WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740493T>A | CA349610620 | TTN | c.10361-2133A>T (n.10361-2133A>T) c.12227A>T (p.Glu4076Val) c.12026A>T (p.Glu4009Val) c.11651A>T (p.Glu3884Val) c.12740A>T (p.Glu4247Val) c.11789A>T (p.Glu3930Val) c.11837A>T (p.Glu3946Val) c.11696A>T (p.Glu3899Val) c.11792A>T (p.Glu3931Val) c.10364-2133A>T (n.10364-2133A>T) | |
| 2 | g.178740493T>C | CA60984099 | TTN | c.10361-2133A>G (n.10361-2133A>G) c.12227A>G (p.Glu4076Gly) c.12026A>G (p.Glu4009Gly) c.11651A>G (p.Glu3884Gly) c.12740A>G (p.Glu4247Gly) c.11789A>G (p.Glu3930Gly) c.11837A>G (p.Glu3946Gly) c.11696A>G (p.Glu3899Gly) c.11792A>G (p.Glu3931Gly) c.10364-2133A>G (n.10364-2133A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740493T>G | CA349610622 | TTN | c.10361-2133A>C (n.10361-2133A>C) c.12227A>C (p.Glu4076Ala) c.12026A>C (p.Glu4009Ala) c.11651A>C (p.Glu3884Ala) c.12740A>C (p.Glu4247Ala) c.11789A>C (p.Glu3930Ala) c.11837A>C (p.Glu3946Ala) c.11696A>C (p.Glu3899Ala) c.11792A>C (p.Glu3931Ala) c.10364-2133A>C (n.10364-2133A>C) | |
| 2 | g.178740493T= | CA1310601416 | TTN | c.10361-2133A= (n.10361-2133A=) c.12227A= (p.Glu4076=) c.12026A= (p.Glu4009=) c.11651A= (p.Glu3884=) c.12740A= (p.Glu4247=) c.11789A= (p.Glu3930=) c.11837A= (p.Glu3946=) c.11696A= (p.Glu3899=) c.11792A= (p.Glu3931=) c.10364-2133A= (n.10364-2133A=) | |
| 2 | g.178740494C>A | CA349610627 | TTN | c.10361-2134G>T (n.10361-2134G>T) c.12226G>T (p.Glu4076Ter) c.12025G>T (p.Glu4009Ter) c.11650G>T (p.Glu3884Ter) c.12739G>T (p.Glu4247Ter) c.11788G>T (p.Glu3930Ter) c.11836G>T (p.Glu3946Ter) c.11695G>T (p.Glu3899Ter) c.11791G>T (p.Glu3931Ter) c.10364-2134G>T (n.10364-2134G>T) | |
| 2 | g.178740494C>G | CA349610628 | TTN | c.10361-2134G>C (n.10361-2134G>C) c.12226G>C (p.Glu4076Gln) c.12025G>C (p.Glu4009Gln) c.11650G>C (p.Glu3884Gln) c.12739G>C (p.Glu4247Gln) c.11788G>C (p.Glu3930Gln) c.11836G>C (p.Glu3946Gln) c.11695G>C (p.Glu3899Gln) c.11791G>C (p.Glu3931Gln) c.10364-2134G>C (n.10364-2134G>C) | |
| 2 | g.178740494C>T | CA349610625 | TTN | c.10361-2134G>A (n.10361-2134G>A) c.12226G>A (p.Glu4076Lys) c.12025G>A (p.Glu4009Lys) c.11650G>A (p.Glu3884Lys) c.12739G>A (p.Glu4247Lys) c.11788G>A (p.Glu3930Lys) c.11836G>A (p.Glu3946Lys) c.11695G>A (p.Glu3899Lys) c.11791G>A (p.Glu3931Lys) c.10364-2134G>A (n.10364-2134G>A) | |
| 2 | g.178740495T>A | CA349610630 | TTN | c.10361-2135A>T (n.10361-2135A>T) c.12225A>T (p.Arg4075Ser) c.12024A>T (p.Arg4008Ser) c.11649A>T (p.Arg3883Ser) c.12738A>T (p.Arg4246Ser) c.11787A>T (p.Arg3929Ser) c.11835A>T (p.Arg3945Ser) c.11694A>T (p.Arg3898Ser) c.11790A>T (p.Arg3930Ser) c.10364-2135A>T (n.10364-2135A>T) | gnomAD v4 |
| 2 | g.178740495T>C | CA430296085 | TTN | c.10361-2135A>G (n.10361-2135A>G) c.12225A>G (p.Arg4075=) c.12024A>G (p.Arg4008=) c.11649A>G (p.Arg3883=) c.12738A>G (p.Arg4246=) c.11787A>G (p.Arg3929=) c.11835A>G (p.Arg3945=) c.11694A>G (p.Arg3898=) c.11790A>G (p.Arg3930=) c.10364-2135A>G (n.10364-2135A>G) | |
| 2 | g.178740495T>G | CA349610632 | TTN | c.10361-2135A>C (n.10361-2135A>C) c.12225A>C (p.Arg4075Ser) c.12024A>C (p.Arg4008Ser) c.11649A>C (p.Arg3883Ser) c.12738A>C (p.Arg4246Ser) c.11787A>C (p.Arg3929Ser) c.11835A>C (p.Arg3945Ser) c.11694A>C (p.Arg3898Ser) c.11790A>C (p.Arg3930Ser) c.10364-2135A>C (n.10364-2135A>C) | |
| 2 | g.178740496C>A | CA349610634 | TTN | c.10361-2136G>T (n.10361-2136G>T) c.12224G>T (p.Arg4075Ile) c.12023G>T (p.Arg4008Ile) c.11648G>T (p.Arg3883Ile) c.12737G>T (p.Arg4246Ile) c.11786G>T (p.Arg3929Ile) c.11834G>T (p.Arg3945Ile) c.11693G>T (p.Arg3898Ile) c.11789G>T (p.Arg3930Ile) c.10364-2136G>T (n.10364-2136G>T) | |
| 2 | g.178740496C>G | CA349610636 | TTN | c.10361-2136G>C (n.10361-2136G>C) c.12224G>C (p.Arg4075Thr) c.12023G>C (p.Arg4008Thr) c.11648G>C (p.Arg3883Thr) c.12737G>C (p.Arg4246Thr) c.11786G>C (p.Arg3929Thr) c.11834G>C (p.Arg3945Thr) c.11693G>C (p.Arg3898Thr) c.11789G>C (p.Arg3930Thr) c.10364-2136G>C (n.10364-2136G>C) | |
| 2 | g.178740496C>T | CA349610638 | TTN | c.10361-2136G>A (n.10361-2136G>A) c.12224G>A (p.Arg4075Lys) c.12023G>A (p.Arg4008Lys) c.11648G>A (p.Arg3883Lys) c.12737G>A (p.Arg4246Lys) c.11786G>A (p.Arg3929Lys) c.11834G>A (p.Arg3945Lys) c.11693G>A (p.Arg3898Lys) c.11789G>A (p.Arg3930Lys) c.10364-2136G>A (n.10364-2136G>A) | |
| 2 | g.178740497T>A | CA349610640 | TTN | c.10361-2137A>T (n.10361-2137A>T) c.12223A>T (p.Arg4075Ter) c.12022A>T (p.Arg4008Ter) c.11647A>T (p.Arg3883Ter) c.12736A>T (p.Arg4246Ter) c.11785A>T (p.Arg3929Ter) c.11833A>T (p.Arg3945Ter) c.11692A>T (p.Arg3898Ter) c.11788A>T (p.Arg3930Ter) c.10364-2137A>T (n.10364-2137A>T) | |
| 2 | g.178740497T>C | CA349610641 | TTN | c.10361-2137A>G (n.10361-2137A>G) c.12223A>G (p.Arg4075Gly) c.12022A>G (p.Arg4008Gly) c.11647A>G (p.Arg3883Gly) c.12736A>G (p.Arg4246Gly) c.11785A>G (p.Arg3929Gly) c.11833A>G (p.Arg3945Gly) c.11692A>G (p.Arg3898Gly) c.11788A>G (p.Arg3930Gly) c.10364-2137A>G (n.10364-2137A>G) | gnomAD v4 |
| 2 | g.178740497T>G | CA430296086 | TTN | c.10361-2137A>C (n.10361-2137A>C) c.12223A>C (p.Arg4075=) c.12022A>C (p.Arg4008=) c.11647A>C (p.Arg3883=) c.12736A>C (p.Arg4246=) c.11785A>C (p.Arg3929=) c.11833A>C (p.Arg3945=) c.11692A>C (p.Arg3898=) c.11788A>C (p.Arg3930=) c.10364-2137A>C (n.10364-2137A>C) | |
| 2 | g.178740498G>A | CA430296087 | TTN | c.10361-2138C>T (n.10361-2138C>T) c.12222C>T (p.Asn4074=) c.12021C>T (p.Asn4007=) c.11646C>T (p.Asn3882=) c.12735C>T (p.Asn4245=) c.11784C>T (p.Asn3928=) c.11832C>T (p.Asn3944=) c.11691C>T (p.Asn3897=) c.11787C>T (p.Asn3929=) c.10364-2138C>T (n.10364-2138C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740498G>C | CA349610643 | TTN | c.10361-2138C>G (n.10361-2138C>G) c.12222C>G (p.Asn4074Lys) c.12021C>G (p.Asn4007Lys) c.11646C>G (p.Asn3882Lys) c.12735C>G (p.Asn4245Lys) c.11784C>G (p.Asn3928Lys) c.11832C>G (p.Asn3944Lys) c.11691C>G (p.Asn3897Lys) c.11787C>G (p.Asn3929Lys) c.10364-2138C>G (n.10364-2138C>G) | |
| 2 | g.178740498G= | CA1310601418 | TTN | c.10361-2138C= (n.10361-2138C=) c.12222C= (p.Asn4074=) c.12021C= (p.Asn4007=) c.11646C= (p.Asn3882=) c.12735C= (p.Asn4245=) c.11784C= (p.Asn3928=) c.11832C= (p.Asn3944=) c.11691C= (p.Asn3897=) c.11787C= (p.Asn3929=) c.10364-2138C= (n.10364-2138C=) | |
| 2 | g.178740498G>T | CA349610645 | TTN | c.10361-2138C>A (n.10361-2138C>A) c.12222C>A (p.Asn4074Lys) c.12021C>A (p.Asn4007Lys) c.11646C>A (p.Asn3882Lys) c.12735C>A (p.Asn4245Lys) c.11784C>A (p.Asn3928Lys) c.11832C>A (p.Asn3944Lys) c.11691C>A (p.Asn3897Lys) c.11787C>A (p.Asn3929Lys) c.10364-2138C>A (n.10364-2138C>A) | |
| 2 | g.178740499T>A | CA349610646 | TTN | c.10361-2139A>T (n.10361-2139A>T) c.12221A>T (p.Asn4074Ile) c.12020A>T (p.Asn4007Ile) c.11645A>T (p.Asn3882Ile) c.12734A>T (p.Asn4245Ile) c.11783A>T (p.Asn3928Ile) c.11831A>T (p.Asn3944Ile) c.11690A>T (p.Asn3897Ile) c.11786A>T (p.Asn3929Ile) c.10364-2139A>T (n.10364-2139A>T) | |
| 2 | g.178740499T>C | CA60984103 | TTN | c.10361-2139A>G (n.10361-2139A>G) c.12221A>G (p.Asn4074Ser) c.12020A>G (p.Asn4007Ser) c.11645A>G (p.Asn3882Ser) c.12734A>G (p.Asn4245Ser) c.11783A>G (p.Asn3928Ser) c.11831A>G (p.Asn3944Ser) c.11690A>G (p.Asn3897Ser) c.11786A>G (p.Asn3929Ser) c.10364-2139A>G (n.10364-2139A>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178740499T>G | CA349610648 | TTN | c.10361-2139A>C (n.10361-2139A>C) c.12221A>C (p.Asn4074Thr) c.12020A>C (p.Asn4007Thr) c.11645A>C (p.Asn3882Thr) c.12734A>C (p.Asn4245Thr) c.11783A>C (p.Asn3928Thr) c.11831A>C (p.Asn3944Thr) c.11690A>C (p.Asn3897Thr) c.11786A>C (p.Asn3929Thr) c.10364-2139A>C (n.10364-2139A>C) | |
| 2 | g.178740499T= | CA1310601421 | TTN | c.10361-2139A= (n.10361-2139A=) c.12221A= (p.Asn4074=) c.12020A= (p.Asn4007=) c.11645A= (p.Asn3882=) c.12734A= (p.Asn4245=) c.11783A= (p.Asn3928=) c.11831A= (p.Asn3944=) c.11690A= (p.Asn3897=) c.11786A= (p.Asn3929=) c.10364-2139A= (n.10364-2139A=) | |
| 2 | g.178740500T>A | CA349610651 | TTN | c.10361-2140A>T (n.10361-2140A>T) c.12220A>T (p.Asn4074Tyr) c.12019A>T (p.Asn4007Tyr) c.11644A>T (p.Asn3882Tyr) c.12733A>T (p.Asn4245Tyr) c.11782A>T (p.Asn3928Tyr) c.11830A>T (p.Asn3944Tyr) c.11689A>T (p.Asn3897Tyr) c.11785A>T (p.Asn3929Tyr) c.10364-2140A>T (n.10364-2140A>T) | |
| 2 | g.178740500T>C | CA349610652 | TTN | c.10361-2140A>G (n.10361-2140A>G) c.12220A>G (p.Asn4074Asp) c.12019A>G (p.Asn4007Asp) c.11644A>G (p.Asn3882Asp) c.12733A>G (p.Asn4245Asp) c.11782A>G (p.Asn3928Asp) c.11830A>G (p.Asn3944Asp) c.11689A>G (p.Asn3897Asp) c.11785A>G (p.Asn3929Asp) c.10364-2140A>G (n.10364-2140A>G) | |
| 2 | g.178740500T>G | CA141998 | TTN | c.10361-2140A>C (n.10361-2140A>C) c.12220A>C (p.Asn4074His) c.12019A>C (p.Asn4007His) c.11644A>C (p.Asn3882His) c.12733A>C (p.Asn4245His) c.11782A>C (p.Asn3928His) c.11830A>C (p.Asn3944His) c.11689A>C (p.Asn3897His) c.11785A>C (p.Asn3929His) c.10364-2140A>C (n.10364-2140A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740500T= | CA1310601423 | TTN | c.10361-2140A= (n.10361-2140A=) c.12220A= (p.Asn4074=) c.12019A= (p.Asn4007=) c.11644A= (p.Asn3882=) c.12733A= (p.Asn4245=) c.11782A= (p.Asn3928=) c.11830A= (p.Asn3944=) c.11689A= (p.Asn3897=) c.11785A= (p.Asn3929=) c.10364-2140A= (n.10364-2140A=) | |
| 2 | g.178740501G>A | CA430296088 | TTN | c.10361-2141C>T (n.10361-2141C>T) c.12219C>T (p.Thr4073=) c.12018C>T (p.Thr4006=) c.11643C>T (p.Thr3881=) c.12732C>T (p.Thr4244=) c.11781C>T (p.Thr3927=) c.11829C>T (p.Thr3943=) c.11688C>T (p.Thr3896=) c.11784C>T (p.Thr3928=) c.10364-2141C>T (n.10364-2141C>T) | |
| 2 | g.178740501G>C | CA430296090 | TTN | c.10361-2141C>G (n.10361-2141C>G) c.12219C>G (p.Thr4073=) c.12018C>G (p.Thr4006=) c.11643C>G (p.Thr3881=) c.12732C>G (p.Thr4244=) c.11781C>G (p.Thr3927=) c.11829C>G (p.Thr3943=) c.11688C>G (p.Thr3896=) c.11784C>G (p.Thr3928=) c.10364-2141C>G (n.10364-2141C>G) | |
| 2 | g.178740501G>T | CA430296089 | TTN | c.10361-2141C>A (n.10361-2141C>A) c.12219C>A (p.Thr4073=) c.12018C>A (p.Thr4006=) c.11643C>A (p.Thr3881=) c.12732C>A (p.Thr4244=) c.11781C>A (p.Thr3927=) c.11829C>A (p.Thr3943=) c.11688C>A (p.Thr3896=) c.11784C>A (p.Thr3928=) c.10364-2141C>A (n.10364-2141C>A) | |
| 2 | g.178740502G>A | CA349610657 | TTN | c.10361-2142C>T (n.10361-2142C>T) c.12218C>T (p.Thr4073Ile) c.12017C>T (p.Thr4006Ile) c.11642C>T (p.Thr3881Ile) c.12731C>T (p.Thr4244Ile) c.11780C>T (p.Thr3927Ile) c.11828C>T (p.Thr3943Ile) c.11687C>T (p.Thr3896Ile) c.11783C>T (p.Thr3928Ile) c.10364-2142C>T (n.10364-2142C>T) | gnomAD v4 |
| 2 | g.178740502G>C | CA349610659 | TTN | c.10361-2142C>G (n.10361-2142C>G) c.12218C>G (p.Thr4073Ser) c.12017C>G (p.Thr4006Ser) c.11642C>G (p.Thr3881Ser) c.12731C>G (p.Thr4244Ser) c.11780C>G (p.Thr3927Ser) c.11828C>G (p.Thr3943Ser) c.11687C>G (p.Thr3896Ser) c.11783C>G (p.Thr3928Ser) c.10364-2142C>G (n.10364-2142C>G) | |
| 2 | g.178740502G>T | CA349610656 | TTN | c.10361-2142C>A (n.10361-2142C>A) c.12218C>A (p.Thr4073Asn) c.12017C>A (p.Thr4006Asn) c.11642C>A (p.Thr3881Asn) c.12731C>A (p.Thr4244Asn) c.11780C>A (p.Thr3927Asn) c.11828C>A (p.Thr3943Asn) c.11687C>A (p.Thr3896Asn) c.11783C>A (p.Thr3928Asn) c.10364-2142C>A (n.10364-2142C>A) | |
| 2 | g.178740503T>A | CA349610661 | TTN | c.10361-2143A>T (n.10361-2143A>T) c.12217A>T (p.Thr4073Ser) c.12016A>T (p.Thr4006Ser) c.11641A>T (p.Thr3881Ser) c.12730A>T (p.Thr4244Ser) c.11779A>T (p.Thr3927Ser) c.11827A>T (p.Thr3943Ser) c.11686A>T (p.Thr3896Ser) c.11782A>T (p.Thr3928Ser) c.10364-2143A>T (n.10364-2143A>T) | |
| 2 | g.178740503T>C | CA349610664 | TTN | c.10361-2143A>G (n.10361-2143A>G) c.12217A>G (p.Thr4073Ala) c.12016A>G (p.Thr4006Ala) c.11641A>G (p.Thr3881Ala) c.12730A>G (p.Thr4244Ala) c.11779A>G (p.Thr3927Ala) c.11827A>G (p.Thr3943Ala) c.11686A>G (p.Thr3896Ala) c.11782A>G (p.Thr3928Ala) c.10364-2143A>G (n.10364-2143A>G) | gnomAD v4 |
| 2 | g.178740503T>G | CA349610662 | TTN | c.10361-2143A>C (n.10361-2143A>C) c.12217A>C (p.Thr4073Pro) c.12016A>C (p.Thr4006Pro) c.11641A>C (p.Thr3881Pro) c.12730A>C (p.Thr4244Pro) c.11779A>C (p.Thr3927Pro) c.11827A>C (p.Thr3943Pro) c.11686A>C (p.Thr3896Pro) c.11782A>C (p.Thr3928Pro) c.10364-2143A>C (n.10364-2143A>C) | |
| 2 | g.178740504G>A | CA430296091 | TTN | c.10361-2144C>T (n.10361-2144C>T) c.12216C>T (p.Asp4072=) c.12015C>T (p.Asp4005=) c.11640C>T (p.Asp3880=) c.12729C>T (p.Asp4243=) c.11778C>T (p.Asp3926=) c.11826C>T (p.Asp3942=) c.11685C>T (p.Asp3895=) c.11781C>T (p.Asp3927=) c.10364-2144C>T (n.10364-2144C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178740504G>C | CA349610667 | TTN | c.10361-2144C>G (n.10361-2144C>G) c.12216C>G (p.Asp4072Glu) c.12015C>G (p.Asp4005Glu) c.11640C>G (p.Asp3880Glu) c.12729C>G (p.Asp4243Glu) c.11778C>G (p.Asp3926Glu) c.11826C>G (p.Asp3942Glu) c.11685C>G (p.Asp3895Glu) c.11781C>G (p.Asp3927Glu) c.10364-2144C>G (n.10364-2144C>G) | |
| 2 | g.178740504G= | CA1310601426 | TTN | c.10361-2144C= (n.10361-2144C=) c.12216C= (p.Asp4072=) c.12015C= (p.Asp4005=) c.11640C= (p.Asp3880=) c.12729C= (p.Asp4243=) c.11778C= (p.Asp3926=) c.11826C= (p.Asp3942=) c.11685C= (p.Asp3895=) c.11781C= (p.Asp3927=) c.10364-2144C= (n.10364-2144C=) | |
| 2 | g.178740504G>T | CA349610668 | TTN | c.10361-2144C>A (n.10361-2144C>A) c.12216C>A (p.Asp4072Glu) c.12015C>A (p.Asp4005Glu) c.11640C>A (p.Asp3880Glu) c.12729C>A (p.Asp4243Glu) c.11778C>A (p.Asp3926Glu) c.11826C>A (p.Asp3942Glu) c.11685C>A (p.Asp3895Glu) c.11781C>A (p.Asp3927Glu) c.10364-2144C>A (n.10364-2144C>A) | |
| 2 | g.178740505T>A | CA349610671 | TTN | c.10361-2145A>T (n.10361-2145A>T) c.12215A>T (p.Asp4072Val) c.12014A>T (p.Asp4005Val) c.11639A>T (p.Asp3880Val) c.12728A>T (p.Asp4243Val) c.11777A>T (p.Asp3926Val) c.11825A>T (p.Asp3942Val) c.11684A>T (p.Asp3895Val) c.11780A>T (p.Asp3927Val) c.10364-2145A>T (n.10364-2145A>T) | |
| 2 | g.178740505T>C | CA349610673 | TTN | c.10361-2145A>G (n.10361-2145A>G) c.12215A>G (p.Asp4072Gly) c.12014A>G (p.Asp4005Gly) c.11639A>G (p.Asp3880Gly) c.12728A>G (p.Asp4243Gly) c.11777A>G (p.Asp3926Gly) c.11825A>G (p.Asp3942Gly) c.11684A>G (p.Asp3895Gly) c.11780A>G (p.Asp3927Gly) c.10364-2145A>G (n.10364-2145A>G) | |
| 2 | g.178740505T>G | CA349610674 | TTN | c.10361-2145A>C (n.10361-2145A>C) c.12215A>C (p.Asp4072Ala) c.12014A>C (p.Asp4005Ala) c.11639A>C (p.Asp3880Ala) c.12728A>C (p.Asp4243Ala) c.11777A>C (p.Asp3926Ala) c.11825A>C (p.Asp3942Ala) c.11684A>C (p.Asp3895Ala) c.11780A>C (p.Asp3927Ala) c.10364-2145A>C (n.10364-2145A>C) | |
| 2 | g.178740506C>A | CA349610677 | TTN | c.10361-2146G>T (n.10361-2146G>T) c.12214G>T (p.Asp4072Tyr) c.12013G>T (p.Asp4005Tyr) c.11638G>T (p.Asp3880Tyr) c.12727G>T (p.Asp4243Tyr) c.11776G>T (p.Asp3926Tyr) c.11824G>T (p.Asp3942Tyr) c.11683G>T (p.Asp3895Tyr) c.11779G>T (p.Asp3927Tyr) c.10364-2146G>T (n.10364-2146G>T) | |
| 2 | g.178740506C>G | CA349610678 | TTN | c.10361-2146G>C (n.10361-2146G>C) c.12214G>C (p.Asp4072His) c.12013G>C (p.Asp4005His) c.11638G>C (p.Asp3880His) c.12727G>C (p.Asp4243His) c.11776G>C (p.Asp3926His) c.11824G>C (p.Asp3942His) c.11683G>C (p.Asp3895His) c.11779G>C (p.Asp3927His) c.10364-2146G>C (n.10364-2146G>C) | |
| 2 | g.178740506C>T | CA349610680 | TTN | c.10361-2146G>A (n.10361-2146G>A) c.12214G>A (p.Asp4072Asn) c.12013G>A (p.Asp4005Asn) c.11638G>A (p.Asp3880Asn) c.12727G>A (p.Asp4243Asn) c.11776G>A (p.Asp3926Asn) c.11824G>A (p.Asp3942Asn) c.11683G>A (p.Asp3895Asn) c.11779G>A (p.Asp3927Asn) c.10364-2146G>A (n.10364-2146G>A) | |
| 2 | g.178740507A= | CA1310601429 | TTN | c.10361-2147T= (n.10361-2147T=) c.12213T= (p.Ser4071=) c.12012T= (p.Ser4004=) c.11637T= (p.Ser3879=) c.12726T= (p.Ser4242=) c.11775T= (p.Ser3925=) c.11823T= (p.Ser3941=) c.11682T= (p.Ser3894=) c.11778T= (p.Ser3926=) c.10364-2147T= (n.10364-2147T=) | |
| 2 | g.178740507A>C | CA430296092 | TTN | c.10361-2147T>G (n.10361-2147T>G) c.12213T>G (p.Ser4071=) c.12012T>G (p.Ser4004=) c.11637T>G (p.Ser3879=) c.12726T>G (p.Ser4242=) c.11775T>G (p.Ser3925=) c.11823T>G (p.Ser3941=) c.11682T>G (p.Ser3894=) c.11778T>G (p.Ser3926=) c.10364-2147T>G (n.10364-2147T>G) | |
| 2 | g.178740507A>G | CA430296094 | TTN | c.10361-2147T>C (n.10361-2147T>C) c.12213T>C (p.Ser4071=) c.12012T>C (p.Ser4004=) c.11637T>C (p.Ser3879=) c.12726T>C (p.Ser4242=) c.11775T>C (p.Ser3925=) c.11823T>C (p.Ser3941=) c.11682T>C (p.Ser3894=) c.11778T>C (p.Ser3926=) c.10364-2147T>C (n.10364-2147T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |