774325 | PROP1 | c.-2C>T (n.-2C>T) | gnomAD v4 |
| 5 | g.177995935G>T | CA2676774326 | PROP1 | c.-2C>A (n.-2C>A) | gnomAD v4 |
| 5 | g.177995937T>C | CA2676774327 | PROP1 | c.-4A>G (n.-4A>G) | gnomAD v4 |
| 5 | g.177995937T>G | CA2676774328 | PROP1 | c.-4A>C (n.-4A>C) | gnomAD v4 |
| 5 | g.177995938C>A | CA2676774329 | PROP1 | c.-5G>T (n.-5G>T) | gnomAD v4 |
| 5 | g.177995938C= | CA1603815376 | PROP1 | c.-5G= (n.-5G=) | |
| 5 | g.177995938C>T | CA3587665 | PROP1 | c.-5G>A (n.-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177995939G>A | CA564507515 | PROP1 | c.-6C>T (n.-6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995939G= | CA1603815377 | PROP1 | c.-6C= (n.-6C=) | |
| 5 | g.177995939G>T | CA3587666 | PROP1 | c.-6C>A (n.-6C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177995940C= | CA1603815378 | PROP1 | c.-7G= (n.-7G=) | |
| 5 | g.177995940C>T | CA564507516 | PROP1 | c.-7G>A (n.-7G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177995941del | CA2676774330 | PROP1 | c.-7del (n.-7del) | gnomAD v4 |
| 5 | g.177995941C= | CA1603815379 | PROP1 | c.-8G= (n.-8G=) | |
| 5 | g.177995941C>T | CA1603815380 | PROP1 | c.-8G>A (n.-8G>A) | dbSNP gnomAD v4 |