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 |
|---|---|---|---|---|---|
| 17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
| 17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
| 17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
| 17 | g.80112013_80112015del | CA2640291760 | GAA | c.1667_1669del (p.Thr556del) c.55_57del n.281_283del | gnomAD v4 |
| 17 | g.80112015A= | CA2277814743 | GAA | c.1669A= (p.Ile557=) c.57A= n.283A= | |
| 17 | g.80112015A>C | CA401368908 | GAA | c.1669A>C (p.Ile557Leu) c.57A>C n.283A>C | |
| 17 | g.80112015A>G | CA8815433 | GAA | c.1669A>G (p.Ile557Val) c.57A>G n.283A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112015A>T | CA401368911 | GAA | c.1669A>T (p.Ile557Phe) c.57A>T n.283A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112016T>A | CA401368915 | GAA | c.1670T>A (p.Ile557Asn) c.58T>A n.284T>A | |
| 17 | g.80112016T>C | CA401368917 | GAA | c.1670T>C (p.Ile557Thr) c.58T>C n.284T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112016T>G | CA401368920 | GAA | c.1670T>G (p.Ile557Ser) c.58T>G n.284T>G | ClinVar dbSNP |
| 17 | g.80112016T= | CA2277814744 | GAA | c.1670T= (p.Ile557=) c.58T= n.284T= | |
| 17 | g.80112017C>A | CA502178876 | GAA | c.1671C>A (p.Ile557=) c.59C>A n.285C>A | ClinVar |
| 17 | g.80112017C= | CA2277814745 | GAA | c.1671C= (p.Ile557=) c.59C= n.285C= | |
| 17 | g.80112017C>G | CA401368924 | GAA | c.1671C>G (p.Ile557Met) c.59C>G n.285C>G | dbSNP |
| 17 | g.80112017C>T | CA502178877 | GAA | c.1671C>T (p.Ile557=) c.59C>T n.285C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112018T>A | CA401368926 | GAA | c.1672T>A (p.Cys558Ser) c.60T>A n.286T>A | |
| 17 | g.80112018T>C | CA401368928 | GAA | c.1672T>C (p.Cys558Arg) c.60T>C n.286T>C | |
| 17 | g.80112018T>G | CA401368930 | GAA | c.1672T>G (p.Cys558Gly) c.60T>G n.286T>G | |
| 17 | g.80112020_80112021del | CA2580612682 | GAA | c.1674_1675del (p.Ala559LeufsTer?) c.62_63del n.288_289del | ClinVar dbSNP |
| 17 | g.80112019G>A | CA401368933 | GAA | c.1673G>A (p.Cys558Tyr) c.61G>A n.287G>A | ClinVar gnomAD v4 |
| 17 | g.80112019G>C | CA401368935 | GAA | c.1673G>C (p.Cys558Ser) c.61G>C n.287G>C | |
| 17 | g.80112019G>T | CA401368938 | GAA | c.1673G>T (p.Cys558Phe) c.61G>T n.287G>T | |
| 17 | g.80112020T>A | CA401368942 | GAA | c.1674T>A (p.Cys558Ter) c.62T>A n.288T>A | |
| 17 | g.80112020T>C | CA502178879 | GAA | c.1674T>C (p.Cys558=) c.62T>C n.288T>C | ClinVar dbSNP |
| 17 | g.80112020T>G | CA401368944 | GAA | c.1674T>G (p.Cys558Trp) c.62T>G n.288T>G | |
| 17 | g.80112021G>A | CA401368947 | GAA | c.1675G>A (p.Ala559Thr) c.63G>A n.289G>A | gnomAD v4 |
| 17 | g.80112021G>C | CA401368952 | GAA | c.1675G>C (p.Ala559Pro) c.63G>C n.289G>C | |
| 17 | g.80112021G>T | CA401368949 | GAA | c.1675G>T (p.Ala559Ser) c.63G>T n.289G>T | gnomAD v4 |
| 17 | g.80112022C>A | CA401368955 | GAA | c.1676C>A (p.Ala559Asp) c.64C>A n.290C>A | |
| 17 | g.80112022C>G | CA401368958 | GAA | c.1676C>G (p.Ala559Gly) c.64C>G n.290C>G | |
| 17 | g.80112022C>T | CA401368960 | GAA | c.1676C>T (p.Ala559Val) c.64C>T n.290C>T | |
| 17 | g.80112023C>A | CA502178880 | GAA | c.1677C>A (p.Ala559=) c.65C>A n.291C>A | |
| 17 | g.80112023C>G | CA502178881 | GAA | c.1677C>G (p.Ala559=) c.65C>G n.291C>G | |
| 17 | g.80112023C>T | CA502178882 | GAA | c.1677C>T (p.Ala559=) c.65C>T n.291C>T | |
| 17 | g.80112024T>A | CA401368964 | GAA | c.1678T>A (p.Ser560Thr) c.66T>A n.292T>A | |
| 17 | g.80112024T>C | CA401368966 | GAA | c.1678T>C (p.Ser560Pro) c.66T>C n.292T>C | |
| 17 | g.80112024T>G | CA401368969 | GAA | c.1678T>G (p.Ser560Ala) c.66T>G n.292T>G | |
| 17 | g.80112025C>A | CA401368972 | GAA | c.1679C>A (p.Ser560Tyr) c.67C>A n.293C>A | |
| 17 | g.80112025C= | CA2277814746 | GAA | c.1679C= (p.Ser560=) c.67C= n.293C= | |
| 17 | g.80112025C>G | CA401368974 | GAA | c.1679C>G (p.Ser560Cys) c.67C>G n.293C>G | |
| 17 | g.80112025C>T | CA8815434 | GAA | c.1679C>T (p.Ser560Phe) c.67C>T n.293C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112026C>A | CA502178884 | GAA | c.1680C>A (p.Ser560=) c.68C>A n.294C>A | |
| 17 | g.80112026C= | CA2277814747 | GAA | c.1680C= (p.Ser560=) c.68C= n.294C= | |
| 17 | g.80112026C>G | CA502178885 | GAA | c.1680C>G (p.Ser560=) c.68C>G n.294C>G | |
| 17 | g.80112026C>T | CA502178886 | GAA | c.1680C>T (p.Ser560=) c.68C>T n.294C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112027A>C | CA401368977 | GAA | c.1681A>C (p.Ser561Arg) c.69A>C n.295A>C | |
| 17 | g.80112027A>G | CA401368976 | GAA | c.1681A>G (p.Ser561Gly) c.69A>G n.295A>G | |
| 17 | g.80112027A>T | CA401368975 | GAA | c.1681A>T (p.Ser561Cys) c.69A>T n.295A>T | |
| 17 | g.80112027_80112045dup | CA919905205 | GAA | c.1681_1699dup (p.Thr567LysfsTer?) c.69_87dup n.295_313dup | dbSNP |
| 17 | g.80112028G>A | CA401368978 | GAA | c.1682G>A (p.Ser561Asn) c.70G>A n.296G>A | |
| 17 | g.80112028G>C | CA401368979 | GAA | c.1682G>C (p.Ser561Thr) c.70G>C n.296G>C | |
| 17 | g.80112028G>T | CA401368980 | GAA | c.1682G>T (p.Ser561Ile) c.70G>T n.296G>T | |
| 17 | g.80112029C>A | CA401368981 | GAA | c.1683C>A (p.Ser561Arg) c.71C>A n.297C>A | |
| 17 | g.80112029C>G | CA401368982 | GAA | c.1683C>G (p.Ser561Arg) c.71C>G n.297C>G | |
| 17 | g.80112029C>T | CA502178887 | GAA | c.1683C>T (p.Ser561=) c.71C>T n.297C>T | ClinVar dbSNP |
| 17 | g.80112030_80112033dup | CA2695227100 | GAA | c.1684_1687dup (p.Gln563ProfsTer?) c.72_75dup n.298_301dup | |
| 17 | g.80112030C>A | CA401368983 | GAA | c.1684C>A (p.His562Asn) c.72C>A n.298C>A | |
| 17 | g.80112030C>G | CA401368984 | GAA | c.1684C>G (p.His562Asp) c.72C>G n.298C>G | |
| 17 | g.80112030C>T | CA401368985 | GAA | c.1684C>T (p.His562Tyr) c.72C>T n.298C>T | |
| 17 | g.80112031A>C | CA401368986 | GAA | c.1685A>C (p.His562Pro) c.73A>C n.299A>C | gnomAD v4 |
| 17 | g.80112031A>G | CA401368987 | GAA | c.1685A>G (p.His562Arg) c.73A>G n.299A>G | |
| 17 | g.80112031A>T | CA401368988 | GAA | c.1685A>T (p.His562Leu) c.73A>T n.299A>T | |
| 17 | g.80112032C>A | CA401368989 | GAA | c.1686C>A (p.His562Gln) c.74C>A n.300C>A | |
| 17 | g.80112032C= | CA2277814748 | GAA | c.1686C= (p.His562=) c.74C= n.300C= | |
| 17 | g.80112032C>G | CA401368990 | GAA | c.1686C>G (p.His562Gln) c.74C>G n.300C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112032C>T | CA502178889 | GAA | c.1686C>T (p.His562=) c.74C>T n.300C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112033C>A | CA401368991 | GAA | c.1687C>A (p.Gln563Lys) c.75C>A n.301C>A | |
| 17 | g.80112033C= | CA2277814749 | GAA | c.1687C= (p.Gln563=) c.75C= n.301C= | |
| 17 | g.80112033C>G | CA401368992 | GAA | c.1687C>G (p.Gln563Glu) c.75C>G n.301C>G | gnomAD v4 |
| 17 | g.80112033C>T | CA16041895 | GAA | c.1687C>T (p.Gln563Ter) c.75C>T n.301C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112034A= | CA2277814750 | GAA | c.1688A= (p.Gln563=) c.76A= n.302A= | |
| 17 | g.80112034A>C | CA401368993 | GAA | c.1688A>C (p.Gln563Pro) c.76A>C n.302A>C | |
| 17 | g.80112034A>G | CA401368994 | GAA | c.1688A>G (p.Gln563Arg) c.76A>G n.302A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112034A>T | CA401368995 | GAA | c.1688A>T (p.Gln563Leu) c.76A>T n.302A>T | |
| 17 | g.80112035G>A | CA502178890 | GAA | c.1689G>A (p.Gln563=) c.77G>A n.303G>A | dbSNP gnomAD v2 |
| 17 | g.80112035G>C | CA401368996 | GAA | c.1689G>C (p.Gln563His) c.77G>C n.303G>C | |
| 17 | g.80112035G= | CA2277814751 | GAA | c.1689G= (p.Gln563=) c.77G= n.303G= | |
| 17 | g.80112035G>T | CA401368997 | GAA | c.1689G>T (p.Gln563His) c.77G>T n.303G>T | |
| 17 | g.80112035_80112036delinsGT | CA2277814752 | GAA | c.1689_1690delinsGT (p.Gln563=) c.77_78delinsGT n.303_304delinsGT | |
| 17 | g.80112036T>A | CA401368998 | GAA | c.1690T>A (p.Phe564Ile) c.78T>A n.304T>A | |
| 17 | g.80112036T>C | CA401368999 | GAA | c.1690T>C (p.Phe564Leu) c.78T>C n.304T>C | |
| 17 | g.80112036T>G | CA401369000 | GAA | c.1690T>G (p.Phe564Val) c.78T>G n.304T>G | |
| 17 | g.80112038del | CA658798979 | GAA | c.1692del (p.Leu565SerfsTer13) c.80del n.306del | ClinVar dbSNP |
| 17 | g.80112037T>A | CA401369001 | GAA | c.1691T>A (p.Phe564Tyr) c.79T>A n.305T>A | |
| 17 | g.80112037T>C | CA401369002 | GAA | c.1691T>C (p.Phe564Ser) c.79T>C n.305T>C | |
| 17 | g.80112037T>G | CA401369003 | GAA | c.1691T>G (p.Phe564Cys) c.79T>G n.305T>G | |
| 17 | g.80112038T>A | CA401369004 | GAA | c.1692T>A (p.Phe564Leu) c.80T>A n.306T>A | |
| 17 | g.80112038T>C | CA502178892 | GAA | c.1692T>C (p.Phe564=) c.80T>C n.306T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112038T>G | CA10606210 | GAA | c.1692T>G (p.Phe564Leu) c.80T>G n.306T>G | ClinVar dbSNP |
| 17 | g.80112038T= | CA2277814753 | GAA | c.1692T= (p.Phe564=) c.80T= n.306T= | |
| 17 | g.80112040_80112043del | CA658795263 | GAA | c.1694_1697del (p.Leu565ProfsTer12) c.82_85del n.308_311del | ClinVar |
| 17 | g.80112039C>A | CA401369005 | GAA | c.1693C>A (p.Leu565Ile) c.81C>A n.307C>A | |
| 17 | g.80112039C>G | CA401369006 | GAA | c.1693C>G (p.Leu565Val) c.81C>G n.307C>G | |
| 17 | g.80112039C>T | CA401369007 | GAA | c.1693C>T (p.Leu565Phe) c.81C>T n.307C>T | ClinVar COSMIC |
| 17 | g.80112040T>A | CA401369008 | GAA | c.1694T>A (p.Leu565His) c.82T>A n.308T>A | |
| 17 | g.80112040T>C | CA401369009 | GAA | c.1694T>C (p.Leu565Pro) c.82T>C n.308T>C | gnomAD v4 |
| 17 | g.80112040T>G | CA401369010 | GAA | c.1694T>G (p.Leu565Arg) c.82T>G n.308T>G | |
| 17 | g.80112041C>A | CA502178896 | GAA | c.1695C>A (p.Leu565=) c.83C>A n.309C>A | |
| 17 | g.80112041C>G | CA502178895 | GAA | c.1695C>G (p.Leu565=) c.83C>G n.309C>G | ClinVar dbSNP |
| 17 | g.80112041C>T | CA502178894 | GAA | c.1695C>T (p.Leu565=) c.83C>T n.309C>T | |
| 17 | g.80112042T>A | CA401369013 | GAA | c.1696T>A (p.Ser566Thr) c.84T>A n.310T>A | |
| 17 | g.80112042T>C | CA401369012 | GAA | c.1696T>C (p.Ser566Pro) c.84T>C n.310T>C | |
| 17 | g.80112042T>G | CA401369011 | GAA | c.1696T>G (p.Ser566Ala) c.84T>G n.310T>G | gnomAD v4 |
| 17 | g.80112043C>A | CA401369014 | GAA | c.1697C>A (p.Ser566Tyr) c.85C>A n.311C>A | dbSNP |
| 17 | g.80112043C= | CA2277814754 | GAA | c.1697C= (p.Ser566=) c.85C= n.311C= | |
| 17 | g.80112043C>G | CA401369015 | GAA | c.1697C>G (p.Ser566Cys) c.85C>G n.311C>G | gnomAD v4 |
| 17 | g.80112043C>T | CA401369016 | GAA | c.1697C>T (p.Ser566Phe) c.85C>T n.311C>T | ClinVar |
| 17 | g.80112044C>A | CA502178897 | GAA | c.1698C>A (p.Ser566=) c.86C>A n.312C>A | |
| 17 | g.80112044C= | CA2277814755 | GAA | c.1698C= (p.Ser566=) c.86C= n.312C= | |
| 17 | g.80112044C>G | CA502178898 | GAA | c.1698C>G (p.Ser566=) c.86C>G n.312C>G | |
| 17 | g.80112044C>T | CA294895791 | GAA | c.1698C>T (p.Ser566=) c.86C>T n.312C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112045A= | CA2277814756 | GAA | c.1699A= (p.Thr567=) c.87A= n.313A= | |
| 17 | g.80112045A>C | CA294895795 | GAA | c.1699A>C (p.Thr567Pro) c.87A>C n.313A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112045A>G | CA401369017 | GAA | c.1699A>G (p.Thr567Ala) c.87A>G n.313A>G | |
| 17 | g.80112045A>T | CA401369018 | GAA | c.1699A>T (p.Thr567Ser) c.87A>T n.313A>T | |
| 17 | g.80112046C>A | CA401369019 | GAA | c.1700C>A (p.Thr567Lys) c.88C>A n.314C>A | |
| 17 | g.80112046C>G | CA401369021 | GAA | c.1700C>G (p.Thr567Arg) c.88C>G n.314C>G | |
| 17 | g.80112046C>T | CA401369020 | GAA | c.1700C>T (p.Thr567Ile) c.88C>T n.314C>T | |
| 17 | g.80112047A>C | CA502178900 | GAA | c.1701A>C (p.Thr567=) c.89A>C n.315A>C | |
| 17 | g.80112047A>G | CA502178901 | GAA | c.1701A>G (p.Thr567=) c.89A>G n.315A>G | |
| 17 | g.80112047A>T | CA502178902 | GAA | c.1701A>T (p.Thr567=) c.89A>T n.315A>T | |
| 17 | g.80112048C>A | CA401369022 | GAA | c.1702C>A (p.His568Asn) c.90C>A n.316C>A | |
| 17 | g.80112048C>G | CA401369023 | GAA | c.1702C>G (p.His568Asp) c.90C>G n.316C>G | |
| 17 | g.80112048C>T | CA401369024 | GAA | c.1702C>T (p.His568Tyr) c.90C>T n.316C>T | gnomAD v4 |
| 17 | g.80112049A>C | CA401369025 | GAA | c.1703A>C (p.His568Pro) c.91A>C n.317A>C | gnomAD v4 |
| 17 | g.80112049A>G | CA401369026 | GAA | c.1703A>G (p.His568Arg) c.91A>G n.317A>G | |
| 17 | g.80112049A>T | CA401369027 | GAA | c.1703A>T (p.His568Leu) c.91A>T n.317A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112050C>A | CA401369028 | GAA | c.1704C>A (p.His568Gln) c.92C>A n.318C>A | |
| 17 | g.80112050C= | CA2277814757 | GAA | c.1704C= (p.His568=) c.92C= n.318C= | |
| 17 | g.80112050C>G | CA401369029 | GAA | c.1704C>G (p.His568Gln) c.92C>G n.318C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112050C>T | CA8815435 | GAA | c.1704C>T (p.His568=) c.92C>T n.318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112050dup | CA2499225014 | GAA | c.1704dup (p.Tyr569LeufsTer?) c.92dup n.318dup | ClinVar dbSNP |
| 17 | g.80112051T>A | CA401369030 | GAA | c.1705T>A (p.Tyr569Asn) c.93T>A n.319T>A | |
| 17 | g.80112051T>C | CA8815436 | GAA | c.1705T>C (p.Tyr569His) c.93T>C n.319T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112051T>G | CA401369031 | GAA | c.1705T>G (p.Tyr569Asp) c.93T>G n.319T>G | |
| 17 | g.80112051T= | CA2277814758 | GAA | c.1705T= (p.Tyr569=) c.93T= n.319T= | |
| 17 | g.80112051dup | CA658795264 | GAA | c.1705dup (p.Tyr569LeufsTer?) c.93dup n.319dup | ClinVar dbSNP |
| 17 | g.80112052A>C | CA401369032 | GAA | c.1706A>C (p.Tyr569Ser) c.94A>C n.320A>C | |
| 17 | g.80112052A>G | CA401369034 | GAA | c.1706A>G (p.Tyr569Cys) c.94A>G n.320A>G | ClinVar gnomAD v4 |
| 17 | g.80112052A>T | CA401369033 | GAA | c.1706A>T (p.Tyr569Phe) c.94A>T n.320A>T | |
| 17 | g.80112053C>A | CA401369035 | GAA | c.1707C>A (p.Tyr569Ter) c.95C>A n.321C>A | |
| 17 | g.80112053C>G | CA401369036 | GAA | c.1707C>G (p.Tyr569Ter) c.95C>G n.321C>G | |
| 17 | g.80112053C>T | CA502178906 | GAA | c.1707C>T (p.Tyr569=) c.95C>T n.321C>T | |
| 17 | g.80112054A= | CA2277814759 | GAA | c.1708A= (p.Asn570=) c.96A= n.322A= | |
| 17 | g.80112054A>C | CA401369037 | GAA | c.1708A>C (p.Asn570His) c.96A>C n.322A>C | gnomAD v4 |
| 17 | g.80112054A>G | CA401369038 | GAA | c.1708A>G (p.Asn570Asp) c.96A>G n.322A>G | |
| 17 | g.80112054A>T | CA401369039 | GAA | c.1708A>T (p.Asn570Tyr) c.96A>T n.322A>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112055A>C | CA401369040 | GAA | c.1709A>C (p.Asn570Thr) c.97A>C n.323A>C | |
| 17 | g.80112055A>G | CA401369041 | GAA | c.1709A>G (p.Asn570Ser) c.97A>G n.323A>G | ClinVar |
| 17 | g.80112055A>T | CA401369042 | GAA | c.1709A>T (p.Asn570Ile) c.97A>T n.323A>T | |
| 17 | g.80112056C>A | CA401369043 | GAA | c.1710C>A (p.Asn570Lys) c.98C>A n.324C>A | |
| 17 | g.80112056C= | CA2277814760 | GAA | c.1710C= (p.Asn570=) c.98C= n.324C= | |
| 17 | g.80112056C>G | CA401369044 | GAA | c.1710C>G (p.Asn570Lys) c.98C>G n.324C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112056C>T | CA8815437 | GAA | c.1710C>T (p.Asn570=) c.98C>T n.324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112057C>A | CA401369045 | GAA | c.1711C>A (p.Leu571Met) c.99C>A n.325C>A | |
| 17 | g.80112057C= | CA2277814761 | GAA | c.1711C= (p.Leu571=) c.99C= n.325C= | |
| 17 | g.80112057C>G | CA401369046 | GAA | c.1711C>G (p.Leu571Val) c.99C>G n.325C>G | ClinVar |
| 17 | g.80112057C>T | CA502178908 | GAA | c.1711C>T (p.Leu571=) c.99C>T n.325C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112058T>A | CA401369048 | GAA | c.1712T>A (p.Leu571Gln) c.100T>A n.326T>A | |
| 17 | g.80112058T>C | CA10604317 | GAA | c.1712T>C (p.Leu571Pro) c.100T>C n.326T>C | ClinVar dbSNP |
| 17 | g.80112058T>G | CA401369047 | GAA | c.1712T>G (p.Leu571Arg) c.100T>G n.326T>G | |
| 17 | g.80112058T= | CA2277814762 | GAA | c.1712T= (p.Leu571=) c.100T= n.326T= | |
| 17 | g.80112059G>A | CA502178909 | GAA | c.1713G>A (p.Leu571=) c.101G>A n.327G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112059G>C | CA502178911 | GAA | c.1713G>C (p.Leu571=) c.101G>C n.327G>C | |
| 17 | g.80112059G= | CA2277814763 | GAA | c.1713G= (p.Leu571=) c.101G= n.327G= | |
| 17 | g.80112059G>T | CA502178912 | GAA | c.1713G>T (p.Leu571=) c.101G>T n.327G>T | |
| 17 | g.80112060C>A | CA401369049 | GAA | c.1714C>A (p.His572Asn) c.102C>A n.328C>A | |
| 17 | g.80112060C>G | CA401369050 | GAA | c.1714C>G (p.His572Asp) c.102C>G n.328C>G | |
| 17 | g.80112060C>T | CA401369051 | GAA | c.1714C>T (p.His572Tyr) c.102C>T n.328C>T | ClinVar |
| 17 | g.80112061A= | CA2277814764 | GAA | c.1715A= (p.His572=) c.103A= n.329A= | |
| 17 | g.80112061A>C | CA401369052 | GAA | c.1715A>C (p.His572Pro) c.103A>C n.329A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112061A>G | CA401369053 | GAA | c.1715A>G (p.His572Arg) c.103A>G n.329A>G | |
| 17 | g.80112061A>T | CA401369054 | GAA | c.1715A>T (p.His572Leu) c.103A>T n.329A>T | |
| 17 | g.80112062C>A | CA8815438 | GAA | c.1716C>A (p.His572Gln) c.104C>A n.330C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112062C= | CA2277814765 | GAA | c.1716C= (p.His572=) c.104C= n.330C= | |
| 17 | g.80112062C>G | CA401369055 | GAA | c.1716C>G (p.His572Gln) c.104C>G n.330C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112062C>T | CA502178915 | GAA | c.1716C>T (p.His572=) c.104C>T n.330C>T | ClinVar dbSNP |
| 17 | g.80112063A>C | CA401369056 | GAA | c.1717A>C (p.Asn573His) c.105A>C n.331A>C | |
| 17 | g.80112063A>G | CA401369057 | GAA | c.1717A>G (p.Asn573Asp) c.105A>G n.331A>G | gnomAD v4 |
| 17 | g.80112063A>T | CA401369058 | GAA | c.1717A>T (p.Asn573Tyr) c.105A>T n.331A>T | |
| 17 | g.80112064A>C | CA401369063 | GAA | c.1718A>C (p.Asn573Thr) c.106A>C n.332A>C | |
| 17 | g.80112064A>G | CA401369061 | GAA | c.1718A>G (p.Asn573Ser) c.106A>G n.332A>G | |
| 17 | g.80112064A>T | CA401369059 | GAA | c.1718A>T (p.Asn573Ile) c.106A>T n.332A>T | |
| 17 | g.80112065C>A | CA401369065 | GAA | c.1719C>A (p.Asn573Lys) c.107C>A n.333C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112065C= | CA2277814766 | GAA | c.1719C= (p.Asn573=) c.107C= n.333C= | |
| 17 | g.80112065C>G | CA401369067 | GAA | c.1719C>G (p.Asn573Lys) c.107C>G n.333C>G | |
| 17 | g.80112065C>T | CA502178917 | GAA | c.1719C>T (p.Asn573=) c.107C>T n.333C>T | ClinVar dbSNP |
| 17 | g.80112066C>A | CA401369069 | GAA | c.1720C>A (p.Leu574Ile) c.108C>A n.334C>A | gnomAD v4 |
| 17 | g.80112066C= | CA2277814767 | GAA | c.1720C= (p.Leu574=) c.108C= n.334C= | |
| 17 | g.80112066C>G | CA401369072 | GAA | c.1720C>G (p.Leu574Val) c.108C>G n.334C>G | gnomAD v4 |
| 17 | g.80112066C>T | CA401369071 | GAA | c.1720C>T (p.Leu574Phe) c.108C>T n.334C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112067T>A | CA401369075 | GAA | c.1721T>A (p.Leu574His) c.109T>A n.335T>A | |
| 17 | g.80112067T>C | CA401369079 | GAA | c.1721T>C (p.Leu574Pro) c.109T>C n.335T>C | ClinVar |
| 17 | g.80112067T>G | CA401369077 | GAA | c.1721T>G (p.Leu574Arg) c.109T>G n.335T>G | |
| 17 | g.80112068C>A | CA502178918 | GAA | c.1722C>A (p.Leu574=) c.110C>A n.336C>A | |
| 17 | g.80112068C= | CA2277814768 | GAA | c.1722C= (p.Leu574=) c.110C= n.336C= | |
| 17 | g.80112068C>G | CA502178919 | GAA | c.1722C>G (p.Leu574=) c.110C>G n.336C>G | dbSNP |
| 17 | g.80112068C>T | CA239730 | GAA | c.1722C>T (p.Leu574=) c.110C>T n.336C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112069T>A | CA401369082 | GAA | c.1723T>A (p.Tyr575Asn) c.111T>A n.337T>A | |
| 17 | g.80112069T>C | CA401369083 | GAA | c.1723T>C (p.Tyr575His) c.111T>C n.337T>C | |
| 17 | g.80112069T>G | CA401369085 | GAA | c.1723T>G (p.Tyr575Asp) c.111T>G n.337T>G | gnomAD v4 |
| 17 | g.80112070A= | CA2277814769 | GAA | c.1724A= (p.Tyr575=) c.112A= n.338A= | |
| 17 | g.80112070A>C | CA401369087 | GAA | c.1724A>C (p.Tyr575Ser) c.112A>C n.338A>C | |
| 17 | g.80112070A>G | CA401369088 | GAA | c.1724A>G (p.Tyr575Cys) c.112A>G n.338A>G | |
| 17 | g.80112070A>T | CA401369090 | GAA | c.1724A>T (p.Tyr575Phe) c.112A>T n.338A>T | ClinVar dbSNP |
| 17 | g.80112071C>A | CA8815439 | GAA | c.1725C>A (p.Tyr575Ter) c.113C>A n.339C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80112071C= | CA2277814770 | GAA | c.1725C= (p.Tyr575=) c.113C= n.339C= | |
| 17 | g.80112071C>G | CA401369093 | GAA | c.1725C>G (p.Tyr575Ter) c.113C>G n.339C>G | |
| 17 | g.80112071C>T | CA8815440 | GAA | c.1725C>T (p.Tyr575=) c.113C>T n.339C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112072G>A | CA145760 | GAA | c.1726G>A (p.Gly576Ser) c.114G>A n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112072G>C | CA401369095 | GAA | c.1726G>C (p.Gly576Arg) c.114G>C n.340G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112072G= | CA2277814771 | GAA | c.1726G= (p.Gly576=) c.114G= n.340G= | |
| 17 | g.80112072G>T | CA401369097 | GAA | c.1726G>T (p.Gly576Cys) c.114G>T n.340G>T | |
| 17 | g.80112073del | CA2695227101 | GAA | c.1727del (p.Gly576AlafsTer2) c.115del n.341del | |
| 17 | g.80112073G>A | CA401369098 | GAA | c.1727G>A (p.Gly576Asp) c.115G>A n.341G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112073G>C | CA401369099 | GAA | c.1727G>C (p.Gly576Ala) c.115G>C n.341G>C | |
| 17 | g.80112073G= | CA2277814772 | GAA | c.1727G= (p.Gly576=) c.115G= n.341G= | |
| 17 | g.80112073G>T | CA401369100 | GAA | c.1727G>T (p.Gly576Val) c.115G>T n.341G>T | |
| 17 | g.80112074C>A | CA502178925 | GAA | c.1728C>A (p.Gly576=) c.116C>A n.342C>A | |
| 17 | g.80112074C>G | CA502178926 | GAA | c.1728C>G (p.Gly576=) c.116C>G n.342C>G | ClinVar dbSNP |
| 17 | g.80112074C>T | CA502178927 | GAA | c.1728C>T (p.Gly576=) c.116C>T n.342C>T | ClinVar |
| 17 | g.80112075C>A | CA401369102 | GAA | c.1729C>A (p.Leu577Met) c.117C>A n.343C>A | |
| 17 | g.80112075C= | CA2277814773 | GAA | c.1729C= (p.Leu577=) c.117C= n.343C= | |
| 17 | g.80112075C>G | CA401369103 | GAA | c.1729C>G (p.Leu577Val) c.117C>G n.343C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112075C>T | CA502178928 | GAA | c.1729C>T (p.Leu577=) c.117C>T n.343C>T | |
| 17 | g.80112076T>A | CA401369105 | GAA | c.1730T>A (p.Leu577Gln) c.118T>A n.344T>A | |
| 17 | g.80112076T>C | CA401369106 | GAA | c.1730T>C (p.Leu577Pro) c.118T>C n.344T>C | dbSNP |
| 17 | g.80112076T>G | CA401369108 | GAA | c.1730T>G (p.Leu577Arg) c.118T>G n.344T>G | |
| 17 | g.80112076T= | CA2277814774 | GAA | c.1730T= (p.Leu577=) c.118T= n.344T= | |
| 17 | g.80112077G>A | CA502178929 | GAA | c.1731G>A (p.Leu577=) c.119G>A n.345G>A | ClinVar |
| 17 | g.80112077G>C | CA502178930 | GAA | c.1731G>C (p.Leu577=) c.119G>C n.345G>C | dbSNP |
| 17 | g.80112077G= | CA2277814775 | GAA | c.1731G= (p.Leu577=) c.119G= n.345G= | |
| 17 | g.80112077G>T | CA502178932 | GAA | c.1731G>T (p.Leu577=) c.119G>T n.345G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112078A>C | CA401369109 | GAA | c.1732A>C (p.Thr578Pro) c.120A>C n.346A>C | |
| 17 | g.80112078A>G | CA401369111 | GAA | c.1732A>G (p.Thr578Ala) c.120A>G n.346A>G | |
| 17 | g.80112078A>T | CA401369113 | GAA | c.1732A>T (p.Thr578Ser) c.120A>T n.346A>T | |
| 17 | g.80112079C>A | CA401369118 | GAA | c.1733C>A (p.Thr578Asn) c.121C>A n.347C>A | |
| 17 | g.80112079C= | CA2277814776 | GAA | c.1733C= (p.Thr578=) c.121C= n.347C= | |
| 17 | g.80112079C>G | CA401369114 | GAA | c.1733C>G (p.Thr578Ser) c.121C>G n.347C>G | |
| 17 | g.80112079C>T | CA401369116 | GAA | c.1733C>T (p.Thr578Ile) c.121C>T n.347C>T | dbSNP |
| 17 | g.80112080C>A | CA502178937 | GAA | c.1734C>A (p.Thr578=) c.122C>A n.348C>A | |
| 17 | g.80112080C= | CA2277814777 | GAA | c.1734C= (p.Thr578=) c.122C= n.348C= | |
| 17 | g.80112080C>G | CA8815441 | GAA | c.1734C>G (p.Thr578=) c.122C>G n.348C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112080C>T | CA8815442 | GAA | c.1734C>T (p.Thr578=) c.122C>T n.348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112081G>A | CA294895841 | GAA | c.1735G>A (p.Glu579Lys) c.123G>A n.349G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112081G>C | CA294895849 | GAA | c.1735G>C (p.Glu579Gln) c.123G>C n.349G>C | dbSNP |
| 17 | g.80112081G= | CA2277814778 | GAA | c.1735G= (p.Glu579=) c.123G= n.349G= | |
| 17 | g.80112081G>T | CA401369122 | GAA | c.1735G>T (p.Glu579Ter) c.123G>T n.349G>T | dbSNP |
| 17 | g.80112082A>C | CA401369124 | GAA | c.1736A>C (p.Glu579Ala) c.124A>C n.350A>C | |
| 17 | g.80112082A>G | CA401369128 | GAA | c.1736A>G (p.Glu579Gly) c.124A>G n.350A>G | |
| 17 | g.80112082A>T | CA401369126 | GAA | c.1736A>T (p.Glu579Val) c.124A>T n.350A>T | |
| 17 | g.80112083A>C | CA401369130 | GAA | c.1737A>C (p.Glu579Asp) c.125A>C n.351A>C | |
| 17 | g.80112083A>G | CA502178942 | GAA | c.1737A>G (p.Glu579=) c.125A>G n.351A>G | |
| 17 | g.80112083A>T | CA401369131 | GAA | c.1737A>T (p.Glu579Asp) c.125A>T n.351A>T | |
| 17 | g.80112084G>A | CA401369135 | GAA | c.1738G>A (p.Ala580Thr) c.126G>A n.352G>A | |
| 17 | g.80112084G>C | CA401369136 | GAA | c.1738G>C (p.Ala580Pro) c.126G>C n.352G>C | |
| 17 | g.80112084G>T | CA401369138 | GAA | c.1738G>T (p.Ala580Ser) c.126G>T n.352G>T | |
| 17 | g.80112085C>A | CA401369139 | GAA | c.1739C>A (p.Ala580Asp) c.127C>A n.353C>A | |
| 17 | g.80112085C= | CA2277814779 | GAA | c.1739C= (p.Ala580=) c.127C= n.353C= | |
| 17 | g.80112085C>G | CA401369141 | GAA | c.1739C>G (p.Ala580Gly) c.127C>G n.353C>G | |
| 17 | g.80112085C>T | CA294895855 | GAA | c.1739C>T (p.Ala580Val) c.127C>T n.353C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.80112086C>A | CA502178947 | GAA | c.1740C>A (p.Ala580=) c.128C>A n.354C>A | |
| 17 | g.80112086C>G | CA502178948 | GAA | c.1740C>G (p.Ala580=) c.128C>G n.354C>G | |
| 17 | g.80112086C>T | CA502178949 | GAA | c.1740C>T (p.Ala580=) c.128C>T n.354C>T | gnomAD v4 |
| 17 | g.80112087A= | CA2277814780 | GAA | c.1741A= (p.Ile581=) c.129A= n.355A= | |
| 17 | g.80112087A>C | CA8815443 | GAA | c.1741A>C (p.Ile581Leu) c.129A>C n.355A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112087A>G | CA401369145 | GAA | c.1741A>G (p.Ile581Val) c.129A>G n.355A>G | ClinVar dbSNP |
| 17 | g.80112087A>T | CA401369147 | GAA | c.1741A>T (p.Ile581Phe) c.129A>T n.355A>T | |
| 17 | g.80112088T>A | CA401369149 | GAA | c.1742T>A (p.Ile581Asn) c.130T>A n.356T>A | gnomAD v4 |
| 17 | g.80112088T>C | CA401369151 | GAA | c.1742T>C (p.Ile581Thr) c.130T>C n.356T>C | |
| 17 | g.80112088T>G | CA401369152 | GAA | c.1742T>G (p.Ile581Ser) c.130T>G n.356T>G | |
| 17 | g.80112089C>A | CA502178952 | GAA | c.1743C>A (p.Ile581=) c.131C>A n.357C>A | |
| 17 | g.80112089C= | CA2277814781 | GAA | c.1743C= (p.Ile581=) c.131C= n.357C= | |
| 17 | g.80112089C>G | CA8815444 | GAA | c.1743C>G (p.Ile581Met) c.131C>G n.357C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112089C>T | CA8815445 | GAA | c.1743C>T (p.Ile581=) c.131C>T n.357C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80112090G>A | CA8815446 | GAA | c.1744G>A (p.Ala582Thr) c.132G>A n.358G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.80112090G>C | CA294895864 | GAA | c.1744G>C (p.Ala582Pro) c.132G>C n.358G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112090G= | CA2277814782 | GAA | c.1744G= (p.Ala582=) c.132G= n.358G= | |
| 17 | g.80112090G>T | CA401369157 | GAA | c.1744G>T (p.Ala582Ser) c.132G>T n.358G>T | gnomAD v4 |
| 17 | g.80112091C>A | CA401369159 | GAA | c.1745C>A (p.Ala582Asp) c.133C>A n.359C>A | |
| 17 | g.80112091C>G | CA401369161 | GAA | c.1745C>G (p.Ala582Gly) c.133C>G n.359C>G | |
| 17 | g.80112091C>T | CA401369163 | GAA | c.1745C>T (p.Ala582Val) c.133C>T n.359C>T | gnomAD v4 |
| 17 | g.80112092C>A | CA502178958 | GAA | c.1746C>A (p.Ala582=) c.134C>A n.360C>A | dbSNP |
| 17 | g.80112092C= | CA2277814783 | GAA | c.1746C= (p.Ala582=) c.134C= n.360C= | |
| 17 | g.80112092C>G | CA502178957 | GAA | c.1746C>G (p.Ala582=) c.134C>G n.360C>G | |
| 17 | g.80112092C>T | CA502178956 | GAA | c.1746C>T (p.Ala582=) c.134C>T n.360C>T | ClinVar COSMIC |
| 17 | g.80112093T>A | CA401369165 | GAA | c.1747T>A (p.Ser583Thr) c.135T>A n.361T>A | |
| 17 | g.80112093T>C | CA401369167 | GAA | c.1747T>C (p.Ser583Pro) c.135T>C n.361T>C | |
| 17 | g.80112093T>G | CA401369168 | GAA | c.1747T>G (p.Ser583Ala) c.135T>G n.361T>G | |
| 17 | g.80112094C>A | CA401369171 | GAA | c.1748C>A (p.Ser583Tyr) c.136C>A n.362C>A | |
| 17 | g.80112094C>G | CA401369173 | GAA | c.1748C>G (p.Ser583Cys) c.136C>G n.362C>G | |
| 17 | g.80112094C>T | CA401369174 | GAA | c.1748C>T (p.Ser583Phe) c.136C>T n.362C>T | ClinVar dbSNP |
| 17 | g.80112095C>A | CA502178960 | GAA | c.1749C>A (p.Ser583=) c.137C>A n.363C>A | |
| 17 | g.80112095C>G | CA502178961 | GAA | c.1749C>G (p.Ser583=) c.137C>G n.363C>G | |
| 17 | g.80112095C>T | CA502178962 | GAA | c.1749C>T (p.Ser583=) c.137C>T n.363C>T | |
| 17 | g.80112096C>A | CA401369176 | GAA | c.1750C>A (p.His584Asn) c.138C>A n.364C>A | ClinVar dbSNP |
| 17 | g.80112096C= | CA2277814784 | GAA | c.1750C= (p.His584=) c.138C= n.364C= | |
| 17 | g.80112096C>G | CA8815447 | GAA | c.1750C>G (p.His584Asp) c.138C>G n.364C>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.80112096C>T | CA401369177 | GAA | c.1750C>T (p.His584Tyr) c.138C>T n.364C>T | gnomAD v4 |
| 17 | g.80112097A= | CA2277814785 | GAA | c.1751A= (p.His584=) c.139A= n.365A= | |
| 17 | g.80112097A>C | CA401369180 | GAA | c.1751A>C (p.His584Pro) c.139A>C n.365A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112097A>G | CA401369182 | GAA | c.1751A>G (p.His584Arg) c.139A>G n.365A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112097A>T | CA401369181 | GAA | c.1751A>T (p.His584Leu) c.139A>T n.365A>T | |
| 17 | g.80112098C>A | CA401369184 | GAA | c.1752C>A (p.His584Gln) c.140C>A n.366C>A | |
| 17 | g.80112098C>G | CA401369185 | GAA | c.1752C>G (p.His584Gln) c.140C>G n.366C>G | |
| 17 | g.80112098C>T | CA502178965 | GAA | c.1752C>T (p.His584=) c.140C>T n.366C>T | ClinVar gnomAD v4 |
| 17 | g.80112098_80112099insCTGTGGG | CA2640292197 | GAA | c.1752_1753insCTGTGGG (p.Arg585LeufsTer?) c.140_141insCTGTGGG n.366_367insCTGTGGG | gnomAD v4 |
| 17 | g.80112099A= | CA2277814786 | GAA | c.1753A= (p.Arg585=) c.141A= n.367A= | |
| 17 | g.80112099A>C | CA502178966 | GAA | c.1753A>C (p.Arg585=) c.141A>C n.367A>C | |
| 17 | g.80112099A>G | CA401369187 | GAA | c.1753A>G (p.Arg585Gly) c.141A>G n.367A>G | gnomAD v4 |
| 17 | g.80112099A>T | CA401369189 | GAA | c.1753A>T (p.Arg585Trp) c.141A>T n.367A>T | ClinVar dbSNP |
| 17 | g.80112099_80112106delinsAGGTGAGG | CA2277814787 | GAA | c.1753_1754+6delinsAGGTGAGG c.141_142+6delinsAGGTGAGG n.367_368+6delinsAGGTGAGG | |
| 17 | g.80112099_80118805del | CA913184762 | GAA | c.1753_2799del c.1753_*937del | |
| 17 | g.80112100G>A | CA8815448 | GAA | c.1754G>A (p.Arg585Lys) c.142G>A n.368G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112100G>C | CA401369192 | GAA | c.1754G>C (p.Arg585Thr) c.142G>C n.368G>C | |
| 17 | g.80112100G= | CA2277814788 | GAA | c.1754G= (p.Arg585=) c.142G= n.368G= | |
| 17 | g.80112100G>T | CA401369193 | GAA | c.1754G>T (p.Arg585Met) c.142G>T n.368G>T | |
| 17 | g.80112101dup | CA891862615 | GAA | c.1754+1dup c.142+1dup n.368+1dup | dbSNP |
| 17 | g.80112101_80112107del | CA916082439 | GAA | c.1754+1_1754+7del c.142+1_142+7del n.368+1_368+7del | ClinVar dbSNP |
| 17 | g.80112101G>A | CA10605471 | GAA | c.1754+1G>A (n.1754+1G>A) c.142+1G>A n.368+1G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112101G>C | CA401369196 | GAA | c.1754+1G>C (n.1754+1G>C) c.142+1G>C n.368+1G>C | |
| 17 | g.80112101G= | CA2277814789 | GAA | c.1754+1G= (n.1754+1G=) c.142+1G= n.368+1G= | |
| 17 | g.80112101G>T | CA401369198 | GAA | c.1754+1G>T (n.1754+1G>T) c.142+1G>T n.368+1G>T | |
| 17 | g.80112102T>A | CA401369200 | GAA | c.1754+2T>A (n.1754+2T>A) c.142+2T>A n.368+2T>A | ClinVar |
| 17 | g.80112102T>C | CA401369202 | GAA | c.1754+2T>C (n.1754+2T>C) c.142+2T>C n.368+2T>C | ClinVar gnomAD v4 |
| 17 | g.80112102T>G | CA401369204 | GAA | c.1754+2T>G (n.1754+2T>G) c.142+2T>G n.368+2T>G | ClinVar dbSNP |
| 17 | g.80112103G>A | CA2640292246 | GAA | c.1754+3G>A (n.1754+3G>A) c.142+3G>A n.368+3G>A | gnomAD v4 |
| 17 | g.80112105G>T | CA2640292250 | GAA | c.1754+5G>T (n.1754+5G>T) c.142+5G>T n.368+5G>T | gnomAD v4 |
| 17 | g.80112106G>A | CA2576414149 | GAA | c.1754+6G>A (n.1754+6G>A) c.142+6G>A n.368+6G>A | |
| 17 | g.80112106G>C | CA627699788 | GAA | c.1754+6G>C (n.1754+6G>C) c.142+6G>C n.368+6G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112106G= | CA2277814790 | GAA | c.1754+6G= (n.1754+6G=) c.142+6G= n.368+6G= | |
| 17 | g.80112108C= | CA2277814791 | GAA | c.1754+8C= (n.1754+8C=) c.142+8C= n.368+8C= | |
| 17 | g.80112108C>T | CA775517601 | GAA | c.1754+8C>T (n.1754+8C>T) c.142+8C>T n.368+8C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80112109del | CA2576414150 | GAA | c.1754+9del (n.1754+9del) c.142+9del n.368+9del | |
| 17 | g.80112109C>A | CA2640292259 | GAA | c.1754+9C>A (n.1754+9C>A) c.142+9C>A n.368+9C>A | gnomAD v4 |
| 17 | g.80112109C= | CA2277814792 | GAA | c.1754+9C= (n.1754+9C=) c.142+9C= n.368+9C= | |
| 17 | g.80112109C>G | CA2499225015 | GAA | c.1754+9C>G (n.1754+9C>G) c.142+9C>G n.368+9C>G | ClinVar dbSNP |
| 17 | g.80112109C>T | CA627699789 | GAA | c.1754+9C>T (n.1754+9C>T) c.142+9C>T n.368+9C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112110A= | CA2277814793 | GAA | c.1754+10A= (n.1754+10A=) c.142+10A= n.368+10A= | |
| 17 | g.80112110A>G | CA627699790 | GAA | c.1754+10A>G (n.1754+10A>G) c.142+10A>G n.368+10A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80112111C= | CA2277814794 | GAA | c.1754+11C= (n.1754+11C=) c.142+11C= n.368+11C= | |
| 17 | g.80112111C>T | CA8815449 | GAA | c.1754+11C>T (n.1754+11C>T) c.142+11C>T n.368+11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112111_80112112del | CA2573054604 | GAA | c.1754+11_1754+12del (n.1754+11_1754+12del) c.142+11_142+12del n.368+11_368+12del | dbSNP |
| 17 | g.80112112G>A | CA145763 | GAA | c.1754+12G>A (n.1754+12G>A) c.142+12G>A n.368+12G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80112112G>C | CA2581285046 | GAA | c.1754+12G>C (n.1754+12G>C) c.142+12G>C n.368+12G>C | |
| 17 | g.80112112G= | CA2277814795 | GAA | c.1754+12G= (n.1754+12G=) c.142+12G= n.368+12G= | |
| 17 | g.80112112G>T | CA2581285045 | GAA | c.1754+12G>T (n.1754+12G>T) c.142+12G>T n.368+12G>T | ClinVar |
| 17 | g.80112114C= | CA2277814796 | GAA | c.1754+14C= (n.1754+14C=) c.142+14C= n.368+14C= | |
| 17 | g.80112114C>G | CA2277814797 | GAA | c.1754+14C>G (n.1754+14C>G) c.142+14C>G n.368+14C>G | dbSNP gnomAD v4 |
| 17 | g.80112115C>A | CA2576414151 | GAA | c.1754+15C>A (n.1754+15C>A) c.142+15C>A n.368+15C>A | gnomAD v4 |
| 17 | g.80112115C>T | CA2640292290 | GAA | c.1754+15C>T (n.1754+15C>T) c.142+15C>T n.368+15C>T | ClinVar gnomAD v4 |