| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13288428C>A | CA376035385 | PHYH | c.610G>T (p.Gly204Cys) c.310G>T (p.Gly104Cys) c.559G>T (p.Gly187Cys) c.616G>T (p.Gly206Cys) c.460-4589G>T (n.460-4589G>T) c.415-4589G>T (n.415-4589G>T) c.316G>T (p.Gly106Cys) | |
| 10 | g.13288428C= | CA1891548429 | PHYH | c.610G= (p.Gly204=) c.310G= (p.Gly104=) c.559G= (p.Gly187=) c.616G= (p.Gly206=) c.460-4589G= (n.460-4589G=) c.415-4589G= (n.415-4589G=) c.316G= (p.Gly106=) | |
| 10 | g.13288428C>G | CA376035382 | PHYH | c.610G>C (p.Gly204Arg) c.310G>C (p.Gly104Arg) c.559G>C (p.Gly187Arg) c.616G>C (p.Gly206Arg) c.460-4589G>C (n.460-4589G>C) c.415-4589G>C (n.415-4589G>C) c.316G>C (p.Gly106Arg) | |
| 10 | g.13288428C>T | CA118907 | PHYH | c.610G>A (p.Gly204Ser) c.310G>A (p.Gly104Ser) c.559G>A (p.Gly187Ser) c.616G>A (p.Gly206Ser) c.460-4589G>A (n.460-4589G>A) c.415-4589G>A (n.415-4589G>A) c.316G>A (p.Gly106Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13288428_13288431delinsCGTT | CA1891548430 | PHYH | c.607_610delinsAACG (p.Asn203=) c.307_310delinsAACG (p.Asn103=) c.556_559delinsAACG (p.Asn186=) c.613_616delinsAACG (p.Asn205=) c.460-4592_460-4589delinsAACG (n.460-4592_460-4589delinsAACG) c.415-4592_415-4589delinsAACG (n.415-4592_415-4589delinsAACG) c.313_316delinsAACG (p.Asn105=) | |
| 10 | g.13288429G>A | CA5412300 | PHYH | c.609C>T (p.Asn203=) c.309C>T (p.Asn103=) c.558C>T (p.Asn186=) c.615C>T (p.Asn205=) c.460-4590C>T (n.460-4590C>T) c.415-4590C>T (n.415-4590C>T) c.315C>T (p.Asn105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13288429G>C | CA5412301 | PHYH | c.609C>G (p.Asn203Lys) c.309C>G (p.Asn103Lys) c.558C>G (p.Asn186Lys) c.615C>G (p.Asn205Lys) c.460-4590C>G (n.460-4590C>G) c.415-4590C>G (n.415-4590C>G) c.315C>G (p.Asn105Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13288429G= | CA1891548431 | PHYH | c.609C= (p.Asn203=) c.309C= (p.Asn103=) c.558C= (p.Asn186=) c.615C= (p.Asn205=) c.460-4590C= (n.460-4590C=) c.415-4590C= (n.415-4590C=) c.315C= (p.Asn105=) | |
| 10 | g.13288429G>T | CA376035388 | PHYH | c.609C>A (p.Asn203Lys) c.309C>A (p.Asn103Lys) c.558C>A (p.Asn186Lys) c.615C>A (p.Asn205Lys) c.460-4590C>A (n.460-4590C>A) c.415-4590C>A (n.415-4590C>A) c.315C>A (p.Asn105Lys) | |
| 10 | g.13288432_13288434del | CA592312015 | PHYH | c.607_609del (p.Asn203del) c.307_309del (p.Asn103del) c.556_558del (p.Asn186del) c.613_615del (p.Asn205del) c.460-4592_460-4590del (n.460-4592_460-4590del) c.415-4592_415-4590del (n.415-4592_415-4590del) c.313_315del (p.Asn105del) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13288430T>A | CA376035391 | PHYH | c.608A>T (p.Asn203Ile) c.308A>T (p.Asn103Ile) c.557A>T (p.Asn186Ile) c.614A>T (p.Asn205Ile) c.460-4591A>T (n.460-4591A>T) c.415-4591A>T (n.415-4591A>T) c.314A>T (p.Asn105Ile) | |
| 10 | g.13288430T>C | CA376035393 | PHYH | c.608A>G (p.Asn203Ser) c.308A>G (p.Asn103Ser) c.557A>G (p.Asn186Ser) c.614A>G (p.Asn205Ser) c.460-4591A>G (n.460-4591A>G) c.415-4591A>G (n.415-4591A>G) c.314A>G (p.Asn105Ser) | |
| 10 | g.13288430T>G | CA376035395 | PHYH | c.608A>C (p.Asn203Thr) c.308A>C (p.Asn103Thr) c.557A>C (p.Asn186Thr) c.614A>C (p.Asn205Thr) c.460-4591A>C (n.460-4591A>C) c.415-4591A>C (n.415-4591A>C) c.314A>C (p.Asn105Thr) | |
| 10 | g.13288431T>A | CA376035397 | PHYH | c.607A>T (p.Asn203Tyr) c.307A>T (p.Asn103Tyr) c.556A>T (p.Asn186Tyr) c.613A>T (p.Asn205Tyr) c.460-4592A>T (n.460-4592A>T) c.415-4592A>T (n.415-4592A>T) c.313A>T (p.Asn105Tyr) | |
| 10 | g.13288431T>C | CA376035399 | PHYH | c.607A>G (p.Asn203Asp) c.307A>G (p.Asn103Asp) c.556A>G (p.Asn186Asp) c.613A>G (p.Asn205Asp) c.460-4592A>G (n.460-4592A>G) c.415-4592A>G (n.415-4592A>G) c.313A>G (p.Asn105Asp) | |
| 10 | g.13288431T>G | CA376035401 | PHYH | c.607A>C (p.Asn203His) c.307A>C (p.Asn103His) c.556A>C (p.Asn186His) c.613A>C (p.Asn205His) c.460-4592A>C (n.460-4592A>C) c.415-4592A>C (n.415-4592A>C) c.313A>C (p.Asn105His) | |
| 10 | g.13288432G>A | CA468239681 | PHYH | c.606C>T (p.Asn202=) c.306C>T (p.Asn102=) c.555C>T (p.Asn185=) c.612C>T (p.Asn204=) c.460-4593C>T (n.460-4593C>T) c.415-4593C>T (n.415-4593C>T) c.312C>T (p.Asn104=) | |
| 10 | g.13288432G>C | CA376035402 | PHYH | c.606C>G (p.Asn202Lys) c.306C>G (p.Asn102Lys) c.555C>G (p.Asn185Lys) c.612C>G (p.Asn204Lys) c.460-4593C>G (n.460-4593C>G) c.415-4593C>G (n.415-4593C>G) c.312C>G (p.Asn104Lys) | |
| 10 | g.13288432G= | CA1891548432 | PHYH | c.606C= (p.Asn202=) c.306C= (p.Asn102=) c.555C= (p.Asn185=) c.612C= (p.Asn204=) c.460-4593C= (n.460-4593C=) c.415-4593C= (n.415-4593C=) c.312C= (p.Asn104=) | |
| 10 | g.13288432G>T | CA5412302 | PHYH | c.606C>A (p.Asn202Lys) c.306C>A (p.Asn102Lys) c.555C>A (p.Asn185Lys) c.612C>A (p.Asn204Lys) c.460-4593C>A (n.460-4593C>A) c.415-4593C>A (n.415-4593C>A) c.312C>A (p.Asn104Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13288433T>A | CA376035406 | PHYH | c.605A>T (p.Asn202Ile) c.305A>T (p.Asn102Ile) c.554A>T (p.Asn185Ile) c.611A>T (p.Asn204Ile) c.460-4594A>T (n.460-4594A>T) c.415-4594A>T (n.415-4594A>T) c.311A>T (p.Asn104Ile) | |
| 10 | g.13288433T>C | CA376035407 | PHYH | c.605A>G (p.Asn202Ser) c.305A>G (p.Asn102Ser) c.554A>G (p.Asn185Ser) c.611A>G (p.Asn204Ser) c.460-4594A>G (n.460-4594A>G) c.415-4594A>G (n.415-4594A>G) c.311A>G (p.Asn104Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13288433T>G | CA376035408 | PHYH | c.605A>C (p.Asn202Thr) c.305A>C (p.Asn102Thr) c.554A>C (p.Asn185Thr) c.611A>C (p.Asn204Thr) c.460-4594A>C (n.460-4594A>C) c.415-4594A>C (n.415-4594A>C) c.311A>C (p.Asn104Thr) | |
| 10 | g.13288433T= | CA1891548433 | PHYH | c.605A= (p.Asn202=) c.305A= (p.Asn102=) c.554A= (p.Asn185=) c.611A= (p.Asn204=) c.460-4594A= (n.460-4594A=) c.415-4594A= (n.415-4594A=) c.311A= (p.Asn104=) | |
| 10 | g.13288434T>A | CA376035415 | PHYH | c.604A>T (p.Asn202Tyr) c.304A>T (p.Asn102Tyr) c.553A>T (p.Asn185Tyr) c.610A>T (p.Asn204Tyr) c.460-4595A>T (n.460-4595A>T) c.415-4595A>T (n.415-4595A>T) c.310A>T (p.Asn104Tyr) | |
| 10 | g.13288434T>C | CA376035413 | PHYH | c.604A>G (p.Asn202Asp) c.304A>G (p.Asn102Asp) c.553A>G (p.Asn185Asp) c.610A>G (p.Asn204Asp) c.460-4595A>G (n.460-4595A>G) c.415-4595A>G (n.415-4595A>G) c.310A>G (p.Asn104Asp) | |
| 10 | g.13288434T>G | CA376035411 | PHYH | c.604A>C (p.Asn202His) c.304A>C (p.Asn102His) c.553A>C (p.Asn185His) c.610A>C (p.Asn204His) c.460-4595A>C (n.460-4595A>C) c.415-4595A>C (n.415-4595A>C) c.310A>C (p.Asn104His) | |
| 10 | g.13288435C>A | CA468239690 | PHYH | c.603G>T (p.Arg201=) c.303G>T (p.Arg101=) c.552G>T (p.Arg184=) c.609G>T (p.Arg203=) c.460-4596G>T (n.460-4596G>T) c.415-4596G>T (n.415-4596G>T) c.309G>T (p.Arg103=) | |
| 10 | g.13288435C= | CA1891548434 | PHYH | c.603G= (p.Arg201=) c.303G= (p.Arg101=) c.552G= (p.Arg184=) c.609G= (p.Arg203=) c.460-4596G= (n.460-4596G=) c.415-4596G= (n.415-4596G=) c.309G= (p.Arg103=) | |
| 10 | g.13288435C>G | CA468239692 | PHYH | c.603G>C (p.Arg201=) c.303G>C (p.Arg101=) c.552G>C (p.Arg184=) c.609G>C (p.Arg203=) c.460-4596G>C (n.460-4596G>C) c.415-4596G>C (n.415-4596G>C) c.309G>C (p.Arg103=) | gnomAD v4 |
| 10 | g.13288435C>T | CA468239694 | PHYH | c.603G>A (p.Arg201=) c.303G>A (p.Arg101=) c.552G>A (p.Arg184=) c.609G>A (p.Arg203=) c.460-4596G>A (n.460-4596G>A) c.415-4596G>A (n.415-4596G>A) c.309G>A (p.Arg103=) | dbSNP |
| 10 | g.13288436C>A | CA376035417 | PHYH | c.602G>T (p.Arg201Leu) c.302G>T (p.Arg101Leu) c.551G>T (p.Arg184Leu) c.608G>T (p.Arg203Leu) c.460-4597G>T (n.460-4597G>T) c.415-4597G>T (n.415-4597G>T) c.308G>T (p.Arg103Leu) | dbSNP gnomAD v2 |
| 10 | g.13288436C= | CA1891548435 | PHYH | c.602G= (p.Arg201=) c.302G= (p.Arg101=) c.551G= (p.Arg184=) c.608G= (p.Arg203=) c.460-4597G= (n.460-4597G=) c.415-4597G= (n.415-4597G=) c.308G= (p.Arg103=) | |
| 10 | g.13288436C>G | CA376035419 | PHYH | c.602G>C (p.Arg201Pro) c.302G>C (p.Arg101Pro) c.551G>C (p.Arg184Pro) c.608G>C (p.Arg203Pro) c.460-4597G>C (n.460-4597G>C) c.415-4597G>C (n.415-4597G>C) c.308G>C (p.Arg103Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13288436C>T | CA376035421 | PHYH | c.602G>A (p.Arg201Gln) c.302G>A (p.Arg101Gln) c.551G>A (p.Arg184Gln) c.608G>A (p.Arg203Gln) c.460-4597G>A (n.460-4597G>A) c.415-4597G>A (n.415-4597G>A) c.308G>A (p.Arg103Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13288437G>A | CA5412304 | PHYH | c.601C>T (p.Arg201Trp) c.301C>T (p.Arg101Trp) c.550C>T (p.Arg184Trp) c.607C>T (p.Arg203Trp) c.460-4598C>T (n.460-4598C>T) c.415-4598C>T (n.415-4598C>T) c.307C>T (p.Arg103Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13288437G>C | CA5412303 | PHYH | c.601C>G (p.Arg201Gly) c.301C>G (p.Arg101Gly) c.550C>G (p.Arg184Gly) c.607C>G (p.Arg203Gly) c.460-4598C>G (n.460-4598C>G) c.415-4598C>G (n.415-4598C>G) c.307C>G (p.Arg103Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13288437G= | CA1891548436 | PHYH | c.601C= (p.Arg201=) c.301C= (p.Arg101=) c.550C= (p.Arg184=) c.607C= (p.Arg203=) c.460-4598C= (n.460-4598C=) c.415-4598C= (n.415-4598C=) c.307C= (p.Arg103=) | |
| 10 | g.13288437G>T | CA468239702 | PHYH | c.601C>A (p.Arg201=) c.301C>A (p.Arg101=) c.550C>A (p.Arg184=) c.607C>A (p.Arg203=) c.460-4598C>A (n.460-4598C>A) c.415-4598C>A (n.415-4598C>A) c.307C>A (p.Arg103=) | dbSNP |
| 10 | g.13288438G>A | CA468239710 | PHYH | c.600C>T (p.Ser200=) c.300C>T (p.Ser100=) c.549C>T (p.Ser183=) c.606C>T (p.Ser202=) c.460-4599C>T (n.460-4599C>T) c.415-4599C>T (n.415-4599C>T) c.306C>T (p.Ser102=) | |
| 10 | g.13288438G>C | CA376035424 | PHYH | c.600C>G (p.Ser200Arg) c.300C>G (p.Ser100Arg) c.549C>G (p.Ser183Arg) c.606C>G (p.Ser202Arg) c.460-4599C>G (n.460-4599C>G) c.415-4599C>G (n.415-4599C>G) c.306C>G (p.Ser102Arg) | |
| 10 | g.13288438G>T | CA376035426 | PHYH | c.600C>A (p.Ser200Arg) c.300C>A (p.Ser100Arg) c.549C>A (p.Ser183Arg) c.606C>A (p.Ser202Arg) c.460-4599C>A (n.460-4599C>A) c.415-4599C>A (n.415-4599C>A) c.306C>A (p.Ser102Arg) | COSMIC |
| 10 | g.13288439C>A | CA376035428 | PHYH | c.599G>T (p.Ser200Ile) c.299G>T (p.Ser100Ile) c.548G>T (p.Ser183Ile) c.605G>T (p.Ser202Ile) c.460-4600G>T (n.460-4600G>T) c.415-4600G>T (n.415-4600G>T) c.305G>T (p.Ser102Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13288439C= | CA1891548437 | PHYH | c.599G= (p.Ser200=) c.299G= (p.Ser100=) c.548G= (p.Ser183=) c.605G= (p.Ser202=) c.460-4600G= (n.460-4600G=) c.415-4600G= (n.415-4600G=) c.305G= (p.Ser102=) | |
| 10 | g.13288439C>G | CA376035430 | PHYH | c.599G>C (p.Ser200Thr) c.299G>C (p.Ser100Thr) c.548G>C (p.Ser183Thr) c.605G>C (p.Ser202Thr) c.460-4600G>C (n.460-4600G>C) c.415-4600G>C (n.415-4600G>C) c.305G>C (p.Ser102Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13288439C>T | CA5412305 | PHYH | c.599G>A (p.Ser200Asn) c.299G>A (p.Ser100Asn) c.548G>A (p.Ser183Asn) c.605G>A (p.Ser202Asn) c.460-4600G>A (n.460-4600G>A) c.415-4600G>A (n.415-4600G>A) c.305G>A (p.Ser102Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13288440T>A | CA376035433 | PHYH | c.598A>T (p.Ser200Cys) c.298A>T (p.Ser100Cys) c.547A>T (p.Ser183Cys) c.604A>T (p.Ser202Cys) c.460-4601A>T (n.460-4601A>T) c.415-4601A>T (n.415-4601A>T) c.304A>T (p.Ser102Cys) | |
| 10 | g.13288440T>C | CA376035435 | PHYH | c.598A>G (p.Ser200Gly) c.298A>G (p.Ser100Gly) c.547A>G (p.Ser183Gly) c.604A>G (p.Ser202Gly) c.460-4601A>G (n.460-4601A>G) c.415-4601A>G (n.415-4601A>G) c.304A>G (p.Ser102Gly) | |
| 10 | g.13288440T>G | CA376035437 | PHYH | c.598A>C (p.Ser200Arg) c.298A>C (p.Ser100Arg) c.547A>C (p.Ser183Arg) c.604A>C (p.Ser202Arg) c.460-4601A>C (n.460-4601A>C) c.415-4601A>C (n.415-4601A>C) c.304A>C (p.Ser102Arg) | |
| 10 | g.13288441G>A | CA468239718 | PHYH | c.597C>T (p.Ile199=) c.297C>T (p.Ile99=) c.546C>T (p.Ile182=) c.603C>T (p.Ile201=) c.460-4602C>T (n.460-4602C>T) c.415-4602C>T (n.415-4602C>T) c.303C>T (p.Ile101=) | ClinVar dbSNP |