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 |
|---|---|---|---|---|---|
| 17 | g.59697530_59697536dup | CA2639061181 | PTRH2 | c.444_450dup (p.Ile151TyrfsTer22) c.447_453dup (p.Ile152TyrfsTer22) n.45+9836_45+9842dup | gnomAD v4 |
| 17 | g.59697532A>C | CA501331331 | PTRH2 | c.447T>G (p.Thr149=) c.450T>G (p.Thr150=) n.45+9839T>G | |
| 17 | g.59697532A>G | CA501331333 | PTRH2 | c.447T>C (p.Thr149=) c.450T>C (p.Thr150=) n.45+9839T>C | |
| 17 | g.59697532A>T | CA501331332 | PTRH2 | c.447T>A (p.Thr149=) c.450T>A (p.Thr150=) n.45+9839T>A | |
| 17 | g.59697533G>A | CA400428677 | PTRH2 | c.446C>T (p.Thr149Ile) c.449C>T (p.Thr150Ile) n.45+9838C>T | |
| 17 | g.59697533G>C | CA400428678 | PTRH2 | c.446C>G (p.Thr149Ser) c.449C>G (p.Thr150Ser) n.45+9838C>G | |
| 17 | g.59697533G>T | CA400428679 | PTRH2 | c.446C>A (p.Thr149Asn) c.449C>A (p.Thr150Asn) n.45+9838C>A | |
| 17 | g.59697534T>A | CA400428682 | PTRH2 | c.445A>T (p.Thr149Ser) c.448A>T (p.Thr150Ser) n.45+9837A>T | |
| 17 | g.59697534T>C | CA400428687 | PTRH2 | c.445A>G (p.Thr149Ala) c.448A>G (p.Thr150Ala) n.45+9837A>G | COSMIC |
| 17 | g.59697534T>G | CA400428684 | PTRH2 | c.445A>C (p.Thr149Pro) c.448A>C (p.Thr150Pro) n.45+9837A>C | |
| 17 | g.59697535A>C | CA501331336 | PTRH2 | c.444T>G (p.Arg148=) c.447T>G (p.Arg149=) n.45+9836T>G | |
| 17 | g.59697535A>G | CA501331338 | PTRH2 | c.444T>C (p.Arg148=) c.447T>C (p.Arg149=) n.45+9836T>C | |
| 17 | g.59697535A>T | CA501331337 | PTRH2 | c.444T>A (p.Arg148=) c.447T>A (p.Arg149=) n.45+9836T>A | |
| 17 | g.59697536C>A | CA8681898 | PTRH2 | c.443G>T (p.Arg148Leu) c.446G>T (p.Arg149Leu) n.45+9835G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697536C= | CA2268261656 | PTRH2 | c.443G= (p.Arg148=) c.446G= (p.Arg149=) n.45+9835G= | |
| 17 | g.59697536C>G | CA400428698 | PTRH2 | c.443G>C (p.Arg148Pro) c.446G>C (p.Arg149Pro) n.45+9835G>C | |
| 17 | g.59697536C>T | CA8681897 | PTRH2 | c.443G>A (p.Arg148His) c.446G>A (p.Arg149His) n.45+9835G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697537G>A | CA8681899 | PTRH2 | c.442C>T (p.Arg148Cys) c.445C>T (p.Arg149Cys) n.45+9834C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697537G>C | CA400428705 | PTRH2 | c.442C>G (p.Arg148Gly) c.445C>G (p.Arg149Gly) n.45+9834C>G | |
| 17 | g.59697537G= | CA2268261657 | PTRH2 | c.442C= (p.Arg148=) c.445C= (p.Arg149=) n.45+9834C= | |
| 17 | g.59697537G>T | CA400428707 | PTRH2 | c.442C>A (p.Arg148Ser) c.445C>A (p.Arg149Ser) n.45+9834C>A | |
| 17 | g.59697538T>A | CA501331342 | PTRH2 | c.441A>T (p.Gly147=) c.444A>T (p.Gly148=) n.45+9833A>T | |
| 17 | g.59697538T>C | CA501331341 | PTRH2 | c.441A>G (p.Gly147=) c.444A>G (p.Gly148=) n.45+9833A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697538T>G | CA501331340 | PTRH2 | c.441A>C (p.Gly147=) c.444A>C (p.Gly148=) n.45+9833A>C | |
| 17 | g.59697538T= | CA2268261658 | PTRH2 | c.441A= (p.Gly147=) c.444A= (p.Gly148=) n.45+9833A= | |
| 17 | g.59697539C>A | CA400428709 | PTRH2 | c.440G>T (p.Gly147Val) c.443G>T (p.Gly148Val) n.45+9832G>T | |
| 17 | g.59697539C>G | CA400428711 | PTRH2 | c.440G>C (p.Gly147Ala) c.443G>C (p.Gly148Ala) n.45+9832G>C | |
| 17 | g.59697539C>T | CA400428714 | PTRH2 | c.440G>A (p.Gly147Glu) c.443G>A (p.Gly148Glu) n.45+9832G>A | |
| 17 | g.59697540C>A | CA400428718 | PTRH2 | c.439G>T (p.Gly147Ter) c.442G>T (p.Gly148Ter) n.45+9831G>T | |
| 17 | g.59697540C= | CA2268261659 | PTRH2 | c.439G= (p.Gly147=) c.442G= (p.Gly148=) n.45+9831G= | |
| 17 | g.59697540C>G | CA400428722 | PTRH2 | c.439G>C (p.Gly147Arg) c.442G>C (p.Gly148Arg) n.45+9831G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697540C>T | CA400428725 | PTRH2 | c.439G>A (p.Gly147Arg) c.442G>A (p.Gly148Arg) n.45+9831G>A | |
| 17 | g.59697541A>C | CA501331344 | PTRH2 | c.438T>G (p.Ala146=) c.441T>G (p.Ala147=) n.45+9830T>G | |
| 17 | g.59697541A>G | CA501331346 | PTRH2 | c.438T>C (p.Ala146=) c.441T>C (p.Ala147=) n.45+9830T>C | |
| 17 | g.59697541A>T | CA501331345 | PTRH2 | c.438T>A (p.Ala146=) c.441T>A (p.Ala147=) n.45+9830T>A | |
| 17 | g.59697542G>A | CA400428729 | PTRH2 | c.437C>T (p.Ala146Val) c.440C>T (p.Ala147Val) n.45+9829C>T | |
| 17 | g.59697542G>C | CA400428738 | PTRH2 | c.437C>G (p.Ala146Gly) c.440C>G (p.Ala147Gly) n.45+9829C>G | |
| 17 | g.59697542G>T | CA400428732 | PTRH2 | c.437C>A (p.Ala146Asp) c.440C>A (p.Ala147Asp) n.45+9829C>A | |
| 17 | g.59697543C>A | CA400428743 | PTRH2 | c.436G>T (p.Ala146Ser) c.439G>T (p.Ala147Ser) n.45+9828G>T | |
| 17 | g.59697543C>G | CA400428747 | PTRH2 | c.436G>C (p.Ala146Pro) c.439G>C (p.Ala147Pro) n.45+9828G>C | |
| 17 | g.59697543C>T | CA400428745 | PTRH2 | c.436G>A (p.Ala146Thr) c.439G>A (p.Ala147Thr) n.45+9828G>A | |
| 17 | g.59697544A>C | CA400428752 | PTRH2 | c.435T>G (p.Asp145Glu) c.438T>G (p.Asp146Glu) n.45+9827T>G | |
| 17 | g.59697544A>G | CA501331348 | PTRH2 | c.435T>C (p.Asp145=) c.438T>C (p.Asp146=) n.45+9827T>C | gnomAD v4 |
| 17 | g.59697544A>T | CA400428754 | PTRH2 | c.435T>A (p.Asp145Glu) c.438T>A (p.Asp146Glu) n.45+9827T>A | |
| 17 | g.59697545T>A | CA400428758 | PTRH2 | c.434A>T (p.Asp145Val) c.437A>T (p.Asp146Val) n.45+9826A>T | |
| 17 | g.59697545T>C | CA400428760 | PTRH2 | c.434A>G (p.Asp145Gly) c.437A>G (p.Asp146Gly) n.45+9826A>G | |
| 17 | g.59697545T>G | CA400428766 | PTRH2 | c.434A>C (p.Asp145Ala) c.437A>C (p.Asp146Ala) n.45+9826A>C | |
| 17 | g.59697546C>A | CA400428769 | PTRH2 | c.433G>T (p.Asp145Tyr) c.436G>T (p.Asp146Tyr) n.45+9825G>T | |
| 17 | g.59697546C>G | CA400428770 | PTRH2 | c.433G>C (p.Asp145His) c.436G>C (p.Asp146His) n.45+9825G>C | |
| 17 | g.59697546C>T | CA400428771 | PTRH2 | c.433G>A (p.Asp145Asn) c.436G>A (p.Asp146Asn) n.45+9825G>A | |
| 17 | g.59697547T>A | CA400428774 | PTRH2 | c.432A>T (p.Gln144His) c.435A>T (p.Gln145His) n.45+9824A>T | |
| 17 | g.59697547T>C | CA501331350 | PTRH2 | c.432A>G (p.Gln144=) c.435A>G (p.Gln145=) n.45+9824A>G | |
| 17 | g.59697547T>G | CA400428777 | PTRH2 | c.432A>C (p.Gln144His) c.435A>C (p.Gln145His) n.45+9824A>C | |
| 17 | g.59697548T>A | CA400428780 | PTRH2 | c.431A>T (p.Gln144Leu) c.434A>T (p.Gln145Leu) n.45+9823A>T | |
| 17 | g.59697548T>C | CA400428782 | PTRH2 | c.431A>G (p.Gln144Arg) c.434A>G (p.Gln145Arg) n.45+9823A>G | |
| 17 | g.59697548T>G | CA400428786 | PTRH2 | c.431A>C (p.Gln144Pro) c.434A>C (p.Gln145Pro) n.45+9823A>C | |
| 17 | g.59697549G>A | CA400428791 | PTRH2 | c.430C>T (p.Gln144Ter) c.433C>T (p.Gln145Ter) n.45+9822C>T | |
| 17 | g.59697549G>C | CA400428788 | PTRH2 | c.430C>G (p.Gln144Glu) c.433C>G (p.Gln145Glu) n.45+9822C>G | |
| 17 | g.59697549G>T | CA400428789 | PTRH2 | c.430C>A (p.Gln144Lys) c.433C>A (p.Gln145Lys) n.45+9822C>A | gnomAD v4 |
| 17 | g.59697550A>C | CA400428793 | PTRH2 | c.429T>G (p.Ile143Met) c.432T>G (p.Ile144Met) n.45+9821T>G | |
| 17 | g.59697550A>G | CA501331352 | PTRH2 | c.429T>C (p.Ile143=) c.432T>C (p.Ile144=) n.45+9821T>C | |
| 17 | g.59697550A>T | CA501331353 | PTRH2 | c.429T>A (p.Ile143=) c.432T>A (p.Ile144=) n.45+9821T>A | |
| 17 | g.59697551A= | CA2268261660 | PTRH2 | c.428T= (p.Ile143=) c.431T= (p.Ile144=) n.45+9820T= | |
| 17 | g.59697551A>C | CA400428796 | PTRH2 | c.428T>G (p.Ile143Ser) c.431T>G (p.Ile144Ser) n.45+9820T>G | |
| 17 | g.59697551A>G | CA292126969 | PTRH2 | c.428T>C (p.Ile143Thr) c.431T>C (p.Ile144Thr) n.45+9820T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697551A>T | CA400428808 | PTRH2 | c.428T>A (p.Ile143Asn) c.431T>A (p.Ile144Asn) n.45+9820T>A | |
| 17 | g.59697552T>A | CA400428817 | PTRH2 | c.427A>T (p.Ile143Phe) c.430A>T (p.Ile144Phe) n.45+9819A>T | |
| 17 | g.59697552T>C | CA400428819 | PTRH2 | c.427A>G (p.Ile143Val) c.430A>G (p.Ile144Val) n.45+9819A>G | |
| 17 | g.59697552T>G | CA400428821 | PTRH2 | c.427A>C (p.Ile143Leu) c.430A>C (p.Ile144Leu) n.45+9819A>C | |
| 17 | g.59697553T>A | CA400428824 | PTRH2 | c.426A>T (p.Leu142Phe) c.429A>T (p.Leu143Phe) n.45+9818A>T | |
| 17 | g.59697553T>C | CA501331354 | PTRH2 | c.426A>G (p.Leu142=) c.429A>G (p.Leu143=) n.45+9818A>G | |
| 17 | g.59697553T>G | CA400428826 | PTRH2 | c.426A>C (p.Leu142Phe) c.429A>C (p.Leu143Phe) n.45+9818A>C | gnomAD v4 |
| 17 | g.59697554A>C | CA400428830 | PTRH2 | c.425T>G (p.Leu142Ter) c.428T>G (p.Leu143Ter) n.45+9817T>G | |
| 17 | g.59697554A>G | CA400428834 | PTRH2 | c.425T>C (p.Leu142Ser) c.428T>C (p.Leu143Ser) n.45+9817T>C | |
| 17 | g.59697554A>T | CA400428838 | PTRH2 | c.425T>A (p.Leu142Ter) c.428T>A (p.Leu143Ter) n.45+9817T>A | |
| 17 | g.59697555A= | CA2268261661 | PTRH2 | c.424T= (p.Leu142=) c.427T= (p.Leu143=) n.45+9816T= | |
| 17 | g.59697555A>C | CA292126970 | PTRH2 | c.424T>G (p.Leu142Val) c.427T>G (p.Leu143Val) n.45+9816T>G | dbSNP |
| 17 | g.59697555A>G | CA501331356 | PTRH2 | c.424T>C (p.Leu142=) c.427T>C (p.Leu143=) n.45+9816T>C | |
| 17 | g.59697555A>T | CA400428842 | PTRH2 | c.424T>A (p.Leu142Ile) c.427T>A (p.Leu143Ile) n.45+9816T>A | |
| 17 | g.59697556A>C | CA400428847 | PTRH2 | c.423T>G (p.Ser141Arg) c.426T>G (p.Ser142Arg) n.45+9815T>G | |
| 17 | g.59697556A>G | CA501331357 | PTRH2 | c.423T>C (p.Ser141=) c.426T>C (p.Ser142=) n.45+9815T>C | |
| 17 | g.59697556A>T | CA400428849 | PTRH2 | c.423T>A (p.Ser141Arg) c.426T>A (p.Ser142Arg) n.45+9815T>A | |
| 17 | g.59697557C>A | CA400428866 | PTRH2 | c.422G>T (p.Ser141Ile) c.425G>T (p.Ser142Ile) n.45+9814G>T | |
| 17 | g.59697557C= | CA2268261662 | PTRH2 | c.422G= (p.Ser141=) c.425G= (p.Ser142=) n.45+9814G= | |
| 17 | g.59697557C>G | CA400428870 | PTRH2 | c.422G>C (p.Ser141Thr) c.425G>C (p.Ser142Thr) n.45+9814G>C | |
| 17 | g.59697557C>T | CA8681900 | PTRH2 | c.422G>A (p.Ser141Asn) c.425G>A (p.Ser142Asn) n.45+9814G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697558T>A | CA400428876 | PTRH2 | c.421A>T (p.Ser141Cys) c.424A>T (p.Ser142Cys) n.45+9813A>T | |
| 17 | g.59697558T>C | CA400428880 | PTRH2 | c.421A>G (p.Ser141Gly) c.424A>G (p.Ser142Gly) n.45+9813A>G | |
| 17 | g.59697558T>G | CA400428882 | PTRH2 | c.421A>C (p.Ser141Arg) c.424A>C (p.Ser142Arg) n.45+9813A>C | |
| 17 | g.59697559T>A | CA501331361 | PTRH2 | c.420A>T (p.Val140=) c.423A>T (p.Val141=) n.45+9812A>T | |
| 17 | g.59697559T>C | CA501331362 | PTRH2 | c.420A>G (p.Val140=) c.423A>G (p.Val141=) n.45+9812A>G | |
| 17 | g.59697559T>G | CA501331363 | PTRH2 | c.420A>C (p.Val140=) c.423A>C (p.Val141=) n.45+9812A>C | dbSNP |
| 17 | g.59697559T= | CA2268261664 | PTRH2 | c.420A= (p.Val140=) c.423A= (p.Val141=) n.45+9812A= | |
| 17 | g.59697559_59697561delinsTAC | CA2268261663 | PTRH2 | c.418_420delinsGTA (p.Val140=) c.421_423delinsGTA (p.Val141=) n.45+9810_45+9812delinsGTA | |
| 17 | g.59697560A= | CA2268261665 | PTRH2 | c.419T= (p.Val140=) c.422T= (p.Val141=) n.45+9811T= | |
| 17 | g.59697560A>C | CA400428889 | PTRH2 | c.419T>G (p.Val140Gly) c.422T>G (p.Val141Gly) n.45+9811T>G | |
| 17 | g.59697560A>G | CA400428897 | PTRH2 | c.419T>C (p.Val140Ala) c.422T>C (p.Val141Ala) n.45+9811T>C | dbSNP |
| 17 | g.59697560A>T | CA400428894 | PTRH2 | c.419T>A (p.Val140Glu) c.422T>A (p.Val141Glu) n.45+9811T>A | |
| 17 | g.59697560dup | CA627145072 | PTRH2 | c.419dup (p.Ser141LysfsTer30) c.422dup (p.Ser142LysfsTer30) n.45+9811dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697561_59697562del | CA8681901 | PTRH2 | c.418_419del (p.Val140LysfsTer30) c.421_422del (p.Val141LysfsTer30) n.45+9810_45+9811del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697561C>A | CA400428900 | PTRH2 | c.418G>T (p.Val140Leu) c.421G>T (p.Val141Leu) n.45+9810G>T | |
| 17 | g.59697561C= | CA2268261666 | PTRH2 | c.418G= (p.Val140=) c.421G= (p.Val141=) n.45+9810G= | |
| 17 | g.59697561C>G | CA8681903 | PTRH2 | c.418G>C (p.Val140Leu) c.421G>C (p.Val141Leu) n.45+9810G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697561C>T | CA8681902 | PTRH2 | c.418G>A (p.Val140Ile) c.421G>A (p.Val141Ile) n.45+9810G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697562A>C | CA501331365 | PTRH2 | c.417T>G (p.Thr139=) c.420T>G (p.Thr140=) n.45+9809T>G | |
| 17 | g.59697562A>G | CA501331366 | PTRH2 | c.417T>C (p.Thr139=) c.420T>C (p.Thr140=) n.45+9809T>C | |
| 17 | g.59697562A>T | CA501331367 | PTRH2 | c.417T>A (p.Thr139=) c.420T>A (p.Thr140=) n.45+9809T>A | |
| 17 | g.59697563G>A | CA400428906 | PTRH2 | c.416C>T (p.Thr139Ile) c.419C>T (p.Thr140Ile) n.45+9808C>T | |
| 17 | g.59697563G>C | CA400428912 | PTRH2 | c.416C>G (p.Thr139Ser) c.419C>G (p.Thr140Ser) n.45+9808C>G | |
| 17 | g.59697563G>T | CA400428910 | PTRH2 | c.416C>A (p.Thr139Asn) c.419C>A (p.Thr140Asn) n.45+9808C>A | |
| 17 | g.59697564T>A | CA400428916 | PTRH2 | c.415A>T (p.Thr139Ser) c.418A>T (p.Thr140Ser) n.45+9807A>T | |
| 17 | g.59697564T>C | CA400428919 | PTRH2 | c.415A>G (p.Thr139Ala) c.418A>G (p.Thr140Ala) n.45+9807A>G | |
| 17 | g.59697564T>G | CA400428920 | PTRH2 | c.415A>C (p.Thr139Pro) c.418A>C (p.Thr140Pro) n.45+9807A>C | |
| 17 | g.59697565C>A | CA501331368 | PTRH2 | c.414G>T (p.Leu138=) c.417G>T (p.Leu139=) n.45+9806G>T | |
| 17 | g.59697565C>G | CA501331369 | PTRH2 | c.414G>C (p.Leu138=) c.417G>C (p.Leu139=) n.45+9806G>C | |
| 17 | g.59697565C>T | CA501331371 | PTRH2 | c.414G>A (p.Leu138=) c.417G>A (p.Leu139=) n.45+9806G>A | |
| 17 | g.59697566A= | CA2268261667 | PTRH2 | c.413T= (p.Leu138=) c.416T= (p.Leu139=) n.45+9805T= | |
| 17 | g.59697566A>C | CA400428921 | PTRH2 | c.413T>G (p.Leu138Arg) c.416T>G (p.Leu139Arg) n.45+9805T>G | |
| 17 | g.59697566A>G | CA292126993 | PTRH2 | c.413T>C (p.Leu138Pro) c.416T>C (p.Leu139Pro) n.45+9805T>C | dbSNP |
| 17 | g.59697566A>T | CA400428923 | PTRH2 | c.413T>A (p.Leu138Gln) c.416T>A (p.Leu139Gln) n.45+9805T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697567G>A | CA292126999 | PTRH2 | c.412C>T (p.Leu138=) c.415C>T (p.Leu139=) n.45+9804C>T | dbSNP |
| 17 | g.59697567G>C | CA400428927 | PTRH2 | c.412C>G (p.Leu138Val) c.415C>G (p.Leu139Val) n.45+9804C>G | |
| 17 | g.59697567G= | CA2268261668 | PTRH2 | c.412C= (p.Leu138=) c.415C= (p.Leu139=) n.45+9804C= | |
| 17 | g.59697567G>T | CA400428929 | PTRH2 | c.412C>A (p.Leu138Met) c.415C>A (p.Leu139Met) n.45+9804C>A | |
| 17 | g.59697568T>A | CA501331374 | PTRH2 | c.411A>T (p.Gly137=) c.414A>T (p.Gly138=) n.45+9803A>T | |
| 17 | g.59697568T>C | CA501331375 | PTRH2 | c.411A>G (p.Gly137=) c.414A>G (p.Gly138=) n.45+9803A>G | |
| 17 | g.59697568T>G | CA501331376 | PTRH2 | c.411A>C (p.Gly137=) c.414A>C (p.Gly138=) n.45+9803A>C | |
| 17 | g.59697568_59697569delinsTC | CA2268261669 | PTRH2 | c.410_411delinsGA (p.Gly137=) c.413_414delinsGA (p.Gly138=) n.45+9802_45+9803delinsGA | |
| 17 | g.59697569C>A | CA400428932 | PTRH2 | c.410G>T (p.Gly137Val) c.413G>T (p.Gly138Val) n.45+9802G>T | |
| 17 | g.59697569C>G | CA400428933 | PTRH2 | c.410G>C (p.Gly137Ala) c.413G>C (p.Gly138Ala) n.45+9802G>C | |
| 17 | g.59697569C>T | CA400428934 | PTRH2 | c.410G>A (p.Gly137Glu) c.413G>A (p.Gly138Glu) n.45+9802G>A | |
| 17 | g.59697571del | CA2268261670 | PTRH2 | c.410del (p.Gly137AspfsTer2) c.413del (p.Gly138AspfsTer2) n.45+9802del | dbSNP |
| 17 | g.59697570C>A | CA400428935 | PTRH2 | c.409G>T (p.Gly137Ter) c.412G>T (p.Gly138Ter) n.45+9801G>T | |
| 17 | g.59697570C>G | CA400428938 | PTRH2 | c.409G>C (p.Gly137Arg) c.412G>C (p.Gly138Arg) n.45+9801G>C | |
| 17 | g.59697570C>T | CA400428936 | PTRH2 | c.409G>A (p.Gly137Arg) c.412G>A (p.Gly138Arg) n.45+9801G>A | |
| 17 | g.59697571C>A | CA501331380 | PTRH2 | c.408G>T (p.Leu136=) c.411G>T (p.Leu137=) n.45+9800G>T | |
| 17 | g.59697571C>G | CA501331379 | PTRH2 | c.408G>C (p.Leu136=) c.411G>C (p.Leu137=) n.45+9800G>C | |
| 17 | g.59697571C>T | CA501331378 | PTRH2 | c.408G>A (p.Leu136=) c.411G>A (p.Leu137=) n.45+9800G>A | gnomAD v4 |
| 17 | g.59697572A>C | CA400428940 | PTRH2 | c.407T>G (p.Leu136Arg) c.410T>G (p.Leu137Arg) n.45+9799T>G | |
| 17 | g.59697572A>G | CA400428946 | PTRH2 | c.407T>C (p.Leu136Pro) c.410T>C (p.Leu137Pro) n.45+9799T>C | |
| 17 | g.59697572A>T | CA400428942 | PTRH2 | c.407T>A (p.Leu136Gln) c.410T>A (p.Leu137Gln) n.45+9799T>A | |
| 17 | g.59697573G>A | CA501331381 | PTRH2 | c.406C>T (p.Leu136=) c.409C>T (p.Leu137=) n.45+9798C>T | |
| 17 | g.59697573G>C | CA400428947 | PTRH2 | c.406C>G (p.Leu136Val) c.409C>G (p.Leu137Val) n.45+9798C>G | |
| 17 | g.59697573G>T | CA400428948 | PTRH2 | c.406C>A (p.Leu136Met) c.409C>A (p.Leu137Met) n.45+9798C>A | |
| 17 | g.59697574C>A | CA400428951 | PTRH2 | c.405G>T (p.Met135Ile) c.408G>T (p.Met136Ile) n.45+9797G>T | |
| 17 | g.59697574C>G | CA400428952 | PTRH2 | c.405G>C (p.Met135Ile) c.408G>C (p.Met136Ile) n.45+9797G>C | gnomAD v4 |
| 17 | g.59697574C>T | CA400428955 | PTRH2 | c.405G>A (p.Met135Ile) c.408G>A (p.Met136Ile) n.45+9797G>A | |
| 17 | g.59697575A= | CA2268261671 | PTRH2 | c.404T= (p.Met135=) c.407T= (p.Met136=) n.45+9796T= | |
| 17 | g.59697575A>C | CA400428958 | PTRH2 | c.404T>G (p.Met135Arg) c.407T>G (p.Met136Arg) n.45+9796T>G | |
| 17 | g.59697575A>G | CA400428960 | PTRH2 | c.404T>C (p.Met135Thr) c.407T>C (p.Met136Thr) n.45+9796T>C | |
| 17 | g.59697575A>T | CA400428962 | PTRH2 | c.404T>A (p.Met135Lys) c.407T>A (p.Met136Lys) n.45+9796T>A | |
| 17 | g.59697576T>A | CA400428966 | PTRH2 | c.403A>T (p.Met135Leu) c.406A>T (p.Met136Leu) n.45+9795A>T | |
| 17 | g.59697576T>C | CA400428967 | PTRH2 | c.403A>G (p.Met135Val) c.406A>G (p.Met136Val) n.45+9795A>G | gnomAD v4 |
| 17 | g.59697576T>G | CA400428968 | PTRH2 | c.403A>C (p.Met135Leu) c.406A>C (p.Met136Leu) n.45+9795A>C | |
| 17 | g.59697580dup | CA292127009 | PTRH2 | c.403dup (p.Met135AsnfsTer?) c.406dup (p.Met136AsnfsTer?) n.45+9795dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697577T>A | CA400428972 | PTRH2 | c.402A>T (p.Lys134Asn) c.405A>T (p.Lys135Asn) n.45+9794A>T | gnomAD v4 |
| 17 | g.59697577T>C | CA501331387 | PTRH2 | c.402A>G (p.Lys134=) c.405A>G (p.Lys135=) n.45+9794A>G | |
| 17 | g.59697577T>G | CA400428970 | PTRH2 | c.402A>C (p.Lys134Asn) c.405A>C (p.Lys135Asn) n.45+9794A>C | |
| 17 | g.59697578T>A | CA400428973 | PTRH2 | c.401A>T (p.Lys134Ile) c.404A>T (p.Lys135Ile) n.45+9793A>T | |
| 17 | g.59697578T>C | CA400428976 | PTRH2 | c.401A>G (p.Lys134Arg) c.404A>G (p.Lys135Arg) n.45+9793A>G | |
| 17 | g.59697578T>G | CA400428978 | PTRH2 | c.401A>C (p.Lys134Thr) c.404A>C (p.Lys135Thr) n.45+9793A>C | |
| 17 | g.59697578_59697579insACAG | CA2639061182 | PTRH2 | c.400_401insCTGT (p.Lys134ThrfsTer?) c.403_404insCTGT (p.Lys135ThrfsTer?) n.45+9792_45+9793insCTGT | gnomAD v4 |
| 17 | g.59697579T>A | CA400428981 | PTRH2 | c.400A>T (p.Lys134Ter) c.403A>T (p.Lys135Ter) n.45+9792A>T | |
| 17 | g.59697579T>C | CA8681904 | PTRH2 | c.400A>G (p.Lys134Glu) c.403A>G (p.Lys135Glu) n.45+9792A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697579T>G | CA400428983 | PTRH2 | c.400A>C (p.Lys134Gln) c.403A>C (p.Lys135Gln) n.45+9792A>C | |
| 17 | g.59697579T= | CA2268261672 | PTRH2 | c.400A= (p.Lys134=) c.403A= (p.Lys135=) n.45+9792A= | |
| 17 | g.59697580T>A | CA501331389 | PTRH2 | c.399A>T (p.Ala133=) c.402A>T (p.Ala134=) n.45+9791A>T | |
| 17 | g.59697580T>C | CA501331390 | PTRH2 | c.399A>G (p.Ala133=) c.402A>G (p.Ala134=) n.45+9791A>G | dbSNP gnomAD v4 |
| 17 | g.59697580T>G | CA501331391 | PTRH2 | c.399A>C (p.Ala133=) c.402A>C (p.Ala134=) n.45+9791A>C | |
| 17 | g.59697580T= | CA2268261673 | PTRH2 | c.399A= (p.Ala133=) c.402A= (p.Ala134=) n.45+9791A= | |
| 17 | g.59697580_59697581del | CA2639061183 | PTRH2 | c.398_399del (p.Ala133GlufsTer?) c.401_402del (p.Ala134GlufsTer?) n.45+9790_45+9791del | gnomAD v4 |
| 17 | g.59697581G>A | CA400428985 | PTRH2 | c.398C>T (p.Ala133Val) c.401C>T (p.Ala134Val) n.45+9790C>T | |
| 17 | g.59697581G>C | CA400428987 | PTRH2 | c.398C>G (p.Ala133Gly) c.401C>G (p.Ala134Gly) n.45+9790C>G | |
| 17 | g.59697581G>T | CA400428988 | PTRH2 | c.398C>A (p.Ala133Glu) c.401C>A (p.Ala134Glu) n.45+9790C>A | |
| 17 | g.59697582C>A | CA400428989 | PTRH2 | c.397G>T (p.Ala133Ser) c.400G>T (p.Ala134Ser) n.45+9789G>T | |
| 17 | g.59697582C>G | CA400428990 | PTRH2 | c.397G>C (p.Ala133Pro) c.400G>C (p.Ala134Pro) n.45+9789G>C | |
| 17 | g.59697582C>T | CA400428992 | PTRH2 | c.397G>A (p.Ala133Thr) c.400G>A (p.Ala134Thr) n.45+9789G>A | |
| 17 | g.59697583A= | CA2268261674 | PTRH2 | c.396T= (p.His132=) c.399T= (p.His133=) n.45+9788T= | |
| 17 | g.59697583A>C | CA400428994 | PTRH2 | c.396T>G (p.His132Gln) c.399T>G (p.His133Gln) n.45+9788T>G | |
| 17 | g.59697583A>G | CA501331395 | PTRH2 | c.396T>C (p.His132=) c.399T>C (p.His133=) n.45+9788T>C | |
| 17 | g.59697583A>T | CA292127021 | PTRH2 | c.396T>A (p.His132Gln) c.399T>A (p.His133Gln) n.45+9788T>A | dbSNP |
| 17 | g.59697583_59697584insGTCCCC | CA2639061184 | PTRH2 | c.395_396insGGGGAC (p.His132delinsGlnGlyThr) c.398_399insGGGGAC (p.His133delinsGlnGlyThr) n.45+9787_45+9788insGGGGAC | gnomAD v4 |
| 17 | g.59697584T>A | CA400428997 | PTRH2 | c.395A>T (p.His132Leu) c.398A>T (p.His133Leu) n.45+9787A>T | |
| 17 | g.59697584T>C | CA400428999 | PTRH2 | c.395A>G (p.His132Arg) c.398A>G (p.His133Arg) n.45+9787A>G | gnomAD v4 |
| 17 | g.59697584T>G | CA400429001 | PTRH2 | c.395A>C (p.His132Pro) c.398A>C (p.His133Pro) n.45+9787A>C | gnomAD v4 |
| 17 | g.59697585G>A | CA8681905 | PTRH2 | c.394C>T (p.His132Tyr) c.397C>T (p.His133Tyr) n.45+9786C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697585G>C | CA400429005 | PTRH2 | c.394C>G (p.His132Asp) c.397C>G (p.His133Asp) n.45+9786C>G | |
| 17 | g.59697585G= | CA2268261675 | PTRH2 | c.394C= (p.His132=) c.397C= (p.His133=) n.45+9786C= | |
| 17 | g.59697585G>T | CA400429007 | PTRH2 | c.394C>A (p.His132Asn) c.397C>A (p.His133Asn) n.45+9786C>A | |
| 17 | g.59697586G>A | CA501331397 | PTRH2 | c.393C>T (p.Ala131=) c.396C>T (p.Ala132=) n.45+9785C>T | |
| 17 | g.59697586G>C | CA501331398 | PTRH2 | c.393C>G (p.Ala131=) c.396C>G (p.Ala132=) n.45+9785C>G | gnomAD v4 |
| 17 | g.59697586G= | CA2268261676 | PTRH2 | c.393C= (p.Ala131=) c.396C= (p.Ala132=) n.45+9785C= | |
| 17 | g.59697586G>T | CA501331399 | PTRH2 | c.393C>A (p.Ala131=) c.396C>A (p.Ala132=) n.45+9785C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697587G>A | CA400429014 | PTRH2 | c.392C>T (p.Ala131Val) c.395C>T (p.Ala132Val) n.45+9784C>T | gnomAD v4 |
| 17 | g.59697587G>C | CA400429010 | PTRH2 | c.392C>G (p.Ala131Gly) c.395C>G (p.Ala132Gly) n.45+9784C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697587G= | CA2268261677 | PTRH2 | c.392C= (p.Ala131=) c.395C= (p.Ala132=) n.45+9784C= | |
| 17 | g.59697587G>T | CA400429012 | PTRH2 | c.392C>A (p.Ala131Asp) c.395C>A (p.Ala132Asp) n.45+9784C>A | |
| 17 | g.59697588C>A | CA400429017 | PTRH2 | c.391G>T (p.Ala131Ser) c.394G>T (p.Ala132Ser) n.45+9783G>T | |
| 17 | g.59697588C>G | CA400429019 | PTRH2 | c.391G>C (p.Ala131Pro) c.394G>C (p.Ala132Pro) n.45+9783G>C | |
| 17 | g.59697588C>T | CA400429021 | PTRH2 | c.391G>A (p.Ala131Thr) c.394G>A (p.Ala132Thr) n.45+9783G>A | |
| 17 | g.59697589C>A | CA400429023 | PTRH2 | c.390G>T (p.Leu130Phe) c.393G>T (p.Leu131Phe) n.45+9782G>T | |
| 17 | g.59697589C>G | CA400429025 | PTRH2 | c.390G>C (p.Leu130Phe) c.393G>C (p.Leu131Phe) n.45+9782G>C | |
| 17 | g.59697589C>T | CA501331402 | PTRH2 | c.390G>A (p.Leu130=) c.393G>A (p.Leu131=) n.45+9782G>A | |
| 17 | g.59697590A>C | CA400429027 | PTRH2 | c.389T>G (p.Leu130Trp) c.392T>G (p.Leu131Trp) n.45+9781T>G | |
| 17 | g.59697590A>G | CA400429032 | PTRH2 | c.389T>C (p.Leu130Ser) c.392T>C (p.Leu131Ser) n.45+9781T>C | |
| 17 | g.59697590A>T | CA400429030 | PTRH2 | c.389T>A (p.Leu130Ter) c.392T>A (p.Leu131Ter) n.45+9781T>A | |
| 17 | g.59697591A= | CA2268261678 | PTRH2 | c.388T= (p.Leu130=) c.391T= (p.Leu131=) n.45+9780T= | |
| 17 | g.59697591A>C | CA400429035 | PTRH2 | c.388T>G (p.Leu130Val) c.391T>G (p.Leu131Val) n.45+9780T>G | gnomAD v4 |
| 17 | g.59697591A>G | CA501331404 | PTRH2 | c.388T>C (p.Leu130=) c.391T>C (p.Leu131=) n.45+9780T>C | dbSNP gnomAD v4 |
| 17 | g.59697591A>T | CA400429037 | PTRH2 | c.388T>A (p.Leu130Met) c.391T>A (p.Leu131Met) n.45+9780T>A | |
| 17 | g.59697592T>A | CA400429039 | PTRH2 | c.387A>T (p.Leu129Phe) c.390A>T (p.Leu130Phe) n.45+9779A>T | |
| 17 | g.59697592T>C | CA501331407 | PTRH2 | c.387A>G (p.Leu129=) c.390A>G (p.Leu130=) n.45+9779A>G | gnomAD v4 |
| 17 | g.59697592T>G | CA400429042 | PTRH2 | c.387A>C (p.Leu129Phe) c.390A>C (p.Leu130Phe) n.45+9779A>C | |
| 17 | g.59697593A>C | CA400429044 | PTRH2 | c.386T>G (p.Leu129Ter) c.389T>G (p.Leu130Ter) n.45+9778T>G | |
| 17 | g.59697593A>G | CA400429046 | PTRH2 | c.386T>C (p.Leu129Ser) c.389T>C (p.Leu130Ser) n.45+9778T>C | |
| 17 | g.59697593A>T | CA400429049 | PTRH2 | c.386T>A (p.Leu129Ter) c.389T>A (p.Leu130Ter) n.45+9778T>A | |
| 17 | g.59697594A>C | CA400429052 | PTRH2 | c.385T>G (p.Leu129Val) c.388T>G (p.Leu130Val) n.45+9777T>G | |
| 17 | g.59697594A>G | CA501331409 | PTRH2 | c.385T>C (p.Leu129=) c.388T>C (p.Leu130=) n.45+9777T>C | |
| 17 | g.59697594A>T | CA400429054 | PTRH2 | c.385T>A (p.Leu129Ile) c.388T>A (p.Leu130Ile) n.45+9777T>A | |
| 17 | g.59697595T>A | CA501331410 | PTRH2 | c.384A>T (p.Ala128=) c.387A>T (p.Ala129=) n.45+9776A>T | |
| 17 | g.59697595T>C | CA501331411 | PTRH2 | c.384A>G (p.Ala128=) c.387A>G (p.Ala129=) n.45+9776A>G | gnomAD v4 |
| 17 | g.59697595T>G | CA8681906 | PTRH2 | c.384A>C (p.Ala128=) c.387A>C (p.Ala129=) n.45+9776A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697595T= | CA2268261679 | PTRH2 | c.384A= (p.Ala128=) c.387A= (p.Ala129=) n.45+9776A= | |
| 17 | g.59697596G>A | CA400429065 | PTRH2 | c.383C>T (p.Ala128Val) c.386C>T (p.Ala129Val) n.45+9775C>T | |
| 17 | g.59697596G>C | CA400429061 | PTRH2 | c.383C>G (p.Ala128Gly) c.386C>G (p.Ala129Gly) n.45+9775C>G | |
| 17 | g.59697596G>T | CA400429063 | PTRH2 | c.383C>A (p.Ala128Glu) c.386C>A (p.Ala129Glu) n.45+9775C>A | |
| 17 | g.59697597C>A | CA400429068 | PTRH2 | c.382G>T (p.Ala128Ser) c.385G>T (p.Ala129Ser) n.45+9774G>T | |
| 17 | g.59697597C>G | CA400429073 | PTRH2 | c.382G>C (p.Ala128Pro) c.385G>C (p.Ala129Pro) n.45+9774G>C | |
| 17 | g.59697597C>T | CA400429070 | PTRH2 | c.382G>A (p.Ala128Thr) c.385G>A (p.Ala129Thr) n.45+9774G>A | COSMIC |
| 17 | g.59697598A>C | CA400429076 | PTRH2 | c.381T>G (p.Ile127Met) c.384T>G (p.Ile128Met) n.45+9773T>G | |
| 17 | g.59697598A>G | CA501331414 | PTRH2 | c.381T>C (p.Ile127=) c.384T>C (p.Ile128=) n.45+9773T>C | |
| 17 | g.59697598A>T | CA501331415 | PTRH2 | c.381T>A (p.Ile127=) c.384T>A (p.Ile128=) n.45+9773T>A | |
| 17 | g.59697599A= | CA2268261680 | PTRH2 | c.380T= (p.Ile127=) c.383T= (p.Ile128=) n.45+9772T= | |
| 17 | g.59697599A>C | CA400429079 | PTRH2 | c.380T>G (p.Ile127Ser) c.383T>G (p.Ile128Ser) n.45+9772T>G | |
| 17 | g.59697599A>G | CA400429081 | PTRH2 | c.380T>C (p.Ile127Thr) c.383T>C (p.Ile128Thr) n.45+9772T>C | dbSNP |
| 17 | g.59697599A>T | CA8681907 | PTRH2 | c.380T>A (p.Ile127Asn) c.383T>A (p.Ile128Asn) n.45+9772T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697600T>A | CA400429086 | PTRH2 | c.379A>T (p.Ile127Phe) c.382A>T (p.Ile128Phe) n.45+9771A>T | |
| 17 | g.59697600T>C | CA8681908 | PTRH2 | c.379A>G (p.Ile127Val) c.382A>G (p.Ile128Val) n.45+9771A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697600T>G | CA400429089 | PTRH2 | c.379A>C (p.Ile127Leu) c.382A>C (p.Ile128Leu) n.45+9771A>C | |
| 17 | g.59697600T= | CA2268261681 | PTRH2 | c.379A= (p.Ile127=) c.382A= (p.Ile128=) n.45+9771A= | |
| 17 | g.59697601C>A | CA501331417 | PTRH2 | c.378G>T (p.Leu126=) c.381G>T (p.Leu127=) n.45+9770G>T | dbSNP |
| 17 | g.59697601C= | CA2268261682 | PTRH2 | c.378G= (p.Leu126=) c.381G= (p.Leu127=) n.45+9770G= | |
| 17 | g.59697601C>G | CA501331418 | PTRH2 | c.378G>C (p.Leu126=) c.381G>C (p.Leu127=) n.45+9770G>C | |
| 17 | g.59697601C>T | CA8681909 | PTRH2 | c.378G>A (p.Leu126=) c.381G>A (p.Leu127=) n.45+9770G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697602A= | CA2268261684 | PTRH2 | c.377T= (p.Leu126=) c.380T= (p.Leu127=) n.45+9769T= | |
| 17 | g.59697602A>C | CA400429094 | PTRH2 | c.377T>G (p.Leu126Arg) c.380T>G (p.Leu127Arg) n.45+9769T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697602A>G | CA400429096 | PTRH2 | c.377T>C (p.Leu126Pro) c.380T>C (p.Leu127Pro) n.45+9769T>C | |
| 17 | g.59697602A>T | CA400429098 | PTRH2 | c.377T>A (p.Leu126Gln) c.380T>A (p.Leu127Gln) n.45+9769T>A | |
| 17 | g.59697603G>A | CA501331420 | PTRH2 | c.376C>T (p.Leu126=) c.379C>T (p.Leu127=) n.45+9768C>T | gnomAD v4 |
| 17 | g.59697603G>C | CA292127069 | PTRH2 | c.376C>G (p.Leu126Val) c.379C>G (p.Leu127Val) n.45+9768C>G | dbSNP |
| 17 | g.59697603G= | CA2268261685 | PTRH2 | c.376C= (p.Leu126=) c.379C= (p.Leu127=) n.45+9768C= | |
| 17 | g.59697603G>T | CA400429102 | PTRH2 | c.376C>A (p.Leu126Met) c.379C>A (p.Leu127Met) n.45+9768C>A | |
| 17 | g.59697604G>A | CA292127079 | PTRH2 | c.375C>T (p.Thr125=) c.378C>T (p.Thr126=) n.45+9767C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697604G>C | CA8681910 | PTRH2 | c.375C>G (p.Thr125=) c.378C>G (p.Thr126=) n.45+9767C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697604G= | CA2268261686 | PTRH2 | c.375C= (p.Thr125=) c.378C= (p.Thr126=) n.45+9767C= | |
| 17 | g.59697604G>T | CA501331423 | PTRH2 | c.375C>A (p.Thr125=) c.378C>A (p.Thr126=) n.45+9767C>A | |
| 17 | g.59697605G>A | CA400429105 | PTRH2 | c.374C>T (p.Thr125Ile) c.377C>T (p.Thr126Ile) n.45+9766C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697605G>C | CA8681911 | PTRH2 | c.374C>G (p.Thr125Ser) c.377C>G (p.Thr126Ser) n.45+9766C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697605G= | CA2268261687 | PTRH2 | c.374C= (p.Thr125=) c.377C= (p.Thr126=) n.45+9766C= | |
| 17 | g.59697605G>T | CA400429108 | PTRH2 | c.374C>A (p.Thr125Asn) c.377C>A (p.Thr126Asn) n.45+9766C>A | gnomAD v4 |
| 17 | g.59697606T>A | CA400429112 | PTRH2 | c.373A>T (p.Thr125Ser) c.376A>T (p.Thr126Ser) n.45+9765A>T | |
| 17 | g.59697606T>C | CA400429115 | PTRH2 | c.373A>G (p.Thr125Ala) c.376A>G (p.Thr126Ala) n.45+9765A>G | |
| 17 | g.59697606T>G | CA400429117 | PTRH2 | c.373A>C (p.Thr125Pro) c.376A>C (p.Thr126Pro) n.45+9765A>C | |
| 17 | g.59697607T>A | CA400429121 | PTRH2 | c.372A>T (p.Glu124Asp) c.375A>T (p.Glu125Asp) n.45+9764A>T | |
| 17 | g.59697607T>C | CA501331428 | PTRH2 | c.372A>G (p.Glu124=) c.375A>G (p.Glu125=) n.45+9764A>G | dbSNP |
| 17 | g.59697607T>G | CA400429123 | PTRH2 | c.372A>C (p.Glu124Asp) c.375A>C (p.Glu125Asp) n.45+9764A>C | |
| 17 | g.59697607T= | CA2268261688 | PTRH2 | c.372A= (p.Glu124=) c.375A= (p.Glu125=) n.45+9764A= | |
| 17 | g.59697610_59697612del | CA645572847 | PTRH2 | c.370_372del (p.Glu124del) c.373_375del (p.Glu125del) n.45+9762_45+9764del | COSMIC |
| 17 | g.59697608T>A | CA400429127 | PTRH2 | c.371A>T (p.Glu124Val) c.374A>T (p.Glu125Val) n.45+9763A>T | |
| 17 | g.59697608T>C | CA400429129 | PTRH2 | c.371A>G (p.Glu124Gly) c.374A>G (p.Glu125Gly) n.45+9763A>G | |
| 17 | g.59697608T>G | CA400429131 | PTRH2 | c.371A>C (p.Glu124Ala) c.374A>C (p.Glu125Ala) n.45+9763A>C | |
| 17 | g.59697609C>A | CA400429132 | PTRH2 | c.370G>T (p.Glu124Ter) c.373G>T (p.Glu125Ter) n.45+9762G>T | |
| 17 | g.59697609C= | CA2268261689 | PTRH2 | c.370G= (p.Glu124=) c.373G= (p.Glu125=) n.45+9762G= | |
| 17 | g.59697609C>G | CA400429135 | PTRH2 | c.370G>C (p.Glu124Gln) c.373G>C (p.Glu125Gln) n.45+9762G>C | |
| 17 | g.59697609C>T | CA400429137 | PTRH2 | c.370G>A (p.Glu124Lys) c.373G>A (p.Glu125Lys) n.45+9762G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697610T>A | CA400429138 | PTRH2 | c.369A>T (p.Glu123Asp) c.372A>T (p.Glu124Asp) n.45+9761A>T | |
| 17 | g.59697610T>C | CA501331430 | PTRH2 | c.369A>G (p.Glu123=) c.372A>G (p.Glu124=) n.45+9761A>G | |
| 17 | g.59697610T>G | CA400429139 | PTRH2 | c.369A>C (p.Glu123Asp) c.372A>C (p.Glu124Asp) n.45+9761A>C | |
| 17 | g.59697611T>A | CA400429140 | PTRH2 | c.368A>T (p.Glu123Val) c.371A>T (p.Glu124Val) n.45+9760A>T | |
| 17 | g.59697611T>C | CA400429142 | PTRH2 | c.368A>G (p.Glu123Gly) c.371A>G (p.Glu124Gly) n.45+9760A>G | |
| 17 | g.59697611T>G | CA400429144 | PTRH2 | c.368A>C (p.Glu123Ala) c.371A>C (p.Glu124Ala) n.45+9760A>C | |
| 17 | g.59697612C>A | CA292127112 | PTRH2 | c.367G>T (p.Glu123Ter) c.370G>T (p.Glu124Ter) n.45+9759G>T | dbSNP |
| 17 | g.59697612C= | CA2268261690 | PTRH2 | c.367G= (p.Glu123=) c.370G= (p.Glu124=) n.45+9759G= | |
| 17 | g.59697612C>G | CA400429147 | PTRH2 | c.367G>C (p.Glu123Gln) c.370G>C (p.Glu124Gln) n.45+9759G>C | |
| 17 | g.59697612C>T | CA400429149 | PTRH2 | c.367G>A (p.Glu123Lys) c.370G>A (p.Glu124Lys) n.45+9759G>A | |
| 17 | g.59697613A= | CA2268261691 | PTRH2 | c.366T= (p.Asp122=) c.369T= (p.Asp123=) n.45+9758T= | |
| 17 | g.59697613A>C | CA400429155 | PTRH2 | c.366T>G (p.Asp122Glu) c.369T>G (p.Asp123Glu) n.45+9758T>G | |
| 17 | g.59697613A>G | CA8681912 | PTRH2 | c.366T>C (p.Asp122=) c.369T>C (p.Asp123=) n.45+9758T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697613A>T | CA400429153 | PTRH2 | c.366T>A (p.Asp122Glu) c.369T>A (p.Asp123Glu) n.45+9758T>A | |
| 17 | g.59697614T>A | CA400429158 | PTRH2 | c.365A>T (p.Asp122Val) c.368A>T (p.Asp123Val) n.45+9757A>T | |
| 17 | g.59697614T>C | CA400429160 | PTRH2 | c.365A>G (p.Asp122Gly) c.368A>G (p.Asp123Gly) n.45+9757A>G | dbSNP |
| 17 | g.59697614T>G | CA400429162 | PTRH2 | c.365A>C (p.Asp122Ala) c.368A>C (p.Asp123Ala) n.45+9757A>C | |
| 17 | g.59697614T= | CA2268261694 | PTRH2 | c.365A= (p.Asp122=) c.368A= (p.Asp123=) n.45+9757A= | |
| 17 | g.59697615C>A | CA400429165 | PTRH2 | c.364G>T (p.Asp122Tyr) c.367G>T (p.Asp123Tyr) n.45+9756G>T | gnomAD v4 |
| 17 | g.59697615C>G | CA400429166 | PTRH2 | c.364G>C (p.Asp122His) c.367G>C (p.Asp123His) n.45+9756G>C | |
| 17 | g.59697615C>T | CA400429168 | PTRH2 | c.364G>A (p.Asp122Asn) c.367G>A (p.Asp123Asn) n.45+9756G>A | |
| 17 | g.59697616A= | CA2268261696 | PTRH2 | c.363T= (p.Pro121=) c.366T= (p.Pro122=) n.45+9755T= | |
| 17 | g.59697616A>C | CA501331437 | PTRH2 | c.363T>G (p.Pro121=) c.366T>G (p.Pro122=) n.45+9755T>G | |
| 17 | g.59697616A>G | CA501331438 | PTRH2 | c.363T>C (p.Pro121=) c.366T>C (p.Pro122=) n.45+9755T>C | dbSNP |
| 17 | g.59697616A>T | CA501331439 | PTRH2 | c.363T>A (p.Pro121=) c.366T>A (p.Pro122=) n.45+9755T>A | |
| 17 | g.59697618_59697620del | CA2639061185 | PTRH2 | c.361_363del (p.Pro121del) c.364_366del (p.Pro122del) n.45+9753_45+9755del | gnomAD v4 |
| 17 | g.59697617G>A | CA400429170 | PTRH2 | c.362C>T (p.Pro121Leu) c.365C>T (p.Pro122Leu) n.45+9754C>T | |
| 17 | g.59697617G>C | CA400429174 | PTRH2 | c.362C>G (p.Pro121Arg) c.365C>G (p.Pro122Arg) n.45+9754C>G | |
| 17 | g.59697617G>T | CA400429172 | PTRH2 | c.362C>A (p.Pro121His) c.365C>A (p.Pro122His) n.45+9754C>A | |
| 17 | g.59697618G>A | CA400429176 | PTRH2 | c.361C>T (p.Pro121Ser) c.364C>T (p.Pro122Ser) n.45+9753C>T | |
| 17 | g.59697618G>C | CA400429179 | PTRH2 | c.361C>G (p.Pro121Ala) c.364C>G (p.Pro122Ala) n.45+9753C>G | |
| 17 | g.59697618G>T | CA400429180 | PTRH2 | c.361C>A (p.Pro121Thr) c.364C>A (p.Pro122Thr) n.45+9753C>A | |
| 17 | g.59697619A= | CA2268261697 | PTRH2 | c.360T= (p.Ala120=) c.363T= (p.Ala121=) n.45+9752T= | |
| 17 | g.59697619A>C | CA501331440 | PTRH2 | c.360T>G (p.Ala120=) c.363T>G (p.Ala121=) n.45+9752T>G | |
| 17 | g.59697619A>G | CA501331442 | PTRH2 | c.360T>C (p.Ala120=) c.363T>C (p.Ala121=) n.45+9752T>C | |
| 17 | g.59697619A>T | CA501331441 | PTRH2 | c.360T>A (p.Ala120=) c.363T>A (p.Ala121=) n.45+9752T>A | dbSNP gnomAD v2 |
| 17 | g.59697620G>A | CA400429181 | PTRH2 | c.359C>T (p.Ala120Val) c.362C>T (p.Ala121Val) n.45+9751C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697620G>C | CA400429183 | PTRH2 | c.359C>G (p.Ala120Gly) c.362C>G (p.Ala121Gly) n.45+9751C>G | |
| 17 | g.59697620G= | CA2268261699 | PTRH2 | c.359C= (p.Ala120=) c.362C= (p.Ala121=) n.45+9751C= | |
| 17 | g.59697620G>T | CA400429185 | PTRH2 | c.359C>A (p.Ala120Asp) c.362C>A (p.Ala121Asp) n.45+9751C>A | gnomAD v4 |
| 17 | g.59697621C>A | CA400429187 | PTRH2 | c.358G>T (p.Ala120Ser) c.361G>T (p.Ala121Ser) n.45+9750G>T | |
| 17 | g.59697621C= | CA2268261700 | PTRH2 | c.358G= (p.Ala120=) c.361G= (p.Ala121=) n.45+9750G= | |
| 17 | g.59697621C>G | CA400429188 | PTRH2 | c.358G>C (p.Ala120Pro) c.361G>C (p.Ala121Pro) n.45+9750G>C | |
| 17 | g.59697621C>T | CA400429189 | PTRH2 | c.358G>A (p.Ala120Thr) c.361G>A (p.Ala121Thr) n.45+9750G>A | dbSNP |
| 17 | g.59697624_59697625insCGGGCCTTT | CA2639061186 | PTRH2 | c.358_359insGCCCGAAAG (p.Lys119_Ala120insGlyProLys) c.361_362insGCCCGAAAG (p.Lys120_Ala121insGlyProLys) n.45+9750_45+9751insGCCCGAAAG | gnomAD v4 |
| 17 | g.59697622T>A | CA400429191 | PTRH2 | c.357A>T (p.Lys119Asn) c.360A>T (p.Lys120Asn) n.45+9749A>T | |
| 17 | g.59697622T>C | CA501331447 | PTRH2 | c.357A>G (p.Lys119=) c.360A>G (p.Lys120=) n.45+9749A>G | |
| 17 | g.59697622T>G | CA400429193 | PTRH2 | c.357A>C (p.Lys119Asn) c.360A>C (p.Lys120Asn) n.45+9749A>C | |
| 17 | g.59697624del | CA645572848 | PTRH2 | c.357del (p.Ala120LeufsTer7) c.360del (p.Ala121LeufsTer7) n.45+9749del | COSMIC |
| 17 | g.59697623T>A | CA400429199 | PTRH2 | c.356A>T (p.Lys119Ile) c.359A>T (p.Lys120Ile) n.45+9748A>T | |
| 17 | g.59697623T>C | CA400429196 | PTRH2 | c.356A>G (p.Lys119Arg) c.359A>G (p.Lys120Arg) n.45+9748A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697623T>G | CA400429198 | PTRH2 | c.356A>C (p.Lys119Thr) c.359A>C (p.Lys120Thr) n.45+9748A>C | gnomAD v4 |
| 17 | g.59697623T= | CA2268261702 | PTRH2 | c.356A= (p.Lys119=) c.359A= (p.Lys120=) n.45+9748A= | |
| 17 | g.59697624T>A | CA400429202 | PTRH2 | c.355A>T (p.Lys119Ter) c.358A>T (p.Lys120Ter) n.45+9747A>T | |
| 17 | g.59697624T>C | CA400429205 | PTRH2 | c.355A>G (p.Lys119Glu) c.358A>G (p.Lys120Glu) n.45+9747A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697624T>G | CA8681913 | PTRH2 | c.355A>C (p.Lys119Gln) c.358A>C (p.Lys120Gln) n.45+9747A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697624T= | CA2268261705 | PTRH2 | c.355A= (p.Lys119=) c.358A= (p.Lys120=) n.45+9747A= | |
| 17 | g.59697625G>A | CA501331449 | PTRH2 | c.354C>T (p.Val118=) c.357C>T (p.Val119=) n.45+9746C>T | |
| 17 | g.59697625G>C | CA501331450 | PTRH2 | c.354C>G (p.Val118=) c.357C>G (p.Val119=) n.45+9746C>G | |
| 17 | g.59697625G>T | CA501331451 | PTRH2 | c.354C>A (p.Val118=) c.357C>A (p.Val119=) n.45+9746C>A | |
| 17 | g.59697626A>C | CA400429207 | PTRH2 | c.353T>G (p.Val118Gly) c.356T>G (p.Val119Gly) n.45+9745T>G | |
| 17 | g.59697626A>G | CA400429208 | PTRH2 | c.353T>C (p.Val118Ala) c.356T>C (p.Val119Ala) n.45+9745T>C | |
| 17 | g.59697626A>T | CA400429209 | PTRH2 | c.353T>A (p.Val118Asp) c.356T>A (p.Val119Asp) n.45+9745T>A | |
| 17 | g.59697627C>A | CA400429210 | PTRH2 | c.352G>T (p.Val118Phe) c.355G>T (p.Val119Phe) n.45+9744G>T | |
| 17 | g.59697627C>G | CA400429211 | PTRH2 | c.352G>C (p.Val118Leu) c.355G>C (p.Val119Leu) n.45+9744G>C | |
| 17 | g.59697627C>T | CA400429212 | PTRH2 | c.352G>A (p.Val118Ile) c.355G>A (p.Val119Ile) n.45+9744G>A | |
| 17 | g.59697628del | CA2639061187 | PTRH2 | c.352del (p.Val118SerfsTer9) c.355del (p.Val119SerfsTer9) n.45+9744del | gnomAD v4 |
| 17 | g.59697628C>A | CA501331452 | PTRH2 | c.351G>T (p.Val117=) c.354G>T (p.Val118=) n.45+9743G>T | |
| 17 | g.59697628C= | CA2268261709 | PTRH2 | c.351G= (p.Val117=) c.354G= (p.Val118=) n.45+9743G= | |
| 17 | g.59697628C>G | CA501331453 | PTRH2 | c.351G>C (p.Val117=) c.354G>C (p.Val118=) n.45+9743G>C | |
| 17 | g.59697628C>T | CA501331454 | PTRH2 | c.351G>A (p.Val117=) c.354G>A (p.Val118=) n.45+9743G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697629A>C | CA400429214 | PTRH2 | c.350T>G (p.Val117Gly) c.353T>G (p.Val118Gly) n.45+9742T>G | |
| 17 | g.59697629A>G | CA400429216 | PTRH2 | c.350T>C (p.Val117Ala) c.353T>C (p.Val118Ala) n.45+9742T>C | |
| 17 | g.59697629A>T | CA400429218 | PTRH2 | c.350T>A (p.Val117Glu) c.353T>A (p.Val118Glu) n.45+9742T>A | |
| 17 | g.59697630C>A | CA400429220 | PTRH2 | c.349G>T (p.Val117Leu) c.352G>T (p.Val118Leu) n.45+9741G>T | |
| 17 | g.59697630C= | CA2268261712 | PTRH2 | c.349G= (p.Val117=) c.352G= (p.Val118=) n.45+9741G= | |
| 17 | g.59697630C>G | CA292127126 | PTRH2 | c.349G>C (p.Val117Leu) c.352G>C (p.Val118Leu) n.45+9741G>C | dbSNP |
| 17 | g.59697630C>T | CA400429223 | PTRH2 | c.349G>A (p.Val117Met) c.352G>A (p.Val118Met) n.45+9741G>A | |
| 17 | g.59697631C>A | CA501331457 | PTRH2 | c.348G>T (p.Val116=) c.351G>T (p.Val117=) n.45+9740G>T | |
| 17 | g.59697631C>G | CA501331458 | PTRH2 | c.348G>C (p.Val116=) c.351G>C (p.Val117=) n.45+9740G>C | |
| 17 | g.59697631C>T | CA501331459 | PTRH2 | c.348G>A (p.Val116=) c.351G>A (p.Val117=) n.45+9740G>A | |
| 17 | g.59697632A>C | CA400429229 | PTRH2 | c.347T>G (p.Val116Gly) c.350T>G (p.Val117Gly) n.45+9739T>G | |
| 17 | g.59697632A>G | CA400429225 | PTRH2 | c.347T>C (p.Val116Ala) c.350T>C (p.Val117Ala) n.45+9739T>C | |
| 17 | g.59697632A>T | CA400429227 | PTRH2 | c.347T>A (p.Val116Glu) c.350T>A (p.Val117Glu) n.45+9739T>A |