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 |
|---|---|---|---|---|---|
| 20 | g.34268994G>A | CA408647795 | AHCY,ASIP | c.226G>A (p.Glu76Lys) c.238G>A (p.Glu80Lys) c.*7+12033C>T (n.*7+12033C>T) | |
| 20 | g.34268994G>C | CA408647797 | AHCY,ASIP | c.226G>C (p.Glu76Gln) c.238G>C (p.Glu80Gln) c.*7+12033C>G (n.*7+12033C>G) | |
| 20 | g.34268994G>T | CA408647799 | AHCY,ASIP | c.226G>T (p.Glu76Ter) c.238G>T (p.Glu80Ter) c.*7+12033C>A (n.*7+12033C>A) | |
| 20 | g.34268995A= | CA2361127685 | AHCY,ASIP | c.227A= (p.Glu76=) c.239A= (p.Glu80=) c.*7+12032T= (n.*7+12032T=) | |
| 20 | g.34268995A>C | CA408647802 | AHCY,ASIP | c.227A>C (p.Glu76Ala) c.239A>C (p.Glu80Ala) c.*7+12032T>G (n.*7+12032T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34268995A>G | CA408647804 | AHCY,ASIP | c.227A>G (p.Glu76Gly) c.239A>G (p.Glu80Gly) c.*7+12032T>C (n.*7+12032T>C) | gnomAD v4 |
| 20 | g.34268995A>T | CA408647803 | AHCY,ASIP | c.227A>T (p.Glu76Val) c.239A>T (p.Glu80Val) c.*7+12032T>A (n.*7+12032T>A) | |
| 20 | g.34268996G>A | CA510271131 | AHCY,ASIP | c.228G>A (p.Glu76=) c.240G>A (p.Glu80=) c.*7+12031C>T (n.*7+12031C>T) | |
| 20 | g.34268996G>C | CA408647805 | AHCY,ASIP | c.228G>C (p.Glu76Asp) c.240G>C (p.Glu80Asp) c.*7+12031C>G (n.*7+12031C>G) | |
| 20 | g.34268996G>T | CA408647807 | AHCY,ASIP | c.228G>T (p.Glu76Asp) c.240G>T (p.Glu80Asp) c.*7+12031C>A (n.*7+12031C>A) | |
| 20 | g.34268997G>A | CA408647818 | AHCY,ASIP | c.229G>A (p.Ala77Thr) c.241G>A (p.Ala81Thr) c.*7+12030C>T (n.*7+12030C>T) | gnomAD v4 |
| 20 | g.34268997G>C | CA408647840 | AHCY,ASIP | c.229G>C (p.Ala77Pro) c.241G>C (p.Ala81Pro) c.*7+12030C>G (n.*7+12030C>G) | |
| 20 | g.34268997G>T | CA408647849 | AHCY,ASIP | c.229G>T (p.Ala77Ser) c.241G>T (p.Ala81Ser) c.*7+12030C>A (n.*7+12030C>A) | |
| 20 | g.34268998C>A | CA9820686 | AHCY,ASIP | c.230C>A (p.Ala77Asp) c.242C>A (p.Ala81Asp) c.*7+12029G>T (n.*7+12029G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34268998C= | CA2361127686 | AHCY,ASIP | c.230C= (p.Ala77=) c.242C= (p.Ala81=) c.*7+12029G= (n.*7+12029G=) | |
| 20 | g.34268998C>G | CA408647854 | AHCY,ASIP | c.230C>G (p.Ala77Gly) c.242C>G (p.Ala81Gly) c.*7+12029G>C (n.*7+12029G>C) | |
| 20 | g.34268998C>T | CA408647856 | AHCY,ASIP | c.230C>T (p.Ala77Val) c.242C>T (p.Ala81Val) c.*7+12029G>A (n.*7+12029G>A) | dbSNP gnomAD v4 |
| 20 | g.34268999T>A | CA510271132 | AHCY,ASIP | c.231T>A (p.Ala77=) c.243T>A (p.Ala81=) c.*7+12028A>T (n.*7+12028A>T) | |
| 20 | g.34268999T>C | CA510271133 | AHCY,ASIP | c.231T>C (p.Ala77=) c.243T>C (p.Ala81=) c.*7+12028A>G (n.*7+12028A>G) | |
| 20 | g.34268999T>G | CA510271134 | AHCY,ASIP | c.231T>G (p.Ala77=) c.243T>G (p.Ala81=) c.*7+12028A>C (n.*7+12028A>C) | gnomAD v4 |
| 20 | g.34269000T>A | CA408647863 | AHCY,ASIP | c.232T>A (p.Ser78Thr) c.244T>A (p.Ser82Thr) c.*7+12027A>T (n.*7+12027A>T) | |
| 20 | g.34269000T>C | CA408647865 | AHCY,ASIP | c.232T>C (p.Ser78Pro) c.244T>C (p.Ser82Pro) c.*7+12027A>G (n.*7+12027A>G) | gnomAD v4 |
| 20 | g.34269000T>G | CA408647872 | AHCY,ASIP | c.232T>G (p.Ser78Ala) c.244T>G (p.Ser82Ala) c.*7+12027A>C (n.*7+12027A>C) | |
| 20 | g.34269001C>A | CA408647883 | AHCY,ASIP | c.233C>A (p.Ser78Ter) c.245C>A (p.Ser82Ter) c.*7+12026G>T (n.*7+12026G>T) | gnomAD v4 |
| 20 | g.34269001C>G | CA408647878 | AHCY,ASIP | c.233C>G (p.Ser78Trp) c.245C>G (p.Ser82Trp) c.*7+12026G>C (n.*7+12026G>C) | |
| 20 | g.34269001C>T | CA408647875 | AHCY,ASIP | c.233C>T (p.Ser78Leu) c.245C>T (p.Ser82Leu) c.*7+12026G>A (n.*7+12026G>A) | gnomAD v4 |
| 20 | g.34269002G>A | CA510271135 | AHCY,ASIP | c.234G>A (p.Ser78=) c.246G>A (p.Ser82=) c.*7+12025C>T (n.*7+12025C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269002G>C | CA510271136 | AHCY,ASIP | c.234G>C (p.Ser78=) c.246G>C (p.Ser82=) c.*7+12025C>G (n.*7+12025C>G) | gnomAD v4 |
| 20 | g.34269002G= | CA2361127687 | AHCY,ASIP | c.234G= (p.Ser78=) c.246G= (p.Ser82=) c.*7+12025C= (n.*7+12025C=) | |
| 20 | g.34269002G>T | CA510271137 | AHCY,ASIP | c.234G>T (p.Ser78=) c.246G>T (p.Ser82=) c.*7+12025C>A (n.*7+12025C>A) | dbSNP gnomAD v4 |
| 20 | g.34269002_34269003insGAA | CA2361127688 | AHCY,ASIP | c.234_235insGAA (p.Ser78_Met79insGlu) c.246_247insGAA (p.Ser82_Met83insGlu) c.*7+12024_*7+12025insTTC (n.*7+12024_*7+12025insTTC) | dbSNP |
| 20 | g.34269003A>C | CA408647887 | AHCY,ASIP | c.235A>C (p.Met79Leu) c.247A>C (p.Met83Leu) c.*7+12024T>G (n.*7+12024T>G) | |
| 20 | g.34269003A>G | CA408647893 | AHCY,ASIP | c.235A>G (p.Met79Val) c.247A>G (p.Met83Val) c.*7+12024T>C (n.*7+12024T>C) | |
| 20 | g.34269003A>T | CA408647900 | AHCY,ASIP | c.235A>T (p.Met79Leu) c.247A>T (p.Met83Leu) c.*7+12024T>A (n.*7+12024T>A) | |
| 20 | g.34269004T>A | CA408647903 | AHCY,ASIP | c.236T>A (p.Met79Lys) c.248T>A (p.Met83Lys) c.*7+12023A>T (n.*7+12023A>T) | |
| 20 | g.34269004T>C | CA408647906 | AHCY,ASIP | c.236T>C (p.Met79Thr) c.248T>C (p.Met83Thr) c.*7+12023A>G (n.*7+12023A>G) | gnomAD v4 |
| 20 | g.34269004T>G | CA408647909 | AHCY,ASIP | c.236T>G (p.Met79Arg) c.248T>G (p.Met83Arg) c.*7+12023A>C (n.*7+12023A>C) | |
| 20 | g.34269005del | CA2652532337 | AHCY,ASIP | c.237del (p.Met79IlefsTer?) c.249del (p.Met83IlefsTer?) c.*7+12022del (n.*7+12022del) | gnomAD v4 |
| 20 | g.34269005G>A | CA408647910 | AHCY,ASIP | c.237G>A (p.Met79Ile) c.249G>A (p.Met83Ile) c.*7+12022C>T (n.*7+12022C>T) | gnomAD v4 |
| 20 | g.34269005G>C | CA408647911 | AHCY,ASIP | c.237G>C (p.Met79Ile) c.249G>C (p.Met83Ile) c.*7+12022C>G (n.*7+12022C>G) | gnomAD v4 |
| 20 | g.34269005G>T | CA408647913 | AHCY,ASIP | c.237G>T (p.Met79Ile) c.249G>T (p.Met83Ile) c.*7+12022C>A (n.*7+12022C>A) | gnomAD v4 |
| 20 | g.34269006A>C | CA408647915 | AHCY,ASIP | c.238A>C (p.Lys80Gln) c.250A>C (p.Lys84Gln) c.*7+12021T>G (n.*7+12021T>G) | |
| 20 | g.34269006A>G | CA408647918 | AHCY,ASIP | c.238A>G (p.Lys80Glu) c.250A>G (p.Lys84Glu) c.*7+12021T>C (n.*7+12021T>C) | |
| 20 | g.34269006A>T | CA408647920 | AHCY,ASIP | c.238A>T (p.Lys80Ter) c.250A>T (p.Lys84Ter) c.*7+12021T>A (n.*7+12021T>A) | |
| 20 | g.34269007A>C | CA408647925 | AHCY,ASIP | c.239A>C (p.Lys80Thr) c.251A>C (p.Lys84Thr) c.*7+12020T>G (n.*7+12020T>G) | |
| 20 | g.34269007A>G | CA408647927 | AHCY,ASIP | c.239A>G (p.Lys80Arg) c.251A>G (p.Lys84Arg) c.*7+12020T>C (n.*7+12020T>C) | |
| 20 | g.34269007A>T | CA408647924 | AHCY,ASIP | c.239A>T (p.Lys80Met) c.251A>T (p.Lys84Met) c.*7+12020T>A (n.*7+12020T>A) | |
| 20 | g.34269008G>A | CA510271141 | AHCY,ASIP | c.240G>A (p.Lys80=) c.252G>A (p.Lys84=) c.*7+12019C>T (n.*7+12019C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269008G>C | CA408647930 | AHCY,ASIP | c.240G>C (p.Lys80Asn) c.252G>C (p.Lys84Asn) c.*7+12019C>G (n.*7+12019C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269008G= | CA2361127689 | AHCY,ASIP | c.240G= (p.Lys80=) c.252G= (p.Lys84=) c.*7+12019C= (n.*7+12019C=) | |
| 20 | g.34269008G>T | CA313334504 | AHCY,ASIP | c.240G>T (p.Lys80Asn) c.252G>T (p.Lys84Asn) c.*7+12019C>A (n.*7+12019C>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.34269009A>C | CA408647937 | AHCY,ASIP | c.241A>C (p.Lys81Gln) c.253A>C (p.Lys85Gln) c.*7+12018T>G (n.*7+12018T>G) | gnomAD v4 |
| 20 | g.34269009A>G | CA408647938 | AHCY,ASIP | c.241A>G (p.Lys81Glu) c.253A>G (p.Lys85Glu) c.*7+12018T>C (n.*7+12018T>C) | |
| 20 | g.34269009A>T | CA408647939 | AHCY,ASIP | c.241A>T (p.Lys81Ter) c.253A>T (p.Lys85Ter) c.*7+12018T>A (n.*7+12018T>A) | |
| 20 | g.34269011dup | CA2652532338 | AHCY,ASIP | c.243dup (p.Val82SerfsTer?) c.255dup (p.Val86SerfsTer?) c.*7+12018dup (n.*7+12018dup) | gnomAD v4 |
| 20 | g.34269010A>C | CA408647955 | AHCY,ASIP | c.242A>C (p.Lys81Thr) c.254A>C (p.Lys85Thr) c.*7+12017T>G (n.*7+12017T>G) | |
| 20 | g.34269010A>G | CA408647942 | AHCY,ASIP | c.242A>G (p.Lys81Arg) c.254A>G (p.Lys85Arg) c.*7+12017T>C (n.*7+12017T>C) | |
| 20 | g.34269010A>T | CA408647951 | AHCY,ASIP | c.242A>T (p.Lys81Ile) c.254A>T (p.Lys85Ile) c.*7+12017T>A (n.*7+12017T>A) | |
| 20 | g.34269011A>C | CA408647959 | AHCY,ASIP | c.243A>C (p.Lys81Asn) c.255A>C (p.Lys85Asn) c.*7+12016T>G (n.*7+12016T>G) | |
| 20 | g.34269011A>G | CA510271143 | AHCY,ASIP | c.243A>G (p.Lys81=) c.255A>G (p.Lys85=) c.*7+12016T>C (n.*7+12016T>C) | |
| 20 | g.34269011A>T | CA408647965 | AHCY,ASIP | c.243A>T (p.Lys81Asn) c.255A>T (p.Lys85Asn) c.*7+12016T>A (n.*7+12016T>A) | |
| 20 | g.34269012G>A | CA408647969 | AHCY,ASIP | c.244G>A (p.Val82Met) c.256G>A (p.Val86Met) c.*7+12015C>T (n.*7+12015C>T) | gnomAD v4 |
| 20 | g.34269012G>C | CA408647971 | AHCY,ASIP | c.244G>C (p.Val82Leu) c.256G>C (p.Val86Leu) c.*7+12015C>G (n.*7+12015C>G) | |
| 20 | g.34269012G>T | CA408647974 | AHCY,ASIP | c.244G>T (p.Val82Leu) c.256G>T (p.Val86Leu) c.*7+12015C>A (n.*7+12015C>A) | |
| 20 | g.34269013T>A | CA408647987 | AHCY,ASIP | c.245T>A (p.Val82Glu) c.257T>A (p.Val86Glu) c.*7+12014A>T (n.*7+12014A>T) | gnomAD v4 |
| 20 | g.34269013T>C | CA9820687 | AHCY,ASIP | c.245T>C (p.Val82Ala) c.257T>C (p.Val86Ala) c.*7+12014A>G (n.*7+12014A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269013T>G | CA408647981 | AHCY,ASIP | c.245T>G (p.Val82Gly) c.257T>G (p.Val86Gly) c.*7+12014A>C (n.*7+12014A>C) | |
| 20 | g.34269013T= | CA2361127690 | AHCY,ASIP | c.245T= (p.Val82=) c.257T= (p.Val86=) c.*7+12014A= (n.*7+12014A=) | |
| 20 | g.34269014G>A | CA510271148 | AHCY,ASIP | c.246G>A (p.Val82=) c.258G>A (p.Val86=) c.*7+12013C>T (n.*7+12013C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269014G>C | CA510271146 | AHCY,ASIP | c.246G>C (p.Val82=) c.258G>C (p.Val86=) c.*7+12013C>G (n.*7+12013C>G) | |
| 20 | g.34269014G= | CA2361127691 | AHCY,ASIP | c.246G= (p.Val82=) c.258G= (p.Val86=) c.*7+12013C= (n.*7+12013C=) | |
| 20 | g.34269014G>T | CA510271147 | AHCY,ASIP | c.246G>T (p.Val82=) c.258G>T (p.Val86=) c.*7+12013C>A (n.*7+12013C>A) | gnomAD v4 |
| 20 | g.34269015G>A | CA408647996 | AHCY,ASIP | c.247G>A (p.Val83Met) c.259G>A (p.Val87Met) c.*7+12012C>T (n.*7+12012C>T) | gnomAD v4 |
| 20 | g.34269015G>C | CA408648008 | AHCY,ASIP | c.247G>C (p.Val83Leu) c.259G>C (p.Val87Leu) c.*7+12012C>G (n.*7+12012C>G) | gnomAD v4 |
| 20 | g.34269015G>T | CA408648006 | AHCY,ASIP | c.247G>T (p.Val83Leu) c.259G>T (p.Val87Leu) c.*7+12012C>A (n.*7+12012C>A) | gnomAD v4 |
| 20 | g.34269016_34269017del | CA2652532339 | AHCY,ASIP | c.248_249del (p.Val83AlafsTer?) c.260_261del (p.Val87AlafsTer?) c.*7+12011_*7+12012del (n.*7+12011_*7+12012del) | gnomAD v4 |
| 20 | g.34269016T>A | CA408648009 | AHCY,ASIP | c.248T>A (p.Val83Glu) c.260T>A (p.Val87Glu) c.*7+12011A>T (n.*7+12011A>T) | |
| 20 | g.34269016T>C | CA408648010 | AHCY,ASIP | c.248T>C (p.Val83Ala) c.260T>C (p.Val87Ala) c.*7+12011A>G (n.*7+12011A>G) | |
| 20 | g.34269016T>G | CA408648014 | AHCY,ASIP | c.248T>G (p.Val83Gly) c.260T>G (p.Val87Gly) c.*7+12011A>C (n.*7+12011A>C) | dbSNP |
| 20 | g.34269017G>A | CA510271149 | AHCY,ASIP | c.249G>A (p.Val83=) c.261G>A (p.Val87=) c.*7+12010C>T (n.*7+12010C>T) | gnomAD v4 |
| 20 | g.34269017G>C | CA510271151 | AHCY,ASIP | c.249G>C (p.Val83=) c.261G>C (p.Val87=) c.*7+12010C>G (n.*7+12010C>G) | |
| 20 | g.34269017G>T | CA510271150 | AHCY,ASIP | c.249G>T (p.Val83=) c.261G>T (p.Val87=) c.*7+12010C>A (n.*7+12010C>A) | |
| 20 | g.34269018C>A | CA510271152 | AHCY,ASIP | c.250C>A (p.Arg84=) c.262C>A (p.Arg88=) c.*7+12009G>T (n.*7+12009G>T) | gnomAD v4 |
| 20 | g.34269018C>G | CA408648029 | AHCY,ASIP | c.250C>G (p.Arg84Gly) c.262C>G (p.Arg88Gly) c.*7+12009G>C (n.*7+12009G>C) | |
| 20 | g.34269018C>T | CA408648031 | AHCY,ASIP | c.250C>T (p.Arg84Trp) c.262C>T (p.Arg88Trp) c.*7+12009G>A (n.*7+12009G>A) | gnomAD v4 |
| 20 | g.34269018_34269019insCCC | CA2652532340 | AHCY,ASIP | c.250_251insCCC (p.Val83_Arg84insPro) c.262_263insCCC (p.Val87_Arg88insPro) c.*7+12009_*7+12010insGGG (n.*7+12009_*7+12010insGGG) | gnomAD v4 |
| 20 | g.34269019G>A | CA408648033 | AHCY,ASIP | c.251G>A (p.Arg84Gln) c.263G>A (p.Arg88Gln) c.*7+12008C>T (n.*7+12008C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269019G>C | CA408648034 | AHCY,ASIP | c.251G>C (p.Arg84Pro) c.263G>C (p.Arg88Pro) c.*7+12008C>G (n.*7+12008C>G) | |
| 20 | g.34269019G= | CA2361127692 | AHCY,ASIP | c.251G= (p.Arg84=) c.263G= (p.Arg88=) c.*7+12008C= (n.*7+12008C=) | |
| 20 | g.34269019G>T | CA408648035 | AHCY,ASIP | c.251G>T (p.Arg84Leu) c.263G>T (p.Arg88Leu) c.*7+12008C>A (n.*7+12008C>A) | gnomAD v4 |
| 20 | g.34269020G>A | CA510271153 | AHCY,ASIP | c.252G>A (p.Arg84=) c.264G>A (p.Arg88=) c.*7+12007C>T (n.*7+12007C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269020G>C | CA510271154 | AHCY,ASIP | c.252G>C (p.Arg84=) c.264G>C (p.Arg88=) c.*7+12007C>G (n.*7+12007C>G) | |
| 20 | g.34269020G= | CA2361127693 | AHCY,ASIP | c.252G= (p.Arg84=) c.264G= (p.Arg88=) c.*7+12007C= (n.*7+12007C=) | |
| 20 | g.34269020G>T | CA510271155 | AHCY,ASIP | c.252G>T (p.Arg84=) c.264G>T (p.Arg88=) c.*7+12007C>A (n.*7+12007C>A) | gnomAD v4 |
| 20 | g.34269021C>A | CA408648036 | AHCY,ASIP | c.253C>A (p.Pro85Thr) c.265C>A (p.Pro89Thr) c.*7+12006G>T (n.*7+12006G>T) | gnomAD v4 |
| 20 | g.34269021C= | CA2361127694 | AHCY,ASIP | c.253C= (p.Pro85=) c.265C= (p.Pro89=) c.*7+12006G= (n.*7+12006G=) | |
| 20 | g.34269021C>G | CA9820688 | AHCY,ASIP | c.253C>G (p.Pro85Ala) c.265C>G (p.Pro89Ala) c.*7+12006G>C (n.*7+12006G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269021C>T | CA408648037 | AHCY,ASIP | c.253C>T (p.Pro85Ser) c.265C>T (p.Pro89Ser) c.*7+12006G>A (n.*7+12006G>A) | gnomAD v4 |
| 20 | g.34269024del | CA2577375040 | AHCY,ASIP | c.256del (p.Arg86GlyfsTer?) c.268del (p.Arg90GlyfsTer?) c.*7+12006del (n.*7+12006del) | gnomAD v4 |
| 20 | g.34269022C>A | CA408648039 | AHCY,ASIP | c.254C>A (p.Pro85His) c.266C>A (p.Pro89His) c.*7+12005G>T (n.*7+12005G>T) | |
| 20 | g.34269022C= | CA2361127695 | AHCY,ASIP | c.254C= (p.Pro85=) c.266C= (p.Pro89=) c.*7+12005G= (n.*7+12005G=) | |
| 20 | g.34269022C>G | CA9820689 | AHCY,ASIP | c.254C>G (p.Pro85Arg) c.266C>G (p.Pro89Arg) c.*7+12005G>C (n.*7+12005G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269022C>T | CA408648044 | AHCY,ASIP | c.254C>T (p.Pro85Leu) c.266C>T (p.Pro89Leu) c.*7+12005G>A (n.*7+12005G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269023C>A | CA510271156 | AHCY,ASIP | c.255C>A (p.Pro85=) c.267C>A (p.Pro89=) c.*7+12004G>T (n.*7+12004G>T) | dbSNP gnomAD v4 |
| 20 | g.34269023C= | CA2361127696 | AHCY,ASIP | c.255C= (p.Pro85=) c.267C= (p.Pro89=) c.*7+12004G= (n.*7+12004G=) | |
| 20 | g.34269023C>G | CA510271157 | AHCY,ASIP | c.255C>G (p.Pro85=) c.267C>G (p.Pro89=) c.*7+12004G>C (n.*7+12004G>C) | |
| 20 | g.34269023C>T | CA510271158 | AHCY,ASIP | c.255C>T (p.Pro85=) c.267C>T (p.Pro89=) c.*7+12004G>A (n.*7+12004G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269024C>A | CA510271159 | AHCY,ASIP | c.256C>A (p.Arg86=) c.268C>A (p.Arg90=) c.*7+12003G>T (n.*7+12003G>T) | gnomAD v4 COSMIC |
| 20 | g.34269024C>G | CA408648052 | AHCY,ASIP | c.256C>G (p.Arg86Gly) c.268C>G (p.Arg90Gly) c.*7+12003G>C (n.*7+12003G>C) | gnomAD v4 |
| 20 | g.34269024C>T | CA408648048 | AHCY,ASIP | c.256C>T (p.Arg86Trp) c.268C>T (p.Arg90Trp) c.*7+12003G>A (n.*7+12003G>A) | gnomAD v4 |
| 20 | g.34269025G>A | CA408648056 | AHCY,ASIP | c.257G>A (p.Arg86Gln) c.269G>A (p.Arg90Gln) c.*7+12002C>T (n.*7+12002C>T) | gnomAD v4 |
| 20 | g.34269025G>C | CA408648058 | AHCY,ASIP | c.257G>C (p.Arg86Pro) c.269G>C (p.Arg90Pro) c.*7+12002C>G (n.*7+12002C>G) | |
| 20 | g.34269025G>T | CA408648060 | AHCY,ASIP | c.257G>T (p.Arg86Leu) c.269G>T (p.Arg90Leu) c.*7+12002C>A (n.*7+12002C>A) | |
| 20 | g.34269026G>A | CA510271160 | AHCY,ASIP | c.258G>A (p.Arg86=) c.270G>A (p.Arg90=) c.*7+12001C>T (n.*7+12001C>T) | dbSNP gnomAD v2 |
| 20 | g.34269026G>C | CA510271161 | AHCY,ASIP | c.258G>C (p.Arg86=) c.270G>C (p.Arg90=) c.*7+12001C>G (n.*7+12001C>G) | |
| 20 | g.34269026G= | CA2361127697 | AHCY,ASIP | c.258G= (p.Arg86=) c.270G= (p.Arg90=) c.*7+12001C= (n.*7+12001C=) | |
| 20 | g.34269026G>T | CA510271162 | AHCY,ASIP | c.258G>T (p.Arg86=) c.270G>T (p.Arg90=) c.*7+12001C>A (n.*7+12001C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269027A= | CA2361127699 | AHCY,ASIP | c.259A= (p.Thr87=) c.271A= (p.Thr91=) c.*7+12000T= (n.*7+12000T=) | |
| 20 | g.34269027A>C | CA408648067 | AHCY,ASIP | c.259A>C (p.Thr87Pro) c.271A>C (p.Thr91Pro) c.*7+12000T>G (n.*7+12000T>G) | dbSNP gnomAD v4 COSMIC |
| 20 | g.34269027A>G | CA408648070 | AHCY,ASIP | c.259A>G (p.Thr87Ala) c.271A>G (p.Thr91Ala) c.*7+12000T>C (n.*7+12000T>C) | gnomAD v4 |
| 20 | g.34269027A>T | CA408648100 | AHCY,ASIP | c.259A>T (p.Thr87Ser) c.271A>T (p.Thr91Ser) c.*7+12000T>A (n.*7+12000T>A) | |
| 20 | g.34269027_34269028delinsAC | CA2361127698 | AHCY,ASIP | c.259_260delinsAC (p.Thr87=) c.271_272delinsAC (p.Thr91=) c.*7+11999_*7+12000delinsGT (n.*7+11999_*7+12000delinsGT) | |
| 20 | g.34269028C>A | CA9820692 | AHCY,ASIP | c.260C>A (p.Thr87Asn) c.272C>A (p.Thr91Asn) c.*7+11999G>T (n.*7+11999G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269028C= | CA2361127700 | AHCY,ASIP | c.260C= (p.Thr87=) c.272C= (p.Thr91=) c.*7+11999G= (n.*7+11999G=) | |
| 20 | g.34269028C>G | CA408648116 | AHCY,ASIP | c.260C>G (p.Thr87Ser) c.272C>G (p.Thr91Ser) c.*7+11999G>C (n.*7+11999G>C) | gnomAD v4 |
| 20 | g.34269028C>T | CA9820691 | AHCY,ASIP | c.260C>T (p.Thr87Ile) c.272C>T (p.Thr91Ile) c.*7+11999G>A (n.*7+11999G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269033dup | CA1017103621 | AHCY,ASIP | c.265dup (p.Leu89ProfsTer?) c.277dup (p.Leu93ProfsTer?) c.*7+11999dup (n.*7+11999dup) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269033del | CA9820690 | AHCY,ASIP | c.265del (p.Leu89TyrfsTer?) c.277del (p.Leu93TyrfsTer?) c.*7+11999del (n.*7+11999del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269029C>A | CA510271163 | AHCY,ASIP | c.261C>A (p.Thr87=) c.273C>A (p.Thr91=) c.*7+11998G>T (n.*7+11998G>T) | |
| 20 | g.34269029C= | CA2361127701 | AHCY,ASIP | c.261C= (p.Thr87=) c.273C= (p.Thr91=) c.*7+11998G= (n.*7+11998G=) | |
| 20 | g.34269029C>G | CA510271164 | AHCY,ASIP | c.261C>G (p.Thr87=) c.273C>G (p.Thr91=) c.*7+11998G>C (n.*7+11998G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269029C>T | CA510271165 | AHCY,ASIP | c.261C>T (p.Thr87=) c.273C>T (p.Thr91=) c.*7+11998G>A (n.*7+11998G>A) | COSMIC |
| 20 | g.34269030C>A | CA408648124 | AHCY,ASIP | c.262C>A (p.Pro88Thr) c.274C>A (p.Pro92Thr) c.*7+11997G>T (n.*7+11997G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269030C= | CA2361127702 | AHCY,ASIP | c.262C= (p.Pro88=) c.274C= (p.Pro92=) c.*7+11997G= (n.*7+11997G=) | |
| 20 | g.34269030C>G | CA9820694 | AHCY,ASIP | c.262C>G (p.Pro88Ala) c.274C>G (p.Pro92Ala) c.*7+11997G>C (n.*7+11997G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269030C>T | CA9820693 | AHCY,ASIP | c.262C>T (p.Pro88Ser) c.274C>T (p.Pro92Ser) c.*7+11997G>A (n.*7+11997G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.34269031C>A | CA408648135 | AHCY,ASIP | c.263C>A (p.Pro88His) c.275C>A (p.Pro92His) c.*7+11996G>T (n.*7+11996G>T) | dbSNP gnomAD v4 |
| 20 | g.34269031C= | CA2361127703 | AHCY,ASIP | c.263C= (p.Pro88=) c.275C= (p.Pro92=) c.*7+11996G= (n.*7+11996G=) | |
| 20 | g.34269031C>G | CA408648140 | AHCY,ASIP | c.263C>G (p.Pro88Arg) c.275C>G (p.Pro92Arg) c.*7+11996G>C (n.*7+11996G>C) | |
| 20 | g.34269031C>T | CA408648137 | AHCY,ASIP | c.263C>T (p.Pro88Leu) c.275C>T (p.Pro92Leu) c.*7+11996G>A (n.*7+11996G>A) | |
| 20 | g.34269032C>A | CA9820695 | AHCY,ASIP | c.264C>A (p.Pro88=) c.276C>A (p.Pro92=) c.*7+11995G>T (n.*7+11995G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269032C= | CA2361127704 | AHCY,ASIP | c.264C= (p.Pro88=) c.276C= (p.Pro92=) c.*7+11995G= (n.*7+11995G=) | |
| 20 | g.34269032C>G | CA9820696 | AHCY,ASIP | c.264C>G (p.Pro88=) c.276C>G (p.Pro92=) c.*7+11995G>C (n.*7+11995G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269032C>T | CA9820697 | AHCY,ASIP | c.264C>T (p.Pro88=) c.276C>T (p.Pro92=) c.*7+11995G>A (n.*7+11995G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269033C>A | CA9820698 | AHCY,ASIP | c.265C>A (p.Leu89Ile) c.277C>A (p.Leu93Ile) c.*7+11994G>T (n.*7+11994G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.34269033C= | CA2361127706 | AHCY,ASIP | c.265C= (p.Leu89=) c.277C= (p.Leu93=) c.*7+11994G= (n.*7+11994G=) | |
| 20 | g.34269033C>G | CA408648153 | AHCY,ASIP | c.265C>G (p.Leu89Val) c.277C>G (p.Leu93Val) c.*7+11994G>C (n.*7+11994G>C) | dbSNP |
| 20 | g.34269033C>T | CA510271166 | AHCY,ASIP | c.265C>T (p.Leu89=) c.277C>T (p.Leu93=) c.*7+11994G>A (n.*7+11994G>A) | |
| 20 | g.34269033_34269034delinsCT | CA2361127705 | AHCY,ASIP | c.265_266delinsCT (p.Leu89=) c.277_278delinsCT (p.Leu93=) c.*7+11993_*7+11994delinsAG (n.*7+11993_*7+11994delinsAG) | |
| 20 | g.34269034del | CA743840521 | AHCY,ASIP | c.266del (p.Leu89HisfsTer?) c.278del (p.Leu93HisfsTer?) c.*7+11993del (n.*7+11993del) | dbSNP gnomAD v4 |
| 20 | g.34269034T>A | CA408648158 | AHCY,ASIP | c.266T>A (p.Leu89Gln) c.278T>A (p.Leu93Gln) c.*7+11993A>T (n.*7+11993A>T) | |
| 20 | g.34269034T>C | CA408648159 | AHCY,ASIP | c.266T>C (p.Leu89Pro) c.278T>C (p.Leu93Pro) c.*7+11993A>G (n.*7+11993A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269034T>G | CA408648160 | AHCY,ASIP | c.266T>G (p.Leu89Arg) c.278T>G (p.Leu93Arg) c.*7+11993A>C (n.*7+11993A>C) | dbSNP gnomAD v4 |
| 20 | g.34269034T= | CA2361127707 | AHCY,ASIP | c.266T= (p.Leu89=) c.278T= (p.Leu93=) c.*7+11993A= (n.*7+11993A=) | |
| 20 | g.34269035A= | CA2361127708 | AHCY,ASIP | c.267A= (p.Leu89=) c.279A= (p.Leu93=) c.*7+11992T= (n.*7+11992T=) | |
| 20 | g.34269035A>C | CA510271167 | AHCY,ASIP | c.267A>C (p.Leu89=) c.279A>C (p.Leu93=) c.*7+11992T>G (n.*7+11992T>G) | |
| 20 | g.34269035A>G | CA510271169 | AHCY,ASIP | c.267A>G (p.Leu89=) c.279A>G (p.Leu93=) c.*7+11992T>C (n.*7+11992T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269035A>T | CA510271168 | AHCY,ASIP | c.267A>T (p.Leu89=) c.279A>T (p.Leu93=) c.*7+11992T>A (n.*7+11992T>A) | |
| 20 | g.34269036T>A | CA408648161 | AHCY,ASIP | c.268T>A (p.Ser90Thr) c.280T>A (p.Ser94Thr) c.*7+11991A>T (n.*7+11991A>T) | gnomAD v4 |
| 20 | g.34269036T>C | CA408648164 | AHCY,ASIP | c.268T>C (p.Ser90Pro) c.280T>C (p.Ser94Pro) c.*7+11991A>G (n.*7+11991A>G) | |
| 20 | g.34269036T>G | CA408648166 | AHCY,ASIP | c.268T>G (p.Ser90Ala) c.280T>G (p.Ser94Ala) c.*7+11991A>C (n.*7+11991A>C) | |
| 20 | g.34269037C>A | CA408648170 | AHCY,ASIP | c.269C>A (p.Ser90Tyr) c.281C>A (p.Ser94Tyr) c.*7+11990G>T (n.*7+11990G>T) | |
| 20 | g.34269037C= | CA2361127709 | AHCY,ASIP | c.269C= (p.Ser90=) c.281C= (p.Ser94=) c.*7+11990G= (n.*7+11990G=) | |
| 20 | g.34269037C>G | CA408648168 | AHCY,ASIP | c.269C>G (p.Ser90Cys) c.281C>G (p.Ser94Cys) c.*7+11990G>C (n.*7+11990G>C) | |
| 20 | g.34269037C>T | CA9820699 | AHCY,ASIP | c.269C>T (p.Ser90Phe) c.281C>T (p.Ser94Phe) c.*7+11990G>A (n.*7+11990G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269038T>A | CA510271170 | AHCY,ASIP | c.270T>A (p.Ser90=) c.282T>A (p.Ser94=) c.*7+11989A>T (n.*7+11989A>T) | |
| 20 | g.34269038T>C | CA510271171 | AHCY,ASIP | c.270T>C (p.Ser90=) c.282T>C (p.Ser94=) c.*7+11989A>G (n.*7+11989A>G) | gnomAD v4 |
| 20 | g.34269038T>G | CA510271172 | AHCY,ASIP | c.270T>G (p.Ser90=) c.282T>G (p.Ser94=) c.*7+11989A>C (n.*7+11989A>C) | |
| 20 | g.34269039G>A | CA408648173 | AHCY,ASIP | c.271G>A (p.Ala91Thr) c.283G>A (p.Ala95Thr) c.*7+11988C>T (n.*7+11988C>T) | |
| 20 | g.34269039G>C | CA408648174 | AHCY,ASIP | c.271G>C (p.Ala91Pro) c.283G>C (p.Ala95Pro) c.*7+11988C>G (n.*7+11988C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269039G= | CA2361127710 | AHCY,ASIP | c.271G= (p.Ala91=) c.283G= (p.Ala95=) c.*7+11988C= (n.*7+11988C=) | |
| 20 | g.34269039G>T | CA408648175 | AHCY,ASIP | c.271G>T (p.Ala91Ser) c.283G>T (p.Ala95Ser) c.*7+11988C>A (n.*7+11988C>A) | gnomAD v4 |
| 20 | g.34269040C>A | CA408648178 | AHCY,ASIP | c.272C>A (p.Ala91Glu) c.284C>A (p.Ala95Glu) c.*7+11987G>T (n.*7+11987G>T) | gnomAD v4 |
| 20 | g.34269040C>G | CA408648180 | AHCY,ASIP | c.272C>G (p.Ala91Gly) c.284C>G (p.Ala95Gly) c.*7+11987G>C (n.*7+11987G>C) | |
| 20 | g.34269040C>T | CA408648184 | AHCY,ASIP | c.272C>T (p.Ala91Val) c.284C>T (p.Ala95Val) c.*7+11987G>A (n.*7+11987G>A) | gnomAD v4 |
| 20 | g.34269041G>A | CA510271173 | AHCY,ASIP | c.273G>A (p.Ala91=) c.285G>A (p.Ala95=) c.*7+11986C>T (n.*7+11986C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269041G>C | CA510271174 | AHCY,ASIP | c.273G>C (p.Ala91=) c.285G>C (p.Ala95=) c.*7+11986C>G (n.*7+11986C>G) | |
| 20 | g.34269041G= | CA2361127711 | AHCY,ASIP | c.273G= (p.Ala91=) c.285G= (p.Ala95=) c.*7+11986C= (n.*7+11986C=) | |
| 20 | g.34269041G>T | CA510271175 | AHCY,ASIP | c.273G>T (p.Ala91=) c.285G>T (p.Ala95=) c.*7+11986C>A (n.*7+11986C>A) | gnomAD v4 |
| 20 | g.34269042C>A | CA408648190 | AHCY,ASIP | c.274C>A (p.Pro92Thr) c.286C>A (p.Pro96Thr) c.*7+11985G>T (n.*7+11985G>T) | |
| 20 | g.34269042C>G | CA408648191 | AHCY,ASIP | c.274C>G (p.Pro92Ala) c.286C>G (p.Pro96Ala) c.*7+11985G>C (n.*7+11985G>C) | |
| 20 | g.34269042C>T | CA408648192 | AHCY,ASIP | c.274C>T (p.Pro92Ser) c.286C>T (p.Pro96Ser) c.*7+11985G>A (n.*7+11985G>A) | |
| 20 | g.34269043C>A | CA408648196 | AHCY,ASIP | c.275C>A (p.Pro92His) c.287C>A (p.Pro96His) c.*7+11984G>T (n.*7+11984G>T) | gnomAD v4 |
| 20 | g.34269043C>G | CA408648197 | AHCY,ASIP | c.275C>G (p.Pro92Arg) c.287C>G (p.Pro96Arg) c.*7+11984G>C (n.*7+11984G>C) | |
| 20 | g.34269043C>T | CA408648200 | AHCY,ASIP | c.275C>T (p.Pro92Leu) c.287C>T (p.Pro96Leu) c.*7+11984G>A (n.*7+11984G>A) | gnomAD v4 |
| 20 | g.34269044C>A | CA510271178 | AHCY,ASIP | c.276C>A (p.Pro92=) c.288C>A (p.Pro96=) c.*7+11983G>T (n.*7+11983G>T) | gnomAD v4 |
| 20 | g.34269044C= | CA2361127712 | AHCY,ASIP | c.276C= (p.Pro92=) c.288C= (p.Pro96=) c.*7+11983G= (n.*7+11983G=) | |
| 20 | g.34269044C>G | CA510271177 | AHCY,ASIP | c.276C>G (p.Pro92=) c.288C>G (p.Pro96=) c.*7+11983G>C (n.*7+11983G>C) | |
| 20 | g.34269044C>T | CA510271176 | AHCY,ASIP | c.276C>T (p.Pro92=) c.288C>T (p.Pro96=) c.*7+11983G>A (n.*7+11983G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269045T>A | CA408648208 | AHCY,ASIP | c.277T>A (p.Cys93Ser) c.289T>A (p.Cys97Ser) c.*7+11982A>T (n.*7+11982A>T) | gnomAD v4 |
| 20 | g.34269045T>C | CA408648207 | AHCY,ASIP | c.277T>C (p.Cys93Arg) c.289T>C (p.Cys97Arg) c.*7+11982A>G (n.*7+11982A>G) | gnomAD v4 |
| 20 | g.34269045T>G | CA408648204 | AHCY,ASIP | c.277T>G (p.Cys93Gly) c.289T>G (p.Cys97Gly) c.*7+11982A>C (n.*7+11982A>C) | |
| 20 | g.34269046G>A | CA408648209 | AHCY,ASIP | c.278G>A (p.Cys93Tyr) c.290G>A (p.Cys97Tyr) c.*7+11981C>T (n.*7+11981C>T) | gnomAD v4 |
| 20 | g.34269046G>C | CA408648211 | AHCY,ASIP | c.278G>C (p.Cys93Ser) c.290G>C (p.Cys97Ser) c.*7+11981C>G (n.*7+11981C>G) | |
| 20 | g.34269046G>T | CA408648213 | AHCY,ASIP | c.278G>T (p.Cys93Phe) c.290G>T (p.Cys97Phe) c.*7+11981C>A (n.*7+11981C>A) | |
| 20 | g.34269047C>A | CA408648219 | AHCY,ASIP | c.279C>A (p.Cys93Ter) c.291C>A (p.Cys97Ter) c.*7+11980G>T (n.*7+11980G>T) | gnomAD v4 |
| 20 | g.34269047C>G | CA408648223 | AHCY,ASIP | c.279C>G (p.Cys93Trp) c.291C>G (p.Cys97Trp) c.*7+11980G>C (n.*7+11980G>C) | gnomAD v4 |
| 20 | g.34269047C>T | CA510271179 | AHCY,ASIP | c.279C>T (p.Cys93=) c.291C>T (p.Cys97=) c.*7+11980G>A (n.*7+11980G>A) | gnomAD v4 |
| 20 | g.34269048G>A | CA408648235 | AHCY,ASIP | c.280G>A (p.Val94Met) c.292G>A (p.Val98Met) c.*7+11979C>T (n.*7+11979C>T) | COSMIC |
| 20 | g.34269048G>C | CA408648232 | AHCY,ASIP | c.280G>C (p.Val94Leu) c.292G>C (p.Val98Leu) c.*7+11979C>G (n.*7+11979C>G) | |
| 20 | g.34269048G>T | CA408648229 | AHCY,ASIP | c.280G>T (p.Val94Leu) c.292G>T (p.Val98Leu) c.*7+11979C>A (n.*7+11979C>A) | gnomAD v4 |
| 20 | g.34269049T>A | CA408648239 | AHCY,ASIP | c.281T>A (p.Val94Glu) c.293T>A (p.Val98Glu) c.*7+11978A>T (n.*7+11978A>T) | |
| 20 | g.34269049T>C | CA408648247 | AHCY,ASIP | c.281T>C (p.Val94Ala) c.293T>C (p.Val98Ala) c.*7+11978A>G (n.*7+11978A>G) | |
| 20 | g.34269049T>G | CA408648250 | AHCY,ASIP | c.281T>G (p.Val94Gly) c.293T>G (p.Val98Gly) c.*7+11978A>C (n.*7+11978A>C) | |
| 20 | g.34269050G>A | CA510271180 | AHCY,ASIP | c.282G>A (p.Val94=) c.294G>A (p.Val98=) c.*7+11977C>T (n.*7+11977C>T) | gnomAD v4 |
| 20 | g.34269050G>C | CA510271181 | AHCY,ASIP | c.282G>C (p.Val94=) c.294G>C (p.Val98=) c.*7+11977C>G (n.*7+11977C>G) | |
| 20 | g.34269050G>T | CA510271182 | AHCY,ASIP | c.282G>T (p.Val94=) c.294G>T (p.Val98=) c.*7+11977C>A (n.*7+11977C>A) | gnomAD v4 |
| 20 | g.34269051G>A | CA408648255 | AHCY,ASIP | c.283G>A (p.Ala95Thr) c.295G>A (p.Ala99Thr) c.*7+11976C>T (n.*7+11976C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269051G>C | CA408648257 | AHCY,ASIP | c.283G>C (p.Ala95Pro) c.295G>C (p.Ala99Pro) c.*7+11976C>G (n.*7+11976C>G) | |
| 20 | g.34269051G= | CA2361127713 | AHCY,ASIP | c.283G= (p.Ala95=) c.295G= (p.Ala99=) c.*7+11976C= (n.*7+11976C=) | |
| 20 | g.34269051G>T | CA408648262 | AHCY,ASIP | c.283G>T (p.Ala95Ser) c.295G>T (p.Ala99Ser) c.*7+11976C>A (n.*7+11976C>A) | |
| 20 | g.34269052C>A | CA408648271 | AHCY,ASIP | c.284C>A (p.Ala95Asp) c.296C>A (p.Ala99Asp) c.*7+11975G>T (n.*7+11975G>T) | gnomAD v4 |
| 20 | g.34269052C>G | CA408648264 | AHCY,ASIP | c.284C>G (p.Ala95Gly) c.296C>G (p.Ala99Gly) c.*7+11975G>C (n.*7+11975G>C) | |
| 20 | g.34269052C>T | CA408648268 | AHCY,ASIP | c.284C>T (p.Ala95Val) c.296C>T (p.Ala99Val) c.*7+11975G>A (n.*7+11975G>A) | gnomAD v4 |
| 20 | g.34269053C>A | CA510271183 | AHCY,ASIP | c.285C>A (p.Ala95=) c.297C>A (p.Ala99=) c.*7+11974G>T (n.*7+11974G>T) | gnomAD v4 |
| 20 | g.34269053C= | CA2361127714 | AHCY,ASIP | c.285C= (p.Ala95=) c.297C= (p.Ala99=) c.*7+11974G= (n.*7+11974G=) | |
| 20 | g.34269053C>G | CA510271184 | AHCY,ASIP | c.285C>G (p.Ala95=) c.297C>G (p.Ala99=) c.*7+11974G>C (n.*7+11974G>C) | |
| 20 | g.34269053C>T | CA510271185 | AHCY,ASIP | c.285C>T (p.Ala95=) c.297C>T (p.Ala99=) c.*7+11974G>A (n.*7+11974G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269054A>C | CA408648274 | AHCY,ASIP | c.286A>C (p.Thr96Pro) c.298A>C (p.Thr100Pro) c.*7+11973T>G (n.*7+11973T>G) | gnomAD v4 |
| 20 | g.34269054A>G | CA408648275 | AHCY,ASIP | c.286A>G (p.Thr96Ala) c.298A>G (p.Thr100Ala) c.*7+11973T>C (n.*7+11973T>C) | |
| 20 | g.34269054A>T | CA408648276 | AHCY,ASIP | c.286A>T (p.Thr96Ser) c.298A>T (p.Thr100Ser) c.*7+11973T>A (n.*7+11973T>A) | |
| 20 | g.34269055C>A | CA408648280 | AHCY,ASIP | c.287C>A (p.Thr96Asn) c.299C>A (p.Thr100Asn) c.*7+11972G>T (n.*7+11972G>T) | dbSNP |
| 20 | g.34269055C= | CA2361127715 | AHCY,ASIP | c.287C= (p.Thr96=) c.299C= (p.Thr100=) c.*7+11972G= (n.*7+11972G=) | |
| 20 | g.34269055C>G | CA9820700 | AHCY,ASIP | c.287C>G (p.Thr96Ser) c.299C>G (p.Thr100Ser) c.*7+11972G>C (n.*7+11972G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269055C>T | CA408648290 | AHCY,ASIP | c.287C>T (p.Thr96Ile) c.299C>T (p.Thr100Ile) c.*7+11972G>A (n.*7+11972G>A) | |
| 20 | g.34269057del | CA2652532341 | AHCY,ASIP | c.289del (p.Arg97AlafsTer?) c.301del (p.Arg101AlafsTer?) c.*7+11972del (n.*7+11972del) | gnomAD v4 |
| 20 | g.34269056C>A | CA510271186 | AHCY,ASIP | c.288C>A (p.Thr96=) c.300C>A (p.Thr100=) c.*7+11971G>T (n.*7+11971G>T) | |
| 20 | g.34269056C= | CA2361127716 | AHCY,ASIP | c.288C= (p.Thr96=) c.300C= (p.Thr100=) c.*7+11971G= (n.*7+11971G=) | |
| 20 | g.34269056C>G | CA510271187 | AHCY,ASIP | c.288C>G (p.Thr96=) c.300C>G (p.Thr100=) c.*7+11971G>C (n.*7+11971G>C) | gnomAD v4 |
| 20 | g.34269056C>T | CA9820701 | AHCY,ASIP | c.288C>T (p.Thr96=) c.300C>T (p.Thr100=) c.*7+11971G>A (n.*7+11971G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269057C>A | CA408648296 | AHCY,ASIP | c.289C>A (p.Arg97Ser) c.301C>A (p.Arg101Ser) c.*7+11970G>T (n.*7+11970G>T) | gnomAD v4 |
| 20 | g.34269057C>G | CA408648303 | AHCY,ASIP | c.289C>G (p.Arg97Gly) c.301C>G (p.Arg101Gly) c.*7+11970G>C (n.*7+11970G>C) | |
| 20 | g.34269057C>T | CA408648306 | AHCY,ASIP | c.289C>T (p.Arg97Cys) c.301C>T (p.Arg101Cys) c.*7+11970G>A (n.*7+11970G>A) | gnomAD v4 |
| 20 | g.34269058G>A | CA9820702 | AHCY,ASIP | c.290G>A (p.Arg97His) c.302G>A (p.Arg101His) c.*7+11969C>T (n.*7+11969C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.34269058G>C | CA408648310 | AHCY,ASIP | c.290G>C (p.Arg97Pro) c.302G>C (p.Arg101Pro) c.*7+11969C>G (n.*7+11969C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269058G= | CA2361127717 | AHCY,ASIP | c.290G= (p.Arg97=) c.302G= (p.Arg101=) c.*7+11969C= (n.*7+11969C=) | |
| 20 | g.34269058G>T | CA408648314 | AHCY,ASIP | c.290G>T (p.Arg97Leu) c.302G>T (p.Arg101Leu) c.*7+11969C>A (n.*7+11969C>A) | gnomAD v4 |
| 20 | g.34269059C>A | CA510271188 | AHCY,ASIP | c.291C>A (p.Arg97=) c.303C>A (p.Arg101=) c.*7+11968G>T (n.*7+11968G>T) | gnomAD v4 |
| 20 | g.34269059C= | CA2361127718 | AHCY,ASIP | c.291C= (p.Arg97=) c.303C= (p.Arg101=) c.*7+11968G= (n.*7+11968G=) | |
| 20 | g.34269059C>G | CA510271189 | AHCY,ASIP | c.291C>G (p.Arg97=) c.303C>G (p.Arg101=) c.*7+11968G>C (n.*7+11968G>C) | |
| 20 | g.34269059C>T | CA510271190 | AHCY,ASIP | c.291C>T (p.Arg97=) c.303C>T (p.Arg101=) c.*7+11968G>A (n.*7+11968G>A) | dbSNP gnomAD v4 |
| 20 | g.34269060A>C | CA408648319 | AHCY,ASIP | c.292A>C (p.Asn98His) c.304A>C (p.Asn102His) c.*7+11967T>G (n.*7+11967T>G) | |
| 20 | g.34269060A>G | CA408648328 | AHCY,ASIP | c.292A>G (p.Asn98Asp) c.304A>G (p.Asn102Asp) c.*7+11967T>C (n.*7+11967T>C) | |
| 20 | g.34269060A>T | CA408648322 | AHCY,ASIP | c.292A>T (p.Asn98Tyr) c.304A>T (p.Asn102Tyr) c.*7+11967T>A (n.*7+11967T>A) | gnomAD v4 |
| 20 | g.34269061A= | CA2361127719 | AHCY,ASIP | c.293A= (p.Asn98=) c.305A= (p.Asn102=) c.*7+11966T= (n.*7+11966T=) | |
| 20 | g.34269061A>C | CA408648330 | AHCY,ASIP | c.293A>C (p.Asn98Thr) c.305A>C (p.Asn102Thr) c.*7+11966T>G (n.*7+11966T>G) | |
| 20 | g.34269061A>G | CA408648341 | AHCY,ASIP | c.293A>G (p.Asn98Ser) c.305A>G (p.Asn102Ser) c.*7+11966T>C (n.*7+11966T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269061A>T | CA408648345 | AHCY,ASIP | c.293A>T (p.Asn98Ile) c.305A>T (p.Asn102Ile) c.*7+11966T>A (n.*7+11966T>A) | gnomAD v4 |
| 20 | g.34269062_34269063insCCAAACACACCCAACAC | CA2816205311 | AHCY,ASIP | c.294_295insCCAAACACACCCAACAC (p.Ser99ProfsTer?) c.306_307insCCAAACACACCCAACAC (p.Ser103ProfsTer?) c.*7+11966_*7+11967insGTTGGGTGTGTTTGGGT (n.*7+11966_*7+11967insGTTGGGTGTGTTTGGGT) | |
| 20 | g.34269062C>A | CA408648349 | AHCY,ASIP | c.294C>A (p.Asn98Lys) c.306C>A (p.Asn102Lys) c.*7+11965G>T (n.*7+11965G>T) | gnomAD v4 |
| 20 | g.34269062C>G | CA408648353 | AHCY,ASIP | c.294C>G (p.Asn98Lys) c.306C>G (p.Asn102Lys) c.*7+11965G>C (n.*7+11965G>C) | |
| 20 | g.34269062C>T | CA510271192 | AHCY,ASIP | c.294C>T (p.Asn98=) c.306C>T (p.Asn102=) c.*7+11965G>A (n.*7+11965G>A) | |
| 20 | g.34269063A>C | CA408648354 | AHCY,ASIP | c.295A>C (p.Ser99Arg) c.307A>C (p.Ser103Arg) c.*7+11964T>G (n.*7+11964T>G) | |
| 20 | g.34269063A>G | CA408648355 | AHCY,ASIP | c.295A>G (p.Ser99Gly) c.307A>G (p.Ser103Gly) c.*7+11964T>C (n.*7+11964T>C) | |
| 20 | g.34269063A>T | CA408648366 | AHCY,ASIP | c.295A>T (p.Ser99Cys) c.307A>T (p.Ser103Cys) c.*7+11964T>A (n.*7+11964T>A) | |
| 20 | g.34269064G>A | CA408648383 | AHCY,ASIP | c.296G>A (p.Ser99Asn) c.308G>A (p.Ser103Asn) c.*7+11963C>T (n.*7+11963C>T) | |
| 20 | g.34269064G>C | CA408648386 | AHCY,ASIP | c.296G>C (p.Ser99Thr) c.308G>C (p.Ser103Thr) c.*7+11963C>G (n.*7+11963C>G) | dbSNP |
| 20 | g.34269064G= | CA2361127720 | AHCY,ASIP | c.296G= (p.Ser99=) c.308G= (p.Ser103=) c.*7+11963C= (n.*7+11963C=) | |
| 20 | g.34269064G>T | CA408648392 | AHCY,ASIP | c.296G>T (p.Ser99Ile) c.308G>T (p.Ser103Ile) c.*7+11963C>A (n.*7+11963C>A) | gnomAD v4 |
| 20 | g.34269065C>A | CA408648400 | AHCY,ASIP | c.297C>A (p.Ser99Arg) c.309C>A (p.Ser103Arg) c.*7+11962G>T (n.*7+11962G>T) | gnomAD v4 |
| 20 | g.34269065C= | CA2361127721 | AHCY,ASIP | c.297C= (p.Ser99=) c.309C= (p.Ser103=) c.*7+11962G= (n.*7+11962G=) | |
| 20 | g.34269065C>G | CA9820703 | AHCY,ASIP | c.297C>G (p.Ser99Arg) c.309C>G (p.Ser103Arg) c.*7+11962G>C (n.*7+11962G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269065C>T | CA510271193 | AHCY,ASIP | c.297C>T (p.Ser99=) c.309C>T (p.Ser103=) c.*7+11962G>A (n.*7+11962G>A) | gnomAD v4 |
| 20 | g.34269066T>A | CA408648410 | AHCY,ASIP | c.298T>A (p.Cys100Ser) c.310T>A (p.Cys104Ser) c.*7+11961A>T (n.*7+11961A>T) | gnomAD v4 |
| 20 | g.34269066T>C | CA408648418 | AHCY,ASIP | c.298T>C (p.Cys100Arg) c.310T>C (p.Cys104Arg) c.*7+11961A>G (n.*7+11961A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269066T>G | CA408648416 | AHCY,ASIP | c.298T>G (p.Cys100Gly) c.310T>G (p.Cys104Gly) c.*7+11961A>C (n.*7+11961A>C) | |
| 20 | g.34269066T= | CA2361127722 | AHCY,ASIP | c.298T= (p.Cys100=) c.310T= (p.Cys104=) c.*7+11961A= (n.*7+11961A=) | |
| 20 | g.34269067G>A | CA408648422 | AHCY,ASIP | c.299G>A (p.Cys100Tyr) c.311G>A (p.Cys104Tyr) c.*7+11960C>T (n.*7+11960C>T) | gnomAD v4 |
| 20 | g.34269067G>C | CA408648425 | AHCY,ASIP | c.299G>C (p.Cys100Ser) c.311G>C (p.Cys104Ser) c.*7+11960C>G (n.*7+11960C>G) | |
| 20 | g.34269067G>T | CA408648426 | AHCY,ASIP | c.299G>T (p.Cys100Phe) c.311G>T (p.Cys104Phe) c.*7+11960C>A (n.*7+11960C>A) | gnomAD v4 |
| 20 | g.34269068C>A | CA408648429 | AHCY,ASIP | c.300C>A (p.Cys100Ter) c.312C>A (p.Cys104Ter) c.*7+11959G>T (n.*7+11959G>T) | gnomAD v4 |
| 20 | g.34269068C>G | CA408648433 | AHCY,ASIP | c.300C>G (p.Cys100Trp) c.312C>G (p.Cys104Trp) c.*7+11959G>C (n.*7+11959G>C) | |
| 20 | g.34269068C>T | CA510271194 | AHCY,ASIP | c.300C>T (p.Cys100=) c.312C>T (p.Cys104=) c.*7+11959G>A (n.*7+11959G>A) | |
| 20 | g.34269069A>C | CA408648434 | AHCY,ASIP | c.301A>C (p.Lys101Gln) c.313A>C (p.Lys105Gln) c.*7+11958T>G (n.*7+11958T>G) | |
| 20 | g.34269069A>G | CA408648436 | AHCY,ASIP | c.301A>G (p.Lys101Glu) c.313A>G (p.Lys105Glu) c.*7+11958T>C (n.*7+11958T>C) | gnomAD v4 |
| 20 | g.34269069A>T | CA408648440 | AHCY,ASIP | c.301A>T (p.Lys101Ter) c.313A>T (p.Lys105Ter) c.*7+11958T>A (n.*7+11958T>A) | |
| 20 | g.34269070A>C | CA408648446 | AHCY,ASIP | c.302A>C (p.Lys101Thr) c.314A>C (p.Lys105Thr) c.*7+11957T>G (n.*7+11957T>G) | |
| 20 | g.34269070A>G | CA408648450 | AHCY,ASIP | c.302A>G (p.Lys101Arg) c.314A>G (p.Lys105Arg) c.*7+11957T>C (n.*7+11957T>C) | gnomAD v4 |
| 20 | g.34269070A>T | CA408648453 | AHCY,ASIP | c.302A>T (p.Lys101Met) c.314A>T (p.Lys105Met) c.*7+11957T>A (n.*7+11957T>A) | |
| 20 | g.34269071G>A | CA510271195 | AHCY,ASIP | c.303G>A (p.Lys101=) c.315G>A (p.Lys105=) c.*7+11956C>T (n.*7+11956C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269071G>C | CA408648455 | AHCY,ASIP | c.303G>C (p.Lys101Asn) c.315G>C (p.Lys105Asn) c.*7+11956C>G (n.*7+11956C>G) | |
| 20 | g.34269071G= | CA2361127723 | AHCY,ASIP | c.303G= (p.Lys101=) c.315G= (p.Lys105=) c.*7+11956C= (n.*7+11956C=) | |
| 20 | g.34269071G>T | CA408648458 | AHCY,ASIP | c.303G>T (p.Lys101Asn) c.315G>T (p.Lys105Asn) c.*7+11956C>A (n.*7+11956C>A) | |
| 20 | g.34269072C>A | CA408648462 | AHCY,ASIP | c.304C>A (p.Pro102Thr) c.316C>A (p.Pro106Thr) c.*7+11955G>T (n.*7+11955G>T) | dbSNP gnomAD v4 |
| 20 | g.34269072C= | CA2361127724 | AHCY,ASIP | c.304C= (p.Pro102=) c.316C= (p.Pro106=) c.*7+11955G= (n.*7+11955G=) | |
| 20 | g.34269072C>G | CA408648469 | AHCY,ASIP | c.304C>G (p.Pro102Ala) c.316C>G (p.Pro106Ala) c.*7+11955G>C (n.*7+11955G>C) | |
| 20 | g.34269072C>T | CA408648465 | AHCY,ASIP | c.304C>T (p.Pro102Ser) c.316C>T (p.Pro106Ser) c.*7+11955G>A (n.*7+11955G>A) | gnomAD v4 |
| 20 | g.34269073C>A | CA408648472 | AHCY,ASIP | c.305C>A (p.Pro102Gln) c.317C>A (p.Pro106Gln) c.*7+11954G>T (n.*7+11954G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.34269073C= | CA2361127725 | AHCY,ASIP | c.305C= (p.Pro102=) c.317C= (p.Pro106=) c.*7+11954G= (n.*7+11954G=) | |
| 20 | g.34269073C>G | CA408648474 | AHCY,ASIP | c.305C>G (p.Pro102Arg) c.317C>G (p.Pro106Arg) c.*7+11954G>C (n.*7+11954G>C) | |
| 20 | g.34269073C>T | CA408648473 | AHCY,ASIP | c.305C>T (p.Pro102Leu) c.317C>T (p.Pro106Leu) c.*7+11954G>A (n.*7+11954G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269074G>A | CA510271196 | AHCY,ASIP | c.306G>A (p.Pro102=) c.318G>A (p.Pro106=) c.*7+11953C>T (n.*7+11953C>T) | gnomAD v4 |
| 20 | g.34269074G>C | CA510271197 | AHCY,ASIP | c.306G>C (p.Pro102=) c.318G>C (p.Pro106=) c.*7+11953C>G (n.*7+11953C>G) | gnomAD v4 |
| 20 | g.34269074G>T | CA510271198 | AHCY,ASIP | c.306G>T (p.Pro102=) c.318G>T (p.Pro106=) c.*7+11953C>A (n.*7+11953C>A) | gnomAD v4 |
| 20 | g.34269075C>A | CA408648476 | AHCY,ASIP | c.307C>A (p.Pro103Thr) c.319C>A (p.Pro107Thr) c.*7+11952G>T (n.*7+11952G>T) | |
| 20 | g.34269075C>G | CA408648479 | AHCY,ASIP | c.307C>G (p.Pro103Ala) c.319C>G (p.Pro107Ala) c.*7+11952G>C (n.*7+11952G>C) | |
| 20 | g.34269075C>T | CA408648482 | AHCY,ASIP | c.307C>T (p.Pro103Ser) c.319C>T (p.Pro107Ser) c.*7+11952G>A (n.*7+11952G>A) | gnomAD v4 |
| 20 | g.34269076C>A | CA408648490 | AHCY,ASIP | c.308C>A (p.Pro103Gln) c.320C>A (p.Pro107Gln) c.*7+11951G>T (n.*7+11951G>T) | gnomAD v4 |
| 20 | g.34269076C= | CA2361127726 | AHCY,ASIP | c.308C= (p.Pro103=) c.320C= (p.Pro107=) c.*7+11951G= (n.*7+11951G=) | |
| 20 | g.34269076C>G | CA408648499 | AHCY,ASIP | c.308C>G (p.Pro103Arg) c.320C>G (p.Pro107Arg) c.*7+11951G>C (n.*7+11951G>C) | |
| 20 | g.34269076C>T | CA9820704 | AHCY,ASIP | c.308C>T (p.Pro103Leu) c.320C>T (p.Pro107Leu) c.*7+11951G>A (n.*7+11951G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269077G>A | CA510271199 | AHCY,ASIP | c.309G>A (p.Pro103=) c.321G>A (p.Pro107=) c.*7+11950C>T (n.*7+11950C>T) | dbSNP gnomAD v4 |
| 20 | g.34269077G>C | CA510271201 | AHCY,ASIP | c.309G>C (p.Pro103=) c.321G>C (p.Pro107=) c.*7+11950C>G (n.*7+11950C>G) | |
| 20 | g.34269077G= | CA2361127727 | AHCY,ASIP | c.309G= (p.Pro103=) c.321G= (p.Pro107=) c.*7+11950C= (n.*7+11950C=) | |
| 20 | g.34269077G>T | CA510271200 | AHCY,ASIP | c.309G>T (p.Pro103=) c.321G>T (p.Pro107=) c.*7+11950C>A (n.*7+11950C>A) | gnomAD v4 |
| 20 | g.34269078G>A | CA408648509 | AHCY,ASIP | c.310G>A (p.Ala104Thr) c.322G>A (p.Ala108Thr) c.*7+11949C>T (n.*7+11949C>T) | gnomAD v4 |
| 20 | g.34269078G>C | CA408648511 | AHCY,ASIP | c.310G>C (p.Ala104Pro) c.322G>C (p.Ala108Pro) c.*7+11949C>G (n.*7+11949C>G) | |
| 20 | g.34269078G>T | CA408648514 | AHCY,ASIP | c.310G>T (p.Ala104Ser) c.322G>T (p.Ala108Ser) c.*7+11949C>A (n.*7+11949C>A) | gnomAD v4 |
| 20 | g.34269079C>A | CA408648518 | AHCY,ASIP | c.311C>A (p.Ala104Glu) c.323C>A (p.Ala108Glu) c.*7+11948G>T (n.*7+11948G>T) | gnomAD v4 |
| 20 | g.34269079C>G | CA408648521 | AHCY,ASIP | c.311C>G (p.Ala104Gly) c.323C>G (p.Ala108Gly) c.*7+11948G>C (n.*7+11948G>C) | |
| 20 | g.34269079C>T | CA408648522 | AHCY,ASIP | c.311C>T (p.Ala104Val) c.323C>T (p.Ala108Val) c.*7+11948G>A (n.*7+11948G>A) | |
| 20 | g.34269080A= | CA2361127728 | AHCY,ASIP | c.312A= (p.Ala104=) c.324A= (p.Ala108=) c.*7+11947T= (n.*7+11947T=) | |
| 20 | g.34269080A>C | CA510271202 | AHCY,ASIP | c.312A>C (p.Ala104=) c.324A>C (p.Ala108=) c.*7+11947T>G (n.*7+11947T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269080A>G | CA313334634 | AHCY,ASIP | c.312A>G (p.Ala104=) c.324A>G (p.Ala108=) c.*7+11947T>C (n.*7+11947T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269080A>T | CA510271203 | AHCY,ASIP | c.312A>T (p.Ala104=) c.324A>T (p.Ala108=) c.*7+11947T>A (n.*7+11947T>A) | |
| 20 | g.34269081C>A | CA9820705 | AHCY,ASIP | c.313C>A (p.Pro105Thr) c.325C>A (p.Pro109Thr) c.*7+11946G>T (n.*7+11946G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269081C= | CA2361127729 | AHCY,ASIP | c.313C= (p.Pro105=) c.325C= (p.Pro109=) c.*7+11946G= (n.*7+11946G=) | |
| 20 | g.34269081C>G | CA408648538 | AHCY,ASIP | c.313C>G (p.Pro105Ala) c.325C>G (p.Pro109Ala) c.*7+11946G>C (n.*7+11946G>C) | |
| 20 | g.34269081C>T | CA408648526 | AHCY,ASIP | c.313C>T (p.Pro105Ser) c.325C>T (p.Pro109Ser) c.*7+11946G>A (n.*7+11946G>A) | gnomAD v4 |
| 20 | g.34269082C>A | CA408648542 | AHCY,ASIP | c.314C>A (p.Pro105His) c.326C>A (p.Pro109His) c.*7+11945G>T (n.*7+11945G>T) | dbSNP gnomAD v4 |
| 20 | g.34269082C>G | CA408648544 | AHCY,ASIP | c.314C>G (p.Pro105Arg) c.326C>G (p.Pro109Arg) c.*7+11945G>C (n.*7+11945G>C) | |
| 20 | g.34269082C>T | CA408648549 | AHCY,ASIP | c.314C>T (p.Pro105Leu) c.326C>T (p.Pro109Leu) c.*7+11945G>A (n.*7+11945G>A) | gnomAD v4 |
| 20 | g.34269083C>A | CA510271204 | AHCY,ASIP | c.315C>A (p.Pro105=) c.327C>A (p.Pro109=) c.*7+11944G>T (n.*7+11944G>T) | gnomAD v4 |
| 20 | g.34269083C= | CA2361127730 | AHCY,ASIP | c.315C= (p.Pro105=) c.327C= (p.Pro109=) c.*7+11944G= (n.*7+11944G=) | |
| 20 | g.34269083C>G | CA510271205 | AHCY,ASIP | c.315C>G (p.Pro105=) c.327C>G (p.Pro109=) c.*7+11944G>C (n.*7+11944G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269083C>T | CA510271206 | AHCY,ASIP | c.315C>T (p.Pro105=) c.327C>T (p.Pro109=) c.*7+11944G>A (n.*7+11944G>A) | gnomAD v4 |
| 20 | g.34269088_34269105dup | CA2652532342 | AHCY,ASIP | c.320_337dup (p.Ala112_Ser113insCysCysAspProCysAla) c.332_349dup (p.Ala116_Ser117insCysCysAspProCysAla) c.*7+11927_*7+11944dup (n.*7+11927_*7+11944dup) | gnomAD v4 |
| 20 | g.34269084G>A | CA408648552 | AHCY,ASIP | c.316G>A (p.Ala106Thr) c.328G>A (p.Ala110Thr) c.*7+11943C>T (n.*7+11943C>T) | dbSNP gnomAD v4 |
| 20 | g.34269084G>C | CA408648555 | AHCY,ASIP | c.316G>C (p.Ala106Pro) c.328G>C (p.Ala110Pro) c.*7+11943C>G (n.*7+11943C>G) | |
| 20 | g.34269084G= | CA2361127731 | AHCY,ASIP | c.316G= (p.Ala106=) c.328G= (p.Ala110=) c.*7+11943C= (n.*7+11943C=) | |
| 20 | g.34269084G>T | CA408648558 | AHCY,ASIP | c.316G>T (p.Ala106Ser) c.328G>T (p.Ala110Ser) c.*7+11943C>A (n.*7+11943C>A) | gnomAD v4 |
| 20 | g.34269085C>A | CA408648561 | AHCY,ASIP | c.317C>A (p.Ala106Asp) c.329C>A (p.Ala110Asp) c.*7+11942G>T (n.*7+11942G>T) | gnomAD v4 |
| 20 | g.34269085C>G | CA408648562 | AHCY,ASIP | c.317C>G (p.Ala106Gly) c.329C>G (p.Ala110Gly) c.*7+11942G>C (n.*7+11942G>C) | |
| 20 | g.34269085C>T | CA408648563 | AHCY,ASIP | c.317C>T (p.Ala106Val) c.329C>T (p.Ala110Val) c.*7+11942G>A (n.*7+11942G>A) | |
| 20 | g.34269086C>A | CA510271209 | AHCY,ASIP | c.318C>A (p.Ala106=) c.330C>A (p.Ala110=) c.*7+11941G>T (n.*7+11941G>T) | gnomAD v4 |
| 20 | g.34269086C>G | CA510271208 | AHCY,ASIP | c.318C>G (p.Ala106=) c.330C>G (p.Ala110=) c.*7+11941G>C (n.*7+11941G>C) | |
| 20 | g.34269086C>T | CA510271207 | AHCY,ASIP | c.318C>T (p.Ala106=) c.330C>T (p.Ala110=) c.*7+11941G>A (n.*7+11941G>A) | |
| 20 | g.34269087T>A | CA408648567 | AHCY,ASIP | c.319T>A (p.Cys107Ser) c.331T>A (p.Cys111Ser) c.*7+11940A>T (n.*7+11940A>T) | gnomAD v4 |
| 20 | g.34269087T>C | CA408648569 | AHCY,ASIP | c.319T>C (p.Cys107Arg) c.331T>C (p.Cys111Arg) c.*7+11940A>G (n.*7+11940A>G) | |
| 20 | g.34269087T>G | CA408648564 | AHCY,ASIP | c.319T>G (p.Cys107Gly) c.331T>G (p.Cys111Gly) c.*7+11940A>C (n.*7+11940A>C) | |
| 20 | g.34269088G>A | CA408648573 | AHCY,ASIP | c.320G>A (p.Cys107Tyr) c.332G>A (p.Cys111Tyr) c.*7+11939C>T (n.*7+11939C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269088G>C | CA408648575 | AHCY,ASIP | c.320G>C (p.Cys107Ser) c.332G>C (p.Cys111Ser) c.*7+11939C>G (n.*7+11939C>G) | gnomAD v4 |
| 20 | g.34269088G= | CA2361127732 | AHCY,ASIP | c.320G= (p.Cys107=) c.332G= (p.Cys111=) c.*7+11939C= (n.*7+11939C=) | |
| 20 | g.34269088G>T | CA408648578 | AHCY,ASIP | c.320G>T (p.Cys107Phe) c.332G>T (p.Cys111Phe) c.*7+11939C>A (n.*7+11939C>A) | gnomAD v4 |
| 20 | g.34269089C>A | CA408648582 | AHCY,ASIP | c.321C>A (p.Cys107Ter) c.333C>A (p.Cys111Ter) c.*7+11938G>T (n.*7+11938G>T) | gnomAD v4 |
| 20 | g.34269089C>G | CA408648583 | AHCY,ASIP | c.321C>G (p.Cys107Trp) c.333C>G (p.Cys111Trp) c.*7+11938G>C (n.*7+11938G>C) | |
| 20 | g.34269089C>T | CA510271210 | AHCY,ASIP | c.321C>T (p.Cys107=) c.333C>T (p.Cys111=) c.*7+11938G>A (n.*7+11938G>A) | gnomAD v4 |
| 20 | g.34269090T>A | CA408648591 | AHCY,ASIP | c.322T>A (p.Cys108Ser) c.334T>A (p.Cys112Ser) c.*7+11937A>T (n.*7+11937A>T) | |
| 20 | g.34269090T>C | CA408648585 | AHCY,ASIP | c.322T>C (p.Cys108Arg) c.334T>C (p.Cys112Arg) c.*7+11937A>G (n.*7+11937A>G) | |
| 20 | g.34269090T>G | CA408648588 | AHCY,ASIP | c.322T>G (p.Cys108Gly) c.334T>G (p.Cys112Gly) c.*7+11937A>C (n.*7+11937A>C) | |
| 20 | g.34269091G>A | CA408648595 | AHCY,ASIP | c.323G>A (p.Cys108Tyr) c.335G>A (p.Cys112Tyr) c.*7+11936C>T (n.*7+11936C>T) | |
| 20 | g.34269091G>C | CA408648603 | AHCY,ASIP | c.323G>C (p.Cys108Ser) c.335G>C (p.Cys112Ser) c.*7+11936C>G (n.*7+11936C>G) | |
| 20 | g.34269091G>T | CA408648607 | AHCY,ASIP | c.323G>T (p.Cys108Phe) c.335G>T (p.Cys112Phe) c.*7+11936C>A (n.*7+11936C>A) | gnomAD v4 |
| 20 | g.34269092C>A | CA408648610 | AHCY,ASIP | c.324C>A (p.Cys108Ter) c.336C>A (p.Cys112Ter) c.*7+11935G>T (n.*7+11935G>T) | gnomAD v4 |
| 20 | g.34269092C>G | CA408648613 | AHCY,ASIP | c.324C>G (p.Cys108Trp) c.336C>G (p.Cys112Trp) c.*7+11935G>C (n.*7+11935G>C) | |
| 20 | g.34269092C>T | CA510271211 | AHCY,ASIP | c.324C>T (p.Cys108=) c.336C>T (p.Cys112=) c.*7+11935G>A (n.*7+11935G>A) | gnomAD v4 COSMIC |
| 20 | g.34269093G>A | CA408648624 | AHCY,ASIP | c.325G>A (p.Asp109Asn) c.337G>A (p.Asp113Asn) c.*7+11934C>T (n.*7+11934C>T) | dbSNP gnomAD v4 COSMIC |
| 20 | g.34269093G>C | CA408648629 | AHCY,ASIP | c.325G>C (p.Asp109His) c.337G>C (p.Asp113His) c.*7+11934C>G (n.*7+11934C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269093G= | CA2361127733 | AHCY,ASIP | c.325G= (p.Asp109=) c.337G= (p.Asp113=) c.*7+11934C= (n.*7+11934C=) | |
| 20 | g.34269093G>T | CA408648627 | AHCY,ASIP | c.325G>T (p.Asp109Tyr) c.337G>T (p.Asp113Tyr) c.*7+11934C>A (n.*7+11934C>A) | gnomAD v4 |
| 20 | g.34269094A>C | CA408648633 | AHCY,ASIP | c.326A>C (p.Asp109Ala) c.338A>C (p.Asp113Ala) c.*7+11933T>G (n.*7+11933T>G) | gnomAD v4 |
| 20 | g.34269094A>G | CA408648639 | AHCY,ASIP | c.326A>G (p.Asp109Gly) c.338A>G (p.Asp113Gly) c.*7+11933T>C (n.*7+11933T>C) | |
| 20 | g.34269094A>T | CA408648641 | AHCY,ASIP | c.326A>T (p.Asp109Val) c.338A>T (p.Asp113Val) c.*7+11933T>A (n.*7+11933T>A) |