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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.69599807_69599809del | CA2683151454 | AUTS2 | c.154_156del (p.Ser52del) | gnomAD v4 |
| 7 | g.69599802C>A | CA16605888 | AUTS2 | c.149C>A (p.Ser50Ter) | ClinVar dbSNP |
| 7 | g.69599802C= | CA1715634450 | AUTS2 | c.149C= (p.Ser50=) | |
| 7 | g.69599802C>G | CA4280241 | AUTS2 | c.149C>G (p.Ser50Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599802C>T | CA367702947 | AUTS2 | c.149C>T (p.Ser50Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599803G>A | CA456057737 | AUTS2 | c.150G>A (p.Ser50=) | gnomAD v4 |
| 7 | g.69599803G>C | CA456057739 | AUTS2 | c.150G>C (p.Ser50=) | |
| 7 | g.69599803G>T | CA456057736 | AUTS2 | c.150G>T (p.Ser50=) | gnomAD v4 |
| 7 | g.69599804T>A | CA367702950 | AUTS2 | c.151T>A (p.Ser51Thr) | |
| 7 | g.69599804T>C | CA367702948 | AUTS2 | c.151T>C (p.Ser51Pro) | |
| 7 | g.69599804T>G | CA367702949 | AUTS2 | c.151T>G (p.Ser51Ala) | |
| 7 | g.69599805C>A | CA367702951 | AUTS2 | c.152C>A (p.Ser51Ter) | gnomAD v4 |
| 7 | g.69599805C>G | CA367702952 | AUTS2 | c.152C>G (p.Ser51Trp) | |
| 7 | g.69599805C>T | CA367702953 | AUTS2 | c.152C>T (p.Ser51Leu) | gnomAD v4 |
| 7 | g.69599806G>A | CA456057745 | AUTS2 | c.153G>A (p.Ser51=) | |
| 7 | g.69599806G>C | CA4280242 | AUTS2 | c.153G>C (p.Ser51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599806G= | CA1715634451 | AUTS2 | c.153G= (p.Ser51=) | |
| 7 | g.69599806G>T | CA456057746 | AUTS2 | c.153G>T (p.Ser51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599807T>A | CA367702954 | AUTS2 | c.154T>A (p.Ser52Thr) | |
| 7 | g.69599807T>C | CA367702955 | AUTS2 | c.154T>C (p.Ser52Pro) | gnomAD v4 |
| 7 | g.69599807T>G | CA367702956 | AUTS2 | c.154T>G (p.Ser52Ala) | |
| 7 | g.69599808C>A | CA367702957 | AUTS2 | c.155C>A (p.Ser52Ter) | |
| 7 | g.69599808C= | CA1715634452 | AUTS2 | c.155C= (p.Ser52=) | |
| 7 | g.69599808C>G | CA367702958 | AUTS2 | c.155C>G (p.Ser52Trp) | |
| 7 | g.69599808C>T | CA367702959 | AUTS2 | c.155C>T (p.Ser52Leu) | dbSNP gnomAD v4 |
| 7 | g.69599809G>A | CA456057751 | AUTS2 | c.156G>A (p.Ser52=) | gnomAD v4 |
| 7 | g.69599809G>C | CA456057752 | AUTS2 | c.156G>C (p.Ser52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599809G= | CA1715634453 | AUTS2 | c.156G= (p.Ser52=) | |
| 7 | g.69599809G>T | CA456057753 | AUTS2 | c.156G>T (p.Ser52=) | |
| 7 | g.69599810G>A | CA4280243 | AUTS2 | c.157G>A (p.Gly53Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599810G>C | CA367702960 | AUTS2 | c.157G>C (p.Gly53Arg) | |
| 7 | g.69599810G= | CA1715634454 | AUTS2 | c.157G= (p.Gly53=) | |
| 7 | g.69599810G>T | CA367702961 | AUTS2 | c.157G>T (p.Gly53Cys) | gnomAD v4 |
| 7 | g.69599811G>A | CA367702963 | AUTS2 | c.158G>A (p.Gly53Asp) | gnomAD v4 |
| 7 | g.69599811G>C | CA367702964 | AUTS2 | c.158G>C (p.Gly53Ala) | |
| 7 | g.69599811G>T | CA367702962 | AUTS2 | c.158G>T (p.Gly53Val) | gnomAD v4 |
| 7 | g.69599812C>A | CA456057757 | AUTS2 | c.159C>A (p.Gly53=) | |
| 7 | g.69599812C= | CA1715634455 | AUTS2 | c.159C= (p.Gly53=) | |
| 7 | g.69599812C>G | CA456057756 | AUTS2 | c.159C>G (p.Gly53=) | |
| 7 | g.69599812C>T | CA456057755 | AUTS2 | c.159C>T (p.Gly53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599813T>A | CA367702965 | AUTS2 | c.160T>A (p.Ser54Thr) | |
| 7 | g.69599813T>C | CA367702966 | AUTS2 | c.160T>C (p.Ser54Pro) | |
| 7 | g.69599813T>G | CA367702967 | AUTS2 | c.160T>G (p.Ser54Ala) | |
| 7 | g.69599814C>A | CA367702968 | AUTS2 | c.161C>A (p.Ser54Tyr) | |
| 7 | g.69599814C= | CA1715634456 | AUTS2 | c.161C= (p.Ser54=) | |
| 7 | g.69599814C>G | CA367702969 | AUTS2 | c.161C>G (p.Ser54Cys) | |
| 7 | g.69599814C>T | CA367702970 | AUTS2 | c.161C>T (p.Ser54Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599815C>A | CA456057762 | AUTS2 | c.162C>A (p.Ser54=) | |
| 7 | g.69599815C= | CA1715634457 | AUTS2 | c.162C= (p.Ser54=) | |
| 7 | g.69599815C>G | CA160529084 | AUTS2 | c.162C>G (p.Ser54=) | dbSNP |
| 7 | g.69599815C>T | CA456057761 | AUTS2 | c.162C>T (p.Ser54=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599816G>A | CA367702973 | AUTS2 | c.163G>A (p.Asp55Asn) | |
| 7 | g.69599816G>C | CA367702971 | AUTS2 | c.163G>C (p.Asp55His) | gnomAD v4 |
| 7 | g.69599816G>T | CA367702972 | AUTS2 | c.163G>T (p.Asp55Tyr) | |
| 7 | g.69599817A>C | CA367702974 | AUTS2 | c.164A>C (p.Asp55Ala) | |
| 7 | g.69599817A>G | CA367702975 | AUTS2 | c.164A>G (p.Asp55Gly) | |
| 7 | g.69599817A>T | CA367702976 | AUTS2 | c.164A>T (p.Asp55Val) | |
| 7 | g.69599818C>A | CA367702977 | AUTS2 | c.165C>A (p.Asp55Glu) | |
| 7 | g.69599818C>G | CA367702978 | AUTS2 | c.165C>G (p.Asp55Glu) | |
| 7 | g.69599818C>T | CA456057766 | AUTS2 | c.165C>T (p.Asp55=) | |
| 7 | g.69599819A>C | CA367702981 | AUTS2 | c.166A>C (p.Lys56Gln) | |
| 7 | g.69599819A>G | CA367702979 | AUTS2 | c.166A>G (p.Lys56Glu) | |
| 7 | g.69599819A>T | CA367702980 | AUTS2 | c.166A>T (p.Lys56Ter) | |
| 7 | g.69599820A= | CA1715634458 | AUTS2 | c.167A= (p.Lys56=) | |
| 7 | g.69599820A>C | CA367702982 | AUTS2 | c.167A>C (p.Lys56Thr) | |
| 7 | g.69599820A>G | CA4280244 | AUTS2 | c.167A>G (p.Lys56Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599820A>T | CA367702983 | AUTS2 | c.167A>T (p.Lys56Met) | |
| 7 | g.69599821G>A | CA456057768 | AUTS2 | c.168G>A (p.Lys56=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599821G>C | CA367702984 | AUTS2 | c.168G>C (p.Lys56Asn) | |
| 7 | g.69599821G= | CA1715634459 | AUTS2 | c.168G= (p.Lys56=) | |
| 7 | g.69599821G>T | CA367702985 | AUTS2 | c.168G>T (p.Lys56Asn) | |
| 7 | g.69599822G>A | CA367702986 | AUTS2 | c.169G>A (p.Glu57Lys) | |
| 7 | g.69599822G>C | CA367702987 | AUTS2 | c.169G>C (p.Glu57Gln) | |
| 7 | g.69599822G>T | CA367702988 | AUTS2 | c.169G>T (p.Glu57Ter) | |
| 7 | g.69599823A= | CA1715634460 | AUTS2 | c.170A= (p.Glu57=) | |
| 7 | g.69599823A>C | CA367702989 | AUTS2 | c.170A>C (p.Glu57Ala) | dbSNP |
| 7 | g.69599823A>G | CA367702990 | AUTS2 | c.170A>G (p.Glu57Gly) | |
| 7 | g.69599823A>T | CA367702991 | AUTS2 | c.170A>T (p.Glu57Val) | |
| 7 | g.69599824A= | CA1715634461 | AUTS2 | c.171A= (p.Glu57=) | |
| 7 | g.69599824A>C | CA367702992 | AUTS2 | c.171A>C (p.Glu57Asp) | |
| 7 | g.69599824A>G | CA456057775 | AUTS2 | c.171A>G (p.Glu57=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599824A>T | CA367702993 | AUTS2 | c.171A>T (p.Glu57Asp) | |
| 7 | g.69599825G>A | CA367702996 | AUTS2 | c.172G>A (p.Asp58Asn) | |
| 7 | g.69599825G>C | CA367702994 | AUTS2 | c.172G>C (p.Asp58His) | |
| 7 | g.69599825G>T | CA367702995 | AUTS2 | c.172G>T (p.Asp58Tyr) | |
| 7 | g.69599826A>C | CA367702997 | AUTS2 | c.173A>C (p.Asp58Ala) | |
| 7 | g.69599826A>G | CA367702998 | AUTS2 | c.173A>G (p.Asp58Gly) | |
| 7 | g.69599826A>T | CA367702999 | AUTS2 | c.173A>T (p.Asp58Val) | |
| 7 | g.69599827C>A | CA367703000 | AUTS2 | c.174C>A (p.Asp58Glu) | |
| 7 | g.69599827C>G | CA367703001 | AUTS2 | c.174C>G (p.Asp58Glu) | gnomAD v4 |
| 7 | g.69599827C>T | CA456057776 | AUTS2 | c.174C>T (p.Asp58=) | |
| 7 | g.69599828A>C | CA367703002 | AUTS2 | c.175A>C (p.Asn59His) | |
| 7 | g.69599828A>G | CA367703003 | AUTS2 | c.175A>G (p.Asn59Asp) | |
| 7 | g.69599828A>T | CA367703004 | AUTS2 | c.175A>T (p.Asn59Tyr) | |
| 7 | g.69599829A>C | CA367703005 | AUTS2 | c.176A>C (p.Asn59Thr) | |
| 7 | g.69599829A>G | CA367703006 | AUTS2 | c.176A>G (p.Asn59Ser) | |
| 7 | g.69599829A>T | CA367703007 | AUTS2 | c.176A>T (p.Asn59Ile) | |
| 7 | g.69599830T>A | CA367703008 | AUTS2 | c.177T>A (p.Asn59Lys) | |
| 7 | g.69599830T>C | CA456057780 | AUTS2 | c.177T>C (p.Asn59=) | |
| 7 | g.69599830T>G | CA367703009 | AUTS2 | c.177T>G (p.Asn59Lys) | |
| 7 | g.69599831G>A | CA367703012 | AUTS2 | c.178G>A (p.Gly60Arg) | gnomAD v4 |
| 7 | g.69599831G>C | CA367703011 | AUTS2 | c.178G>C (p.Gly60Arg) | |
| 7 | g.69599831G>T | CA367703010 | AUTS2 | c.178G>T (p.Gly60Trp) | |
| 7 | g.69599833del | CA2683151455 | AUTS2 | c.180del (p.Lys61SerfsTer?) | gnomAD v4 |
| 7 | g.69599832G>A | CA367703013 | AUTS2 | c.179G>A (p.Gly60Glu) | |
| 7 | g.69599832G>C | CA367703014 | AUTS2 | c.179G>C (p.Gly60Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599832G= | CA1715634462 | AUTS2 | c.179G= (p.Gly60=) | |
| 7 | g.69599832G>T | CA367703015 | AUTS2 | c.179G>T (p.Gly60Val) | |
| 7 | g.69599833G>A | CA4280245 | AUTS2 | c.180G>A (p.Gly60=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599833G>C | CA456057787 | AUTS2 | c.180G>C (p.Gly60=) | dbSNP gnomAD v4 |
| 7 | g.69599833G= | CA1715634463 | AUTS2 | c.180G= (p.Gly60=) | |
| 7 | g.69599833G>T | CA456057788 | AUTS2 | c.180G>T (p.Gly60=) | gnomAD v4 |
| 7 | g.69599834A>C | CA367703016 | AUTS2 | c.181A>C (p.Lys61Gln) | |
| 7 | g.69599834A>G | CA367703017 | AUTS2 | c.181A>G (p.Lys61Glu) | |
| 7 | g.69599834A>T | CA367703018 | AUTS2 | c.181A>T (p.Lys61Ter) | |
| 7 | g.69599835A>C | CA367703019 | AUTS2 | c.182A>C (p.Lys61Thr) | |
| 7 | g.69599835A>G | CA367703020 | AUTS2 | c.182A>G (p.Lys61Arg) | |
| 7 | g.69599835A>T | CA367703021 | AUTS2 | c.182A>T (p.Lys61Met) | |
| 7 | g.69599836G>A | CA4280246 | AUTS2 | c.183G>A (p.Lys61=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599836G>C | CA367703022 | AUTS2 | c.183G>C (p.Lys61Asn) | |
| 7 | g.69599836G= | CA1715634464 | AUTS2 | c.183G= (p.Lys61=) | |
| 7 | g.69599836G>T | CA367703023 | AUTS2 | c.183G>T (p.Lys61Asn) | gnomAD v4 |
| 7 | g.69599837C>A | CA367703025 | AUTS2 | c.184C>A (p.Pro62Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599837C= | CA1715634465 | AUTS2 | c.184C= (p.Pro62=) | |
| 7 | g.69599837C>G | CA367703026 | AUTS2 | c.184C>G (p.Pro62Ala) | |
| 7 | g.69599837C>T | CA367703024 | AUTS2 | c.184C>T (p.Pro62Ser) | dbSNP gnomAD v4 |
| 7 | g.69599841dup | CA2832551324 | AUTS2 | c.188dup (p.Ser64ValfsTer26) | |
| 7 | g.69599841del | CA2695207761 | AUTS2 | c.188del (p.Pro63ArgfsTer?) | |
| 7 | g.69599838C>A | CA367703027 | AUTS2 | c.185C>A (p.Pro62His) | |
| 7 | g.69599838C= | CA1715634466 | AUTS2 | c.185C= (p.Pro62=) | |
| 7 | g.69599838C>G | CA367703028 | AUTS2 | c.185C>G (p.Pro62Arg) | |
| 7 | g.69599838C>T | CA4280247 | AUTS2 | c.185C>T (p.Pro62Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599846_69599857dup | CA575784615 | AUTS2 | c.193_204dup (p.Ser68_Arg69insSerAlaProSer) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599839C>A | CA456057794 | AUTS2 | c.186C>A (p.Pro62=) | |
| 7 | g.69599839C= | CA1715634467 | AUTS2 | c.186C= (p.Pro62=) | |
| 7 | g.69599839C>G | CA456057793 | AUTS2 | c.186C>G (p.Pro62=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599839C>T | CA456057795 | AUTS2 | c.186C>T (p.Pro62=) | dbSNP |
| 7 | g.69599840C>A | CA367703029 | AUTS2 | c.187C>A (p.Pro63Thr) | |
| 7 | g.69599840C>G | CA367703030 | AUTS2 | c.187C>G (p.Pro63Ala) | |
| 7 | g.69599840C>T | CA367703031 | AUTS2 | c.187C>T (p.Pro63Ser) | |
| 7 | g.69599841C>A | CA4280248 | AUTS2 | c.188C>A (p.Pro63Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599841C= | CA1715634468 | AUTS2 | c.188C= (p.Pro63=) | |
| 7 | g.69599841C>G | CA4280250 | AUTS2 | c.188C>G (p.Pro63Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599841C>T | CA4280249 | AUTS2 | c.188C>T (p.Pro63Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599842G>A | CA456057798 | AUTS2 | c.189G>A (p.Pro63=) | |
| 7 | g.69599842G>C | CA456057799 | AUTS2 | c.189G>C (p.Pro63=) | |
| 7 | g.69599842G>T | CA456057800 | AUTS2 | c.189G>T (p.Pro63=) | |
| 7 | g.69599843T>A | CA367703032 | AUTS2 | c.190T>A (p.Ser64Thr) | |
| 7 | g.69599843T>C | CA367703033 | AUTS2 | c.190T>C (p.Ser64Pro) | COSMIC COSMIC |
| 7 | g.69599843T>G | CA367703034 | AUTS2 | c.190T>G (p.Ser64Ala) | |
| 7 | g.69599844C>A | CA367703035 | AUTS2 | c.191C>A (p.Ser64Tyr) | |
| 7 | g.69599844C= | CA1715634469 | AUTS2 | c.191C= (p.Ser64=) | |
| 7 | g.69599844C>G | CA367703036 | AUTS2 | c.191C>G (p.Ser64Cys) | |
| 7 | g.69599844C>T | CA367703037 | AUTS2 | c.191C>T (p.Ser64Phe) | dbSNP gnomAD v4 |
| 7 | g.69599845C>A | CA456057804 | AUTS2 | c.192C>A (p.Ser64=) | |
| 7 | g.69599845C= | CA1715634470 | AUTS2 | c.192C= (p.Ser64=) | |
| 7 | g.69599845C>G | CA4280251 | AUTS2 | c.192C>G (p.Ser64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599845C>T | CA456057805 | AUTS2 | c.192C>T (p.Ser64=) | gnomAD v4 |
| 7 | g.69599846T>A | CA367703038 | AUTS2 | c.193T>A (p.Ser65Thr) | |
| 7 | g.69599846T>C | CA367703039 | AUTS2 | c.193T>C (p.Ser65Pro) | |
| 7 | g.69599846T>G | CA367703040 | AUTS2 | c.193T>G (p.Ser65Ala) | |
| 7 | g.69599847C>A | CA367703041 | AUTS2 | c.194C>A (p.Ser65Tyr) | |
| 7 | g.69599847C>G | CA367703042 | AUTS2 | c.194C>G (p.Ser65Cys) | |
| 7 | g.69599847C>T | CA367703043 | AUTS2 | c.194C>T (p.Ser65Phe) | |
| 7 | g.69599848C>A | CA456057811 | AUTS2 | c.195C>A (p.Ser65=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599848C= | CA1715634471 | AUTS2 | c.195C= (p.Ser65=) | |
| 7 | g.69599848C>G | CA456057809 | AUTS2 | c.195C>G (p.Ser65=) | |
| 7 | g.69599848C>T | CA456057810 | AUTS2 | c.195C>T (p.Ser65=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599849G>A | CA367703044 | AUTS2 | c.196G>A (p.Ala66Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599849G>C | CA367703045 | AUTS2 | c.196G>C (p.Ala66Pro) | gnomAD v4 |
| 7 | g.69599849G= | CA1715634472 | AUTS2 | c.196G= (p.Ala66=) | |
| 7 | g.69599849G>T | CA367703046 | AUTS2 | c.196G>T (p.Ala66Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599850C>A | CA367703047 | AUTS2 | c.197C>A (p.Ala66Asp) | |
| 7 | g.69599850C>G | CA367703048 | AUTS2 | c.197C>G (p.Ala66Gly) | |
| 7 | g.69599850C>T | CA367703049 | AUTS2 | c.197C>T (p.Ala66Val) | gnomAD v4 |
| 7 | g.69599851C>A | CA456057813 | AUTS2 | c.198C>A (p.Ala66=) | |
| 7 | g.69599851C>G | CA456057815 | AUTS2 | c.198C>G (p.Ala66=) | |
| 7 | g.69599851C>T | CA456057818 | AUTS2 | c.198C>T (p.Ala66=) | |
| 7 | g.69599852C>A | CA367703051 | AUTS2 | c.199C>A (p.Pro67Thr) | |
| 7 | g.69599852C>G | CA367703052 | AUTS2 | c.199C>G (p.Pro67Ala) | |
| 7 | g.69599852C>T | CA367703050 | AUTS2 | c.199C>T (p.Pro67Ser) | gnomAD v4 COSMIC COSMIC |
| 7 | g.69599853C>A | CA367703053 | AUTS2 | c.200C>A (p.Pro67Gln) | gnomAD v4 |
| 7 | g.69599853C= | CA1715634473 | AUTS2 | c.200C= (p.Pro67=) | |
| 7 | g.69599853C>G | CA4280252 | AUTS2 | c.200C>G (p.Pro67Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599853C>T | CA367703054 | AUTS2 | c.200C>T (p.Pro67Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.69599854G>A | CA456057823 | AUTS2 | c.201G>A (p.Pro67=) | |
| 7 | g.69599854G>C | CA456057822 | AUTS2 | c.201G>C (p.Pro67=) | |
| 7 | g.69599854G= | CA1715634474 | AUTS2 | c.201G= (p.Pro67=) | |
| 7 | g.69599854G>T | CA160529085 | AUTS2 | c.201G>T (p.Pro67=) | dbSNP gnomAD v4 |
| 7 | g.69599855T>A | CA367703055 | AUTS2 | c.202T>A (p.Ser68Thr) | |
| 7 | g.69599855T>C | CA367703056 | AUTS2 | c.202T>C (p.Ser68Pro) | gnomAD v4 |
| 7 | g.69599855T>G | CA367703057 | AUTS2 | c.202T>G (p.Ser68Ala) | |
| 7 | g.69599856C>A | CA367703060 | AUTS2 | c.203C>A (p.Ser68Tyr) | |
| 7 | g.69599856C= | CA1715634475 | AUTS2 | c.203C= (p.Ser68=) | |
| 7 | g.69599856C>G | CA367703058 | AUTS2 | c.203C>G (p.Ser68Cys) | ClinVar dbSNP |
| 7 | g.69599856C>T | CA367703059 | AUTS2 | c.203C>T (p.Ser68Phe) | gnomAD v4 |
| 7 | g.69599857C>A | CA456057827 | AUTS2 | c.204C>A (p.Ser68=) | |
| 7 | g.69599857C= | CA1715634476 | AUTS2 | c.204C= (p.Ser68=) | |
| 7 | g.69599857C>G | CA456057828 | AUTS2 | c.204C>G (p.Ser68=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599857C>T | CA456057829 | AUTS2 | c.204C>T (p.Ser68=) | |
| 7 | g.69599858C>A | CA456057833 | AUTS2 | c.205C>A (p.Arg69=) | gnomAD v4 |
| 7 | g.69599858C= | CA1715634477 | AUTS2 | c.205C= (p.Arg69=) | |
| 7 | g.69599858C>G | CA160529086 | AUTS2 | c.205C>G (p.Arg69Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599858C>T | CA367703061 | AUTS2 | c.205C>T (p.Arg69Trp) | ClinVar gnomAD v4 COSMIC COSMIC |
| 7 | g.69599859G>A | CA367703062 | AUTS2 | c.206G>A (p.Arg69Gln) | dbSNP COSMIC COSMIC |
| 7 | g.69599859G>C | CA367703063 | AUTS2 | c.206G>C (p.Arg69Pro) | |
| 7 | g.69599859G= | CA1715634478 | AUTS2 | c.206G= (p.Arg69=) | |
| 7 | g.69599859G>T | CA367703064 | AUTS2 | c.206G>T (p.Arg69Leu) | |
| 7 | g.69599860G>A | CA456057834 | AUTS2 | c.207G>A (p.Arg69=) | |
| 7 | g.69599860G>C | CA456057835 | AUTS2 | c.207G>C (p.Arg69=) | |
| 7 | g.69599860G= | CA1715634479 | AUTS2 | c.207G= (p.Arg69=) | |
| 7 | g.69599860G>T | CA456057836 | AUTS2 | c.207G>T (p.Arg69=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599861C>A | CA367703065 | AUTS2 | c.208C>A (p.Pro70Thr) | |
| 7 | g.69599861C>G | CA367703067 | AUTS2 | c.208C>G (p.Pro70Ala) | |
| 7 | g.69599861C>T | CA367703066 | AUTS2 | c.208C>T (p.Pro70Ser) | gnomAD v4 |
| 7 | g.69599862C>A | CA367703068 | AUTS2 | c.209C>A (p.Pro70His) | |
| 7 | g.69599862C>G | CA367703069 | AUTS2 | c.209C>G (p.Pro70Arg) | |
| 7 | g.69599862C>T | CA367703070 | AUTS2 | c.209C>T (p.Pro70Leu) | |
| 7 | g.69599863C>A | CA456057841 | AUTS2 | c.210C>A (p.Pro70=) | |
| 7 | g.69599863C= | CA1715634480 | AUTS2 | c.210C= (p.Pro70=) | |
| 7 | g.69599863C>G | CA456057840 | AUTS2 | c.210C>G (p.Pro70=) | |
| 7 | g.69599863C>T | CA4280253 | AUTS2 | c.210C>T (p.Pro70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599864A>C | CA456057843 | AUTS2 | c.211A>C (p.Arg71=) | |
| 7 | g.69599864A>G | CA367703071 | AUTS2 | c.211A>G (p.Arg71Gly) | gnomAD v4 |
| 7 | g.69599864A>T | CA367703072 | AUTS2 | c.211A>T (p.Arg71Ter) | |
| 7 | g.69599865G>A | CA367703073 | AUTS2 | c.212G>A (p.Arg71Lys) | |
| 7 | g.69599865G>C | CA367703074 | AUTS2 | c.212G>C (p.Arg71Thr) | |
| 7 | g.69599865G>T | CA367703075 | AUTS2 | c.212G>T (p.Arg71Ile) | |
| 7 | g.69599866A>C | CA367703076 | AUTS2 | c.213A>C (p.Arg71Ser) | |
| 7 | g.69599866A>G | CA456057844 | AUTS2 | c.213A>G (p.Arg71=) | |
| 7 | g.69599866A>T | CA367703077 | AUTS2 | c.213A>T (p.Arg71Ser) | |
| 7 | g.69599866_69599867delinsAC | CA1715634481 | AUTS2 | c.213_214delinsAC (p.Arg71=) | |
| 7 | g.69599867C>A | CA367703078 | AUTS2 | c.214C>A (p.Pro72Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599867C= | CA1715634482 | AUTS2 | c.214C= (p.Pro72=) | |
| 7 | g.69599867C>G | CA367703080 | AUTS2 | c.214C>G (p.Pro72Ala) | gnomAD v4 |
| 7 | g.69599867C>T | CA367703079 | AUTS2 | c.214C>T (p.Pro72Ser) | gnomAD v4 |
| 7 | g.69599871del | CA918035678 | AUTS2 | c.218del (p.Pro73ArgfsTer21) | ClinVar dbSNP |
| 7 | g.69599868C>A | CA367703081 | AUTS2 | c.215C>A (p.Pro72His) | |
| 7 | g.69599868C>G | CA367703083 | AUTS2 | c.215C>G (p.Pro72Arg) | |
| 7 | g.69599868C>T | CA367703082 | AUTS2 | c.215C>T (p.Pro72Leu) | gnomAD v4 |
| 7 | g.69599869C>A | CA456057847 | AUTS2 | c.216C>A (p.Pro72=) | dbSNP gnomAD v2 |
| 7 | g.69599869C= | CA1715634483 | AUTS2 | c.216C= (p.Pro72=) | |
| 7 | g.69599869C>G | CA456057848 | AUTS2 | c.216C>G (p.Pro72=) | gnomAD v4 |
| 7 | g.69599869C>T | CA456057850 | AUTS2 | c.216C>T (p.Pro72=) | |
| 7 | g.69599870C>A | CA367703084 | AUTS2 | c.217C>A (p.Pro73Thr) | COSMIC COSMIC |
| 7 | g.69599870C>G | CA367703085 | AUTS2 | c.217C>G (p.Pro73Ala) | |
| 7 | g.69599870C>T | CA367703086 | AUTS2 | c.217C>T (p.Pro73Ser) | |
| 7 | g.69599871C>A | CA367703087 | AUTS2 | c.218C>A (p.Pro73Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.69599871C= | CA1715634484 | AUTS2 | c.218C= (p.Pro73=) | |
| 7 | g.69599871C>G | CA367703088 | AUTS2 | c.218C>G (p.Pro73Arg) | |
| 7 | g.69599871C>T | CA367703089 | AUTS2 | c.218C>T (p.Pro73Leu) | |
| 7 | g.69599872G>A | CA456057856 | AUTS2 | c.219G>A (p.Pro73=) | gnomAD v4 COSMIC COSMIC |
| 7 | g.69599872G>C | CA456057855 | AUTS2 | c.219G>C (p.Pro73=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599872G= | CA1715634485 | AUTS2 | c.219G= (p.Pro73=) | |
| 7 | g.69599872G>T | CA456057853 | AUTS2 | c.219G>T (p.Pro73=) | |
| 7 | g.69599873C>A | CA456057857 | AUTS2 | c.220C>A (p.Arg74=) | |
| 7 | g.69599873C>G | CA367703090 | AUTS2 | c.220C>G (p.Arg74Gly) | |
| 7 | g.69599873C>T | CA367703091 | AUTS2 | c.220C>T (p.Arg74Trp) | COSMIC |
| 7 | g.69599874G>A | CA367703092 | AUTS2 | c.221G>A (p.Arg74Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.69599874G>C | CA367703093 | AUTS2 | c.221G>C (p.Arg74Pro) | |
| 7 | g.69599874G= | CA1715634486 | AUTS2 | c.221G= (p.Arg74=) | |
| 7 | g.69599874G>T | CA367703094 | AUTS2 | c.221G>T (p.Arg74Leu) | COSMIC COSMIC |
| 7 | g.69599875G>A | CA456057858 | AUTS2 | c.222G>A (p.Arg74=) c.1G>A | |
| 7 | g.69599875G>C | CA456057859 | AUTS2 | c.222G>C (p.Arg74=) c.1G>C | |
| 7 | g.69599875G>T | CA456057861 | AUTS2 | c.222G>T (p.Arg74=) c.1G>T | |
| 7 | g.69599876A>C | CA456057864 | AUTS2 | c.223A>C (p.Arg75=) c.2A>C | |
| 7 | g.69599876A>G | CA367703095 | AUTS2 | c.223A>G (p.Arg75Gly) c.2A>G | |
| 7 | g.69599876A>T | CA367703096 | AUTS2 | c.223A>T (p.Arg75Trp) c.2A>T | |
| 7 | g.69599877G>A | CA367703097 | AUTS2 | c.224G>A (p.Arg75Lys) c.3G>A | |
| 7 | g.69599877G>C | CA367703099 | AUTS2 | c.224G>C (p.Arg75Thr) c.3G>C | ClinVar dbSNP |
| 7 | g.69599877G>T | CA367703098 | AUTS2 | c.224G>T (p.Arg75Met) c.3G>T | |
| 7 | g.69599878G>A | CA456057866 | AUTS2 | c.225G>A (p.Arg75=) c.4G>A | gnomAD v4 |
| 7 | g.69599878G>C | CA367703100 | AUTS2 | c.225G>C (p.Arg75Ser) c.4G>C | |
| 7 | g.69599878G>T | CA367703101 | AUTS2 | c.225G>T (p.Arg75Ser) c.4G>T | |
| 7 | g.69599879A>C | CA367703102 | AUTS2 | c.226A>C (p.Lys76Gln) c.5A>C | |
| 7 | g.69599879A>G | CA367703103 | AUTS2 | c.226A>G (p.Lys76Glu) c.5A>G | |
| 7 | g.69599879A>T | CA367703104 | AUTS2 | c.226A>T (p.Lys76Ter) c.5A>T | |
| 7 | g.69599880A>C | CA367703105 | AUTS2 | c.227A>C (p.Lys76Thr) c.6A>C | |
| 7 | g.69599880A>G | CA367703106 | AUTS2 | c.227A>G (p.Lys76Arg) c.6A>G | dbSNP gnomAD v4 |
| 7 | g.69599880A>T | CA367703107 | AUTS2 | c.227A>T (p.Lys76Met) c.6A>T | |
| 7 | g.69599881G>A | CA4280254 | AUTS2 | c.228G>A (p.Lys76=) c.7G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.69599881G>C | CA367703108 | AUTS2 | c.228G>C (p.Lys76Asn) c.7G>C | |
| 7 | g.69599881G= | CA1715634487 | AUTS2 | c.228G= (p.Lys76=) c.7G= | |
| 7 | g.69599881G>T | CA367703109 | AUTS2 | c.228G>T (p.Lys76Asn) c.7G>T | |
| 7 | g.69599882C>A | CA456057870 | AUTS2 | c.229C>A (p.Arg77=) c.8C>A | |
| 7 | g.69599882C>G | CA367703111 | AUTS2 | c.229C>G (p.Arg77Gly) c.8C>G | |
| 7 | g.69599882C>T | CA367703110 | AUTS2 | c.229C>T (p.Arg77Trp) c.8C>T | gnomAD v4 |
| 7 | g.69599883G>A | CA367703112 | AUTS2 | c.230G>A (p.Arg77Gln) c.9G>A | dbSNP |
| 7 | g.69599883G>C | CA367703113 | AUTS2 | c.230G>C (p.Arg77Pro) c.9G>C | |
| 7 | g.69599883G= | CA1715634488 | AUTS2 | c.230G= (p.Arg77=) c.9G= | |
| 7 | g.69599883G>T | CA367703114 | AUTS2 | c.230G>T (p.Arg77Leu) c.9G>T | gnomAD v4 |
| 7 | g.69599884G>A | CA456057873 | AUTS2 | c.231G>A (p.Arg77=) c.10G>A | |
| 7 | g.69599884G>C | CA456057871 | AUTS2 | c.231G>C (p.Arg77=) c.10G>C | |
| 7 | g.69599884G>T | CA456057872 | AUTS2 | c.231G>T (p.Arg77=) c.10G>T | |
| 7 | g.69599889_69599890del | CA645558313 | AUTS2 | c.236_237del (p.Glu79ValfsTer10) c.15_16del | COSMIC COSMIC |
| 7 | g.69599885A>C | CA456057874 | AUTS2 | c.232A>C (p.Arg78=) c.11A>C | |
| 7 | g.69599885A>G | CA367703115 | AUTS2 | c.232A>G (p.Arg78Gly) c.11A>G | |
| 7 | g.69599885A>T | CA367703116 | AUTS2 | c.232A>T (p.Arg78Ter) c.11A>T | |
| 7 | g.69599886G>A | CA367703117 | AUTS2 | c.233G>A (p.Arg78Lys) c.12G>A | gnomAD v4 |
| 7 | g.69599886G>C | CA367703118 | AUTS2 | c.233G>C (p.Arg78Thr) c.12G>C | |
| 7 | g.69599886G>T | CA367703119 | AUTS2 | c.233G>T (p.Arg78Ile) c.12G>T | |
| 7 | g.69599887A>C | CA367703120 | AUTS2 | c.234A>C (p.Arg78Ser) c.13A>C | |
| 7 | g.69599887A>G | CA456057875 | AUTS2 | c.234A>G (p.Arg78=) c.13A>G | gnomAD v4 |
| 7 | g.69599887A>T | CA367703121 | AUTS2 | c.234A>T (p.Arg78Ser) c.13A>T | |
| 7 | g.69599888G>A | CA367703122 | AUTS2 | c.235G>A (p.Glu79Lys) c.14G>A | gnomAD v4 |
| 7 | g.69599888G>C | CA367703123 | AUTS2 | c.235G>C (p.Glu79Gln) c.14G>C | |
| 7 | g.69599888G>T | CA367703124 | AUTS2 | c.235G>T (p.Glu79Ter) c.14G>T | |
| 7 | g.69599889A>C | CA367703127 | AUTS2 | c.236A>C (p.Glu79Ala) c.15A>C | |
| 7 | g.69599889A>G | CA367703126 | AUTS2 | c.236A>G (p.Glu79Gly) c.15A>G | |
| 7 | g.69599889A>T | CA367703125 | AUTS2 | c.236A>T (p.Glu79Val) c.15A>T | |
| 7 | g.69599890G>A | CA456057878 | AUTS2 | c.237G>A (p.Glu79=) c.16G>A | |
| 7 | g.69599890G>C | CA367703128 | AUTS2 | c.237G>C (p.Glu79Asp) c.16G>C | |
| 7 | g.69599890G>T | CA367703129 | AUTS2 | c.237G>T (p.Glu79Asp) c.16G>T | |
| 7 | g.69599891T>A | CA367703130 | AUTS2 | c.238T>A (p.Ser80Thr) c.17T>A | |
| 7 | g.69599891T>C | CA367703131 | AUTS2 | c.238T>C (p.Ser80Pro) c.17T>C | |
| 7 | g.69599891T>G | CA367703132 | AUTS2 | c.238T>G (p.Ser80Ala) c.17T>G | |
| 7 | g.69599892C>A | CA367703133 | AUTS2 | c.239C>A (p.Ser80Tyr) c.18C>A | |
| 7 | g.69599892C>G | CA367703134 | AUTS2 | c.239C>G (p.Ser80Cys) c.18C>G | |
| 7 | g.69599892C>T | CA367703135 | AUTS2 | c.239C>T (p.Ser80Phe) c.18C>T | gnomAD v4 |
| 7 | g.69599893C>A | CA456057883 | AUTS2 | c.240C>A (p.Ser80=) c.19C>A | |
| 7 | g.69599893C>G | CA456057881 | AUTS2 | c.240C>G (p.Ser80=) c.19C>G | |
| 7 | g.69599893C>T | CA456057882 | AUTS2 | c.240C>T (p.Ser80=) c.19C>T | |
| 7 | g.69599894A= | CA1715634489 | AUTS2 | c.241A= (p.Thr81=) c.20A= | |
| 7 | g.69599894A>C | CA367703136 | AUTS2 | c.241A>C (p.Thr81Pro) c.20A>C | |
| 7 | g.69599894A>G | CA16605268 | AUTS2 | c.241A>G (p.Thr81Ala) c.20A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.69599894A>T | CA367703137 | AUTS2 | c.241A>T (p.Thr81Ser) c.20A>T | |
| 7 | g.69599895C>A | CA367703138 | AUTS2 | c.242C>A (p.Thr81Asn) c.21C>A | |
| 7 | g.69599895C>G | CA367703139 | AUTS2 | c.242C>G (p.Thr81Ser) c.21C>G | |
| 7 | g.69599895C>T | CA367703140 | AUTS2 | c.242C>T (p.Thr81Ile) c.21C>T | |
| 7 | g.69599896C>A | CA456057890 | AUTS2 | c.243C>A (p.Thr81=) c.22C>A | gnomAD v4 |
| 7 | g.69599896C>G | CA456057891 | AUTS2 | c.243C>G (p.Thr81=) c.22C>G | |
| 7 | g.69599896C>T | CA456057892 | AUTS2 | c.243C>T (p.Thr81=) c.22C>T | gnomAD v4 |
| 7 | g.69599897T>A | CA367703143 | AUTS2 | c.244T>A (p.Ser82Thr) c.23T>A | |
| 7 | g.69599897T>C | CA367703142 | AUTS2 | c.244T>C (p.Ser82Pro) c.23T>C | |
| 7 | g.69599897T>G | CA367703141 | AUTS2 | c.244T>G (p.Ser82Ala) c.23T>G | |
| 7 | g.69599898C>A | CA367703144 | AUTS2 | c.245C>A (p.Ser82Ter) c.24C>A | |
| 7 | g.69599898C>G | CA367703145 | AUTS2 | c.245C>G (p.Ser82Trp) c.24C>G | ClinVar |
| 7 | g.69599898C>T | CA367703146 | AUTS2 | c.245C>T (p.Ser82Leu) c.24C>T | dbSNP gnomAD v4 |
| 7 | g.69599899G>A | CA456057894 | AUTS2 | c.246G>A (p.Ser82=) c.25G>A | |
| 7 | g.69599899G>C | CA456057895 | AUTS2 | c.246G>C (p.Ser82=) c.25G>C | gnomAD v4 |
| 7 | g.69599899G= | CA1715634490 | AUTS2 | c.246G= (p.Ser82=) c.25G= | |
| 7 | g.69599899G>T | CA456057896 | AUTS2 | c.246G>T (p.Ser82=) c.25G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.69599900G>A | CA367703147 | AUTS2 | c.247G>A (p.Ala83Thr) c.26G>A | gnomAD v4 |
| 7 | g.69599900G>C | CA367703148 | AUTS2 | c.247G>C (p.Ala83Pro) c.26G>C | |
| 7 | g.69599900G>T | CA367703149 | AUTS2 | c.247G>T (p.Ala83Ser) c.26G>T | |
| 7 | g.69599901C>A | CA367703150 | AUTS2 | c.248C>A (p.Ala83Glu) c.27C>A | |
| 7 | g.69599901C>G | CA367703151 | AUTS2 | c.248C>G (p.Ala83Gly) c.27C>G | |
| 7 | g.69599901C>T | CA367703152 | AUTS2 | c.248C>T (p.Ala83Val) c.27C>T | |
| 7 | g.69599902A= | CA1715634491 | AUTS2 | c.249A= (p.Ala83=) c.28A= | |
| 7 | g.69599902A>C | CA456057900 | AUTS2 | c.249A>C (p.Ala83=) c.28A>C | |
| 7 | g.69599902A>G | CA4280255 | AUTS2 | c.249A>G (p.Ala83=) c.28A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.69599902A>T | CA456057901 | AUTS2 | c.249A>T (p.Ala83=) c.28A>T |