Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177992912_177992914dup | CA3587515 | PROP1 | c.487_489dup (p.Pro163_Val164insPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992912_177992914del | CA3587514 | PROP1 | c.487_489del (p.Pro163del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177992909_177992914del | CA808117610 | PROP1 | c.484_489del (p.Pro162_Pro163del) | dbSNP |
5 | g.177992911G>A | CA362378639 | PROP1 | c.479C>T (p.Pro160Leu) | dbSNP |
5 | g.177992911G>C | CA362378640 | PROP1 | c.479C>G (p.Pro160Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992911G= | CA1603814036 | PROP1 | c.479C= (p.Pro160=) | |
5 | g.177992911G>T | CA362378641 | PROP1 | c.479C>A (p.Pro160Gln) | |
5 | g.177992912G>A | CA362378642 | PROP1 | c.478C>T (p.Pro160Ser) | |
5 | g.177992912G>C | CA362378643 | PROP1 | c.478C>G (p.Pro160Ala) | dbSNP gnomAD v4 |
5 | g.177992912G= | CA1603814037 | PROP1 | c.478C= (p.Pro160=) | |
5 | g.177992912G>T | CA362378644 | PROP1 | c.478C>A (p.Pro160Thr) | |
5 | g.177992913T>A | CA448355010 | PROP1 | c.477A>T (p.Ala159=) | |
5 | g.177992913T>C | CA448355012 | PROP1 | c.477A>G (p.Ala159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992913T>G | CA448355014 | PROP1 | c.477A>C (p.Ala159=) | |
5 | g.177992913T= | CA1603814038 | PROP1 | c.477A= (p.Ala159=) | |
5 | g.177992916_177992918dup | CA132897255 | PROP1 | c.475_477dup (p.Ala159_Pro160insAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992914G>A | CA132897258 | PROP1 | c.476C>T (p.Ala159Val) | dbSNP |
5 | g.177992914G>C | CA362378646 | PROP1 | c.476C>G (p.Ala159Gly) | |
5 | g.177992914G= | CA1603814039 | PROP1 | c.476C= (p.Ala159=) | |
5 | g.177992914G>T | CA362378645 | PROP1 | c.476C>A (p.Ala159Glu) | |
5 | g.177992915C>A | CA362378647 | PROP1 | c.475G>T (p.Ala159Ser) | |
5 | g.177992915C>G | CA362378649 | PROP1 | c.475G>C (p.Ala159Pro) | |
5 | g.177992915C>T | CA362378648 | PROP1 | c.475G>A (p.Ala159Thr) | |
5 | g.177992916T>A | CA448355026 | PROP1 | c.474A>T (p.Ala158=) | ClinVar |
5 | g.177992916T>C | CA448355025 | PROP1 | c.474A>G (p.Ala158=) | |
5 | g.177992916T>G | CA448355023 | PROP1 | c.474A>C (p.Ala158=) | |
5 | g.177992917G>A | CA362378650 | PROP1 | c.473C>T (p.Ala158Val) | |
5 | g.177992917G>C | CA362378652 | PROP1 | c.473C>G (p.Ala158Gly) | |
5 | g.177992917G= | CA1603814040 | PROP1 | c.473C= (p.Ala158=) | |
5 | g.177992917G>T | CA362378651 | PROP1 | c.473C>A (p.Ala158Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992918C>A | CA362378653 | PROP1 | c.472G>T (p.Ala158Ser) | |
5 | g.177992918C= | CA1603814041 | PROP1 | c.472G= (p.Ala158=) | |
5 | g.177992918C>G | CA362378654 | PROP1 | c.472G>C (p.Ala158Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177992918C>T | CA3587518 | PROP1 | c.472G>A (p.Ala158Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992919G>A | CA3587519 | PROP1 | c.471C>T (p.Tyr157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.177992919G>C | CA3587520 | PROP1 | c.471C>G (p.Tyr157Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177992919G= | CA1603814042 | PROP1 | c.471C= (p.Tyr157=) | |
5 | g.177992919G>T | CA362378655 | PROP1 | c.471C>A (p.Tyr157Ter) | |
5 | g.177992920T>A | CA362378656 | PROP1 | c.470A>T (p.Tyr157Phe) | |
5 | g.177992920T>C | CA362378657 | PROP1 | c.470A>G (p.Tyr157Cys) | gnomAD v4 |
5 | g.177992920T>G | CA362378658 | PROP1 | c.470A>C (p.Tyr157Ser) | |
5 | g.177992920_177992921delinsTA | CA1603814043 | PROP1 | c.469_470delinsTA (p.Tyr157=) | |
5 | g.177992921A>C | CA362378661 | PROP1 | c.469T>G (p.Tyr157Asp) | |
5 | g.177992921A>G | CA362378660 | PROP1 | c.469T>C (p.Tyr157His) | |
5 | g.177992921A>T | CA362378659 | PROP1 | c.469T>A (p.Tyr157Asn) | |
5 | g.177992922del | CA1084892861 | PROP1 | c.469del (p.Tyr157ThrfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992923_177992925del | CA2676775100 | PROP1 | c.467_469del (p.Ser156del) | gnomAD v4 |
5 | g.177992922A>C | CA448355047 | PROP1 | c.468T>G (p.Ser156=) | |
5 | g.177992922A>G | CA448355049 | PROP1 | c.468T>C (p.Ser156=) | |
5 | g.177992922A>T | CA448355050 | PROP1 | c.468T>A (p.Ser156=) |