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.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 | |
| 17 | g.59697633C>A | CA400429231 | PTRH2 | c.346G>T (p.Val116Leu) c.349G>T (p.Val117Leu) n.45+9738G>T | |
| 17 | g.59697633C>G | CA400429233 | PTRH2 | c.346G>C (p.Val116Leu) c.349G>C (p.Val117Leu) n.45+9738G>C | |
| 17 | g.59697633C>T | CA400429235 | PTRH2 | c.346G>A (p.Val116Met) c.349G>A (p.Val117Met) n.45+9738G>A | gnomAD v4 |
| 17 | g.59697634C>A | CA400429238 | PTRH2 | c.345G>T (p.Lys115Asn) c.348G>T (p.Lys116Asn) n.45+9737G>T | |
| 17 | g.59697634C>G | CA400429240 | PTRH2 | c.345G>C (p.Lys115Asn) c.348G>C (p.Lys116Asn) n.45+9737G>C | |
| 17 | g.59697634C>T | CA501331462 | PTRH2 | c.345G>A (p.Lys115=) c.348G>A (p.Lys116=) n.45+9737G>A | |
| 17 | g.59697635T>A | CA400429246 | PTRH2 | c.344A>T (p.Lys115Met) c.347A>T (p.Lys116Met) n.45+9736A>T | |
| 17 | g.59697635T>C | CA400429248 | PTRH2 | c.344A>G (p.Lys115Arg) c.347A>G (p.Lys116Arg) n.45+9736A>G | |
| 17 | g.59697635T>G | CA400429250 | PTRH2 | c.344A>C (p.Lys115Thr) c.347A>C (p.Lys116Thr) n.45+9736A>C | gnomAD v4 |
| 17 | g.59697636T>A | CA400429253 | PTRH2 | c.343A>T (p.Lys115Ter) c.346A>T (p.Lys116Ter) n.45+9735A>T | |
| 17 | g.59697636T>C | CA400429254 | PTRH2 | c.343A>G (p.Lys115Glu) c.346A>G (p.Lys116Glu) n.45+9735A>G | |
| 17 | g.59697636T>G | CA400429256 | PTRH2 | c.343A>C (p.Lys115Gln) c.346A>C (p.Lys116Gln) n.45+9735A>C | |
| 17 | g.59697637G>A | CA501331471 | PTRH2 | c.342C>T (p.Pro114=) c.345C>T (p.Pro115=) n.45+9734C>T | |
| 17 | g.59697637G>C | CA501331472 | PTRH2 | c.342C>G (p.Pro114=) c.345C>G (p.Pro115=) n.45+9734C>G | gnomAD v4 |
| 17 | g.59697637G>T | CA501331473 | PTRH2 | c.342C>A (p.Pro114=) c.345C>A (p.Pro115=) n.45+9734C>A | |
| 17 | g.59697638G>A | CA400429260 | PTRH2 | c.341C>T (p.Pro114Leu) c.344C>T (p.Pro115Leu) n.45+9733C>T | |
| 17 | g.59697638G>C | CA400429259 | PTRH2 | c.341C>G (p.Pro114Arg) c.344C>G (p.Pro115Arg) n.45+9733C>G | |
| 17 | g.59697638G>T | CA400429258 | PTRH2 | c.341C>A (p.Pro114His) c.344C>A (p.Pro115His) n.45+9733C>A | |
| 17 | g.59697639G>A | CA8681915 | PTRH2 | c.340C>T (p.Pro114Ser) c.343C>T (p.Pro115Ser) n.45+9732C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697639G>C | CA8681914 | PTRH2 | c.340C>G (p.Pro114Ala) c.343C>G (p.Pro115Ala) n.45+9732C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697639G= | CA2268261715 | PTRH2 | c.340C= (p.Pro114=) c.343C= (p.Pro115=) n.45+9732C= | |
| 17 | g.59697639G>T | CA400429265 | PTRH2 | c.340C>A (p.Pro114Thr) c.343C>A (p.Pro115Thr) n.45+9732C>A | |
| 17 | g.59697640C>A | CA400429272 | PTRH2 | c.339G>T (p.Gln113His) c.342G>T (p.Gln114His) n.45+9731G>T | |
| 17 | g.59697640C= | CA2268261720 | PTRH2 | c.339G= (p.Gln113=) c.342G= (p.Gln114=) n.45+9731G= | |
| 17 | g.59697640C>G | CA400429274 | PTRH2 | c.339G>C (p.Gln113His) c.342G>C (p.Gln114His) n.45+9731G>C | |
| 17 | g.59697640C>T | CA8681916 | PTRH2 | c.339G>A (p.Gln113=) c.342G>A (p.Gln114=) n.45+9731G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697641T>A | CA400429277 | PTRH2 | c.338A>T (p.Gln113Leu) c.341A>T (p.Gln114Leu) n.45+9730A>T | |
| 17 | g.59697641T>C | CA400429280 | PTRH2 | c.338A>G (p.Gln113Arg) c.341A>G (p.Gln114Arg) n.45+9730A>G | |
| 17 | g.59697641T>G | CA400429282 | PTRH2 | c.338A>C (p.Gln113Pro) c.341A>C (p.Gln114Pro) n.45+9730A>C | |
| 17 | g.59697642G>A | CA400429285 | PTRH2 | c.337C>T (p.Gln113Ter) c.340C>T (p.Gln114Ter) n.45+9729C>T | |
| 17 | g.59697642G>C | CA400429286 | PTRH2 | c.337C>G (p.Gln113Glu) c.340C>G (p.Gln114Glu) n.45+9729C>G | |
| 17 | g.59697642G>T | CA400429291 | PTRH2 | c.337C>A (p.Gln113Lys) c.340C>A (p.Gln114Lys) n.45+9729C>A | |
| 17 | g.59697643G>A | CA292127157 | PTRH2 | c.336C>T (p.Gly112=) c.339C>T (p.Gly113=) n.45+9728C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697643G>C | CA501331491 | PTRH2 | c.336C>G (p.Gly112=) c.339C>G (p.Gly113=) n.45+9728C>G | |
| 17 | g.59697643G= | CA2268261723 | PTRH2 | c.336C= (p.Gly112=) c.339C= (p.Gly113=) n.45+9728C= | |
| 17 | g.59697643G>T | CA501331492 | PTRH2 | c.336C>A (p.Gly112=) c.339C>A (p.Gly113=) n.45+9728C>A | |
| 17 | g.59697644C>A | CA400429303 | PTRH2 | c.335G>T (p.Gly112Val) c.338G>T (p.Gly113Val) n.45+9727G>T | |
| 17 | g.59697644C>G | CA400429300 | PTRH2 | c.335G>C (p.Gly112Ala) c.338G>C (p.Gly113Ala) n.45+9727G>C | |
| 17 | g.59697644C>T | CA400429298 | PTRH2 | c.335G>A (p.Gly112Asp) c.338G>A (p.Gly113Asp) n.45+9727G>A | |
| 17 | g.59697645C>A | CA400429305 | PTRH2 | c.334G>T (p.Gly112Cys) c.337G>T (p.Gly113Cys) n.45+9726G>T | |
| 17 | g.59697645C>G | CA400429307 | PTRH2 | c.334G>C (p.Gly112Arg) c.337G>C (p.Gly113Arg) n.45+9726G>C | |
| 17 | g.59697645C>T | CA400429309 | PTRH2 | c.334G>A (p.Gly112Ser) c.337G>A (p.Gly113Ser) n.45+9726G>A | |
| 17 | g.59697646A>C | CA400429311 | PTRH2 | c.333T>G (p.Cys111Trp) c.336T>G (p.Cys112Trp) n.45+9725T>G | |
| 17 | g.59697646A>G | CA501331496 | PTRH2 | c.333T>C (p.Cys111=) c.336T>C (p.Cys112=) n.45+9725T>C | gnomAD v3 gnomAD v4 |
| 17 | g.59697646A>T | CA400429312 | PTRH2 | c.333T>A (p.Cys111Ter) c.336T>A (p.Cys112Ter) n.45+9725T>A | |
| 17 | g.59697647C>A | CA400429315 | PTRH2 | c.332G>T (p.Cys111Phe) c.335G>T (p.Cys112Phe) n.45+9724G>T | |
| 17 | g.59697647C>G | CA400429318 | PTRH2 | c.332G>C (p.Cys111Ser) c.335G>C (p.Cys112Ser) n.45+9724G>C | |
| 17 | g.59697647C>T | CA400429320 | PTRH2 | c.332G>A (p.Cys111Tyr) c.335G>A (p.Cys112Tyr) n.45+9724G>A | gnomAD v4 |
| 17 | g.59697648A>C | CA400429323 | PTRH2 | c.331T>G (p.Cys111Gly) c.334T>G (p.Cys112Gly) n.45+9723T>G | |
| 17 | g.59697648A>G | CA400429324 | PTRH2 | c.331T>C (p.Cys111Arg) c.334T>C (p.Cys112Arg) n.45+9723T>C | gnomAD v4 |
| 17 | g.59697648A>T | CA400429326 | PTRH2 | c.331T>A (p.Cys111Ser) c.334T>A (p.Cys112Ser) n.45+9723T>A | |
| 17 | g.59697649G>A | CA501331499 | PTRH2 | c.330C>T (p.Tyr110=) c.333C>T (p.Tyr111=) n.45+9722C>T | |
| 17 | g.59697649G>C | CA400429329 | PTRH2 | c.330C>G (p.Tyr110Ter) c.333C>G (p.Tyr111Ter) n.45+9722C>G | |
| 17 | g.59697649G>T | CA400429331 | PTRH2 | c.330C>A (p.Tyr110Ter) c.333C>A (p.Tyr111Ter) n.45+9722C>A | |
| 17 | g.59697650T>A | CA400429339 | PTRH2 | c.329A>T (p.Tyr110Phe) c.332A>T (p.Tyr111Phe) n.45+9721A>T | |
| 17 | g.59697650T>C | CA400429337 | PTRH2 | c.329A>G (p.Tyr110Cys) c.332A>G (p.Tyr111Cys) n.45+9721A>G | |
| 17 | g.59697650T>G | CA400429334 | PTRH2 | c.329A>C (p.Tyr110Ser) c.332A>C (p.Tyr111Ser) n.45+9721A>C | |
| 17 | g.59697651A>C | CA400429342 | PTRH2 | c.328T>G (p.Tyr110Asp) c.331T>G (p.Tyr111Asp) n.45+9720T>G | |
| 17 | g.59697651A>G | CA400429348 | PTRH2 | c.328T>C (p.Tyr110His) c.331T>C (p.Tyr111His) n.45+9720T>C | |
| 17 | g.59697651A>T | CA400429344 | PTRH2 | c.328T>A (p.Tyr110Asn) c.331T>A (p.Tyr111Asn) n.45+9720T>A | |
| 17 | g.59697652T>A | CA400429351 | PTRH2 | c.327A>T (p.Glu109Asp) c.330A>T (p.Glu110Asp) n.45+9719A>T | |
| 17 | g.59697652T>C | CA501331510 | PTRH2 | c.327A>G (p.Glu109=) c.330A>G (p.Glu110=) n.45+9719A>G | |
| 17 | g.59697652T>G | CA400429352 | PTRH2 | c.327A>C (p.Glu109Asp) c.330A>C (p.Glu110Asp) n.45+9719A>C | |
| 17 | g.59697653T>A | CA400429353 | PTRH2 | c.326A>T (p.Glu109Val) c.329A>T (p.Glu110Val) n.45+9718A>T | gnomAD v4 |
| 17 | g.59697653T>C | CA400429354 | PTRH2 | c.326A>G (p.Glu109Gly) c.329A>G (p.Glu110Gly) n.45+9718A>G | |
| 17 | g.59697653T>G | CA400429355 | PTRH2 | c.326A>C (p.Glu109Ala) c.329A>C (p.Glu110Ala) n.45+9718A>C | |
| 17 | g.59697654C>A | CA400429358 | PTRH2 | c.325G>T (p.Glu109Ter) c.328G>T (p.Glu110Ter) n.45+9717G>T | |
| 17 | g.59697654C= | CA2268261728 | PTRH2 | c.325G= (p.Glu109=) c.328G= (p.Glu110=) n.45+9717G= | |
| 17 | g.59697654C>G | CA400429357 | PTRH2 | c.325G>C (p.Glu109Gln) c.328G>C (p.Glu110Gln) n.45+9717G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697654C>T | CA400429356 | PTRH2 | c.325G>A (p.Glu109Lys) c.328G>A (p.Glu110Lys) n.45+9717G>A | |
| 17 | g.59697655C>A | CA400429359 | PTRH2 | c.324G>T (p.Trp108Cys) c.327G>T (p.Trp109Cys) n.45+9716G>T | |
| 17 | g.59697655C= | CA2268261734 | PTRH2 | c.324G= (p.Trp108=) c.327G= (p.Trp109=) n.45+9716G= | |
| 17 | g.59697655C>G | CA400429360 | PTRH2 | c.324G>C (p.Trp108Cys) c.327G>C (p.Trp109Cys) n.45+9716G>C | |
| 17 | g.59697655C>T | CA400429361 | PTRH2 | c.324G>A (p.Trp108Ter) c.327G>A (p.Trp109Ter) n.45+9716G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697656C>A | CA400429362 | PTRH2 | c.323G>T (p.Trp108Leu) c.326G>T (p.Trp109Leu) n.45+9715G>T | |
| 17 | g.59697656C= | CA2268261737 | PTRH2 | c.323G= (p.Trp108=) c.326G= (p.Trp109=) n.45+9715G= | |
| 17 | g.59697656C>G | CA400429363 | PTRH2 | c.323G>C (p.Trp108Ser) c.326G>C (p.Trp109Ser) n.45+9715G>C | |
| 17 | g.59697656C>T | CA400429364 | PTRH2 | c.323G>A (p.Trp108Ter) c.326G>A (p.Trp109Ter) n.45+9715G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697657A= | CA2268261739 | PTRH2 | c.322T= (p.Trp108=) c.325T= (p.Trp109=) n.45+9714T= | |
| 17 | g.59697657A>C | CA400429367 | PTRH2 | c.322T>G (p.Trp108Gly) c.325T>G (p.Trp109Gly) n.45+9714T>G | |
| 17 | g.59697657A>G | CA400429365 | PTRH2 | c.322T>C (p.Trp108Arg) c.325T>C (p.Trp109Arg) n.45+9714T>C | |
| 17 | g.59697657A>T | CA400429366 | PTRH2 | c.322T>A (p.Trp108Arg) c.325T>A (p.Trp109Arg) n.45+9714T>A | |
| 17 | g.59697658T>A | CA400429368 | PTRH2 | c.321A>T (p.Gln107His) c.324A>T (p.Gln108His) n.45+9713A>T | |
| 17 | g.59697658T>C | CA8681917 | PTRH2 | c.321A>G (p.Gln107=) c.324A>G (p.Gln108=) n.45+9713A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697658T>G | CA400429369 | PTRH2 | c.321A>C (p.Gln107His) c.324A>C (p.Gln108His) n.45+9713A>C | |
| 17 | g.59697658T= | CA2268261743 | PTRH2 | c.321A= (p.Gln107=) c.324A= (p.Gln108=) n.45+9713A= | |
| 17 | g.59697661_59697664dup | CA292127159 | PTRH2 | c.318_321dup (p.Trp108ThrfsTer16) c.321_324dup (p.Trp109ThrfsTer16) n.45+9710_45+9713dup | dbSNP gnomAD v4 |
| 17 | g.59697661_59697664del | CA2639061188 | PTRH2 | c.318_321del (p.Lys106AsnfsTer20) c.321_324del (p.Lys107AsnfsTer20) n.45+9710_45+9713del | gnomAD v4 |
| 17 | g.59697659T>A | CA400429370 | PTRH2 | c.320A>T (p.Gln107Leu) c.323A>T (p.Gln108Leu) n.45+9712A>T | |
| 17 | g.59697659T>C | CA400429371 | PTRH2 | c.320A>G (p.Gln107Arg) c.323A>G (p.Gln108Arg) n.45+9712A>G | |
| 17 | g.59697659T>G | CA400429372 | PTRH2 | c.320A>C (p.Gln107Pro) c.323A>C (p.Gln108Pro) n.45+9712A>C | |
| 17 | g.59697660G>A | CA400429373 | PTRH2 | c.319C>T (p.Gln107Ter) c.322C>T (p.Gln108Ter) n.45+9711C>T | |
| 17 | g.59697660G>C | CA400429374 | PTRH2 | c.319C>G (p.Gln107Glu) c.322C>G (p.Gln108Glu) n.45+9711C>G | |
| 17 | g.59697660G>T | CA400429375 | PTRH2 | c.319C>A (p.Gln107Lys) c.322C>A (p.Gln108Lys) n.45+9711C>A | |
| 17 | g.59697661T>A | CA400429376 | PTRH2 | c.318A>T (p.Lys106Asn) c.321A>T (p.Lys107Asn) n.45+9710A>T | |
| 17 | g.59697661T>C | CA501331527 | PTRH2 | c.318A>G (p.Lys106=) c.321A>G (p.Lys107=) n.45+9710A>G | |
| 17 | g.59697661T>G | CA400429377 | PTRH2 | c.318A>C (p.Lys106Asn) c.321A>C (p.Lys107Asn) n.45+9710A>C | |
| 17 | g.59697662T>A | CA400429378 | PTRH2 | c.317A>T (p.Lys106Ile) c.320A>T (p.Lys107Ile) n.45+9709A>T | |
| 17 | g.59697662T>C | CA400429380 | PTRH2 | c.317A>G (p.Lys106Arg) c.320A>G (p.Lys107Arg) n.45+9709A>G | |
| 17 | g.59697662T>G | CA400429379 | PTRH2 | c.317A>C (p.Lys106Thr) c.320A>C (p.Lys107Thr) n.45+9709A>C | |
| 17 | g.59697663T>A | CA400429381 | PTRH2 | c.316A>T (p.Lys106Ter) c.319A>T (p.Lys107Ter) n.45+9708A>T | |
| 17 | g.59697663T>C | CA400429382 | PTRH2 | c.316A>G (p.Lys106Glu) c.319A>G (p.Lys107Glu) n.45+9708A>G | |
| 17 | g.59697663T>G | CA400429383 | PTRH2 | c.316A>C (p.Lys106Gln) c.319A>C (p.Lys107Gln) n.45+9708A>C | gnomAD v4 |
| 17 | g.59697664G>A | CA292127166 | PTRH2 | c.315C>T (p.Leu105=) c.318C>T (p.Leu106=) n.45+9707C>T | dbSNP |
| 17 | g.59697664G>C | CA501331529 | PTRH2 | c.315C>G (p.Leu105=) c.318C>G (p.Leu106=) n.45+9707C>G | gnomAD v4 |
| 17 | g.59697664G= | CA2268261746 | PTRH2 | c.315C= (p.Leu105=) c.318C= (p.Leu106=) n.45+9707C= | |
| 17 | g.59697664G>T | CA501331532 | PTRH2 | c.315C>A (p.Leu105=) c.318C>A (p.Leu106=) n.45+9707C>A | COSMIC |
| 17 | g.59697665A>C | CA400429384 | PTRH2 | c.314T>G (p.Leu105Arg) c.317T>G (p.Leu106Arg) n.45+9706T>G | gnomAD v4 |
| 17 | g.59697665A>G | CA400429385 | PTRH2 | c.314T>C (p.Leu105Pro) c.317T>C (p.Leu106Pro) n.45+9706T>C | |
| 17 | g.59697665A>T | CA400429386 | PTRH2 | c.314T>A (p.Leu105His) c.317T>A (p.Leu106His) n.45+9706T>A | |
| 17 | g.59697666G>A | CA400429387 | PTRH2 | c.313C>T (p.Leu105Phe) c.316C>T (p.Leu106Phe) n.45+9705C>T | |
| 17 | g.59697666G>C | CA400429388 | PTRH2 | c.313C>G (p.Leu105Val) c.316C>G (p.Leu106Val) n.45+9705C>G | |
| 17 | g.59697666G= | CA2268261748 | PTRH2 | c.313C= (p.Leu105=) c.316C= (p.Leu106=) n.45+9705C= | |
| 17 | g.59697666G>T | CA400429389 | PTRH2 | c.313C>A (p.Leu105Ile) c.316C>A (p.Leu106Ile) n.45+9705C>A | dbSNP gnomAD v4 |
| 17 | g.59697667C>A | CA400429390 | PTRH2 | c.312G>T (p.Met104Ile) c.315G>T (p.Met105Ile) n.45+9704G>T | |
| 17 | g.59697667C= | CA2268261751 | PTRH2 | c.312G= (p.Met104=) c.315G= (p.Met105=) n.45+9704G= | |
| 17 | g.59697667C>G | CA400429391 | PTRH2 | c.312G>C (p.Met104Ile) c.315G>C (p.Met105Ile) n.45+9704G>C | |
| 17 | g.59697667C>T | CA8681918 | PTRH2 | c.312G>A (p.Met104Ile) c.315G>A (p.Met105Ile) n.45+9704G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697668A>C | CA400429394 | PTRH2 | c.311T>G (p.Met104Arg) c.314T>G (p.Met105Arg) n.45+9703T>G | |
| 17 | g.59697668A>G | CA400429392 | PTRH2 | c.311T>C (p.Met104Thr) c.314T>C (p.Met105Thr) n.45+9703T>C | |
| 17 | g.59697668A>T | CA400429393 | PTRH2 | c.311T>A (p.Met104Lys) c.314T>A (p.Met105Lys) n.45+9703T>A | |
| 17 | g.59697669T>A | CA400429395 | PTRH2 | c.310A>T (p.Met104Leu) c.313A>T (p.Met105Leu) n.45+9702A>T | |
| 17 | g.59697669T>C | CA400429396 | PTRH2 | c.310A>G (p.Met104Val) c.313A>G (p.Met105Val) n.45+9702A>G | |
| 17 | g.59697669T>G | CA400429397 | PTRH2 | c.310A>C (p.Met104Leu) c.313A>C (p.Met105Leu) n.45+9702A>C | |
| 17 | g.59697670T>A | CA400429398 | PTRH2 | c.309A>T (p.Glu103Asp) c.312A>T (p.Glu104Asp) n.45+9701A>T | |
| 17 | g.59697670T>C | CA501331544 | PTRH2 | c.309A>G (p.Glu103=) c.312A>G (p.Glu104=) n.45+9701A>G | |
| 17 | g.59697670T>G | CA400429399 | PTRH2 | c.309A>C (p.Glu103Asp) c.312A>C (p.Glu104Asp) n.45+9701A>C | |
| 17 | g.59697671T>A | CA400429400 | PTRH2 | c.308A>T (p.Glu103Val) c.311A>T (p.Glu104Val) n.45+9700A>T | |
| 17 | g.59697671T>C | CA400429401 | PTRH2 | c.308A>G (p.Glu103Gly) c.311A>G (p.Glu104Gly) n.45+9700A>G | |
| 17 | g.59697671T>G | CA292127179 | PTRH2 | c.308A>C (p.Glu103Ala) c.311A>C (p.Glu104Ala) n.45+9700A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697671T= | CA2268261755 | PTRH2 | c.308A= (p.Glu103=) c.311A= (p.Glu104=) n.45+9700A= | |
| 17 | g.59697671_59697672insTTAGAGTAAGTGA | CA2268261760 | PTRH2 | c.307_308insTCACTTACTCTAA (p.Glu103ValfsTer24) c.310_311insTCACTTACTCTAA (p.Glu104ValfsTer24) n.45+9699_45+9700insTCACTTACTCTAA | dbSNP |
| 17 | g.59697672C>A | CA400429402 | PTRH2 | c.307G>T (p.Glu103Ter) c.310G>T (p.Glu104Ter) n.45+9699G>T | |
| 17 | g.59697672C>G | CA400429403 | PTRH2 | c.307G>C (p.Glu103Gln) c.310G>C (p.Glu104Gln) n.45+9699G>C | |
| 17 | g.59697672C>T | CA400429404 | PTRH2 | c.307G>A (p.Glu103Lys) c.310G>A (p.Glu104Lys) n.45+9699G>A | |
| 17 | g.59697673A= | CA2268261761 | PTRH2 | c.306T= (p.Pro102=) c.309T= (p.Pro103=) n.45+9698T= | |
| 17 | g.59697673A>C | CA501331548 | PTRH2 | c.306T>G (p.Pro102=) c.309T>G (p.Pro103=) n.45+9698T>G | |
| 17 | g.59697673A>G | CA501331549 | PTRH2 | c.306T>C (p.Pro102=) c.309T>C (p.Pro103=) n.45+9698T>C | |
| 17 | g.59697673A>T | CA501331550 | PTRH2 | c.306T>A (p.Pro102=) c.309T>A (p.Pro103=) n.45+9698T>A | |
| 17 | g.59697673_59697674insTGT | CA2268261763 | PTRH2 | c.305_306insACA (p.Pro102_Glu103insHis) c.308_309insACA (p.Pro103_Glu104insHis) n.45+9697_45+9698insACA | dbSNP |
| 17 | g.59697674G>A | CA400429407 | PTRH2 | c.305C>T (p.Pro102Leu) c.308C>T (p.Pro103Leu) n.45+9697C>T | |
| 17 | g.59697674G>C | CA400429406 | PTRH2 | c.305C>G (p.Pro102Arg) c.308C>G (p.Pro103Arg) n.45+9697C>G | |
| 17 | g.59697674G>T | CA400429405 | PTRH2 | c.305C>A (p.Pro102His) c.308C>A (p.Pro103His) n.45+9697C>A | |
| 17 | g.59697675G>A | CA400429409 | PTRH2 | c.304C>T (p.Pro102Ser) c.307C>T (p.Pro103Ser) n.45+9696C>T | |
| 17 | g.59697675G>C | CA400429408 | PTRH2 | c.304C>G (p.Pro102Ala) c.307C>G (p.Pro103Ala) n.45+9696C>G | |
| 17 | g.59697675G>T | CA400429410 | PTRH2 | c.304C>A (p.Pro102Thr) c.307C>A (p.Pro103Thr) n.45+9696C>A | |
| 17 | g.59697676A>C | CA400429411 | PTRH2 | c.303T>G (p.Asn101Lys) c.306T>G (p.Asn102Lys) n.45+9695T>G | |
| 17 | g.59697676A>G | CA501331553 | PTRH2 | c.303T>C (p.Asn101=) c.306T>C (p.Asn102=) n.45+9695T>C | |
| 17 | g.59697676A>T | CA400429412 | PTRH2 | c.303T>A (p.Asn101Lys) c.306T>A (p.Asn102Lys) n.45+9695T>A | |
| 17 | g.59697677T>A | CA400429413 | PTRH2 | c.302A>T (p.Asn101Ile) c.305A>T (p.Asn102Ile) n.45+9694A>T | |
| 17 | g.59697677T>C | CA400429414 | PTRH2 | c.302A>G (p.Asn101Ser) c.305A>G (p.Asn102Ser) n.45+9694A>G | |
| 17 | g.59697677T>G | CA400429415 | PTRH2 | c.302A>C (p.Asn101Thr) c.305A>C (p.Asn102Thr) n.45+9694A>C | |
| 17 | g.59697677T= | CA2268261766 | PTRH2 | c.302A= (p.Asn101=) c.305A= (p.Asn102=) n.45+9694A= | |
| 17 | g.59697677_59697680delinsTTTC | CA2268261765 | PTRH2 | c.299_302delinsGAAA (p.Arg100=) c.302_305delinsGAAA (p.Arg101=) n.45+9691_45+9694delinsGAAA | |
| 17 | g.59697677_59697678insGA | CA627145083 | PTRH2 | c.301_302insTC (p.Asn101IlefsTer27) c.304_305insTC (p.Asn102IlefsTer27) n.45+9693_45+9694insTC | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697678T>A | CA400429416 | PTRH2 | c.301A>T (p.Asn101Tyr) c.304A>T (p.Asn102Tyr) n.45+9693A>T | |
| 17 | g.59697678T>C | CA400429417 | PTRH2 | c.301A>G (p.Asn101Asp) c.304A>G (p.Asn102Asp) n.45+9693A>G | |
| 17 | g.59697678T>G | CA400429418 | PTRH2 | c.301A>C (p.Asn101His) c.304A>C (p.Asn102His) n.45+9693A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697678T= | CA2268261771 | PTRH2 | c.301A= (p.Asn101=) c.304A= (p.Asn102=) n.45+9693A= | |
| 17 | g.59697678_59697680delinsTTC | CA2268261773 | PTRH2 | c.299_301delinsGAA (p.Arg100=) c.302_304delinsGAA (p.Arg101=) n.45+9691_45+9693delinsGAA | |
| 17 | g.59697683_59697685del | CA292127183 | PTRH2 | c.299_301del (p.Arg100del) c.302_304del (p.Arg101del) n.45+9691_45+9693del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697679T>A | CA400429419 | PTRH2 | c.300A>T (p.Arg100Ser) c.303A>T (p.Arg101Ser) n.45+9692A>T | |
| 17 | g.59697679T>C | CA501331561 | PTRH2 | c.300A>G (p.Arg100=) c.303A>G (p.Arg101=) n.45+9692A>G | |
| 17 | g.59697679T>G | CA400429420 | PTRH2 | c.300A>C (p.Arg100Ser) c.303A>C (p.Arg101Ser) n.45+9692A>C | |
| 17 | g.59697680_59697681del | CA627145084 | PTRH2 | c.299_300del (p.Arg100LysfsTer3) c.302_303del (p.Arg101LysfsTer3) n.45+9691_45+9692del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697680C>A | CA400429421 | PTRH2 | c.299G>T (p.Arg100Ile) c.302G>T (p.Arg101Ile) n.45+9691G>T | |
| 17 | g.59697680C>G | CA400429422 | PTRH2 | c.299G>C (p.Arg100Thr) c.302G>C (p.Arg101Thr) n.45+9691G>C | |
| 17 | g.59697680C>T | CA400429423 | PTRH2 | c.299G>A (p.Arg100Lys) c.302G>A (p.Arg101Lys) n.45+9691G>A | COSMIC |
| 17 | g.59697681T>A | CA400429426 | PTRH2 | c.298A>T (p.Arg100Ter) c.301A>T (p.Arg101Ter) n.45+9690A>T | |
| 17 | g.59697681T>C | CA400429424 | PTRH2 | c.298A>G (p.Arg100Gly) c.301A>G (p.Arg101Gly) n.45+9690A>G | |
| 17 | g.59697681T>G | CA501331565 | PTRH2 | c.298A>C (p.Arg100=) c.301A>C (p.Arg101=) n.45+9690A>C | |
| 17 | g.59697682T>A | CA400429429 | PTRH2 | c.297A>T (p.Arg99Ser) c.300A>T (p.Arg100Ser) n.45+9689A>T | |
| 17 | g.59697682T>C | CA501331570 | PTRH2 | c.297A>G (p.Arg99=) c.300A>G (p.Arg100=) n.45+9689A>G | |
| 17 | g.59697682T>G | CA400429431 | PTRH2 | c.297A>C (p.Arg99Ser) c.300A>C (p.Arg100Ser) n.45+9689A>C | |
| 17 | g.59697683C>A | CA400429434 | PTRH2 | c.296G>T (p.Arg99Ile) c.299G>T (p.Arg100Ile) n.45+9688G>T | COSMIC |
| 17 | g.59697683C>G | CA400429436 | PTRH2 | c.296G>C (p.Arg99Thr) c.299G>C (p.Arg100Thr) n.45+9688G>C | |
| 17 | g.59697683C>T | CA400429438 | PTRH2 | c.296G>A (p.Arg99Lys) c.299G>A (p.Arg100Lys) n.45+9688G>A | |
| 17 | g.59697684T>A | CA400429440 | PTRH2 | c.295A>T (p.Arg99Ter) c.298A>T (p.Arg100Ter) n.45+9687A>T | |
| 17 | g.59697684T>C | CA400429442 | PTRH2 | c.295A>G (p.Arg99Gly) c.298A>G (p.Arg100Gly) n.45+9687A>G | |
| 17 | g.59697684T>G | CA501331574 | PTRH2 | c.295A>C (p.Arg99=) c.298A>C (p.Arg100=) n.45+9687A>C | |
| 17 | g.59697685T>A | CA400429445 | PTRH2 | c.294A>T (p.Gln98His) c.297A>T (p.Gln99His) n.45+9686A>T | |
| 17 | g.59697685T>C | CA501331575 | PTRH2 | c.294A>G (p.Gln98=) c.297A>G (p.Gln99=) n.45+9686A>G | gnomAD v4 |
| 17 | g.59697685T>G | CA400429448 | PTRH2 | c.294A>C (p.Gln98His) c.297A>C (p.Gln99His) n.45+9686A>C | |
| 17 | g.59697686T>A | CA400429451 | PTRH2 | c.293A>T (p.Gln98Leu) c.296A>T (p.Gln99Leu) n.45+9685A>T | |
| 17 | g.59697686T>C | CA400429453 | PTRH2 | c.293A>G (p.Gln98Arg) c.296A>G (p.Gln99Arg) n.45+9685A>G | |
| 17 | g.59697686T>G | CA400429455 | PTRH2 | c.293A>C (p.Gln98Pro) c.296A>C (p.Gln99Pro) n.45+9685A>C | |
| 17 | g.59697687G>A | CA400429461 | PTRH2 | c.292C>T (p.Gln98Ter) c.295C>T (p.Gln99Ter) n.45+9684C>T | |
| 17 | g.59697687G>C | CA400429460 | PTRH2 | c.292C>G (p.Gln98Glu) c.295C>G (p.Gln99Glu) n.45+9684C>G | |
| 17 | g.59697687G>T | CA400429458 | PTRH2 | c.292C>A (p.Gln98Lys) c.295C>A (p.Gln99Lys) n.45+9684C>A | |
| 17 | g.59697688A>C | CA400429464 | PTRH2 | c.291T>G (p.Ile97Met) c.294T>G (p.Ile98Met) n.45+9683T>G | |
| 17 | g.59697688A>G | CA501331581 | PTRH2 | c.291T>C (p.Ile97=) c.294T>C (p.Ile98=) n.45+9683T>C | |
| 17 | g.59697688A>T | CA501331582 | PTRH2 | c.291T>A (p.Ile97=) c.294T>A (p.Ile98=) n.45+9683T>A | |
| 17 | g.59697689A= | CA2268261778 | PTRH2 | c.290T= (p.Ile97=) c.293T= (p.Ile98=) n.45+9682T= | |
| 17 | g.59697689A>C | CA400429466 | PTRH2 | c.290T>G (p.Ile97Ser) c.293T>G (p.Ile98Ser) n.45+9682T>G | |
| 17 | g.59697689A>G | CA8681919 | PTRH2 | c.290T>C (p.Ile97Thr) c.293T>C (p.Ile98Thr) n.45+9682T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697689A>T | CA400429469 | PTRH2 | c.290T>A (p.Ile97Asn) c.293T>A (p.Ile98Asn) n.45+9682T>A | |
| 17 | g.59697690T>A | CA400429473 | PTRH2 | c.289A>T (p.Ile97Phe) c.292A>T (p.Ile98Phe) n.45+9681A>T | |
| 17 | g.59697690T>C | CA400429475 | PTRH2 | c.289A>G (p.Ile97Val) c.292A>G (p.Ile98Val) n.45+9681A>G | |
| 17 | g.59697690T>G | CA400429476 | PTRH2 | c.289A>C (p.Ile97Leu) c.292A>C (p.Ile98Leu) n.45+9681A>C | |
| 17 | g.59697691C>A | CA400429479 | PTRH2 | c.288G>T (p.Gln96His) c.291G>T (p.Gln97His) n.45+9680G>T | |
| 17 | g.59697691C>G | CA400429481 | PTRH2 | c.288G>C (p.Gln96His) c.291G>C (p.Gln97His) n.45+9680G>C | |
| 17 | g.59697691C>T | CA501331585 | PTRH2 | c.288G>A (p.Gln96=) c.291G>A (p.Gln97=) n.45+9680G>A | |
| 17 | g.59697692T>A | CA400429486 | PTRH2 | c.287A>T (p.Gln96Leu) c.290A>T (p.Gln97Leu) n.45+9679A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697692T>C | CA400429489 | PTRH2 | c.287A>G (p.Gln96Arg) c.290A>G (p.Gln97Arg) n.45+9679A>G | |
| 17 | g.59697692T>G | CA400429492 | PTRH2 | c.287A>C (p.Gln96Pro) c.290A>C (p.Gln97Pro) n.45+9679A>C | |
| 17 | g.59697692T= | CA2268261783 | PTRH2 | c.287A= (p.Gln96=) c.290A= (p.Gln97=) n.45+9679A= | |
| 17 | g.59697693G>A | CA400429497 | PTRH2 | c.286C>T (p.Gln96Ter) c.289C>T (p.Gln97Ter) n.45+9678C>T | |
| 17 | g.59697693G>C | CA400429496 | PTRH2 | c.286C>G (p.Gln96Glu) c.289C>G (p.Gln97Glu) n.45+9678C>G | |
| 17 | g.59697693G>T | CA400429495 | PTRH2 | c.286C>A (p.Gln96Lys) c.289C>A (p.Gln97Lys) n.45+9678C>A | |
| 17 | g.59697693_59697694insGCTGTTTTACGAGGGTCAATATCTGGGATATAGGGACTTTCTAAAGCCTTGCTGAGGATGCTTTTCT | CA2741546233 | PTRH2 | c.285_286insAGAAAAGCATCCTCAGCAAGGCTTTAGAAAGTCCCTATATCCCAGATATTGACCCTCGTAAAACAGC (p.Gln96ArgfsTer9) c.288_289insAGAAAAGCATCCTCAGCAAGGCTTTAGAAAGTCCCTATATCCCAGATATTGACCCTCGTAAAACAGC (p.Gln97ArgfsTer9) n.45+9677_45+9678insAGAAAAGCATCCTCAGCAAGGCTTTAGAAAGTCCCTATATCCCAGATATTGACCCTCGTAAAACAGC | |
| 17 | g.59697694C>A | CA400429499 | PTRH2 | c.285G>T (p.Lys95Asn) c.288G>T (p.Lys96Asn) n.45+9677G>T | |
| 17 | g.59697694C= | CA2268261785 | PTRH2 | c.285G= (p.Lys95=) c.288G= (p.Lys96=) n.45+9677G= | |
| 17 | g.59697694C>G | CA400429500 | PTRH2 | c.285G>C (p.Lys95Asn) c.288G>C (p.Lys96Asn) n.45+9677G>C | |
| 17 | g.59697694C>T | CA501331589 | PTRH2 | c.285G>A (p.Lys95=) c.288G>A (p.Lys96=) n.45+9677G>A | dbSNP COSMIC |
| 17 | g.59697695T>A | CA400429504 | PTRH2 | c.284A>T (p.Lys95Met) c.287A>T (p.Lys96Met) n.45+9676A>T | |
| 17 | g.59697695T>C | CA8681920 | PTRH2 | c.284A>G (p.Lys95Arg) c.287A>G (p.Lys96Arg) n.45+9676A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697695T>G | CA400429510 | PTRH2 | c.284A>C (p.Lys95Thr) c.287A>C (p.Lys96Thr) n.45+9676A>C | |
| 17 | g.59697695T= | CA2268261790 | PTRH2 | c.284A= (p.Lys95=) c.287A= (p.Lys96=) n.45+9676A= | |
| 17 | g.59697696T>A | CA400429515 | PTRH2 | c.283A>T (p.Lys95Ter) c.286A>T (p.Lys96Ter) n.45+9675A>T | |
| 17 | g.59697696T>C | CA400429518 | PTRH2 | c.283A>G (p.Lys95Glu) c.286A>G (p.Lys96Glu) n.45+9675A>G | dbSNP gnomAD v4 |
| 17 | g.59697696T>G | CA400429521 | PTRH2 | c.283A>C (p.Lys95Gln) c.286A>C (p.Lys96Gln) n.45+9675A>C | |
| 17 | g.59697696T= | CA2268261792 | PTRH2 | c.283A= (p.Lys95=) c.286A= (p.Lys96=) n.45+9675A= | |
| 17 | g.59697697G>A | CA501331594 | PTRH2 | c.282C>T (p.Tyr94=) c.285C>T (p.Tyr95=) n.45+9674C>T | dbSNP gnomAD v4 |
| 17 | g.59697697G>C | CA400429525 | PTRH2 | c.282C>G (p.Tyr94Ter) c.285C>G (p.Tyr95Ter) n.45+9674C>G | gnomAD v4 |
| 17 | g.59697697G= | CA2268261796 | PTRH2 | c.282C= (p.Tyr94=) c.285C= (p.Tyr95=) n.45+9674C= | |
| 17 | g.59697697G>T | CA400429528 | PTRH2 | c.282C>A (p.Tyr94Ter) c.285C>A (p.Tyr95Ter) n.45+9674C>A | |
| 17 | g.59697698T>A | CA400429532 | PTRH2 | c.281A>T (p.Tyr94Phe) c.284A>T (p.Tyr95Phe) n.45+9673A>T | |
| 17 | g.59697698T>C | CA400429537 | PTRH2 | c.281A>G (p.Tyr94Cys) c.284A>G (p.Tyr95Cys) n.45+9673A>G | gnomAD v4 |
| 17 | g.59697698T>G | CA400429539 | PTRH2 | c.281A>C (p.Tyr94Ser) c.284A>C (p.Tyr95Ser) n.45+9673A>C | |
| 17 | g.59697699A>C | CA400429549 | PTRH2 | c.280T>G (p.Tyr94Asp) c.283T>G (p.Tyr95Asp) n.45+9672T>G | |
| 17 | g.59697699A>G | CA400429545 | PTRH2 | c.280T>C (p.Tyr94His) c.283T>C (p.Tyr95His) n.45+9672T>C | gnomAD v4 |
| 17 | g.59697699A>T | CA400429543 | PTRH2 | c.280T>A (p.Tyr94Asn) c.283T>A (p.Tyr95Asn) n.45+9672T>A | |
| 17 | g.59697700G>A | CA501331598 | PTRH2 | c.279C>T (p.Ala93=) c.282C>T (p.Ala94=) n.45+9671C>T | COSMIC |
| 17 | g.59697700G>C | CA501331599 | PTRH2 | c.279C>G (p.Ala93=) c.282C>G (p.Ala94=) n.45+9671C>G | |
| 17 | g.59697700G>T | CA501331600 | PTRH2 | c.279C>A (p.Ala93=) c.282C>A (p.Ala94=) n.45+9671C>A | |
| 17 | g.59697701G>A | CA400429553 | PTRH2 | c.278C>T (p.Ala93Val) c.281C>T (p.Ala94Val) n.45+9670C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697701G>C | CA400429562 | PTRH2 | c.278C>G (p.Ala93Gly) c.281C>G (p.Ala94Gly) n.45+9670C>G | |
| 17 | g.59697701G= | CA2268261800 | PTRH2 | c.278C= (p.Ala93=) c.281C= (p.Ala94=) n.45+9670C= | |
| 17 | g.59697701G>T | CA400429558 | PTRH2 | c.278C>A (p.Ala93Asp) c.281C>A (p.Ala94Asp) n.45+9670C>A | |
| 17 | g.59697702C>A | CA400429568 | PTRH2 | c.277G>T (p.Ala93Ser) c.280G>T (p.Ala94Ser) n.45+9669G>T | |
| 17 | g.59697702C= | CA2268261804 | PTRH2 | c.277G= (p.Ala93=) c.280G= (p.Ala94=) n.45+9669G= | |
| 17 | g.59697702C>G | CA400429573 | PTRH2 | c.277G>C (p.Ala93Pro) c.280G>C (p.Ala94Pro) n.45+9669G>C | |
| 17 | g.59697702C>T | CA8681921 | PTRH2 | c.277G>A (p.Ala93Thr) c.280G>A (p.Ala94Thr) n.45+9669G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697703T>A | CA501331603 | PTRH2 | c.276A>T (p.Ser92=) c.279A>T (p.Ser93=) n.45+9668A>T | |
| 17 | g.59697703T>C | CA501331604 | PTRH2 | c.276A>G (p.Ser92=) c.279A>G (p.Ser93=) n.45+9668A>G | |
| 17 | g.59697703T>G | CA501331605 | PTRH2 | c.276A>C (p.Ser92=) c.279A>C (p.Ser93=) n.45+9668A>C | |
| 17 | g.59697704G>A | CA400429579 | PTRH2 | c.275C>T (p.Ser92Leu) c.278C>T (p.Ser93Leu) n.45+9667C>T | gnomAD v4 COSMIC |
| 17 | g.59697704G>C | CA400429582 | PTRH2 | c.275C>G (p.Ser92Ter) c.278C>G (p.Ser93Ter) n.45+9667C>G | |
| 17 | g.59697704G>T | CA400429583 | PTRH2 | c.275C>A (p.Ser92Ter) c.278C>A (p.Ser93Ter) n.45+9667C>A | |
| 17 | g.59697705A>C | CA400429584 | PTRH2 | c.274T>G (p.Ser92Ala) c.277T>G (p.Ser93Ala) n.45+9666T>G | |
| 17 | g.59697705A>G | CA400429586 | PTRH2 | c.274T>C (p.Ser92Pro) c.277T>C (p.Ser93Pro) n.45+9666T>C | |
| 17 | g.59697705A>T | CA400429588 | PTRH2 | c.274T>A (p.Ser92Thr) c.277T>A (p.Ser93Thr) n.45+9666T>A | |
| 17 | g.59697706A>C | CA501331612 | PTRH2 | c.273T>G (p.Val91=) c.276T>G (p.Val92=) n.45+9665T>G | |
| 17 | g.59697706A>G | CA501331614 | PTRH2 | c.273T>C (p.Val91=) c.276T>C (p.Val92=) n.45+9665T>C | |
| 17 | g.59697706A>T | CA501331616 | PTRH2 | c.273T>A (p.Val91=) c.276T>A (p.Val92=) n.45+9665T>A | |
| 17 | g.59697707A>C | CA400429591 | PTRH2 | c.272T>G (p.Val91Gly) c.275T>G (p.Val92Gly) n.45+9664T>G | |
| 17 | g.59697707A>G | CA400429596 | PTRH2 | c.272T>C (p.Val91Ala) c.275T>C (p.Val92Ala) n.45+9664T>C | |
| 17 | g.59697707A>T | CA400429600 | PTRH2 | c.272T>A (p.Val91Asp) c.275T>A (p.Val92Asp) n.45+9664T>A | |
| 17 | g.59697708C>A | CA400429603 | PTRH2 | c.271G>T (p.Val91Phe) c.274G>T (p.Val92Phe) n.45+9663G>T | |
| 17 | g.59697708C= | CA2268261810 | PTRH2 | c.271G= (p.Val91=) c.274G= (p.Val92=) n.45+9663G= | |
| 17 | g.59697708C>G | CA400429611 | PTRH2 | c.271G>C (p.Val91Leu) c.274G>C (p.Val92Leu) n.45+9663G>C | |
| 17 | g.59697708C>T | CA400429615 | PTRH2 | c.271G>A (p.Val91Ile) c.274G>A (p.Val92Ile) n.45+9663G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697708_59697710delinsCAG | CA2268261809 | PTRH2 | c.269_271delinsCTG (p.Ala90=) c.272_274delinsCTG (p.Ala91=) n.45+9661_45+9663delinsCTG | |
| 17 | g.59697709A>C | CA501331620 | PTRH2 | c.270T>G (p.Ala90=) c.273T>G (p.Ala91=) n.45+9662T>G | |
| 17 | g.59697709A>G | CA501331622 | PTRH2 | c.270T>C (p.Ala90=) c.273T>C (p.Ala91=) n.45+9662T>C | gnomAD v4 |
| 17 | g.59697709A>T | CA501331624 | PTRH2 | c.270T>A (p.Ala90=) c.273T>A (p.Ala91=) n.45+9662T>A | |
| 17 | g.59697709_59697710del | CA186105 | PTRH2 | c.269_270del (p.Ala90GlyfsTer13) c.272_273del (p.Ala91GlyfsTer13) n.45+9661_45+9662del | ClinVar dbSNP |
| 17 | g.59697710G>A | CA400429625 | PTRH2 | c.269C>T (p.Ala90Val) c.272C>T (p.Ala91Val) n.45+9661C>T | |
| 17 | g.59697710G>C | CA400429629 | PTRH2 | c.269C>G (p.Ala90Gly) c.272C>G (p.Ala91Gly) n.45+9661C>G | |
| 17 | g.59697710G>T | CA400429632 | PTRH2 | c.269C>A (p.Ala90Asp) c.272C>A (p.Ala91Asp) n.45+9661C>A | |
| 17 | g.59697711C>A | CA400429637 | PTRH2 | c.268G>T (p.Ala90Ser) c.271G>T (p.Ala91Ser) n.45+9660G>T | |
| 17 | g.59697711C>G | CA400429639 | PTRH2 | c.268G>C (p.Ala90Pro) c.271G>C (p.Ala91Pro) n.45+9660G>C | |
| 17 | g.59697711C>T | CA400429643 | PTRH2 | c.268G>A (p.Ala90Thr) c.271G>A (p.Ala91Thr) n.45+9660G>A | gnomAD v4 |
| 17 | g.59697712A>C | CA501331625 | PTRH2 | c.267T>G (p.Ala89=) c.270T>G (p.Ala90=) n.45+9659T>G | gnomAD v4 |
| 17 | g.59697712A>G | CA501331626 | PTRH2 | c.267T>C (p.Ala89=) c.270T>C (p.Ala90=) n.45+9659T>C | |
| 17 | g.59697712A>T | CA501331627 | PTRH2 | c.267T>A (p.Ala89=) c.270T>A (p.Ala90=) n.45+9659T>A | |
| 17 | g.59697713G>A | CA400429645 | PTRH2 | c.266C>T (p.Ala89Val) c.269C>T (p.Ala90Val) n.45+9658C>T | |
| 17 | g.59697713G>C | CA400429648 | PTRH2 | c.266C>G (p.Ala89Gly) c.269C>G (p.Ala90Gly) n.45+9658C>G | |
| 17 | g.59697713G>T | CA400429651 | PTRH2 | c.266C>A (p.Ala89Asp) c.269C>A (p.Ala90Asp) n.45+9658C>A | |
| 17 | g.59697714C>A | CA400429654 | PTRH2 | c.265G>T (p.Ala89Ser) c.268G>T (p.Ala90Ser) n.45+9657G>T | |
| 17 | g.59697714C>G | CA400429657 | PTRH2 | c.265G>C (p.Ala89Pro) c.268G>C (p.Ala90Pro) n.45+9657G>C | |
| 17 | g.59697714C>T | CA400429661 | PTRH2 | c.265G>A (p.Ala89Thr) c.268G>A (p.Ala90Thr) n.45+9657G>A | |
| 17 | g.59697715A>C | CA400429664 | PTRH2 | c.264T>G (p.His88Gln) c.267T>G (p.His89Gln) n.45+9656T>G | |
| 17 | g.59697715A>G | CA501331630 | PTRH2 | c.264T>C (p.His88=) c.267T>C (p.His89=) n.45+9656T>C | gnomAD v4 |
| 17 | g.59697715A>T | CA400429666 | PTRH2 | c.264T>A (p.His88Gln) c.267T>A (p.His89Gln) n.45+9656T>A | |
| 17 | g.59697716T>A | CA400429677 | PTRH2 | c.263A>T (p.His88Leu) c.266A>T (p.His89Leu) n.45+9655A>T | |
| 17 | g.59697716T>C | CA400429671 | PTRH2 | c.263A>G (p.His88Arg) c.266A>G (p.His89Arg) n.45+9655A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697716T>G | CA400429674 | PTRH2 | c.263A>C (p.His88Pro) c.266A>C (p.His89Pro) n.45+9655A>C | |
| 17 | g.59697716T= | CA2268261819 | PTRH2 | c.263A= (p.His88=) c.266A= (p.His89=) n.45+9655A= | |
| 17 | g.59697717G>A | CA292127218 | PTRH2 | c.262C>T (p.His88Tyr) c.265C>T (p.His89Tyr) n.45+9654C>T | dbSNP |
| 17 | g.59697717G>C | CA400429686 | PTRH2 | c.262C>G (p.His88Asp) c.265C>G (p.His89Asp) n.45+9654C>G | |
| 17 | g.59697717G= | CA2268261821 | PTRH2 | c.262C= (p.His88=) c.265C= (p.His89=) n.45+9654C= | |
| 17 | g.59697717G>T | CA400429687 | PTRH2 | c.262C>A (p.His88Asn) c.265C>A (p.His89Asn) n.45+9654C>A | |
| 17 | g.59697718A>C | CA501331635 | PTRH2 | c.261T>G (p.Ser87=) c.264T>G (p.Ser88=) n.45+9653T>G | |
| 17 | g.59697718A>G | CA501331636 | PTRH2 | c.261T>C (p.Ser87=) c.264T>C (p.Ser88=) n.45+9653T>C | |
| 17 | g.59697718A>T | CA501331637 | PTRH2 | c.261T>A (p.Ser87=) c.264T>A (p.Ser88=) n.45+9653T>A | |
| 17 | g.59697719G>A | CA400429692 | PTRH2 | c.260C>T (p.Ser87Phe) c.263C>T (p.Ser88Phe) n.45+9652C>T | |
| 17 | g.59697719G>C | CA400429697 | PTRH2 | c.260C>G (p.Ser87Cys) c.263C>G (p.Ser88Cys) n.45+9652C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697719G= | CA2268261826 | PTRH2 | c.260C= (p.Ser87=) c.263C= (p.Ser88=) n.45+9652C= | |
| 17 | g.59697719G>T | CA8681922 | PTRH2 | c.260C>A (p.Ser87Tyr) c.263C>A (p.Ser88Tyr) n.45+9652C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697720_59697726del | CA2695226706 | PTRH2 | c.254_260del (p.Gln85LeufsTer?) c.257_263del (p.Gln86LeufsTer?) n.45+9646_45+9652del | |
| 17 | g.59697720A= | CA2268261830 | PTRH2 | c.259T= (p.Ser87=) c.262T= (p.Ser88=) n.45+9651T= | |
| 17 | g.59697720A>C | CA400429706 | PTRH2 | c.259T>G (p.Ser87Ala) c.262T>G (p.Ser88Ala) n.45+9651T>G | |
| 17 | g.59697720A>G | CA400429703 | PTRH2 | c.259T>C (p.Ser87Pro) c.262T>C (p.Ser88Pro) n.45+9651T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.59697720A>T | CA400429704 | PTRH2 | c.259T>A (p.Ser87Thr) c.262T>A (p.Ser88Thr) n.45+9651T>A | |
| 17 | g.59697721G>A | CA501331638 | PTRH2 | c.258C>T (p.Cys86=) c.261C>T (p.Cys87=) n.45+9650C>T | |
| 17 | g.59697721G>C | CA400429709 | PTRH2 | c.258C>G (p.Cys86Trp) c.261C>G (p.Cys87Trp) n.45+9650C>G | |
| 17 | g.59697721G>T | CA400429713 | PTRH2 | c.258C>A (p.Cys86Ter) c.261C>A (p.Cys87Ter) n.45+9650C>A | |
| 17 | g.59697722C>A | CA400429718 | PTRH2 | c.257G>T (p.Cys86Phe) c.260G>T (p.Cys87Phe) n.45+9649G>T | |
| 17 | g.59697722C>G | CA400429721 | PTRH2 | c.257G>C (p.Cys86Ser) c.260G>C (p.Cys87Ser) n.45+9649G>C | |
| 17 | g.59697722C>T | CA400429723 | PTRH2 | c.257G>A (p.Cys86Tyr) c.260G>A (p.Cys87Tyr) n.45+9649G>A | |
| 17 | g.59697723A>C | CA400429725 | PTRH2 | c.256T>G (p.Cys86Gly) c.259T>G (p.Cys87Gly) n.45+9648T>G | |
| 17 | g.59697723A>G | CA400429730 | PTRH2 | c.256T>C (p.Cys86Arg) c.259T>C (p.Cys87Arg) n.45+9648T>C | |
| 17 | g.59697723A>T | CA400429728 | PTRH2 | c.256T>A (p.Cys86Ser) c.259T>A (p.Cys87Ser) n.45+9648T>A | |
| 17 | g.59697724C>A | CA400429733 | PTRH2 | c.255G>T (p.Gln85His) c.258G>T (p.Gln86His) n.45+9647G>T | |
| 17 | g.59697724C>G | CA400429735 | PTRH2 | c.255G>C (p.Gln85His) c.258G>C (p.Gln86His) n.45+9647G>C | |
| 17 | g.59697724C>T | CA501331643 | PTRH2 | c.255G>A (p.Gln85=) c.258G>A (p.Gln86=) n.45+9647G>A | |
| 17 | g.59697725T>A | CA400429737 | PTRH2 | c.254A>T (p.Gln85Leu) c.257A>T (p.Gln86Leu) n.45+9646A>T | |
| 17 | g.59697725T>C | CA400429739 | PTRH2 | c.254A>G (p.Gln85Arg) c.257A>G (p.Gln86Arg) n.45+9646A>G | |
| 17 | g.59697725T>G | CA186106 | PTRH2 | c.254A>C (p.Gln85Pro) c.257A>C (p.Gln86Pro) n.45+9646A>C | ClinVar dbSNP |
| 17 | g.59697725T= | CA2268261841 | PTRH2 | c.254A= (p.Gln85=) c.257A= (p.Gln86=) n.45+9646A= | |
| 17 | g.59697726G>A | CA8681923 | PTRH2 | c.253C>T (p.Gln85Ter) c.256C>T (p.Gln86Ter) n.45+9645C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.59697726G>C | CA400429746 | PTRH2 | c.253C>G (p.Gln85Glu) c.256C>G (p.Gln86Glu) n.45+9645C>G | |
| 17 | g.59697726G= | CA2268261849 | PTRH2 | c.253C= (p.Gln85=) c.256C= (p.Gln86=) n.45+9645C= | |
| 17 | g.59697726G>T | CA400429747 | PTRH2 | c.253C>A (p.Gln85Lys) c.256C>A (p.Gln86Lys) n.45+9645C>A | |
| 17 | g.59697728dup | CA2268261848 | PTRH2 | c.253dup (p.Gln85ProfsTer19) c.256dup (p.Gln86ProfsTer19) n.45+9645dup | dbSNP |
| 17 | g.59697727G>A | CA501331648 | PTRH2 | c.252C>T (p.Ala84=) c.255C>T (p.Ala85=) n.45+9644C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.59697727G>C | CA501331647 | PTRH2 | c.252C>G (p.Ala84=) c.255C>G (p.Ala85=) n.45+9644C>G | |
| 17 | g.59697727G= | CA2268261856 | PTRH2 | c.252C= (p.Ala84=) c.255C= (p.Ala85=) n.45+9644C= | |
| 17 | g.59697727G>T | CA501331646 | PTRH2 | c.252C>A (p.Ala84=) c.255C>A (p.Ala85=) n.45+9644C>A | |
| 17 | g.59697728G>A | CA8681924 | PTRH2 | c.251C>T (p.Ala84Val) c.254C>T (p.Ala85Val) n.45+9643C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.59697728G>C | CA400429751 | PTRH2 | c.251C>G (p.Ala84Gly) c.254C>G (p.Ala85Gly) n.45+9643C>G | dbSNP gnomAD v2 |
| 17 | g.59697728G= | CA2268261859 | PTRH2 | c.251C= (p.Ala84=) c.254C= (p.Ala85=) n.45+9643C= | |
| 17 | g.59697728G>T | CA400429753 | PTRH2 | c.251C>A (p.Ala84Asp) c.254C>A (p.Ala85Asp) n.45+9643C>A | |
| 17 | g.59697729C>A | CA400429755 | PTRH2 | c.250G>T (p.Ala84Ser) c.253G>T (p.Ala85Ser) n.45+9642G>T | |
| 17 | g.59697729C= | CA2268261863 | PTRH2 | c.250G= (p.Ala84=) c.253G= (p.Ala85=) n.45+9642G= | |
| 17 | g.59697729C>G | CA400429759 | PTRH2 | c.250G>C (p.Ala84Pro) c.253G>C (p.Ala85Pro) n.45+9642G>C | |
| 17 | g.59697729C>T | CA400429757 | PTRH2 | c.250G>A (p.Ala84Thr) c.253G>A (p.Ala85Thr) n.45+9642G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.59697730A>C | CA501331650 | PTRH2 | c.249T>G (p.Ala83=) c.252T>G (p.Ala84=) n.45+9641T>G | |
| 17 | g.59697730A>G | CA501331653 | PTRH2 | c.249T>C (p.Ala83=) c.252T>C (p.Ala84=) n.45+9641T>C | |
| 17 | g.59697730A>T | CA501331651 | PTRH2 | c.249T>A (p.Ala83=) c.252T>A (p.Ala84=) n.45+9641T>A | |
| 17 | g.59697731G>A | CA8681925 | PTRH2 | c.248C>T (p.Ala83Val) c.251C>T (p.Ala84Val) n.45+9640C>T | dbSNP ExAC |
| 17 | g.59697731G>C | CA400429766 | PTRH2 | c.248C>G (p.Ala83Gly) c.251C>G (p.Ala84Gly) n.45+9640C>G | |
| 17 | g.59697731G= | CA2268261865 | PTRH2 | c.248C= (p.Ala83=) c.251C= (p.Ala84=) n.45+9640C= | |
| 17 | g.59697731G>T | CA400429764 | PTRH2 | c.248C>A (p.Ala83Asp) c.251C>A (p.Ala84Asp) n.45+9640C>A | |
| 17 | g.59697732C>A | CA400429769 | PTRH2 | c.247G>T (p.Ala83Ser) c.250G>T (p.Ala84Ser) n.45+9639G>T | |
| 17 | g.59697732C= | CA2268261869 | PTRH2 | c.247G= (p.Ala83=) c.250G= (p.Ala84=) n.45+9639G= | |
| 17 | g.59697732C>G | CA400429772 | PTRH2 | c.247G>C (p.Ala83Pro) c.250G>C (p.Ala84Pro) n.45+9639G>C | |
| 17 | g.59697732C>T | CA292127278 | PTRH2 | c.247G>A (p.Ala83Thr) c.250G>A (p.Ala84Thr) n.45+9639G>A | dbSNP gnomAD v3 gnomAD v4 |