22 | g.42067025_42067045del | CA2657022141 | NAGA | c.502+68_502+88del (n.502+68_502+88del)
| gnomAD v4 |
22 | g.42067038C>A | CA2657022147 | NAGA | c.502+75G>T (n.502+75G>T)
| gnomAD v4 |
22 | g.42067040G>C | CA1025909473 | NAGA | c.502+73C>G (n.502+73C>G)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067040G= | CA2406550528 | NAGA | c.502+73C= (n.502+73C=)
| |
22 | g.42067041G>T | CA2577736785 | NAGA | c.502+72C>A (n.502+72C>A)
| |
22 | g.42067043G>A | CA2819057146 | NAGA | c.502+70C>T (n.502+70C>T)
| |
22 | g.42067045del | CA2657022148 | NAGA | c.502+70del (n.502+70del)
| gnomAD v4 |
22 | g.42067045G>A | CA324656282 | NAGA | c.502+68C>T (n.502+68C>T)
| dbSNP |
22 | g.42067045G>C | CA2657022150 | NAGA | c.502+68C>G (n.502+68C>G)
| gnomAD v4 |
22 | g.42067045G= | CA2406550529 | NAGA | c.502+68C= (n.502+68C=)
| |
22 | g.42067045G>T | CA2657022149 | NAGA | c.502+68C>A (n.502+68C>A)
| gnomAD v4 |
22 | g.42067046C= | CA2406550530 | NAGA | c.502+67G= (n.502+67G=)
| |
22 | g.42067046C>T | CA324656289 | NAGA | c.502+67G>A (n.502+67G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067047G>A | CA324656292 | NAGA | c.502+66C>T (n.502+66C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067047G= | CA2406550531 | NAGA | c.502+66C= (n.502+66C=)
| |
22 | g.42067047G>T | CA2577736786 | NAGA | c.502+66C>A (n.502+66C>A)
| gnomAD v4 |
22 | g.42067050G>A | CA2577736787 | NAGA | c.502+63C>T (n.502+63C>T)
| |
22 | g.42067052G>A | CA753287586 | NAGA | c.502+61C>T (n.502+61C>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067052G>C | CA753287588 | NAGA | c.502+61C>G (n.502+61C>G)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067052G= | CA2406550532 | NAGA | c.502+61C= (n.502+61C=)
| |
22 | g.42067055G>A | CA2406550534 | NAGA | c.502+58C>T (n.502+58C>T)
| dbSNP gnomAD v4 |
22 | g.42067055G>C | CA2577736789 | NAGA | c.502+58C>G (n.502+58C>G)
| |
22 | g.42067055G= | CA2406550533 | NAGA | c.502+58C= (n.502+58C=)
| |
22 | g.42067055G>T | CA2577736788 | NAGA | c.502+58C>A (n.502+58C>A)
| |
22 | g.42067056G>A | CA2406550535 | NAGA | c.502+57C>T (n.502+57C>T)
| dbSNP |
22 | g.42067056G= | CA2406550536 | NAGA | c.502+57C= (n.502+57C=)
| |
22 | g.42067056G>T | CA324656295 | NAGA | c.502+57C>A (n.502+57C>A)
| dbSNP gnomAD v4 |
22 | g.42067059T>C | CA2657022151 | NAGA | c.502+54A>G (n.502+54A>G)
| gnomAD v4 |
22 | g.42067060C>T | CA2819057147 | NAGA | c.502+53G>A (n.502+53G>A)
| |
22 | g.42067061C>A | CA2657022152 | NAGA | c.502+52G>T (n.502+52G>T)
| gnomAD v4 |
22 | g.42067061C>T | CA2657022153 | NAGA | c.502+52G>A (n.502+52G>A)
| gnomAD v4 |
22 | g.42067063T>C | CA2406550538 | NAGA | c.502+50A>G (n.502+50A>G)
| dbSNP gnomAD v4 |
22 | g.42067063T= | CA2406550537 | NAGA | c.502+50A= (n.502+50A=)
| |
22 | g.42067064G>A | CA639827811 | NAGA | c.502+49C>T (n.502+49C>T)
| dbSNP gnomAD v2 |
22 | g.42067064G= | CA2406550539 | NAGA | c.502+49C= (n.502+49C=)
| |
22 | g.42067065G>A | CA2657022154 | NAGA | c.502+48C>T (n.502+48C>T)
| gnomAD v4 |
22 | g.42067066C>G | CA2657022155 | NAGA | c.502+47G>C (n.502+47G>C)
| gnomAD v4 |
22 | g.42067066C>T | CA2657022156 | NAGA | c.502+47G>A (n.502+47G>A)
| gnomAD v4 |
22 | g.42067067C= | CA2406550540 | NAGA | c.502+46G= (n.502+46G=)
| |
22 | g.42067067C>T | CA10263790 | NAGA | c.502+46G>A (n.502+46G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067069C>A | CA2577736790 | NAGA | c.502+44G>T (n.502+44G>T)
| gnomAD v4 |
22 | g.42067069C>T | CA2657022157 | NAGA | c.502+44G>A (n.502+44G>A)
| gnomAD v4 |
22 | g.42067071del | CA514677963 | NAGA | c.502+44del (n.502+44del)
| |
22 | g.42067070C>A | CA639827812 | NAGA | c.502+43G>T (n.502+43G>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42067070C= | CA2406550541 | NAGA | c.502+43G= (n.502+43G=)
| |
22 | g.42067071C>G | CA2537699993 | NAGA | c.502+42G>C (n.502+42G>C)
| |
22 | g.42067072T>A | CA10263791 | NAGA | c.502+41A>T (n.502+41A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067072T>G | CA2657022158 | NAGA | c.502+41A>C (n.502+41A>C)
| gnomAD v4 |
22 | g.42067072T= | CA2406550542 | NAGA | c.502+41A= (n.502+41A=)
| |
22 | g.42067072_42067073delinsTC | CA2406550543 | NAGA | c.502+40_502+41delinsGA (n.502+40_502+41delinsGA)
| |
22 | g.42067073C>A | CA2406550544 | NAGA | c.502+40G>T (n.502+40G>T)
| dbSNP |
22 | g.42067073C= | CA2406550545 | NAGA | c.502+40G= (n.502+40G=)
| |
22 | g.42067073C>T | CA1025909483 | NAGA | c.502+40G>A (n.502+40G>A)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067076del | CA639827813 | NAGA | c.502+40del (n.502+40del)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42067075C>T | CA2577736791 | NAGA | c.502+38G>A (n.502+38G>A)
| |
22 | g.42067076C>A | CA2657022159 | NAGA | c.502+37G>T (n.502+37G>T)
| gnomAD v4 |
22 | g.42067076C= | CA2406550546 | NAGA | c.502+37G= (n.502+37G=)
| |
22 | g.42067076C>T | CA10263792 | NAGA | c.502+37G>A (n.502+37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067077G>A | CA10263793 | NAGA | c.502+36C>T (n.502+36C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067077G>C | CA2406550548 | NAGA | c.502+36C>G (n.502+36C>G)
| dbSNP |
22 | g.42067077G= | CA2406550547 | NAGA | c.502+36C= (n.502+36C=)
| |
22 | g.42067077G>T | CA2657022160 | NAGA | c.502+36C>A (n.502+36C>A)
| gnomAD v4 |
22 | g.42067080del | CA2657022161 | NAGA | c.502+35del (n.502+35del)
| gnomAD v4 |
22 | g.42067081G>T | CA2577736792 | NAGA | c.502+32C>A (n.502+32C>A)
| |
22 | g.42067082C= | CA2406550549 | NAGA | c.502+31G= (n.502+31G=)
| |
22 | g.42067082C>T | CA10263794 | NAGA | c.502+31G>A (n.502+31G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067084dup | CA2657022162 | NAGA | c.502+29dup (n.502+29dup)
| gnomAD v4 |
22 | g.42067085A>G | CA2738203757 | NAGA | c.502+28T>C (n.502+28T>C)
| dbSNP |
22 | g.42067086C= | CA2406550550 | NAGA | c.502+27G= (n.502+27G=)
| |
22 | g.42067086C>T | CA639827814 | NAGA | c.502+27G>A (n.502+27G>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42067087G>A | CA10263795 | NAGA | c.502+26C>T (n.502+26C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067087G>C | CA2580671338 | NAGA | c.502+26C>G (n.502+26C>G)
| |
22 | g.42067087G= | CA2406550551 | NAGA | c.502+26C= (n.502+26C=)
| |
22 | g.42067087G>T | CA2580671339 | NAGA | c.502+26C>A (n.502+26C>A)
| |
22 | g.42067089G>A | CA2657022163 | NAGA | c.502+24C>T (n.502+24C>T)
| gnomAD v4 |
22 | g.42067089G= | CA2406550552 | NAGA | c.502+24C= (n.502+24C=)
| |
22 | g.42067089G>T | CA2406550553 | NAGA | c.502+24C>A (n.502+24C>A)
| dbSNP |
22 | g.42067092C= | CA2406550554 | NAGA | c.502+21G= (n.502+21G=)
| |
22 | g.42067092C>T | CA10263796 | NAGA | c.502+21G>A (n.502+21G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067093C>T | CA2577736793 | NAGA | c.502+20G>A (n.502+20G>A)
| |
22 | g.42067094A= | CA2406550555 | NAGA | c.502+19T= (n.502+19T=)
| |
22 | g.42067094A>C | CA753287596 | NAGA | c.502+19T>G (n.502+19T>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067095G= | CA2406550556 | NAGA | c.502+18C= (n.502+18C=)
| |
22 | g.42067095G>T | CA10263797 | NAGA | c.502+18C>A (n.502+18C>A)
| ClinVar dbSNP ExAC gnomAD v2 |
22 | g.42067096C>A | CA10263799 | NAGA | c.502+17G>T (n.502+17G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067096C= | CA2406550557 | NAGA | c.502+17G= (n.502+17G=)
| |
22 | g.42067096C>T | CA10263798 | NAGA | c.502+17G>A (n.502+17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067097C= | CA2406550558 | NAGA | c.502+16G= (n.502+16G=)
| |
22 | g.42067097C>T | CA10263800 | NAGA | c.502+16G>A (n.502+16G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067103C= | CA2406550559 | NAGA | c.502+10G= (n.502+10G=)
| |
22 | g.42067103C>G | CA2739267996 | NAGA | c.502+10G>C (n.502+10G>C)
| ClinVar |
22 | g.42067103C>T | CA639827815 | NAGA | c.502+10G>A (n.502+10G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067104G>A | CA10263801 | NAGA | c.502+9C>T (n.502+9C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067104G= | CA2406550560 | NAGA | c.502+9C= (n.502+9C=)
| |
22 | g.42067104G>T | CA10263802 | NAGA | c.502+9C>A (n.502+9C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067105del | CA2657022164 | NAGA | c.502+8del (n.502+8del)
| gnomAD v4 |
22 | g.42067105T>A | CA10263803 | NAGA | c.502+8A>T (n.502+8A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067105T= | CA2406550561 | NAGA | c.502+8A= (n.502+8A=)
| |
22 | g.42067105dup | CA2740091985 | NAGA | c.502+8dup (n.502+8dup)
| ClinVar |
22 | g.42067106A>G | CA2657022165 | NAGA | c.502+7T>C (n.502+7T>C)
| ClinVar gnomAD v4 |
22 | g.42067107A= | CA2406550562 | NAGA | c.502+6T= (n.502+6T=)
| |
22 | g.42067107A>C | CA2406550563 | NAGA | c.502+6T>G (n.502+6T>G)
| dbSNP |
22 | g.42067107A>G | CA2657022166 | NAGA | c.502+6T>C (n.502+6T>C)
| gnomAD v4 |
22 | g.42067110C>A | CA2657022167 | NAGA | c.502+3G>T (n.502+3G>T)
| gnomAD v4 |
22 | g.42067110C= | CA2406550564 | NAGA | c.502+3G= (n.502+3G=)
| |
22 | g.42067110C>G | CA2543013975 | NAGA | c.502+3G>C (n.502+3G>C)
| |
22 | g.42067110C>T | CA10263804 | NAGA | c.502+3G>A (n.502+3G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067111A= | CA2406550565 | NAGA | c.502+2T= (n.502+2T=)
| |
22 | g.42067111A>C | CA411768626 | NAGA | c.502+2T>G (n.502+2T>G)
| dbSNP |
22 | g.42067111A>G | CA411768627 | NAGA | c.502+2T>C (n.502+2T>C)
| |
22 | g.42067111A>T | CA411768628 | NAGA | c.502+2T>A (n.502+2T>A)
| |
22 | g.42067112C>A | CA411768629 | NAGA | c.502+1G>T (n.502+1G>T)
| |
22 | g.42067112C>G | CA411768630 | NAGA | c.502+1G>C (n.502+1G>C)
| |
22 | g.42067112C>T | CA411768631 | NAGA | c.502+1G>A (n.502+1G>A)
| |
22 | g.42067113C>A | CA411768632 | NAGA | c.502G>T (p.Gly168Trp)
| gnomAD v4 |
22 | g.42067113C>G | CA411768634 | NAGA | c.502G>C (p.Gly168Arg)
| |
22 | g.42067113C>T | CA411768633 | NAGA | c.502G>A (p.Gly168Arg)
| gnomAD v4 |
22 | g.42067114C>A | CA411768635 | NAGA | c.501G>T (p.Gln167His)
| |
22 | g.42067114C>G | CA411768636 | NAGA | c.501G>C (p.Gln167His)
| gnomAD v4 |
22 | g.42067114C>T | CA514677964 | NAGA | c.501G>A (p.Gln167=)
| gnomAD v4 |
22 | g.42067115T>A | CA411768637 | NAGA | c.500A>T (p.Gln167Leu)
| |
22 | g.42067115T>C | CA411768638 | NAGA | c.500A>G (p.Gln167Arg)
| |
22 | g.42067115T>G | CA411768639 | NAGA | c.500A>C (p.Gln167Pro)
| |
22 | g.42067116G>A | CA411768640 | NAGA | c.499C>T (p.Gln167Ter)
| |
22 | g.42067116G>C | CA411768641 | NAGA | c.499C>G (p.Gln167Glu)
| |
22 | g.42067116G>T | CA411768642 | NAGA | c.499C>A (p.Gln167Lys)
| |
22 | g.42067117G>A | CA514677967 | NAGA | c.498C>T (p.Ala166=)
| ClinVar gnomAD v4 |
22 | g.42067117G>C | CA514677966 | NAGA | c.498C>G (p.Ala166=)
| |
22 | g.42067117G= | CA2406550566 | NAGA | c.498C= (p.Ala166=)
| |
22 | g.42067117G>T | CA514677965 | NAGA | c.498C>A (p.Ala166=)
| |
22 | g.42067118G>A | CA411768643 | NAGA | c.497C>T (p.Ala166Val)
| gnomAD v4 |
22 | g.42067118G>C | CA411768644 | NAGA | c.497C>G (p.Ala166Gly)
| |
22 | g.42067118G= | CA2406550568 | NAGA | c.497C= (p.Ala166=)
| |
22 | g.42067118G>T | CA10263805 | NAGA | c.497C>A (p.Ala166Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067120_42067123dup | CA2406550567 | NAGA | c.494_497dup (p.Gln167GlyfsTer28)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42067119C>A | CA411768647 | NAGA | c.496G>T (p.Ala166Ser)
| gnomAD v4 |
22 | g.42067119C>G | CA411768646 | NAGA | c.496G>C (p.Ala166Pro)
| |
22 | g.42067119C>T | CA411768645 | NAGA | c.496G>A (p.Ala166Thr)
| gnomAD v4 |
22 | g.42067120C>A | CA514677970 | NAGA | c.495G>T (p.Arg165=)
| |
22 | g.42067120C>G | CA514677969 | NAGA | c.495G>C (p.Arg165=)
| |
22 | g.42067120C>T | CA514677968 | NAGA | c.495G>A (p.Arg165=)
| |
22 | g.42067121C>A | CA411768648 | NAGA | c.494G>T (p.Arg165Leu)
| dbSNP gnomAD v4 |
22 | g.42067121C= | CA2406550569 | NAGA | c.494G= (p.Arg165=)
| |
22 | g.42067121C>G | CA411768649 | NAGA | c.494G>C (p.Arg165Pro)
| |
22 | g.42067121C>T | CA10263806 | NAGA | c.494G>A (p.Arg165Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42067122G>A | CA10263807 | NAGA | c.493C>T (p.Arg165Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067122G>C | CA411768650 | NAGA | c.493C>G (p.Arg165Gly)
| |
22 | g.42067122G= | CA2406550570 | NAGA | c.493C= (p.Arg165=)
| |
22 | g.42067122G>T | CA514677971 | NAGA | c.493C>A (p.Arg165=)
| |
22 | g.42067123del | CA2657022168 | NAGA | c.492del (p.Glu164AspfsTer13)
| gnomAD v4 |
22 | g.42067123C>A | CA411768651 | NAGA | c.492G>T (p.Glu164Asp)
| |
22 | g.42067123C>G | CA411768652 | NAGA | c.492G>C (p.Glu164Asp)
| |
22 | g.42067123C>T | CA514677972 | NAGA | c.492G>A (p.Glu164=)
| |
22 | g.42067124T>A | CA411768653 | NAGA | c.491A>T (p.Glu164Val)
| |
22 | g.42067124T>C | CA411768654 | NAGA | c.491A>G (p.Glu164Gly)
| gnomAD v4 |
22 | g.42067124T>G | CA324656416 | NAGA | c.491A>C (p.Glu164Ala)
| ClinVar dbSNP |
22 | g.42067124T= | CA2406550571 | NAGA | c.491A= (p.Glu164=)
| |
22 | g.42067125C>A | CA411768655 | NAGA | c.490G>T (p.Glu164Ter)
| |
22 | g.42067125C= | CA2406550572 | NAGA | c.490G= (p.Glu164=)
| |
22 | g.42067125C>G | CA411768656 | NAGA | c.490G>C (p.Glu164Gln)
| dbSNP gnomAD v4 |
22 | g.42067125C>T | CA411768657 | NAGA | c.490G>A (p.Glu164Lys)
| gnomAD v4 |
22 | g.42067126C>A | CA411768659 | NAGA | c.489G>T (p.Glu163Asp)
| |
22 | g.42067126C>G | CA411768658 | NAGA | c.489G>C (p.Glu163Asp)
| gnomAD v4 |
22 | g.42067126C>T | CA514677974 | NAGA | c.489G>A (p.Glu163=)
| |
22 | g.42067127T>A | CA411768660 | NAGA | c.488A>T (p.Glu163Val)
| |
22 | g.42067127T>C | CA411768661 | NAGA | c.488A>G (p.Glu163Gly)
| |
22 | g.42067127T>G | CA411768662 | NAGA | c.488A>C (p.Glu163Ala)
| |
22 | g.42067128C>A | CA411768663 | NAGA | c.487G>T (p.Glu163Ter)
| |
22 | g.42067128C= | CA2406550573 | NAGA | c.487G= (p.Glu163=)
| |
22 | g.42067128C>G | CA411768664 | NAGA | c.487G>C (p.Glu163Gln)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42067128C>T | CA10263808 | NAGA | c.487G>A (p.Glu163Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42067129G>A | CA10263811 | NAGA | c.486C>T (p.Pro162=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067129G>C | CA10263809 | NAGA | c.486C>G (p.Pro162=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067129G= | CA2406550575 | NAGA | c.486C= (p.Pro162=)
| |
22 | g.42067129G>T | CA514677976 | NAGA | c.486C>A (p.Pro162=)
| |
22 | g.42067133del | CA645611819 | NAGA | c.486del (p.Glu163ArgfsTer14)
| COSMIC |
22 | g.42067129_42067134delinsGGGGGT | CA2406550574 | NAGA | c.481_486delinsACCCCC (p.Thr161=)
| |
22 | g.42067130G>A | CA411768666 | NAGA | c.485C>T (p.Pro162Leu)
| dbSNP gnomAD v2 |
22 | g.42067130G>C | CA411768665 | NAGA | c.485C>G (p.Pro162Arg)
| gnomAD v4 |
22 | g.42067130G= | CA2406550576 | NAGA | c.485C= (p.Pro162=)
| |
22 | g.42067130G>T | CA10263812 | NAGA | c.485C>A (p.Pro162His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067132_42067136del | CA10263810 | NAGA | c.481_485del (p.Thr161ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067131G>A | CA411768667 | NAGA | c.484C>T (p.Pro162Ser)
| COSMIC |
22 | g.42067131G>C | CA411768668 | NAGA | c.484C>G (p.Pro162Ala)
| |
22 | g.42067131G>T | CA411768669 | NAGA | c.484C>A (p.Pro162Thr)
| |
22 | g.42067132G>A | CA514677979 | NAGA | c.483C>T (p.Thr161=)
| |
22 | g.42067132G>C | CA514677978 | NAGA | c.483C>G (p.Thr161=)
| |
22 | g.42067132G= | CA2406550577 | NAGA | c.483C= (p.Thr161=)
| |
22 | g.42067132G>T | CA10263813 | NAGA | c.483C>A (p.Thr161=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42067133G>A | CA10263814 | NAGA | c.482C>T (p.Thr161Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067133G>C | CA411768671 | NAGA | c.482C>G (p.Thr161Ser)
| |
22 | g.42067133G= | CA2406550578 | NAGA | c.482C= (p.Thr161=)
| |
22 | g.42067133G>T | CA411768670 | NAGA | c.482C>A (p.Thr161Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067134T>A | CA411768672 | NAGA | c.481A>T (p.Thr161Ser)
| |
22 | g.42067134T>C | CA411768673 | NAGA | c.481A>G (p.Thr161Ala)
| |
22 | g.42067134T>G | CA411768674 | NAGA | c.481A>C (p.Thr161Pro)
| |
22 | g.42067135G>A | CA514677982 | NAGA | c.480C>T (p.Ser160=)
| ClinVar |
22 | g.42067135G>C | CA514677981 | NAGA | c.480C>G (p.Ser160=)
| |
22 | g.42067135G>T | CA514677980 | NAGA | c.480C>A (p.Ser160=)
| |
22 | g.42067136G>A | CA411768675 | NAGA | c.479C>T (p.Ser160Phe)
| gnomAD v4 COSMIC |
22 | g.42067136G>C | CA127852 | NAGA | c.479C>G (p.Ser160Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067136G= | CA2406550579 | NAGA | c.479C= (p.Ser160=)
| |
22 | g.42067136G>T | CA411768676 | NAGA | c.479C>A (p.Ser160Tyr)
| |
22 | g.42067137A>C | CA411768677 | NAGA | c.478T>G (p.Ser160Ala)
| |
22 | g.42067137A>G | CA411768678 | NAGA | c.478T>C (p.Ser160Pro)
| |
22 | g.42067137A>T | CA411768679 | NAGA | c.478T>A (p.Ser160Thr)
| |
22 | g.42067138G>A | CA10263815 | NAGA | c.477C>T (p.Phe159=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42067138G>C | CA411768680 | NAGA | c.477C>G (p.Phe159Leu)
| |
22 | g.42067138G= | CA2406550580 | NAGA | c.477C= (p.Phe159=)
| |
22 | g.42067138G>T | CA411768681 | NAGA | c.477C>A (p.Phe159Leu)
| COSMIC |