Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3595675C>A | CA403329459 | TBXA2R | c.*13G>T (n.*13G>T) c.983+62G>T (n.983+62G>T) c.656G>T (p.Ser219Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595675C= | CA2318945774 | TBXA2R | c.*13G= (n.*13G=) c.983+62G= (n.983+62G=) c.656G= (p.Ser219=) | |
19 | g.3595675C>G | CA403329462 | TBXA2R | c.*13G>C (n.*13G>C) c.983+62G>C (n.983+62G>C) c.656G>C (p.Ser219Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595675C>T | CA403329464 | TBXA2R | c.*13G>A (n.*13G>A) c.983+62G>A (n.983+62G>A) c.656G>A (p.Ser219Asn) | gnomAD v4 |
19 | g.3595676T>A | CA403329477 | TBXA2R | c.*12A>T (n.*12A>T) c.983+61A>T (n.983+61A>T) c.655A>T (p.Ser219Cys) | |
19 | g.3595676T>C | CA403329480 | TBXA2R | c.*12A>G (n.*12A>G) c.983+61A>G (n.983+61A>G) c.655A>G (p.Ser219Gly) | |
19 | g.3595676T>G | CA403329483 | TBXA2R | c.*12A>C (n.*12A>C) c.983+61A>C (n.983+61A>C) c.655A>C (p.Ser219Arg) | gnomAD v4 |
19 | g.3595677C>A | CA403329485 | TBXA2R | c.*11G>T (n.*11G>T) c.983+60G>T (n.983+60G>T) c.654G>T (p.Gln218His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595677C= | CA2318945775 | TBXA2R | c.*11G= (n.*11G=) c.983+60G= (n.983+60G=) c.654G= (p.Gln218=) | |
19 | g.3595677C>G | CA9080705 | TBXA2R | c.*11G>C (n.*11G>C) c.983+60G>C (n.983+60G>C) c.654G>C (p.Gln218His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595677C>T | CA2584493812 | TBXA2R | c.*11G>A (n.*11G>A) c.983+60G>A (n.983+60G>A) c.654G>A (p.Gln218=) | gnomAD v4 |
19 | g.3595678T>A | CA403329493 | TBXA2R | c.*10A>T (n.*10A>T) c.983+59A>T (n.983+59A>T) c.653A>T (p.Gln218Leu) | |
19 | g.3595678T>C | CA403329496 | TBXA2R | c.*10A>G (n.*10A>G) c.983+59A>G (n.983+59A>G) c.653A>G (p.Gln218Arg) | gnomAD v4 |
19 | g.3595678T>G | CA403329491 | TBXA2R | c.*10A>C (n.*10A>C) c.983+59A>C (n.983+59A>C) c.653A>C (p.Gln218Pro) | |
19 | g.3595679del | CA2584493813 | TBXA2R | c.*9del (n.*9del) c.983+58del (n.983+58del) c.652del (p.Gln218ArgfsTer?) | gnomAD v4 |
19 | g.3595679G>A | CA403329508 | TBXA2R | c.*9C>T (n.*9C>T) c.983+58C>T (n.983+58C>T) c.652C>T (p.Gln218Ter) | gnomAD v4 |
19 | g.3595679G>C | CA403329500 | TBXA2R | c.*9C>G (n.*9C>G) c.983+58C>G (n.983+58C>G) c.652C>G (p.Gln218Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595679G= | CA2318945776 | TBXA2R | c.*9C= (n.*9C=) c.983+58C= (n.983+58C=) c.652C= (p.Gln218=) | |
19 | g.3595679G>T | CA403329503 | TBXA2R | c.*9C>A (n.*9C>A) c.983+58C>A (n.983+58C>A) c.652C>A (p.Gln218Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595680T>C | CA631712350 | TBXA2R | c.*8A>G (n.*8A>G) c.983+57A>G (n.983+57A>G) c.651A>G (p.Gly217=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595680T= | CA2318945777 | TBXA2R | c.*8A= (n.*8A=) c.983+57A= (n.983+57A=) c.651A= (p.Gly217=) | |
19 | g.3595681C>A | CA403329510 | TBXA2R | c.*7G>T (n.*7G>T) c.983+56G>T (n.983+56G>T) c.650G>T (p.Gly217Val) | gnomAD v4 |
19 | g.3595681C>G | CA403329514 | TBXA2R | c.*7G>C (n.*7G>C) c.983+56G>C (n.983+56G>C) c.650G>C (p.Gly217Ala) | |
19 | g.3595681C>T | CA403329516 | TBXA2R | c.*7G>A (n.*7G>A) c.983+56G>A (n.983+56G>A) c.650G>A (p.Gly217Glu) | gnomAD v4 |
19 | g.3595682del | CA2584493814 | TBXA2R | c.*7del (n.*7del) c.983+56del (n.983+56del) c.650del (p.Gly217AspfsTer?) | gnomAD v4 |
19 | g.3595682C>A | CA403329520 | TBXA2R | c.*6G>T (n.*6G>T) c.983+55G>T (n.983+55G>T) c.649G>T (p.Gly217Ter) | gnomAD v4 |
19 | g.3595682C= | CA2318945778 | TBXA2R | c.*6G= (n.*6G=) c.983+55G= (n.983+55G=) c.649G= (p.Gly217=) | |
19 | g.3595682C>G | CA403329527 | TBXA2R | c.*6G>C (n.*6G>C) c.983+55G>C (n.983+55G>C) c.649G>C (p.Gly217Arg) | |
19 | g.3595682C>T | CA304367871 | TBXA2R | c.*6G>A (n.*6G>A) c.983+55G>A (n.983+55G>A) c.649G>A (p.Gly217Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595682_3595683insTACTGC | CA2584493815 | TBXA2R | c.*6_*7insCAGTAG (n.*6_*7insCAGTAG) c.983+55_983+56insCAGTAG (n.983+55_983+56insCAGTAG) c.649_650insCAGTAG (p.Ser216_Gly217insAlaVal) | gnomAD v4 |
19 | g.3595683A= | CA2318945780 | TBXA2R | c.*5T= (n.*5T=) c.983+54T= (n.983+54T=) c.648T= (p.Ser216=) | |
19 | g.3595683A>C | CA403329539 | TBXA2R | c.*5T>G (n.*5T>G) c.983+54T>G (n.983+54T>G) c.648T>G (p.Ser216Arg) | |
19 | g.3595683A>G | CA2318945779 | TBXA2R | c.*5T>C (n.*5T>C) c.983+54T>C (n.983+54T>C) c.648T>C (p.Ser216=) | dbSNP |
19 | g.3595683A>T | CA9080706 | TBXA2R | c.*5T>A (n.*5T>A) c.983+54T>A (n.983+54T>A) c.648T>A (p.Ser216Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595684C>A | CA403329546 | TBXA2R | c.*4G>T (n.*4G>T) c.983+53G>T (n.983+53G>T) c.647G>T (p.Ser216Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595684C= | CA2318945781 | TBXA2R | c.*4G= (n.*4G=) c.983+53G= (n.983+53G=) c.647G= (p.Ser216=) | |
19 | g.3595684C>G | CA403329548 | TBXA2R | c.*4G>C (n.*4G>C) c.983+53G>C (n.983+53G>C) c.647G>C (p.Ser216Thr) | |
19 | g.3595684C>T | CA403329552 | TBXA2R | c.*4G>A (n.*4G>A) c.983+53G>A (n.983+53G>A) c.647G>A (p.Ser216Asn) | |
19 | g.3595685T>A | CA403329555 | TBXA2R | c.*3A>T (n.*3A>T) c.983+52A>T (n.983+52A>T) c.646A>T (p.Ser216Cys) | |
19 | g.3595685T>C | CA403329561 | TBXA2R | c.*3A>G (n.*3A>G) c.983+52A>G (n.983+52A>G) c.646A>G (p.Ser216Gly) | gnomAD v4 |
19 | g.3595685T>G | CA403329558 | TBXA2R | c.*3A>C (n.*3A>C) c.983+52A>C (n.983+52A>C) c.646A>C (p.Ser216Arg) | |
19 | g.3595686T>C | CA2318945783 | TBXA2R | c.*2A>G (n.*2A>G) c.983+51A>G (n.983+51A>G) c.645A>G (p.Gly215=) | dbSNP gnomAD v4 |
19 | g.3595686T>G | CA9080707 | TBXA2R | c.*2A>C (n.*2A>C) c.983+51A>C (n.983+51A>C) c.645A>C (p.Gly215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595686T= | CA2318945782 | TBXA2R | c.*2A= (n.*2A=) c.983+51A= (n.983+51A=) c.645A= (p.Gly215=) | |
19 | g.3595687C>A | CA403329567 | TBXA2R | c.*1G>T (n.*1G>T) c.983+50G>T (n.983+50G>T) c.644G>T (p.Gly215Val) | gnomAD v4 |
19 | g.3595687C= | CA2318945784 | TBXA2R | c.*1G= (n.*1G=) c.983+50G= (n.983+50G=) c.644G= (p.Gly215=) | |
19 | g.3595687C>G | CA403329570 | TBXA2R | c.*1G>C (n.*1G>C) c.983+50G>C (n.983+50G>C) c.644G>C (p.Gly215Ala) | |
19 | g.3595687C>T | CA9080708 | TBXA2R | c.*1G>A (n.*1G>A) c.983+50G>A (n.983+50G>A) c.644G>A (p.Gly215Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595688C>A | CA403329576 | TBXA2R | c.1032G>T (p.Ter344Tyr) c.983+49G>T (n.983+49G>T) c.643G>T (p.Gly215Ter) | gnomAD v4 |
19 | g.3595688C= | CA2318945785 | TBXA2R | c.1032G= (p.Ter344=) c.983+49G= (n.983+49G=) c.643G= (p.Gly215=) | |
19 | g.3595688C>G | CA403329580 | TBXA2R | c.1032G>C (p.Ter344Tyr) c.983+49G>C (n.983+49G>C) c.643G>C (p.Gly215Arg) | |
19 | g.3595688C>T | CA304367874 | TBXA2R | c.1032G>A (p.Ter344=) c.983+49G>A (n.983+49G>A) c.643G>A (p.Gly215Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595689T>A | CA403329584 | TBXA2R | c.1031A>T (p.Ter344Leu) c.983+48A>T (n.983+48A>T) c.642A>T (p.Val214=) | |
19 | g.3595689T>C | CA403329587 | TBXA2R | c.1031A>G (p.Ter344Trp) c.983+48A>G (n.983+48A>G) c.642A>G (p.Val214=) | gnomAD v4 |
19 | g.3595689T>G | CA403329590 | TBXA2R | c.1031A>C (p.Ter344Ser) c.983+48A>C (n.983+48A>C) c.642A>C (p.Val214=) | |
19 | g.3595690A= | CA2318945786 | TBXA2R | c.1030T= (p.Ter344=) c.983+47T= (n.983+47T=) c.641T= (p.Val214=) | |
19 | g.3595690A>C | CA403329599 | TBXA2R | c.1030T>G (p.Ter344Glu) c.983+47T>G (n.983+47T>G) c.641T>G (p.Val214Gly) | |
19 | g.3595690A>G | CA9080709 | TBXA2R | c.1030T>C (p.Ter344Gln) c.983+47T>C (n.983+47T>C) c.641T>C (p.Val214Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595690A>T | CA403329596 | TBXA2R | c.1030T>A (p.Ter344Lys) c.983+47T>A (n.983+47T>A) c.641T>A (p.Val214Glu) | gnomAD v4 |
19 | g.3595691C>A | CA403329607 | TBXA2R | c.1029G>T (p.Gln343His) c.983+46G>T (n.983+46G>T) c.640G>T (p.Val214Leu) | |
19 | g.3595691C= | CA2318945787 | TBXA2R | c.1029G= (p.Gln343=) c.983+46G= (n.983+46G=) c.640G= (p.Val214=) | |
19 | g.3595691C>G | CA403329612 | TBXA2R | c.1029G>C (p.Gln343His) c.983+46G>C (n.983+46G>C) c.640G>C (p.Val214Leu) | gnomAD v4 |
19 | g.3595691C>T | CA403329614 | TBXA2R | c.1029G>A (p.Gln343=) c.983+46G>A (n.983+46G>A) c.640G>A (p.Val214Ile) | dbSNP gnomAD v2 |
19 | g.3595692T>A | CA403329622 | TBXA2R | c.1028A>T (p.Gln343Leu) c.983+45A>T (n.983+45A>T) c.639A>T (p.Ala213=) | |
19 | g.3595692T>C | CA9080710 | TBXA2R | c.1028A>G (p.Gln343Arg) c.983+45A>G (n.983+45A>G) c.639A>G (p.Ala213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595692T>G | CA403329626 | TBXA2R | c.1028A>C (p.Gln343Pro) c.983+45A>C (n.983+45A>C) c.639A>C (p.Ala213=) | |
19 | g.3595692T= | CA2318945788 | TBXA2R | c.1028A= (p.Gln343=) c.983+45A= (n.983+45A=) c.639A= (p.Ala213=) | |
19 | g.3595693G>A | CA403329630 | TBXA2R | c.1027C>T (p.Gln343Ter) c.983+44C>T (n.983+44C>T) c.638C>T (p.Ala213Val) | dbSNP gnomAD v4 |
19 | g.3595693G>C | CA403329631 | TBXA2R | c.1027C>G (p.Gln343Glu) c.983+44C>G (n.983+44C>G) c.638C>G (p.Ala213Gly) | |
19 | g.3595693G= | CA2318945789 | TBXA2R | c.1027C= (p.Gln343=) c.983+44C= (n.983+44C=) c.638C= (p.Ala213=) | |
19 | g.3595693G>T | CA403329634 | TBXA2R | c.1027C>A (p.Gln343Lys) c.983+44C>A (n.983+44C>A) c.638C>A (p.Ala213Glu) | |
19 | g.3595694C>A | CA403329639 | TBXA2R | c.1026G>T (p.Leu342=) c.983+43G>T (n.983+43G>T) c.637G>T (p.Ala213Ser) | |
19 | g.3595694C= | CA2318945790 | TBXA2R | c.1026G= (p.Leu342=) c.983+43G= (n.983+43G=) c.637G= (p.Ala213=) | |
19 | g.3595694C>G | CA403329650 | TBXA2R | c.1026G>C (p.Leu342=) c.983+43G>C (n.983+43G>C) c.637G>C (p.Ala213Pro) | |
19 | g.3595694C>T | CA9080711 | TBXA2R | c.1026G>A (p.Leu342=) c.983+43G>A (n.983+43G>A) c.637G>A (p.Ala213Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595695A= | CA2318945791 | TBXA2R | c.1025T= (p.Leu342=) c.983+42T= (n.983+42T=) c.636T= (p.Ala212=) | |
19 | g.3595695A>C | CA403329658 | TBXA2R | c.1025T>G (p.Leu342Arg) c.983+42T>G (n.983+42T>G) c.636T>G (p.Ala212=) | |
19 | g.3595695A>G | CA403329662 | TBXA2R | c.1025T>C (p.Leu342Pro) c.983+42T>C (n.983+42T>C) c.636T>C (p.Ala212=) | |
19 | g.3595695A>T | CA403329655 | TBXA2R | c.1025T>A (p.Leu342Gln) c.983+42T>A (n.983+42T>A) c.636T>A (p.Ala212=) | dbSNP |
19 | g.3595696G>A | CA403329667 | TBXA2R | c.1024C>T (p.Leu342=) c.983+41C>T (n.983+41C>T) c.635C>T (p.Ala212Val) | |
19 | g.3595696G>C | CA403329670 | TBXA2R | c.1024C>G (p.Leu342Val) c.983+41C>G (n.983+41C>G) c.635C>G (p.Ala212Gly) | |
19 | g.3595696G= | CA2318945792 | TBXA2R | c.1024C= (p.Leu342=) c.983+41C= (n.983+41C=) c.635C= (p.Ala212=) | |
19 | g.3595696G>T | CA403329674 | TBXA2R | c.1024C>A (p.Leu342Met) c.983+41C>A (n.983+41C>A) c.635C>A (p.Ala212Asp) | dbSNP |
19 | g.3595696_3595697delinsGC | CA2318945793 | TBXA2R | c.1023_1024delinsGC (p.Gly341=) c.983+40_983+41delinsGC (n.983+40_983+41delinsGC) c.634_635delinsGC (p.Ala212=) | |
19 | g.3595697C>A | CA403329680 | TBXA2R | c.1023G>T (p.Gly341=) c.983+40G>T (n.983+40G>T) c.634G>T (p.Ala212Ser) | gnomAD v4 |
19 | g.3595697C>G | CA403329684 | TBXA2R | c.1023G>C (p.Gly341=) c.983+40G>C (n.983+40G>C) c.634G>C (p.Ala212Pro) | |
19 | g.3595697C>T | CA403329687 | TBXA2R | c.1023G>A (p.Gly341=) c.983+40G>A (n.983+40G>A) c.634G>A (p.Ala212Thr) | gnomAD v4 |
19 | g.3595699del | CA2318945794 | TBXA2R | c.1023del (p.Leu342CysfsTer28) c.983+40del (n.983+40del) c.634del (p.Ala212LeufsTer3) | dbSNP |
19 | g.3595698C>A | CA403329695 | TBXA2R | c.1022G>T (p.Gly341Val) c.983+39G>T (n.983+39G>T) c.633G>T (p.Arg211=) | |
19 | g.3595698C= | CA2318945795 | TBXA2R | c.1022G= (p.Gly341=) c.983+39G= (n.983+39G=) c.633G= (p.Arg211=) | |
19 | g.3595698C>G | CA403329688 | TBXA2R | c.1022G>C (p.Gly341Ala) c.983+39G>C (n.983+39G>C) c.633G>C (p.Arg211=) | dbSNP |
19 | g.3595698C>T | CA403329692 | TBXA2R | c.1022G>A (p.Gly341Glu) c.983+39G>A (n.983+39G>A) c.633G>A (p.Arg211=) | dbSNP gnomAD v4 COSMIC |
19 | g.3595699C>A | CA403329698 | TBXA2R | c.1021G>T (p.Gly341Trp) c.983+38G>T (n.983+38G>T) c.632G>T (p.Arg211Leu) | gnomAD v4 |
19 | g.3595699C= | CA2318945796 | TBXA2R | c.1021G= (p.Gly341=) c.983+38G= (n.983+38G=) c.632G= (p.Arg211=) | |
19 | g.3595699C>G | CA403329700 | TBXA2R | c.1021G>C (p.Gly341Arg) c.983+38G>C (n.983+38G>C) c.632G>C (p.Arg211Pro) | gnomAD v4 |
19 | g.3595699C>T | CA9080712 | TBXA2R | c.1021G>A (p.Gly341Arg) c.983+38G>A (n.983+38G>A) c.632G>A (p.Arg211Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595701_3595705dup | CA881803839 | TBXA2R | c.1017_1021dup (p.Gly341AlafsTer31) c.983+34_983+38dup (n.983+34_983+38dup) c.628_632dup (p.Ala212SerfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595700_3595706del | CA2580096153 | TBXA2R | c.1015_1021del (p.Arg339GlyfsTer29) c.983+32_983+38del (n.983+32_983+38del) c.626_632del (p.Ala209GlyfsTer4) | ClinVar |
19 | g.3595700G>A | CA9080713 | TBXA2R | c.1020C>T (p.Ser340=) c.983+37C>T (n.983+37C>T) c.631C>T (p.Arg211Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595700G>C | CA403329711 | TBXA2R | c.1020C>G (p.Ser340=) c.983+37C>G (n.983+37C>G) c.631C>G (p.Arg211Gly) | gnomAD v4 |
19 | g.3595700G= | CA2318945797 | TBXA2R | c.1020C= (p.Ser340=) c.983+37C= (n.983+37C=) c.631C= (p.Arg211=) | |
19 | g.3595700G>T | CA2584493817 | TBXA2R | c.1020C>A (p.Ser340=) c.983+37C>A (n.983+37C>A) c.631C>A (p.Arg211=) | gnomAD v4 |
19 | g.3595700_3595701del | CA2584493816 | TBXA2R | c.1019_1020del (p.Ser340TrpfsTer?) c.983+36_983+37del (n.983+36_983+37del) c.630_631del (p.Arg211GlyfsTer29) | gnomAD v4 |
19 | g.3595701G>A | CA403329726 | TBXA2R | c.1019C>T (p.Ser340Phe) c.983+36C>T (n.983+36C>T) c.630C>T (p.Leu210=) | dbSNP gnomAD v4 |
19 | g.3595701G>C | CA9080714 | TBXA2R | c.1019C>G (p.Ser340Cys) c.983+36C>G (n.983+36C>G) c.630C>G (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595701G= | CA2318945798 | TBXA2R | c.1019C= (p.Ser340=) c.983+36C= (n.983+36C=) c.630C= (p.Leu210=) | |
19 | g.3595701G>T | CA403329717 | TBXA2R | c.1019C>A (p.Ser340Tyr) c.983+36C>A (n.983+36C>A) c.630C>A (p.Leu210=) | |
19 | g.3595702A>C | CA403329730 | TBXA2R | c.1018T>G (p.Ser340Ala) c.983+35T>G (n.983+35T>G) c.629T>G (p.Leu210Arg) | |
19 | g.3595702A>G | CA403329740 | TBXA2R | c.1018T>C (p.Ser340Pro) c.983+35T>C (n.983+35T>C) c.629T>C (p.Leu210Pro) | |
19 | g.3595702A>T | CA403329734 | TBXA2R | c.1018T>A (p.Ser340Thr) c.983+35T>A (n.983+35T>A) c.629T>A (p.Leu210His) | |
19 | g.3595703G>A | CA403329743 | TBXA2R | c.1017C>T (p.Arg339=) c.983+34C>T (n.983+34C>T) c.628C>T (p.Leu210Phe) | |
19 | g.3595703G>C | CA403329755 | TBXA2R | c.1017C>G (p.Arg339=) c.983+34C>G (n.983+34C>G) c.628C>G (p.Leu210Val) | |
19 | g.3595703G= | CA2318945799 | TBXA2R | c.1017C= (p.Arg339=) c.983+34C= (n.983+34C=) c.628C= (p.Leu210=) | |
19 | g.3595703G>T | CA9080715 | TBXA2R | c.1017C>A (p.Arg339=) c.983+34C>A (n.983+34C>A) c.628C>A (p.Leu210Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595706_3595710del | CA2584493818 | TBXA2R | c.1013_1017del (p.Gln338LeufsTer?) c.983+30_983+34del (n.983+30_983+34del) c.624_628del (p.Ala209ProfsTer?) | gnomAD v4 |
19 | g.3595704C>A | CA403329759 | TBXA2R | c.1016G>T (p.Arg339Leu) c.983+33G>T (n.983+33G>T) c.627G>T (p.Ala209=) | gnomAD v4 |
19 | g.3595704C= | CA2318945800 | TBXA2R | c.1016G= (p.Arg339=) c.983+33G= (n.983+33G=) c.627G= (p.Ala209=) | |
19 | g.3595704C>G | CA304367881 | TBXA2R | c.1016G>C (p.Arg339Pro) c.983+33G>C (n.983+33G>C) c.627G>C (p.Ala209=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595704C>T | CA9080716 | TBXA2R | c.1016G>A (p.Arg339His) c.983+33G>A (n.983+33G>A) c.627G>A (p.Ala209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595705G>A | CA9080717 | TBXA2R | c.1015C>T (p.Arg339Cys) c.983+32C>T (n.983+32C>T) c.626C>T (p.Ala209Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595705G>C | CA403329771 | TBXA2R | c.1015C>G (p.Arg339Gly) c.983+32C>G (n.983+32C>G) c.626C>G (p.Ala209Gly) | |
19 | g.3595705G= | CA2318945801 | TBXA2R | c.1015C= (p.Arg339=) c.983+32C= (n.983+32C=) c.626C= (p.Ala209=) | |
19 | g.3595705G>T | CA403329774 | TBXA2R | c.1015C>A (p.Arg339Ser) c.983+32C>A (n.983+32C>A) c.626C>A (p.Ala209Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595706C>A | CA403329781 | TBXA2R | c.1014G>T (p.Gln338His) c.983+31G>T (n.983+31G>T) c.625G>T (p.Ala209Ser) | gnomAD v4 |
19 | g.3595706C>G | CA403329784 | TBXA2R | c.1014G>C (p.Gln338His) c.983+31G>C (n.983+31G>C) c.625G>C (p.Ala209Pro) | |
19 | g.3595706C>T | CA403329789 | TBXA2R | c.1014G>A (p.Gln338=) c.983+31G>A (n.983+31G>A) c.625G>A (p.Ala209Thr) | |
19 | g.3595707T>A | CA403329793 | TBXA2R | c.1013A>T (p.Gln338Leu) c.983+30A>T (n.983+30A>T) c.624A>T (p.Ala208=) | ClinVar |
19 | g.3595707T>C | CA403329797 | TBXA2R | c.1013A>G (p.Gln338Arg) c.983+30A>G (n.983+30A>G) c.624A>G (p.Ala208=) | |
19 | g.3595707T>G | CA403329813 | TBXA2R | c.1013A>C (p.Gln338Pro) c.983+30A>C (n.983+30A>C) c.624A>C (p.Ala208=) | |
19 | g.3595708G>A | CA403329815 | TBXA2R | c.1012C>T (p.Gln338Ter) c.983+29C>T (n.983+29C>T) c.623C>T (p.Ala208Val) | |
19 | g.3595708G>C | CA403329819 | TBXA2R | c.1012C>G (p.Gln338Glu) c.983+29C>G (n.983+29C>G) c.623C>G (p.Ala208Gly) | |
19 | g.3595708G>T | CA403329817 | TBXA2R | c.1012C>A (p.Gln338Lys) c.983+29C>A (n.983+29C>A) c.623C>A (p.Ala208Glu) | gnomAD v4 |
19 | g.3595709C>A | CA403329821 | TBXA2R | c.1011G>T (p.Thr337=) c.983+28G>T (n.983+28G>T) c.622G>T (p.Ala208Ser) | dbSNP gnomAD v4 |
19 | g.3595709C= | CA2318945803 | TBXA2R | c.1011G= (p.Thr337=) c.983+28G= (n.983+28G=) c.622G= (p.Ala208=) | |
19 | g.3595709C>G | CA403329829 | TBXA2R | c.1011G>C (p.Thr337=) c.983+28G>C (n.983+28G>C) c.622G>C (p.Ala208Pro) | |
19 | g.3595709C>T | CA304367883 | TBXA2R | c.1011G>A (p.Thr337=) c.983+28G>A (n.983+28G>A) c.622G>A (p.Ala208Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595709_3595710delinsCG | CA2318945802 | TBXA2R | c.1010_1011delinsCG (p.Thr337=) c.983+27_983+28delinsCG (n.983+27_983+28delinsCG) c.621_622delinsCG (p.His207=) | |
19 | g.3595710del | CA881803877 | TBXA2R | c.1010del (p.Thr337SerfsTer?) c.983+27del (n.983+27del) c.621del (p.His207GlnfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595710G>A | CA304367885 | TBXA2R | c.1010C>T (p.Thr337Met) c.983+27C>T (n.983+27C>T) c.621C>T (p.His207=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595710G>C | CA403329835 | TBXA2R | c.1010C>G (p.Thr337Arg) c.983+27C>G (n.983+27C>G) c.621C>G (p.His207Gln) | |
19 | g.3595710G= | CA2318945804 | TBXA2R | c.1010C= (p.Thr337=) c.983+27C= (n.983+27C=) c.621C= (p.His207=) | |
19 | g.3595710G>T | CA403329836 | TBXA2R | c.1010C>A (p.Thr337Lys) c.983+27C>A (n.983+27C>A) c.621C>A (p.His207Gln) | ClinVar |
19 | g.3595711T>A | CA403329839 | TBXA2R | c.1009A>T (p.Thr337Ser) c.983+26A>T (n.983+26A>T) c.620A>T (p.His207Leu) | |
19 | g.3595711T>C | CA9080718 | TBXA2R | c.1009A>G (p.Thr337Ala) c.983+26A>G (n.983+26A>G) c.620A>G (p.His207Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595711T>G | CA403329842 | TBXA2R | c.1009A>C (p.Thr337Pro) c.983+26A>C (n.983+26A>C) c.620A>C (p.His207Pro) | |
19 | g.3595711T= | CA2318945805 | TBXA2R | c.1009A= (p.Thr337=) c.983+26A= (n.983+26A=) c.620A= (p.His207=) | |
19 | g.3595712G>A | CA9080719 | TBXA2R | c.1008C>T (p.Leu336=) c.983+25C>T (n.983+25C>T) c.619C>T (p.His207Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595712G>C | CA403329847 | TBXA2R | c.1008C>G (p.Leu336=) c.983+25C>G (n.983+25C>G) c.619C>G (p.His207Asp) | |
19 | g.3595712G= | CA2318945806 | TBXA2R | c.1008C= (p.Leu336=) c.983+25C= (n.983+25C=) c.619C= (p.His207=) | |
19 | g.3595712G>T | CA403329844 | TBXA2R | c.1008C>A (p.Leu336=) c.983+25C>A (n.983+25C>A) c.619C>A (p.His207Asn) | |
19 | g.3595713A= | CA2318945807 | TBXA2R | c.1007T= (p.Leu336=) c.983+24T= (n.983+24T=) c.618T= (p.Ala206=) | |
19 | g.3595713A>C | CA403329854 | TBXA2R | c.1007T>G (p.Leu336Arg) c.983+24T>G (n.983+24T>G) c.618T>G (p.Ala206=) | |
19 | g.3595713A>G | CA403329858 | TBXA2R | c.1007T>C (p.Leu336Pro) c.983+24T>C (n.983+24T>C) c.618T>C (p.Ala206=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595713A>T | CA403329862 | TBXA2R | c.1007T>A (p.Leu336His) c.983+24T>A (n.983+24T>A) c.618T>A (p.Ala206=) | |
19 | g.3595714G>A | CA403329877 | TBXA2R | c.1006C>T (p.Leu336Phe) c.983+23C>T (n.983+23C>T) c.617C>T (p.Ala206Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595714G>C | CA403329879 | TBXA2R | c.1006C>G (p.Leu336Val) c.983+23C>G (n.983+23C>G) c.617C>G (p.Ala206Gly) | |
19 | g.3595714G= | CA2318945808 | TBXA2R | c.1006C= (p.Leu336=) c.983+23C= (n.983+23C=) c.617C= (p.Ala206=) | |
19 | g.3595714G>T | CA403329881 | TBXA2R | c.1006C>A (p.Leu336Ile) c.983+23C>A (n.983+23C>A) c.617C>A (p.Ala206Asp) | gnomAD v4 |
19 | g.3595715C>A | CA403329883 | TBXA2R | c.1005G>T (p.Gln335His) c.983+22G>T (n.983+22G>T) c.616G>T (p.Ala206Ser) | gnomAD v4 |
19 | g.3595715C>G | CA403329885 | TBXA2R | c.1005G>C (p.Gln335His) c.983+22G>C (n.983+22G>C) c.616G>C (p.Ala206Pro) | gnomAD v4 |
19 | g.3595715C>T | CA403329886 | TBXA2R | c.1005G>A (p.Gln335=) c.983+22G>A (n.983+22G>A) c.616G>A (p.Ala206Thr) | gnomAD v4 |
19 | g.3595716T>A | CA403329889 | TBXA2R | c.1004A>T (p.Gln335Leu) c.983+21A>T (n.983+21A>T) c.615A>T (p.Pro205=) | |
19 | g.3595716T>C | CA403329891 | TBXA2R | c.1004A>G (p.Gln335Arg) c.983+21A>G (n.983+21A>G) c.615A>G (p.Pro205=) | |
19 | g.3595716T>G | CA403329894 | TBXA2R | c.1004A>C (p.Gln335Pro) c.983+21A>C (n.983+21A>C) c.615A>C (p.Pro205=) | |
19 | g.3595717G>A | CA403329904 | TBXA2R | c.1003C>T (p.Gln335Ter) c.983+20C>T (n.983+20C>T) c.614C>T (p.Pro205Leu) | |
19 | g.3595717G>C | CA403329898 | TBXA2R | c.1003C>G (p.Gln335Glu) c.983+20C>G (n.983+20C>G) c.614C>G (p.Pro205Arg) | |
19 | g.3595717G>T | CA403329902 | TBXA2R | c.1003C>A (p.Gln335Lys) c.983+20C>A (n.983+20C>A) c.614C>A (p.Pro205Gln) | gnomAD v4 |
19 | g.3595718G>A | CA403329907 | TBXA2R | c.1002C>T (p.Pro334=) c.983+19C>T (n.983+19C>T) c.613C>T (p.Pro205Ser) | dbSNP gnomAD v2 |
19 | g.3595718G>C | CA403329908 | TBXA2R | c.1002C>G (p.Pro334=) c.983+19C>G (n.983+19C>G) c.613C>G (p.Pro205Ala) | gnomAD v4 |
19 | g.3595718G= | CA2318945809 | TBXA2R | c.1002C= (p.Pro334=) c.983+19C= (n.983+19C=) c.613C= (p.Pro205=) | |
19 | g.3595718G>T | CA403329909 | TBXA2R | c.1002C>A (p.Pro334=) c.983+19C>A (n.983+19C>A) c.613C>A (p.Pro205Thr) | gnomAD v4 |
19 | g.3595719G>A | CA403329910 | TBXA2R | c.1001C>T (p.Pro334Leu) c.983+18C>T (n.983+18C>T) c.612C>T (p.Ala204=) | dbSNP gnomAD v2 |
19 | g.3595719G>C | CA403329911 | TBXA2R | c.1001C>G (p.Pro334Arg) c.983+18C>G (n.983+18C>G) c.612C>G (p.Ala204=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595719G= | CA2318945810 | TBXA2R | c.1001C= (p.Pro334=) c.983+18C= (n.983+18C=) c.612C= (p.Ala204=) | |
19 | g.3595719G>T | CA403329913 | TBXA2R | c.1001C>A (p.Pro334His) c.983+18C>A (n.983+18C>A) c.612C>A (p.Ala204=) | gnomAD v4 |
19 | g.3595720G>A | CA403329922 | TBXA2R | c.1000C>T (p.Pro334Ser) c.983+17C>T (n.983+17C>T) c.611C>T (p.Ala204Val) | gnomAD v4 |
19 | g.3595720G>C | CA403329931 | TBXA2R | c.1000C>G (p.Pro334Ala) c.983+17C>G (n.983+17C>G) c.611C>G (p.Ala204Gly) | |
19 | g.3595720G>T | CA403329932 | TBXA2R | c.1000C>A (p.Pro334Thr) c.983+17C>A (n.983+17C>A) c.611C>A (p.Ala204Asp) | |
19 | g.3595721C>A | CA9080720 | TBXA2R | c.999G>T (p.Gln333His) c.983+16G>T (n.983+16G>T) c.610G>T (p.Ala204Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595721C= | CA2318945811 | TBXA2R | c.999G= (p.Gln333=) c.983+16G= (n.983+16G=) c.610G= (p.Ala204=) | |
19 | g.3595721C>G | CA403329936 | TBXA2R | c.999G>C (p.Gln333His) c.983+16G>C (n.983+16G>C) c.610G>C (p.Ala204Pro) | dbSNP |
19 | g.3595721C>T | CA403329940 | TBXA2R | c.999G>A (p.Gln333=) c.983+16G>A (n.983+16G>A) c.610G>A (p.Ala204Thr) | |
19 | g.3595722T>A | CA403329948 | TBXA2R | c.998A>T (p.Gln333Leu) c.983+15A>T (n.983+15A>T) c.609A>T (p.Pro203=) | |
19 | g.3595722T>C | CA403329961 | TBXA2R | c.998A>G (p.Gln333Arg) c.983+15A>G (n.983+15A>G) c.609A>G (p.Pro203=) | gnomAD v4 |
19 | g.3595722T>G | CA403329946 | TBXA2R | c.998A>C (p.Gln333Pro) c.983+15A>C (n.983+15A>C) c.609A>C (p.Pro203=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595722T= | CA2318945812 | TBXA2R | c.998A= (p.Gln333=) c.983+15A= (n.983+15A=) c.609A= (p.Pro203=) | |
19 | g.3595722dup | CA2576567969 | TBXA2R | c.998dup (p.Pro334AlafsTer?) c.983+15dup (n.983+15dup) c.609dup (p.Ala204SerfsTer?) | |
19 | g.3595723G>A | CA9080721 | TBXA2R | c.997C>T (p.Gln333Ter) c.983+14C>T (n.983+14C>T) c.608C>T (p.Pro203Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595723G>C | CA403329966 | TBXA2R | c.997C>G (p.Gln333Glu) c.983+14C>G (n.983+14C>G) c.608C>G (p.Pro203Arg) | |
19 | g.3595723G= | CA2318945813 | TBXA2R | c.997C= (p.Gln333=) c.983+14C= (n.983+14C=) c.608C= (p.Pro203=) | |
19 | g.3595723G>T | CA403329968 | TBXA2R | c.997C>A (p.Gln333Lys) c.983+14C>A (n.983+14C>A) c.608C>A (p.Pro203Gln) | |
19 | g.3595724G>A | CA403329971 | TBXA2R | c.996C>T (p.Leu332=) c.983+13C>T (n.983+13C>T) c.607C>T (p.Pro203Ser) | |
19 | g.3595724G>C | CA403329974 | TBXA2R | c.996C>G (p.Leu332=) c.983+13C>G (n.983+13C>G) c.607C>G (p.Pro203Ala) | gnomAD v4 |
19 | g.3595724G>T | CA403329977 | TBXA2R | c.996C>A (p.Leu332=) c.983+13C>A (n.983+13C>A) c.607C>A (p.Pro203Thr) | gnomAD v4 |
19 | g.3595725A>C | CA403329987 | TBXA2R | c.995T>G (p.Leu332Arg) c.983+12T>G (n.983+12T>G) c.606T>G (p.Pro202=) | |
19 | g.3595725A>G | CA403329981 | TBXA2R | c.995T>C (p.Leu332Pro) c.983+12T>C (n.983+12T>C) c.606T>C (p.Pro202=) | ClinVar gnomAD v4 |
19 | g.3595725A>T | CA403329984 | TBXA2R | c.995T>A (p.Leu332His) c.983+12T>A (n.983+12T>A) c.606T>A (p.Pro202=) | |
19 | g.3595726G>A | CA403329991 | TBXA2R | c.994C>T (p.Leu332Phe) c.983+11C>T (n.983+11C>T) c.605C>T (p.Pro202Leu) | dbSNP gnomAD v4 COSMIC |
19 | g.3595726G>C | CA403329994 | TBXA2R | c.994C>G (p.Leu332Val) c.983+11C>G (n.983+11C>G) c.605C>G (p.Pro202Arg) | |
19 | g.3595726G= | CA2318945814 | TBXA2R | c.994C= (p.Leu332=) c.983+11C= (n.983+11C=) c.605C= (p.Pro202=) | |
19 | g.3595726G>T | CA403329997 | TBXA2R | c.994C>A (p.Leu332Ile) c.983+11C>A (n.983+11C>A) c.605C>A (p.Pro202His) | |
19 | g.3595727G>A | CA403330000 | TBXA2R | c.993C>T (p.Ser331=) c.983+10C>T (n.983+10C>T) c.604C>T (p.Pro202Ser) | dbSNP gnomAD v4 |
19 | g.3595727G>C | CA403330003 | TBXA2R | c.993C>G (p.Ser331=) c.983+10C>G (n.983+10C>G) c.604C>G (p.Pro202Ala) | dbSNP gnomAD v4 |
19 | g.3595727G= | CA2318945815 | TBXA2R | c.993C= (p.Ser331=) c.983+10C= (n.983+10C=) c.604C= (p.Pro202=) | |
19 | g.3595727G>T | CA403330007 | TBXA2R | c.993C>A (p.Ser331=) c.983+10C>A (n.983+10C>A) c.604C>A (p.Pro202Thr) | gnomAD v4 |
19 | g.3595728G>A | CA403330009 | TBXA2R | c.992C>T (p.Ser331Phe) c.983+9C>T (n.983+9C>T) c.603C>T (p.Val201=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595728G>C | CA403330014 | TBXA2R | c.992C>G (p.Ser331Cys) c.983+9C>G (n.983+9C>G) c.603C>G (p.Val201=) | |
19 | g.3595728G= | CA2318945816 | TBXA2R | c.992C= (p.Ser331=) c.983+9C= (n.983+9C=) c.603C= (p.Val201=) | |
19 | g.3595728G>T | CA403330012 | TBXA2R | c.992C>A (p.Ser331Tyr) c.983+9C>A (n.983+9C>A) c.603C>A (p.Val201=) | gnomAD v4 |
19 | g.3595729A>C | CA403330021 | TBXA2R | c.991T>G (p.Ser331Ala) c.983+8T>G (n.983+8T>G) c.602T>G (p.Val201Gly) | |
19 | g.3595729A>G | CA403330022 | TBXA2R | c.991T>C (p.Ser331Pro) c.983+8T>C (n.983+8T>C) c.602T>C (p.Val201Ala) | |
19 | g.3595729A>T | CA403330025 | TBXA2R | c.991T>A (p.Ser331Thr) c.983+8T>A (n.983+8T>A) c.602T>A (p.Val201Asp) | |
19 | g.3595730C>A | CA403330032 | TBXA2R | c.990G>T (p.Leu330=) c.983+7G>T (n.983+7G>T) c.601G>T (p.Val201Phe) | |
19 | g.3595730C>G | CA403330035 | TBXA2R | c.990G>C (p.Leu330=) c.983+7G>C (n.983+7G>C) c.601G>C (p.Val201Leu) | |
19 | g.3595730C>T | CA403330038 | TBXA2R | c.990G>A (p.Leu330=) c.983+7G>A (n.983+7G>A) c.601G>A (p.Val201Ile) | |
19 | g.3595731A>C | CA403330042 | TBXA2R | c.989T>G (p.Leu330Arg) c.983+6T>G (n.983+6T>G) c.600T>G (p.Ala200=) | |
19 | g.3595731A>G | CA403330044 | TBXA2R | c.989T>C (p.Leu330Pro) c.983+6T>C (n.983+6T>C) c.600T>C (p.Ala200=) | gnomAD v4 |
19 | g.3595731A>T | CA403330047 | TBXA2R | c.989T>A (p.Leu330Gln) c.983+6T>A (n.983+6T>A) c.600T>A (p.Ala200=) | |
19 | g.3595732G>A | CA403330049 | TBXA2R | c.988C>T (p.Leu330=) c.983+5C>T (n.983+5C>T) c.599C>T (p.Ala200Val) | |
19 | g.3595732G>C | CA403330052 | TBXA2R | c.988C>G (p.Leu330Val) c.983+5C>G (n.983+5C>G) c.599C>G (p.Ala200Gly) | |
19 | g.3595732G= | CA2318945817 | TBXA2R | c.988C= (p.Leu330=) c.983+5C= (n.983+5C=) c.599C= (p.Ala200=) | |
19 | g.3595732G>T | CA9080722 | TBXA2R | c.988C>A (p.Leu330Met) c.983+5C>A (n.983+5C>A) c.599C>A (p.Ala200Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595733C>A | CA403330058 | TBXA2R | c.987G>T (p.Ser329=) c.983+4G>T (n.983+4G>T) c.598G>T (p.Ala200Ser) | gnomAD v4 |
19 | g.3595733C= | CA2318945818 | TBXA2R | c.987G= (p.Ser329=) c.983+4G= (n.983+4G=) c.598G= (p.Ala200=) | |
19 | g.3595733C>G | CA403330062 | TBXA2R | c.987G>C (p.Ser329=) c.983+4G>C (n.983+4G>C) c.598G>C (p.Ala200Pro) | |
19 | g.3595733C>T | CA403330060 | TBXA2R | c.987G>A (p.Ser329=) c.983+4G>A (n.983+4G>A) c.598G>A (p.Ala200Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595734G>A | CA304367890 | TBXA2R | c.986C>T (p.Ser329Leu) c.983+3C>T (n.983+3C>T) c.597C>T (p.Val199=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595734G>C | CA403330066 | TBXA2R | c.986C>G (p.Ser329Trp) c.983+3C>G (n.983+3C>G) c.597C>G (p.Val199=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595734G= | CA2318945819 | TBXA2R | c.986C= (p.Ser329=) c.983+3C= (n.983+3C=) c.597C= (p.Val199=) | |
19 | g.3595734G>T | CA403330068 | TBXA2R | c.986C>A (p.Ser329Ter) c.983+3C>A (n.983+3C>A) c.597C>A (p.Val199=) | gnomAD v4 |
19 | g.3595735A>C | CA403330071 | TBXA2R | c.985T>G (p.Ser329Ala) c.983+2T>G (n.983+2T>G) c.596T>G (p.Val199Gly) | |
19 | g.3595735A>G | CA403330073 | TBXA2R | c.985T>C (p.Ser329Pro) c.983+2T>C (n.983+2T>C) c.596T>C (p.Val199Ala) | |
19 | g.3595735A>T | CA403330076 | TBXA2R | c.985T>A (p.Ser329Thr) c.983+2T>A (n.983+2T>A) c.596T>A (p.Val199Asp) | |
19 | g.3595736C>A | CA403330083 | TBXA2R | c.984G>T (p.Arg328Ser) c.983+1G>T (n.983+1G>T) c.595G>T (p.Val199Phe) | gnomAD v4 |
19 | g.3595736C>G | CA403330084 | TBXA2R | c.984G>C (p.Arg328Ser) c.983+1G>C (n.983+1G>C) c.595G>C (p.Val199Leu) | |
19 | g.3595736C>T | CA403330085 | TBXA2R | c.984G>A (p.Arg328=) c.983+1G>A (n.983+1G>A) c.595G>A (p.Val199Ile) | |
19 | g.3595737C>A | CA403330086 | TBXA2R | c.983G>T (p.Arg328Met) c.983G>T (p.Arg328Ile) c.594G>T (p.Gln198His) | |
19 | g.3595737C= | CA2318945820 | TBXA2R | c.983G= (p.Arg328=) c.594G= (p.Gln198=) | |
19 | g.3595737C>G | CA9080723 | TBXA2R | c.983G>C (p.Arg328Thr) c.594G>C (p.Gln198His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595737C>T | CA403330088 | TBXA2R | c.983G>A (p.Arg328Lys) c.594G>A (p.Gln198=) | |
19 | g.3595738T>A | CA403330094 | TBXA2R | c.982A>T (p.Arg328Trp) c.982A>T (p.Arg328Ter) c.593A>T (p.Gln198Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595738T>C | CA9080724 | TBXA2R | c.982A>G (p.Arg328Gly) c.593A>G (p.Gln198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595738T>G | CA403330091 | TBXA2R | c.982A>C (p.Arg328=) c.593A>C (p.Gln198Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595738T= | CA2318945821 | TBXA2R | c.982A= (p.Arg328=) c.593A= (p.Gln198=) | |
19 | g.3595739G>A | CA403330096 | TBXA2R | c.981C>T (p.Pro327=) c.592C>T (p.Gln198Ter) | |
19 | g.3595739G>C | CA403330098 | TBXA2R | c.981C>G (p.Pro327=) c.592C>G (p.Gln198Glu) | |
19 | g.3595739G>T | CA403330100 | TBXA2R | c.981C>A (p.Pro327=) c.592C>A (p.Gln198Lys) | |
19 | g.3595740G>A | CA403330103 | TBXA2R | c.980C>T (p.Pro327Leu) c.591C>T (p.Ala197=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595740G>C | CA403330105 | TBXA2R | c.980C>G (p.Pro327Arg) c.591C>G (p.Ala197=) | |
19 | g.3595740G= | CA2318945822 | TBXA2R | c.980C= (p.Pro327=) c.591C= (p.Ala197=) | |
19 | g.3595740G>T | CA403330106 | TBXA2R | c.980C>A (p.Pro327His) c.591C>A (p.Ala197=) | |
19 | g.3595741G>A | CA403330107 | TBXA2R | c.979C>T (p.Pro327Ser) c.590C>T (p.Ala197Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595741G>C | CA403330108 | TBXA2R | c.979C>G (p.Pro327Ala) c.590C>G (p.Ala197Gly) | |
19 | g.3595741G= | CA2318945823 | TBXA2R | c.979C= (p.Pro327=) c.590C= (p.Ala197=) | |
19 | g.3595741G>T | CA403330109 | TBXA2R | c.979C>A (p.Pro327Thr) c.590C>A (p.Ala197Asp) | gnomAD v4 |
19 | g.3595742C>A | CA403330111 | TBXA2R | c.978G>T (p.Arg326=) c.589G>T (p.Ala197Ser) | gnomAD v4 |
19 | g.3595742C>G | CA403330113 | TBXA2R | c.978G>C (p.Arg326=) c.589G>C (p.Ala197Pro) | |
19 | g.3595742C>T | CA403330114 | TBXA2R | c.978G>A (p.Arg326=) c.589G>A (p.Ala197Thr) | |
19 | g.3595743C>A | CA403330119 | TBXA2R | c.977G>T (p.Arg326Leu) c.588G>T (p.Pro196=) | gnomAD v4 |
19 | g.3595743C= | CA2318945824 | TBXA2R | c.977G= (p.Arg326=) c.588G= (p.Pro196=) | |
19 | g.3595743C>G | CA403330118 | TBXA2R | c.977G>C (p.Arg326Pro) c.588G>C (p.Pro196=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595743C>T | CA9080725 | TBXA2R | c.977G>A (p.Arg326Gln) c.588G>A (p.Pro196=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.3595744G>A | CA9080726 | TBXA2R | c.976C>T (p.Arg326Trp) c.587C>T (p.Pro196Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595744G>C | CA403330133 | TBXA2R | c.976C>G (p.Arg326Gly) c.587C>G (p.Pro196Arg) | |
19 | g.3595744G= | CA2318945825 | TBXA2R | c.976C= (p.Arg326=) c.587C= (p.Pro196=) | |
19 | g.3595744G>T | CA403330123 | TBXA2R | c.976C>A (p.Arg326=) c.587C>A (p.Pro196Gln) | gnomAD v4 |
19 | g.3595745G>A | CA403330139 | TBXA2R | c.975C>T (p.Thr325=) c.586C>T (p.Pro196Ser) | |
19 | g.3595745G>C | CA403330142 | TBXA2R | c.975C>G (p.Thr325=) c.586C>G (p.Pro196Ala) | gnomAD v4 |
19 | g.3595745G>T | CA403330145 | TBXA2R | c.975C>A (p.Thr325=) c.586C>A (p.Pro196Thr) | gnomAD v4 |
19 | g.3595746G>A | CA403330149 | TBXA2R | c.974C>T (p.Thr325Ile) c.585C>T (p.His195=) | |
19 | g.3595746G>C | CA403330153 | TBXA2R | c.974C>G (p.Thr325Ser) c.585C>G (p.His195Gln) | |
19 | g.3595746G>T | CA403330155 | TBXA2R | c.974C>A (p.Thr325Asn) c.585C>A (p.His195Gln) | |
19 | g.3595747T>A | CA403330158 | TBXA2R | c.973A>T (p.Thr325Ser) c.584A>T (p.His195Leu) | |
19 | g.3595747T>C | CA403330161 | TBXA2R | c.973A>G (p.Thr325Ala) c.584A>G (p.His195Arg) | dbSNP gnomAD v2 |
19 | g.3595747T>G | CA403330165 | TBXA2R | c.973A>C (p.Thr325Pro) c.584A>C (p.His195Pro) | |
19 | g.3595747T= | CA2318945827 | TBXA2R | c.973A= (p.Thr325=) c.584A= (p.His195=) | |
19 | g.3595747_3595758delinsTGCTGAGGCGAG | CA2318945826 | TBXA2R | c.962_973delinsCTCGCCTCAGCA (p.Pro321=) c.573_584delinsCTCGCCTCAGCA (p.Ala191=) | |
19 | g.3595748G>A | CA403330170 | TBXA2R | c.972C>T (p.Ser324=) c.583C>T (p.His195Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595748G>C | CA403330181 | TBXA2R | c.972C>G (p.Ser324Arg) c.583C>G (p.His195Asp) | |
19 | g.3595748G= | CA2318945828 | TBXA2R | c.972C= (p.Ser324=) c.583C= (p.His195=) | |
19 | g.3595748G>T | CA403330183 | TBXA2R | c.972C>A (p.Ser324Arg) c.583C>A (p.His195Asn) | gnomAD v4 |
19 | g.3595752_3595762del | CA881803962 | TBXA2R | c.962_972del (p.Pro321HisfsTer?) c.573_583del (p.Ser192ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595749C>A | CA403330192 | TBXA2R | c.971G>T (p.Ser324Ile) c.582G>T (p.Gln194His) | |
19 | g.3595749C>G | CA403330186 | TBXA2R | c.971G>C (p.Ser324Thr) c.582G>C (p.Gln194His) | |
19 | g.3595749C>T | CA403330189 | TBXA2R | c.971G>A (p.Ser324Asn) c.582G>A (p.Gln194=) | gnomAD v4 |
19 | g.3595750T>A | CA403330197 | TBXA2R | c.970A>T (p.Ser324Cys) c.581A>T (p.Gln194Leu) | |
19 | g.3595750T>C | CA403330200 | TBXA2R | c.970A>G (p.Ser324Gly) c.581A>G (p.Gln194Arg) | |
19 | g.3595750T>G | CA403330206 | TBXA2R | c.970A>C (p.Ser324Arg) c.581A>C (p.Gln194Pro) | |
19 | g.3595751G>A | CA403330208 | TBXA2R | c.969C>T (p.Leu323=) c.580C>T (p.Gln194Ter) | |
19 | g.3595751G>C | CA403330212 | TBXA2R | c.969C>G (p.Leu323=) c.580C>G (p.Gln194Glu) | |
19 | g.3595751G>T | CA403330216 | TBXA2R | c.969C>A (p.Leu323=) c.580C>A (p.Gln194Lys) | |
19 | g.3595752A>C | CA403330219 | TBXA2R | c.968T>G (p.Leu323Arg) c.579T>G (p.Pro193=) | |
19 | g.3595752A>G | CA403330222 | TBXA2R | c.968T>C (p.Leu323Pro) c.579T>C (p.Pro193=) | |
19 | g.3595752A>T | CA403330224 | TBXA2R | c.968T>A (p.Leu323His) c.579T>A (p.Pro193=) | |
19 | g.3595753G>A | CA403330229 | TBXA2R | c.967C>T (p.Leu323Phe) c.578C>T (p.Pro193Leu) | |
19 | g.3595753G>C | CA403330240 | TBXA2R | c.967C>G (p.Leu323Val) c.578C>G (p.Pro193Arg) | |
19 | g.3595753G>T | CA403330244 | TBXA2R | c.967C>A (p.Leu323Ile) c.578C>A (p.Pro193His) | |
19 | g.3595754G>A | CA403330253 | TBXA2R | c.966C>T (p.Arg322=) c.577C>T (p.Pro193Ser) | |
19 | g.3595754G>C | CA403330250 | TBXA2R | c.966C>G (p.Arg322=) c.577C>G (p.Pro193Ala) | |
19 | g.3595754G>T | CA403330247 | TBXA2R | c.966C>A (p.Arg322=) c.577C>A (p.Pro193Thr) | gnomAD v4 |
19 | g.3595755C>A | CA403330259 | TBXA2R | c.965G>T (p.Arg322Leu) c.576G>T (p.Ser192=) | gnomAD v4 |
19 | g.3595755C= | CA2318945829 | TBXA2R | c.965G= (p.Arg322=) c.576G= (p.Ser192=) | |
19 | g.3595755C>G | CA403330255 | TBXA2R | c.965G>C (p.Arg322Pro) c.576G>C (p.Ser192=) | gnomAD v4 |
19 | g.3595755C>T | CA9080727 | TBXA2R | c.965G>A (p.Arg322His) c.576G>A (p.Ser192=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595756G>A | CA403330262 | TBXA2R | c.964C>T (p.Arg322Cys) c.575C>T (p.Ser192Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595756G>C | CA403330264 | TBXA2R | c.964C>G (p.Arg322Gly) c.575C>G (p.Ser192Trp) | gnomAD v4 |
19 | g.3595756G= | CA2318945830 | TBXA2R | c.964C= (p.Arg322=) c.575C= (p.Ser192=) | |
19 | g.3595756G>T | CA403330279 | TBXA2R | c.964C>A (p.Arg322Ser) c.575C>A (p.Ser192Ter) | dbSNP |
19 | g.3595757A= | CA2318945831 | TBXA2R | c.963T= (p.Pro321=) c.574T= (p.Ser192=) | |
19 | g.3595757A>C | CA403330287 | TBXA2R | c.963T>G (p.Pro321=) c.574T>G (p.Ser192Ala) | |
19 | g.3595757A>G | CA403330284 | TBXA2R | c.963T>C (p.Pro321=) c.574T>C (p.Ser192Pro) | dbSNP |
19 | g.3595757A>T | CA9080728 | TBXA2R | c.963T>A (p.Pro321=) c.574T>A (p.Ser192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595758G>A | CA403330290 | TBXA2R | c.962C>T (p.Pro321Leu) c.573C>T (p.Ala191=) | gnomAD v4 |
19 | g.3595758G>C | CA403330294 | TBXA2R | c.962C>G (p.Pro321Arg) c.573C>G (p.Ala191=) | dbSNP |
19 | g.3595758G= | CA2318945833 | TBXA2R | c.962C= (p.Pro321=) c.573C= (p.Ala191=) | |
19 | g.3595758G>T | CA403330296 | TBXA2R | c.962C>A (p.Pro321His) c.573C>A (p.Ala191=) | |
19 | g.3595758_3595767delinsGGCTGGAGAC | CA2318945832 | TBXA2R | c.953_962delinsGTCTCCAGCC (p.Arg318=) c.564_573delinsGTCTCCAGCC (p.Ala188=) | |
19 | g.3595759G>A | CA403330297 | TBXA2R | c.961C>T (p.Pro321Ser) c.572C>T (p.Ala191Val) | gnomAD v4 |
19 | g.3595759G>C | CA403330298 | TBXA2R | c.961C>G (p.Pro321Ala) c.572C>G (p.Ala191Gly) | |
19 | g.3595759G>T | CA403330301 | TBXA2R | c.961C>A (p.Pro321Thr) c.572C>A (p.Ala191Asp) | |
19 | g.3595761_3595769del | CA881803980 | TBXA2R | c.953_961del (p.Arg318_Gln320del) c.564_572del (p.Ser189_Ala191del) | dbSNP |
19 | g.3595760C>A | CA403330304 | TBXA2R | c.960G>T (p.Gln320His) c.571G>T (p.Ala191Ser) | gnomAD v4 |
19 | g.3595760C>G | CA403330314 | TBXA2R | c.960G>C (p.Gln320His) c.571G>C (p.Ala191Pro) | gnomAD v4 |
19 | g.3595760C>T | CA403330311 | TBXA2R | c.960G>A (p.Gln320=) c.571G>A (p.Ala191Thr) | |
19 | g.3595761T>A | CA403330317 | TBXA2R | c.959A>T (p.Gln320Leu) c.570A>T (p.Pro190=) | |
19 | g.3595761T>C | CA403330320 | TBXA2R | c.959A>G (p.Gln320Arg) c.570A>G (p.Pro190=) | |
19 | g.3595761T>G | CA403330322 | TBXA2R | c.959A>C (p.Gln320Pro) c.570A>C (p.Pro190=) | |
19 | g.3595762G>A | CA403330326 | TBXA2R | c.958C>T (p.Gln320Ter) c.569C>T (p.Pro190Leu) | gnomAD v4 |
19 | g.3595762G>C | CA403330327 | TBXA2R | c.958C>G (p.Gln320Glu) c.569C>G (p.Pro190Arg) | |
19 | g.3595762G>T | CA403330329 | TBXA2R | c.958C>A (p.Gln320Lys) c.569C>A (p.Pro190Gln) | |
19 | g.3595763del | CA2584493819 | TBXA2R | c.958del (p.Gln320SerfsTer?) c.569del (p.Pro190GlnfsTer25) | gnomAD v4 |
19 | g.3595763G>A | CA403330332 | TBXA2R | c.957C>T (p.Leu319=) c.568C>T (p.Pro190Ser) | |
19 | g.3595763G>C | CA9080729 | TBXA2R | c.957C>G (p.Leu319=) c.568C>G (p.Pro190Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595763G= | CA2318945834 | TBXA2R | c.957C= (p.Leu319=) c.568C= (p.Pro190=) | |
19 | g.3595763G>T | CA403330337 | TBXA2R | c.957C>A (p.Leu319=) c.568C>A (p.Pro190Thr) | |
19 | g.3595764A>C | CA403330339 | TBXA2R | c.956T>G (p.Leu319Arg) c.567T>G (p.Ser189=) | |
19 | g.3595764A>G | CA403330340 | TBXA2R | c.956T>C (p.Leu319Pro) c.567T>C (p.Ser189=) | |
19 | g.3595764A>T | CA403330341 | TBXA2R | c.956T>A (p.Leu319His) c.567T>A (p.Ser189=) | |
19 | g.3595765G>A | CA403330343 | TBXA2R | c.955C>T (p.Leu319Phe) c.566C>T (p.Ser189Phe) | |
19 | g.3595765G>C | CA403330345 | TBXA2R | c.955C>G (p.Leu319Val) c.566C>G (p.Ser189Cys) | |
19 | g.3595765G>T | CA403330342 | TBXA2R | c.955C>A (p.Leu319Ile) c.566C>A (p.Ser189Tyr) | gnomAD v4 |
19 | g.3595766A= | CA2318945835 | TBXA2R | c.954T= (p.Arg318=) c.565T= (p.Ser189=) | |
19 | g.3595766A>C | CA403330346 | TBXA2R | c.954T>G (p.Arg318=) c.565T>G (p.Ser189Ala) | |
19 | g.3595766A>G | CA9080730 | TBXA2R | c.954T>C (p.Arg318=) c.565T>C (p.Ser189Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595766A>T | CA403330348 | TBXA2R | c.954T>A (p.Arg318=) c.565T>A (p.Ser189Thr) | |
19 | g.3595767C>A | CA403330352 | TBXA2R | c.953G>T (p.Arg318Leu) c.564G>T (p.Ala188=) | gnomAD v4 |
19 | g.3595767C= | CA2318945836 | TBXA2R | c.953G= (p.Arg318=) c.564G= (p.Ala188=) | |
19 | g.3595767C>G | CA403330355 | TBXA2R | c.953G>C (p.Arg318Pro) c.564G>C (p.Ala188=) | |
19 | g.3595767C>T | CA403330356 | TBXA2R | c.953G>A (p.Arg318His) c.564G>A (p.Ala188=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595767_3595773delinsCGCCGGA | CA2318945837 | TBXA2R | c.947_953delinsTCCGGCG (p.Leu316=) c.558_564delinsTCCGGCG (p.Ala186=) | |
19 | g.3595768G>A | CA403330361 | TBXA2R | c.952C>T (p.Arg318Cys) c.563C>T (p.Ala188Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595768G>C | CA9080731 | TBXA2R | c.952C>G (p.Arg318Gly) c.563C>G (p.Ala188Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595768G= | CA2318945839 | TBXA2R | c.952C= (p.Arg318=) c.563C= (p.Ala188=) | |
19 | g.3595768G>T | CA403330359 | TBXA2R | c.952C>A (p.Arg318Ser) c.563C>A (p.Ala188Glu) | |
19 | g.3595770_3595775del | CA2318945838 | TBXA2R | c.947_952del (p.Leu316_Arg317del) c.558_563del (p.Pro187_Ala188del) | dbSNP |
19 | g.3595769C>A | CA403330363 | TBXA2R | c.951G>T (p.Arg317=) c.562G>T (p.Ala188Ser) | gnomAD v4 |
19 | g.3595769C= | CA2318945840 | TBXA2R | c.951G= (p.Arg317=) c.562G= (p.Ala188=) | |
19 | g.3595769C>G | CA403330367 | TBXA2R | c.951G>C (p.Arg317=) c.562G>C (p.Ala188Pro) | |
19 | g.3595769C>T | CA9080732 | TBXA2R | c.951G>A (p.Arg317=) c.562G>A (p.Ala188Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595770C>A | CA9080734 | TBXA2R | c.950G>T (p.Arg317Leu) c.561G>T (p.Pro187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595770C= | CA2318945841 | TBXA2R | c.950G= (p.Arg317=) c.561G= (p.Pro187=) | |
19 | g.3595770C>G | CA403330371 | TBXA2R | c.950G>C (p.Arg317Pro) c.561G>C (p.Pro187=) | |
19 | g.3595770C>T | CA9080733 | TBXA2R | c.950G>A (p.Arg317Gln) c.561G>A (p.Pro187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595771G>A | CA9080735 | TBXA2R | c.949C>T (p.Arg317Trp) c.560C>T (p.Pro187Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595771G>C | CA9080736 | TBXA2R | c.949C>G (p.Arg317Gly) c.560C>G (p.Pro187Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595771G= | CA2318945842 | TBXA2R | c.949C= (p.Arg317=) c.560C= (p.Pro187=) | |
19 | g.3595771G>T | CA403330376 | TBXA2R | c.949C>A (p.Arg317=) c.560C>A (p.Pro187Gln) | gnomAD v4 |
19 | g.3595772G>A | CA403330387 | TBXA2R | c.948C>T (p.Leu316=) c.559C>T (p.Pro187Ser) | dbSNP |
19 | g.3595772G>C | CA403330389 | TBXA2R | c.948C>G (p.Leu316=) c.559C>G (p.Pro187Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.3595772G= | CA2318945843 | TBXA2R | c.948C= (p.Leu316=) c.559C= (p.Pro187=) | |
19 | g.3595772G>T | CA403330392 | TBXA2R | c.948C>A (p.Leu316=) c.559C>A (p.Pro187Thr) | |
19 | g.3595773A>C | CA403330398 | TBXA2R | c.947T>G (p.Leu316Arg) c.558T>G (p.Ala186=) | |
19 | g.3595773A>G | CA403330399 | TBXA2R | c.947T>C (p.Leu316Pro) c.558T>C (p.Ala186=) | |
19 | g.3595773A>T | CA403330401 | TBXA2R | c.947T>A (p.Leu316His) c.558T>A (p.Ala186=) | |
19 | g.3595774G>A | CA403330403 | TBXA2R | c.946C>T (p.Leu316Phe) c.557C>T (p.Ala186Val) | gnomAD v4 |
19 | g.3595774G>C | CA403330404 | TBXA2R | c.946C>G (p.Leu316Val) c.557C>G (p.Ala186Gly) | |
19 | g.3595774G= | CA2318945844 | TBXA2R | c.946C= (p.Leu316=) c.557C= (p.Ala186=) | |
19 | g.3595774G>T | CA403330410 | TBXA2R | c.946C>A (p.Leu316Ile) c.557C>A (p.Ala186Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595776_3595780del | CA2584493820 | TBXA2R | c.942_946del (p.Val315ProfsTer?) c.553_557del (p.Arg185SerfsTer?) | gnomAD v4 |
19 | g.3595775C>A | CA403330413 | TBXA2R | c.945G>T (p.Val315=) c.556G>T (p.Ala186Ser) | gnomAD v4 |
19 | g.3595775C>G | CA403330417 | TBXA2R | c.945G>C (p.Val315=) c.556G>C (p.Ala186Pro) | |
19 | g.3595775C>T | CA403330420 | TBXA2R | c.945G>A (p.Val315=) c.556G>A (p.Ala186Thr) |