OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.122780424A>C | CA365489065 | FABP7 | c.207A>C (p.Glu69Asp) c.195A>C (p.Glu65Asp) | |
| 6 | g.122780424A>G | CA451977620 | FABP7 | c.207A>G (p.Glu69=) c.195A>G (p.Glu65=) | |
| 6 | g.122780424A>T | CA365489066 | FABP7 | c.207A>T (p.Glu69Asp) c.195A>T (p.Glu65Asp) | |
| 6 | g.122780425G>A | CA365489067 | FABP7 | c.208G>A (p.Glu70Lys) c.196G>A (p.Glu66Lys) | |
| 6 | g.122780425G>C | CA365489068 | FABP7 | c.208G>C (p.Glu70Gln) c.196G>C (p.Glu66Gln) | dbSNP |
| 6 | g.122780425G= | CA1660115298 | FABP7 | c.208G= (p.Glu70=) c.196G= (p.Glu66=) | |
| 6 | g.122780425G>T | CA365489069 | FABP7 | c.208G>T (p.Glu70Ter) c.196G>T (p.Glu66Ter) | |
| 6 | g.122780426A= | CA1660115299 | FABP7 | c.209A= (p.Glu70=) c.197A= (p.Glu66=) | |
| 6 | g.122780426A>C | CA365489072 | FABP7 | c.209A>C (p.Glu70Ala) c.197A>C (p.Glu66Ala) | |
| 6 | g.122780426A>G | CA365489071 | FABP7 | c.209A>G (p.Glu70Gly) c.197A>G (p.Glu66Gly) | dbSNP gnomAD v4 |
| 6 | g.122780426A>T | CA365489070 | FABP7 | c.209A>T (p.Glu70Val) c.197A>T (p.Glu66Val) | |
| 6 | g.122780427G>A | CA451977621 | FABP7 | c.210G>A (p.Glu70=) c.198G>A (p.Glu66=) | |
| 6 | g.122780427G>C | CA365489073 | FABP7 | c.210G>C (p.Glu70Asp) c.198G>C (p.Glu66Asp) | |
| 6 | g.122780427G>T | CA365489074 | FABP7 | c.210G>T (p.Glu70Asp) c.198G>T (p.Glu66Asp) | |
| 6 | g.122780427_122780429del | CA2680210787 | FABP7 | c.210_212del (p.Glu70_Phe71delinsAsp) c.198_200del (p.Glu66_Phe67delinsAsp) | gnomAD v4 |
| 6 | g.122780428T>A | CA365489075 | FABP7 | c.211T>A (p.Phe71Ile) c.199T>A (p.Phe67Ile) | |
| 6 | g.122780428T>C | CA365489076 | FABP7 | c.211T>C (p.Phe71Leu) c.199T>C (p.Phe67Leu) | dbSNP |
| 6 | g.122780428T>G | CA365489077 | FABP7 | c.211T>G (p.Phe71Val) c.199T>G (p.Phe67Val) | |
| 6 | g.122780428T= | CA1660115300 | FABP7 | c.211T= (p.Phe71=) c.199T= (p.Phe67=) | |
| 6 | g.122780429T>A | CA365489078 | FABP7 | c.212T>A (p.Phe71Tyr) c.200T>A (p.Phe67Tyr) | |
| 6 | g.122780429T>C | CA365489079 | FABP7 | c.212T>C (p.Phe71Ser) c.200T>C (p.Phe67Ser) | |
| 6 | g.122780429T>G | CA365489080 | FABP7 | c.212T>G (p.Phe71Cys) c.200T>G (p.Phe67Cys) | |
| 6 | g.122780430T>A | CA365489081 | FABP7 | c.213T>A (p.Phe71Leu) c.201T>A (p.Phe67Leu) | |
| 6 | g.122780430T>C | CA451977622 | FABP7 | c.213T>C (p.Phe71=) c.201T>C (p.Phe67=) | |
| 6 | g.122780430T>G | CA365489082 | FABP7 | c.213T>G (p.Phe71Leu) c.201T>G (p.Phe67Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780430T= | CA1660115301 | FABP7 | c.213T= (p.Phe71=) c.201T= (p.Phe67=) | |
| 6 | g.122780431G>A | CA365489083 | FABP7 | c.214G>A (p.Asp72Asn) c.202G>A (p.Asp68Asn) | |
| 6 | g.122780431G>C | CA3982905 | FABP7 | c.214G>C (p.Asp72His) c.202G>C (p.Asp68His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780431G= | CA1660115302 | FABP7 | c.214G= (p.Asp72=) c.202G= (p.Asp68=) | |
| 6 | g.122780431G>T | CA365489084 | FABP7 | c.214G>T (p.Asp72Tyr) c.202G>T (p.Asp68Tyr) | |
| 6 | g.122780432A>C | CA365489086 | FABP7 | c.215A>C (p.Asp72Ala) c.203A>C (p.Asp68Ala) | |
| 6 | g.122780432A>G | CA365489087 | FABP7 | c.215A>G (p.Asp72Gly) c.203A>G (p.Asp68Gly) | |
| 6 | g.122780432A>T | CA365489085 | FABP7 | c.215A>T (p.Asp72Val) c.203A>T (p.Asp68Val) | |
| 6 | g.122780433T>A | CA365489088 | FABP7 | c.216T>A (p.Asp72Glu) c.204T>A (p.Asp68Glu) | |
| 6 | g.122780433T>C | CA451977623 | FABP7 | c.216T>C (p.Asp72=) c.204T>C (p.Asp68=) | |
| 6 | g.122780433T>G | CA365489089 | FABP7 | c.216T>G (p.Asp72Glu) c.204T>G (p.Asp68Glu) | |
| 6 | g.122780434G>A | CA365489090 | FABP7 | c.217G>A (p.Glu73Lys) c.205G>A (p.Glu69Lys) | |
| 6 | g.122780434G>C | CA365489091 | FABP7 | c.217G>C (p.Glu73Gln) c.205G>C (p.Glu69Gln) | |
| 6 | g.122780434G>T | CA365489092 | FABP7 | c.217G>T (p.Glu73Ter) c.205G>T (p.Glu69Ter) | |
| 6 | g.122780435A>C | CA365489093 | FABP7 | c.218A>C (p.Glu73Ala) c.206A>C (p.Glu69Ala) | |
| 6 | g.122780435A>G | CA365489094 | FABP7 | c.218A>G (p.Glu73Gly) c.206A>G (p.Glu69Gly) | |
| 6 | g.122780435A>T | CA365489095 | FABP7 | c.218A>T (p.Glu73Val) c.206A>T (p.Glu69Val) | |
| 6 | g.122780436A= | CA1660115303 | FABP7 | c.219A= (p.Glu73=) c.207A= (p.Glu69=) | |
| 6 | g.122780436A>C | CA365489096 | FABP7 | c.219A>C (p.Glu73Asp) c.207A>C (p.Glu69Asp) | |
| 6 | g.122780436A>G | CA147077011 | FABP7 | c.219A>G (p.Glu73=) c.207A>G (p.Glu69=) | dbSNP |
| 6 | g.122780436A>T | CA365489097 | FABP7 | c.219A>T (p.Glu73Asp) c.207A>T (p.Glu69Asp) | |
| 6 | g.122780437A>C | CA365489100 | FABP7 | c.220A>C (p.Thr74Pro) c.208A>C (p.Thr70Pro) | |
| 6 | g.122780437A>G | CA365489099 | FABP7 | c.220A>G (p.Thr74Ala) c.208A>G (p.Thr70Ala) | |
| 6 | g.122780437A>T | CA365489098 | FABP7 | c.220A>T (p.Thr74Ser) c.208A>T (p.Thr70Ser) | |
| 6 | g.122780438C>A | CA365489101 | FABP7 | c.221C>A (p.Thr74Asn) c.209C>A (p.Thr70Asn) | |
| 6 | g.122780438C>G | CA365489102 | FABP7 | c.221C>G (p.Thr74Ser) c.209C>G (p.Thr70Ser) | |
| 6 | g.122780438C>T | CA365489103 | FABP7 | c.221C>T (p.Thr74Ile) c.209C>T (p.Thr70Ile) | |
| 6 | g.122780439C>A | CA451977624 | FABP7 | c.222C>A (p.Thr74=) c.210C>A (p.Thr70=) | dbSNP |
| 6 | g.122780439C= | CA1660115304 | FABP7 | c.222C= (p.Thr74=) c.210C= (p.Thr70=) | |
| 6 | g.122780439C>G | CA451977625 | FABP7 | c.222C>G (p.Thr74=) c.210C>G (p.Thr70=) | |
| 6 | g.122780439C>T | CA451977626 | FABP7 | c.222C>T (p.Thr74=) c.210C>T (p.Thr70=) | |
| 6 | g.122780440A>C | CA365489104 | FABP7 | c.223A>C (p.Thr75Pro) c.211A>C (p.Thr71Pro) | |
| 6 | g.122780440A>G | CA365489105 | FABP7 | c.223A>G (p.Thr75Ala) c.211A>G (p.Thr71Ala) | |
| 6 | g.122780440A>T | CA365489106 | FABP7 | c.223A>T (p.Thr75Ser) c.211A>T (p.Thr71Ser) | |
| 6 | g.122780441C>A | CA365489107 | FABP7 | c.224C>A (p.Thr75Asn) c.212C>A (p.Thr71Asn) | |
| 6 | g.122780441C>G | CA365489108 | FABP7 | c.224C>G (p.Thr75Ser) c.212C>G (p.Thr71Ser) | |
| 6 | g.122780441C>T | CA365489109 | FABP7 | c.224C>T (p.Thr75Ile) c.212C>T (p.Thr71Ile) | |
| 6 | g.122780442T>A | CA451977627 | FABP7 | c.225T>A (p.Thr75=) c.213T>A (p.Thr71=) | |
| 6 | g.122780442T>C | CA451977628 | FABP7 | c.225T>C (p.Thr75=) c.213T>C (p.Thr71=) | |
| 6 | g.122780442T>G | CA451977629 | FABP7 | c.225T>G (p.Thr75=) c.213T>G (p.Thr71=) | dbSNP |
| 6 | g.122780442T= | CA1660115305 | FABP7 | c.225T= (p.Thr75=) c.213T= (p.Thr71=) | |
| 6 | g.122780443G>A | CA365489110 | FABP7 | c.226G>A (p.Ala76Thr) c.214G>A (p.Ala72Thr) | COSMIC |
| 6 | g.122780443G>C | CA365489111 | FABP7 | c.226G>C (p.Ala76Pro) c.214G>C (p.Ala72Pro) | |
| 6 | g.122780443G>T | CA365489112 | FABP7 | c.226G>T (p.Ala76Ser) c.214G>T (p.Ala72Ser) | |
| 6 | g.122780444C>A | CA365489114 | FABP7 | c.227C>A (p.Ala76Glu) c.215C>A (p.Ala72Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780444C= | CA1660115306 | FABP7 | c.227C= (p.Ala76=) c.215C= (p.Ala72=) | |
| 6 | g.122780444C>G | CA365489115 | FABP7 | c.227C>G (p.Ala76Gly) c.215C>G (p.Ala72Gly) | |
| 6 | g.122780444C>T | CA365489113 | FABP7 | c.227C>T (p.Ala76Val) c.215C>T (p.Ala72Val) | |
| 6 | g.122780445A>C | CA451977630 | FABP7 | c.228A>C (p.Ala76=) c.216A>C (p.Ala72=) | |
| 6 | g.122780445A>G | CA451977631 | FABP7 | c.228A>G (p.Ala76=) c.216A>G (p.Ala72=) | gnomAD v4 |
| 6 | g.122780445A>T | CA451977632 | FABP7 | c.228A>T (p.Ala76=) c.216A>T (p.Ala72=) | |
| 6 | g.122780446G>A | CA3982906 | FABP7 | c.229G>A (p.Asp77Asn) c.217G>A (p.Asp73Asn) | dbSNP ExAC |
| 6 | g.122780446G>C | CA365489116 | FABP7 | c.229G>C (p.Asp77His) c.217G>C (p.Asp73His) | |
| 6 | g.122780446G= | CA1660115307 | FABP7 | c.229G= (p.Asp77=) c.217G= (p.Asp73=) | |
| 6 | g.122780446G>T | CA365489117 | FABP7 | c.229G>T (p.Asp77Tyr) c.217G>T (p.Asp73Tyr) | |
| 6 | g.122780447A>C | CA365489118 | FABP7 | c.230A>C (p.Asp77Ala) c.218A>C (p.Asp73Ala) | gnomAD v4 |
| 6 | g.122780447A>G | CA365489119 | FABP7 | c.230A>G (p.Asp77Gly) c.218A>G (p.Asp73Gly) | |
| 6 | g.122780447A>T | CA365489120 | FABP7 | c.230A>T (p.Asp77Val) c.218A>T (p.Asp73Val) | |
| 6 | g.122780448T>A | CA365489121 | FABP7 | c.231T>A (p.Asp77Glu) c.219T>A (p.Asp73Glu) | gnomAD v4 |
| 6 | g.122780448T>C | CA451977633 | FABP7 | c.231T>C (p.Asp77=) c.219T>C (p.Asp73=) | gnomAD v4 |
| 6 | g.122780448T>G | CA365489122 | FABP7 | c.231T>G (p.Asp77Glu) c.219T>G (p.Asp73Glu) | |
| 6 | g.122780449G>A | CA365489123 | FABP7 | c.232G>A (p.Asp78Asn) c.220G>A (p.Asp74Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780449G>C | CA365489124 | FABP7 | c.232G>C (p.Asp78His) c.220G>C (p.Asp74His) | |
| 6 | g.122780449G= | CA1660115308 | FABP7 | c.232G= (p.Asp78=) c.220G= (p.Asp74=) | |
| 6 | g.122780449G>T | CA365489125 | FABP7 | c.232G>T (p.Asp78Tyr) c.220G>T (p.Asp74Tyr) | |
| 6 | g.122780450A= | CA1660115309 | FABP7 | c.233A= (p.Asp78=) c.221A= (p.Asp74=) | |
| 6 | g.122780450A>C | CA365489126 | FABP7 | c.233A>C (p.Asp78Ala) c.221A>C (p.Asp74Ala) | |
| 6 | g.122780450A>G | CA3982907 | FABP7 | c.233A>G (p.Asp78Gly) c.221A>G (p.Asp74Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780450A>T | CA365489127 | FABP7 | c.233A>T (p.Asp78Val) c.221A>T (p.Asp74Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780451_122780456dup | CA147077019 | FABP7 | c.234_239dup (p.Asn80_Cys81insArgAsn) c.222_227dup (p.Asn76_Cys77insArgAsn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780451T>A | CA365489129 | FABP7 | c.234T>A (p.Asp78Glu) c.222T>A (p.Asp74Glu) | |
| 6 | g.122780451T>C | CA451977635 | FABP7 | c.234T>C (p.Asp78=) c.222T>C (p.Asp74=) | gnomAD v4 |
| 6 | g.122780451T>G | CA365489128 | FABP7 | c.234T>G (p.Asp78Glu) c.222T>G (p.Asp74Glu) | |
| 6 | g.122780452A= | CA1660115310 | FABP7 | c.235A= (p.Arg79=) c.223A= (p.Arg75=) | |
| 6 | g.122780452A>C | CA451977636 | FABP7 | c.235A>C (p.Arg79=) c.223A>C (p.Arg75=) | |
| 6 | g.122780452A>G | CA365489130 | FABP7 | c.235A>G (p.Arg79Gly) c.223A>G (p.Arg75Gly) | dbSNP gnomAD v4 |
| 6 | g.122780452A>T | CA365489131 | FABP7 | c.235A>T (p.Arg79Ter) c.223A>T (p.Arg75Ter) | |
| 6 | g.122780460_122780474dup | CA2680210788 | FABP7 | c.243_246+11dup c.243_257dup (p.Cys86_Phe87insLysValArgAsnCys) c.231_234+11dup | gnomAD v4 |
| 6 | g.122780453G>A | CA3982908 | FABP7 | c.236G>A (p.Arg79Lys) c.224G>A (p.Arg75Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780453G>C | CA365489132 | FABP7 | c.236G>C (p.Arg79Thr) c.224G>C (p.Arg75Thr) | |
| 6 | g.122780453G= | CA1660115312 | FABP7 | c.236G= (p.Arg79=) c.224G= (p.Arg75=) | |
| 6 | g.122780453G>T | CA3982909 | FABP7 | c.236G>T (p.Arg79Ile) c.224G>T (p.Arg75Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780453_122780454delinsGA | CA1660115311 | FABP7 | c.236_237delinsGA (p.Arg79=) c.224_225delinsGA (p.Arg75=) | |
| 6 | g.122780454A>C | CA365489133 | FABP7 | c.237A>C (p.Arg79Ser) c.225A>C (p.Arg75Ser) | |
| 6 | g.122780454A>G | CA451977637 | FABP7 | c.237A>G (p.Arg79=) c.225A>G (p.Arg75=) | gnomAD v4 |
| 6 | g.122780454A>T | CA365489134 | FABP7 | c.237A>T (p.Arg79Ser) c.225A>T (p.Arg75Ser) | |
| 6 | g.122780456del | CA235538 | FABP7 | c.239del (p.Asn80ThrfsTer27) c.239del (p.Asn80ThrfsTer4) c.227del (p.Asn76ThrfsTer27) | ClinVar dbSNP |
| 6 | g.122780455A= | CA1660115313 | FABP7 | c.238A= (p.Asn80=) c.226A= (p.Asn76=) | |
| 6 | g.122780455A>C | CA3982910 | FABP7 | c.238A>C (p.Asn80His) c.226A>C (p.Asn76His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780455A>G | CA365489135 | FABP7 | c.238A>G (p.Asn80Asp) c.226A>G (p.Asn76Asp) | |
| 6 | g.122780455A>T | CA365489136 | FABP7 | c.238A>T (p.Asn80Tyr) c.226A>T (p.Asn76Tyr) | |
| 6 | g.122780456A>C | CA365489137 | FABP7 | c.239A>C (p.Asn80Thr) c.227A>C (p.Asn76Thr) | |
| 6 | g.122780456A>G | CA365489138 | FABP7 | c.239A>G (p.Asn80Ser) c.227A>G (p.Asn76Ser) | |
| 6 | g.122780456A>T | CA365489139 | FABP7 | c.239A>T (p.Asn80Ile) c.227A>T (p.Asn76Ile) | dbSNP gnomAD v4 |
| 6 | g.122780457C>A | CA365489140 | FABP7 | c.240C>A (p.Asn80Lys) c.228C>A (p.Asn76Lys) | |
| 6 | g.122780457C>G | CA365489141 | FABP7 | c.240C>G (p.Asn80Lys) c.228C>G (p.Asn76Lys) | |
| 6 | g.122780457C>T | CA451977638 | FABP7 | c.240C>T (p.Asn80=) c.228C>T (p.Asn76=) | |
| 6 | g.122780458T>A | CA365489142 | FABP7 | c.241T>A (p.Cys81Ser) c.229T>A (p.Cys77Ser) | gnomAD v4 |
| 6 | g.122780458T>C | CA365489143 | FABP7 | c.241T>C (p.Cys81Arg) c.229T>C (p.Cys77Arg) | COSMIC |
| 6 | g.122780458T>G | CA365489144 | FABP7 | c.241T>G (p.Cys81Gly) c.229T>G (p.Cys77Gly) | dbSNP |
| 6 | g.122780458T= | CA1660115314 | FABP7 | c.241T= (p.Cys81=) c.229T= (p.Cys77=) | |
| 6 | g.122780459G>A | CA365489145 | FABP7 | c.242G>A (p.Cys81Tyr) c.230G>A (p.Cys77Tyr) | |
| 6 | g.122780459G>C | CA365489146 | FABP7 | c.242G>C (p.Cys81Ser) c.230G>C (p.Cys77Ser) | |
| 6 | g.122780459G>T | CA365489147 | FABP7 | c.242G>T (p.Cys81Phe) c.230G>T (p.Cys77Phe) | |
| 6 | g.122780460T>A | CA365489148 | FABP7 | c.243T>A (p.Cys81Ter) c.231T>A (p.Cys77Ter) | |
| 6 | g.122780460T>C | CA451977639 | FABP7 | c.243T>C (p.Cys81=) c.231T>C (p.Cys77=) | dbSNP |
| 6 | g.122780460T>G | CA365489149 | FABP7 | c.243T>G (p.Cys81Trp) c.231T>G (p.Cys77Trp) | gnomAD v4 |
| 6 | g.122780460T= | CA1660115315 | FABP7 | c.243T= (p.Cys81=) c.231T= (p.Cys77=) | |
| 6 | g.122780460_122780461del | CA2680210789 | FABP7 | c.243_244del (p.Cys81Ter) c.231_232del (p.Cys77Ter) | gnomAD v4 |
| 6 | g.122780461A>C | CA365489150 | FABP7 | c.244A>C (p.Lys82Gln) c.232A>C (p.Lys78Gln) | |
| 6 | g.122780461A>G | CA365489151 | FABP7 | c.244A>G (p.Lys82Glu) c.232A>G (p.Lys78Glu) | |
| 6 | g.122780461A>T | CA365489152 | FABP7 | c.244A>T (p.Lys82Ter) c.232A>T (p.Lys78Ter) | |
| 6 | g.122780461_122780475dup | CA3982911 | FABP7 | c.244_246+12dup c.244_258dup (p.Cys86_Phe87insLysValArgAsnCys) c.232_234+12dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780462A>C | CA365489154 | FABP7 | c.245A>C (p.Lys82Thr) c.233A>C (p.Lys78Thr) | |
| 6 | g.122780462A>G | CA365489155 | FABP7 | c.245A>G (p.Lys82Arg) c.233A>G (p.Lys78Arg) | gnomAD v4 |
| 6 | g.122780462A>T | CA365489153 | FABP7 | c.245A>T (p.Lys82Met) c.233A>T (p.Lys78Met) | |
| 6 | g.122780463G>A | CA451977640 | FABP7 | c.246G>A (p.Lys82=) c.234G>A (p.Lys78=) | gnomAD v4 |
| 6 | g.122780463G>C | CA365489156 | FABP7 | c.246G>C (p.Lys82Asn) c.234G>C (p.Lys78Asn) | |
| 6 | g.122780463G>T | CA365489157 | FABP7 | c.246G>T (p.Lys82Asn) c.234G>T (p.Lys78Asn) | |
| 6 | g.122780464G>A | CA365489158 | FABP7 | c.246+1G>A (n.246+1G>A) c.247G>A (p.Val83Met) c.234+1G>A (n.234+1G>A) | |
| 6 | g.122780464G>C | CA365489159 | FABP7 | c.246+1G>C (n.246+1G>C) c.247G>C (p.Val83Leu) c.234+1G>C (n.234+1G>C) | |
| 6 | g.122780464G>T | CA365489160 | FABP7 | c.246+1G>T (n.246+1G>T) c.247G>T (p.Val83Leu) c.234+1G>T (n.234+1G>T) | |
| 6 | g.122780465T>A | CA365489163 | FABP7 | c.246+2T>A (n.246+2T>A) c.248T>A (p.Val83Glu) c.234+2T>A (n.234+2T>A) | |
| 6 | g.122780465T>C | CA365489161 | FABP7 | c.246+2T>C (n.246+2T>C) c.248T>C (p.Val83Ala) c.234+2T>C (n.234+2T>C) | |
| 6 | g.122780465T>G | CA365489162 | FABP7 | c.246+2T>G (n.246+2T>G) c.248T>G (p.Val83Gly) c.234+2T>G (n.234+2T>G) | |
| 6 | g.122780466G>A | CA3982912 | FABP7 | c.246+3G>A (n.246+3G>A) c.249G>A (p.Val83=) c.234+3G>A (n.234+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780466G= | CA1660115316 | FABP7 | c.246+3G= (n.246+3G=) c.249G= (p.Val83=) c.234+3G= (n.234+3G=) | |
| 6 | g.122780467A>T | CA2680210790 | FABP7 | c.246+4A>T (n.246+4A>T) c.250A>T (p.Arg84Ter) c.234+4A>T (n.234+4A>T) | gnomAD v4 |
| 6 | g.122780468G>T | CA2772886465 | FABP7 | c.246+5G>T (n.246+5G>T) c.251G>T (p.Arg84Ile) c.234+5G>T (n.234+5G>T) | |
| 6 | g.122780471A= | CA1660115317 | FABP7 | c.246+8A= (n.246+8A=) c.254A= (p.Asn85=) c.234+8A= (n.234+8A=) | |
| 6 | g.122780471A>T | CA1093957552 | FABP7 | c.246+8A>T (n.246+8A>T) c.254A>T (p.Asn85Ile) c.234+8A>T (n.234+8A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780473T>A | CA2772886466 | FABP7 | c.246+10T>A (n.246+10T>A) c.256T>A (p.Cys86Ser) c.234+10T>A (n.234+10T>A) | |
| 6 | g.122780473T>G | CA570510059 | FABP7 | c.246+10T>G (n.246+10T>G) c.256T>G (p.Cys86Gly) c.234+10T>G (n.234+10T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780473T= | CA1660115318 | FABP7 | c.246+10T= (n.246+10T=) c.256T= (p.Cys86=) c.234+10T= (n.234+10T=) | |
| 6 | g.122780474G>A | CA2680210791 | FABP7 | c.246+11G>A (n.246+11G>A) c.257G>A (p.Cys86Tyr) c.234+11G>A (n.234+11G>A) | gnomAD v4 |
| 6 | g.122780474G= | CA1660115319 | FABP7 | c.246+11G= (n.246+11G=) c.257G= (p.Cys86=) c.234+11G= (n.234+11G=) | |
| 6 | g.122780474G>T | CA1660115320 | FABP7 | c.246+11G>T (n.246+11G>T) c.257G>T (p.Cys86Phe) c.234+11G>T (n.234+11G>T) | dbSNP gnomAD v4 |
| 6 | g.122780475C= | CA1660115321 | FABP7 | c.246+12C= (n.246+12C=) c.258C= (p.Cys86=) c.234+12C= (n.234+12C=) | |
| 6 | g.122780475C>T | CA3982913 | FABP7 | c.246+12C>T (n.246+12C>T) c.258C>T (p.Cys86=) c.234+12C>T (n.234+12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780482_122780484del | CA2680210792 | FABP7 | c.246+19_246+21del (n.246+19_246+21del) c.265_267del (p.Phe89del) c.234+19_234+21del (n.234+19_234+21del) | gnomAD v4 |
| 6 | g.122780476T>G | CA3982914 | FABP7 | c.246+13T>G (n.246+13T>G) c.259T>G (p.Phe87Val) c.234+13T>G (n.234+13T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780476T= | CA1660115322 | FABP7 | c.246+13T= (n.246+13T=) c.259T= (p.Phe87=) c.234+13T= (n.234+13T=) | |
| 6 | g.122780477T>C | CA1660115324 | FABP7 | c.246+14T>C (n.246+14T>C) c.260T>C (p.Phe87Ser) c.234+14T>C (n.234+14T>C) | dbSNP |
| 6 | g.122780477T>G | CA570510060 | FABP7 | c.246+14T>G (n.246+14T>G) c.260T>G (p.Phe87Cys) c.234+14T>G (n.234+14T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780477T= | CA1660115323 | FABP7 | c.246+14T= (n.246+14T=) c.260T= (p.Phe87=) c.234+14T= (n.234+14T=) | |
| 6 | g.122780478C>A | CA2680210793 | FABP7 | c.246+15C>A (n.246+15C>A) c.261C>A (p.Phe87Leu) c.234+15C>A (n.234+15C>A) | gnomAD v4 |
| 6 | g.122780479T>C | CA2680210794 | FABP7 | c.246+16T>C (n.246+16T>C) c.262T>C (p.Phe88Leu) c.234+16T>C (n.234+16T>C) | gnomAD v4 |
| 6 | g.122780483T>C | CA2713061061 | FABP7 | c.246+20T>C (n.246+20T>C) c.266T>C (p.Phe89Ser) c.234+20T>C (n.234+20T>C) | dbSNP |
| 6 | g.122780484C>A | CA3982915 | FABP7 | c.246+21C>A (n.246+21C>A) c.267C>A (p.Phe89Leu) c.234+21C>A (n.234+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780484C= | CA1660115325 | FABP7 | c.246+21C= (n.246+21C=) c.267C= (p.Phe89=) c.234+21C= (n.234+21C=) | |
| 6 | g.122780485A= | CA1660115326 | FABP7 | c.246+22A= (n.246+22A=) c.268A= (p.Arg90=) c.234+22A= (n.234+22A=) | |
| 6 | g.122780485A>G | CA1660115327 | FABP7 | c.246+22A>G (n.246+22A>G) c.268A>G (p.Arg90Gly) c.234+22A>G (n.234+22A>G) | dbSNP |
| 6 | g.122780487A= | CA1660115328 | FABP7 | c.246+24A= (n.246+24A=) c.270A= (p.Arg90=) c.234+24A= (n.234+24A=) | |
| 6 | g.122780487A>G | CA3982916 | FABP7 | c.246+24A>G (n.246+24A>G) c.270A>G (p.Arg90=) c.234+24A>G (n.234+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780487A>T | CA818250433 | FABP7 | c.246+24A>T (n.246+24A>T) c.270A>T (p.Arg90Ser) c.234+24A>T (n.234+24A>T) | dbSNP |
| 6 | g.122780488G>A | CA2680210795 | FABP7 | c.246+25G>A (n.246+25G>A) c.271G>A (p.Val91Met) c.234+25G>A (n.234+25G>A) | gnomAD v4 |
| 6 | g.122780488G>C | CA2578729624 | FABP7 | c.246+25G>C (n.246+25G>C) c.271G>C (p.Val91Leu) c.234+25G>C (n.234+25G>C) | |
| 6 | g.122780488G= | CA1660115329 | FABP7 | c.246+25G= (n.246+25G=) c.271G= (p.Val91=) c.234+25G= (n.234+25G=) | |
| 6 | g.122780488G>T | CA570510061 | FABP7 | c.246+25G>T (n.246+25G>T) c.271G>T (p.Val91Leu) c.234+25G>T (n.234+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780495_122780500del | CA2680210796 | FABP7 | c.246+32_246+37del (n.246+32_246+37del) c.278_283del (p.Met93_Gly94del) c.234+32_234+37del (n.234+32_234+37del) | gnomAD v4 |
| 6 | g.122780490G>T | CA2680210799 | FABP7 | c.246+27G>T (n.246+27G>T) c.273G>T (p.Val91=) c.234+27G>T (n.234+27G>T) | gnomAD v4 |
| 6 | g.122780493del | CA2680210797 | FABP7 | c.246+30del (n.246+30del) c.276del (p.Met93TrpfsTer22) c.234+30del (n.234+30del) | gnomAD v4 |
| 6 | g.122780495_122780507del | CA2680210798 | FABP7 | c.246+32_246+44del (n.246+32_246+44del) c.278_290del (p.Met93AsnfsTer18) c.234+32_234+44del (n.234+32_234+44del) | gnomAD v4 |
| 6 | g.122780491G>A | CA2680210800 | FABP7 | c.246+28G>A (n.246+28G>A) c.274G>A (p.Gly92Arg) c.234+28G>A (n.234+28G>A) | gnomAD v4 |
| 6 | g.122780491G>T | CA2680210801 | FABP7 | c.246+28G>T (n.246+28G>T) c.274G>T (p.Gly92Trp) c.234+28G>T (n.234+28G>T) | gnomAD v4 |
| 6 | g.122780492G>A | CA2578729625 | FABP7 | c.246+29G>A (n.246+29G>A) c.275G>A (p.Gly92Glu) c.234+29G>A (n.234+29G>A) | |
| 6 | g.122780492G= | CA1660115330 | FABP7 | c.246+29G= (n.246+29G=) c.275G= (p.Gly92=) c.234+29G= (n.234+29G=) | |
| 6 | g.122780492G>T | CA1660115331 | FABP7 | c.246+29G>T (n.246+29G>T) c.275G>T (p.Gly92Val) c.234+29G>T (n.234+29G>T) | dbSNP gnomAD v4 |
| 6 | g.122780493G>A | CA2578729626 | FABP7 | c.246+30G>A (n.246+30G>A) c.276G>A (p.Gly92=) c.234+30G>A (n.234+30G>A) | |
| 6 | g.122780493G= | CA1660115332 | FABP7 | c.246+30G= (n.246+30G=) c.276G= (p.Gly92=) c.234+30G= (n.234+30G=) | |
| 6 | g.122780493G>T | CA570510062 | FABP7 | c.246+30G>T (n.246+30G>T) c.276G>T (p.Gly92=) c.234+30G>T (n.234+30G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780494A>G | CA2680210802 | FABP7 | c.246+31A>G (n.246+31A>G) c.277A>G (p.Met93Val) c.234+31A>G (n.234+31A>G) | gnomAD v4 |
| 6 | g.122780495del | CA2680210803 | FABP7 | c.246+32del (n.246+32del) c.278del (p.Met93ArgfsTer22) c.234+32del (n.234+32del) | dbSNP gnomAD v4 |
| 6 | g.122780495T>A | CA2772886467 | FABP7 | c.246+32T>A (n.246+32T>A) c.278T>A (p.Met93Lys) c.234+32T>A (n.234+32T>A) | |
| 6 | g.122780495T>C | CA2772886468 | FABP7 | c.246+32T>C (n.246+32T>C) c.278T>C (p.Met93Thr) c.234+32T>C (n.234+32T>C) | |
| 6 | g.122780495T>G | CA2713061119 | FABP7 | c.246+32T>G (n.246+32T>G) c.278T>G (p.Met93Arg) c.234+32T>G (n.234+32T>G) | dbSNP |
| 6 | g.122780496G>A | CA2680210805 | FABP7 | c.246+33G>A (n.246+33G>A) c.279G>A (p.Met93Ile) c.234+33G>A (n.234+33G>A) | gnomAD v4 |
| 6 | g.122780496G>T | CA2680210806 | FABP7 | c.246+33G>T (n.246+33G>T) c.279G>T (p.Met93Ile) c.234+33G>T (n.234+33G>T) | gnomAD v4 |
| 6 | g.122780499dup | CA2772886469 | FABP7 | c.246+36dup (n.246+36dup) c.282dup (p.Arg95GlufsTer15) c.234+36dup (n.234+36dup) | |
| 6 | g.122780501_122780507del | CA2680210804 | FABP7 | c.246+38_246+44del (n.246+38_246+44del) c.284_290del (p.Arg95AsnfsTer18) c.234+38_234+44del (n.234+38_234+44del) | gnomAD v4 |
| 6 | g.122780497G>C | CA3982917 | FABP7 | c.246+34G>C (n.246+34G>C) c.280G>C (p.Gly94Arg) c.234+34G>C (n.234+34G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780497G= | CA1660115333 | FABP7 | c.246+34G= (n.246+34G=) c.280G= (p.Gly94=) c.234+34G= (n.234+34G=) | |
| 6 | g.122780497G>T | CA2680210807 | FABP7 | c.246+34G>T (n.246+34G>T) c.280G>T (p.Gly94Trp) c.234+34G>T (n.234+34G>T) | gnomAD v4 |
| 6 | g.122780500_122780505del | CA2680210808 | FABP7 | c.246+37_246+42del (n.246+37_246+42del) c.283_288del (p.Arg95_Gly96del) c.234+37_234+42del (n.234+37_234+42del) | gnomAD v4 |
| 6 | g.122780498G>A | CA147077138 | FABP7 | c.246+35G>A (n.246+35G>A) c.281G>A (p.Gly94Glu) c.234+35G>A (n.234+35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780498G= | CA1660115334 | FABP7 | c.246+35G= (n.246+35G=) c.281G= (p.Gly94=) c.234+35G= (n.234+35G=) | |
| 6 | g.122780498G>T | CA2680210810 | FABP7 | c.246+35G>T (n.246+35G>T) c.281G>T (p.Gly94Val) c.234+35G>T (n.234+35G>T) | gnomAD v4 |
| 6 | g.122780500_122780504del | CA2680210809 | FABP7 | c.246+37_246+41del (n.246+37_246+41del) c.283_287del (p.Arg95GlyfsTer13) c.234+37_234+41del (n.234+37_234+41del) | dbSNP gnomAD v4 |
| 6 | g.122780499G>A | CA2680210811 | FABP7 | c.246+36G>A (n.246+36G>A) c.282G>A (p.Gly94=) c.234+36G>A (n.234+36G>A) | gnomAD v4 |
| 6 | g.122780499G>T | CA2680210812 | FABP7 | c.246+36G>T (n.246+36G>T) c.282G>T (p.Gly94=) c.234+36G>T (n.234+36G>T) | gnomAD v4 |
| 6 | g.122780499_122780520delinsGAGAGGGGAATAAAGATAAAGA | CA1660115335 | FABP7 | c.246+36_246+57delinsGAGAGGGGAATAAAGATAAAGA (n.246+36_246+57delinsGAGAGGGGAATAAAGATAAAGA) c.282_*9delinsGAGAGGGGAATAAAGATAAAGA (n.[c.282_*9delinsGAGAGGGGAATAAAGATAAAGA;Gly94=]) c.234+36_234+57delinsGAGAGGGGAATAAAGATAAAGA (n.234+36_234+57delinsGAGAGGGGAATAAAGATAAAGA) | |
| 6 | g.122780500A= | CA1660115336 | FABP7 | c.246+37A= (n.246+37A=) c.283A= (p.Arg95=) c.234+37A= (n.234+37A=) | |
| 6 | g.122780500A>T | CA2680210813 | FABP7 | c.246+37A>T (n.246+37A>T) c.283A>T (p.Arg95Ter) c.234+37A>T (n.234+37A>T) | gnomAD v4 |
| 6 | g.122780500_122780520del | CA3982918 | FABP7 | c.246+37_246+57del (n.246+37_246+57del) c.283_*9del (n.[c.283_*9del;Arg95PhefsTer30]) c.234+37_234+57del (n.234+37_234+57del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780501G>A | CA2680210814 | FABP7 | c.246+38G>A (n.246+38G>A) c.284G>A (p.Arg95Lys) c.234+38G>A (n.234+38G>A) | gnomAD v4 |
| 6 | g.122780501G>C | CA3982919 | FABP7 | c.246+38G>C (n.246+38G>C) c.284G>C (p.Arg95Thr) c.234+38G>C (n.234+38G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780501G= | CA1660115337 | FABP7 | c.246+38G= (n.246+38G=) c.284G= (p.Arg95=) c.234+38G= (n.234+38G=) | |
| 6 | g.122780501G>T | CA2680210815 | FABP7 | c.246+38G>T (n.246+38G>T) c.284G>T (p.Arg95Ile) c.234+38G>T (n.234+38G>T) | gnomAD v4 |
| 6 | g.122780501_122780502insGGGG | CA2712817165 | FABP7 | c.246+38_246+39insGGGG (n.246+38_246+39insGGGG) c.284_285insGGGG (p.Glu97ArgfsTer14) c.234+38_234+39insGGGG (n.234+38_234+39insGGGG) | dbSNP |
| 6 | g.122780501dup | CA570510063 | FABP7 | c.246+38dup (n.246+38dup) c.284dup (p.Gly96ArgfsTer14) c.234+38dup (n.234+38dup) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780502del | CA2680210816 | FABP7 | c.246+39del (n.246+39del) c.285del (p.Glu97AsnfsTer18) c.234+39del (n.234+39del) | gnomAD v4 |
| 6 | g.122780502A= | CA1660115340 | FABP7 | c.246+39A= (n.246+39A=) c.285A= (p.Arg95=) c.234+39A= (n.234+39A=) | |
| 6 | g.122780502A>C | CA1660115339 | FABP7 | c.246+39A>C (n.246+39A>C) c.285A>C (p.Arg95Ser) c.234+39A>C (n.234+39A>C) | dbSNP gnomAD v4 |
| 6 | g.122780502A>G | CA3982920 | FABP7 | c.246+39A>G (n.246+39A>G) c.285A>G (p.Arg95=) c.234+39A>G (n.234+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780502A>T | CA1660115338 | FABP7 | c.246+39A>T (n.246+39A>T) c.285A>T (p.Arg95Ser) c.234+39A>T (n.234+39A>T) | dbSNP gnomAD v4 |
| 6 | g.122780503G>A | CA2680210817 | FABP7 | c.246+40G>A (n.246+40G>A) c.286G>A (p.Gly96Arg) c.234+40G>A (n.234+40G>A) | gnomAD v4 |
| 6 | g.122780503G>C | CA818250470 | FABP7 | c.246+40G>C (n.246+40G>C) c.286G>C (p.Gly96Arg) c.234+40G>C (n.234+40G>C) | dbSNP gnomAD v4 |
| 6 | g.122780503G= | CA1660115341 | FABP7 | c.246+40G= (n.246+40G=) c.286G= (p.Gly96=) c.234+40G= (n.234+40G=) | |
| 6 | g.122780503G>T | CA2680210818 | FABP7 | c.246+40G>T (n.246+40G>T) c.286G>T (p.Gly96Trp) c.234+40G>T (n.234+40G>T) | gnomAD v4 |
| 6 | g.122780506dup | CA651359899 | FABP7 | c.246+43dup (n.246+43dup) c.289dup (p.Glu97GlyfsTer13) c.234+43dup (n.234+43dup) | |
| 6 | g.122780504G>A | CA2680210819 | FABP7 | c.246+41G>A (n.246+41G>A) c.287G>A (p.Gly96Glu) c.234+41G>A (n.234+41G>A) | gnomAD v4 |
| 6 | g.122780504G>T | CA2680210820 | FABP7 | c.246+41G>T (n.246+41G>T) c.287G>T (p.Gly96Val) c.234+41G>T (n.234+41G>T) | gnomAD v4 |
| 6 | g.122780505G>A | CA651359900 | FABP7 | c.246+42G>A (n.246+42G>A) c.288G>A (p.Gly96=) c.234+42G>A (n.234+42G>A) | gnomAD v4 COSMIC |
| 6 | g.122780505G>C | CA2680210821 | FABP7 | c.246+42G>C (n.246+42G>C) c.288G>C (p.Gly96=) c.234+42G>C (n.234+42G>C) | gnomAD v4 |
| 6 | g.122780506G>A | CA2578729627 | FABP7 | c.246+43G>A (n.246+43G>A) c.289G>A (p.Glu97Lys) c.234+43G>A (n.234+43G>A) | gnomAD v4 |
| 6 | g.122780506G>C | CA818250473 | FABP7 | c.246+43G>C (n.246+43G>C) c.289G>C (p.Glu97Gln) c.234+43G>C (n.234+43G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.122780506G= | CA1660115342 | FABP7 | c.246+43G= (n.246+43G=) c.289G= (p.Glu97=) c.234+43G= (n.234+43G=) | |
| 6 | g.122780507A= | CA1660115343 | FABP7 | c.246+44A= (n.246+44A=) c.290A= (p.Glu97=) c.234+44A= (n.234+44A=) | |
| 6 | g.122780507A>G | CA570510064 | FABP7 | c.246+44A>G (n.246+44A>G) c.290A>G (p.Glu97Gly) c.234+44A>G (n.234+44A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.122780509T>A | CA2680210822 | FABP7 | c.246+46T>A (n.246+46T>A) c.292T>A (p.Ter98Lys) c.234+46T>A (n.234+46T>A) | gnomAD v4 |
| 6 | g.122780509T>C | CA2680210823 | FABP7 | c.246+46T>C (n.246+46T>C) c.292T>C (p.Ter98Gln) c.234+46T>C (n.234+46T>C) | gnomAD v4 |
| 6 | g.122780509T>G | CA2680210824 | FABP7 | c.246+46T>G (n.246+46T>G) c.292T>G (p.Ter98Glu) c.234+46T>G (n.234+46T>G) | gnomAD v4 |
| 6 | g.122780511A>T | CA2713061200 | FABP7 | c.246+48A>T (n.246+48A>T) c.294A>T (p.Ter98Tyr) c.234+48A>T (n.234+48A>T) | dbSNP |
| 6 | g.122780513G>A | CA2680210825 | FABP7 | c.246+50G>A (n.246+50G>A) c.*2G>A (n.*2G>A) c.234+50G>A (n.234+50G>A) | gnomAD v4 |
| 6 | g.122780514A>G | CA2680210826 | FABP7 | c.246+51A>G (n.246+51A>G) c.*3A>G (n.*3A>G) c.234+51A>G (n.234+51A>G) | gnomAD v4 |
| 6 | g.122780515T>C | CA2680210827 | FABP7 | c.246+52T>C (n.246+52T>C) c.*4T>C (n.*4T>C) c.234+52T>C (n.234+52T>C) | gnomAD v4 |
| 6 | g.122780518A= | CA1660115344 | FABP7 | c.246+55A= (n.246+55A=) c.*7A= (n.*7A=) c.234+55A= (n.234+55A=) | |
| 6 | g.122780518A>G | CA3982921 | FABP7 | c.246+55A>G (n.246+55A>G) c.*7A>G (n.*7A>G) c.234+55A>G (n.234+55A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780519G= | CA1660115345 | FABP7 | c.246+56G= (n.246+56G=) c.*8G= (n.*8G=) c.234+56G= (n.234+56G=) | |
| 6 | g.122780519G>T | CA1660115346 | FABP7 | c.246+56G>T (n.246+56G>T) c.*8G>T (n.*8G>T) c.234+56G>T (n.234+56G>T) | dbSNP gnomAD v4 |
| 6 | g.122780520_122780521delinsAT | CA1660115347 | FABP7 | c.246+57_246+58delinsAT (n.246+57_246+58delinsAT) c.*9_*10delinsAT (n.*9_*10delinsAT) c.234+57_234+58delinsAT (n.234+57_234+58delinsAT) | |
| 6 | g.122780523del | CA3982922 | FABP7 | c.246+60del (n.246+60del) c.*12del (n.*12del) c.234+60del (n.234+60del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.122780522T>C | CA2680210828 | FABP7 | c.246+59T>C (n.246+59T>C) c.*11T>C (n.*11T>C) c.234+59T>C (n.234+59T>C) | gnomAD v4 |
| 6 | g.122780523T>A | CA2680210829 | FABP7 | c.246+60T>A (n.246+60T>A) c.*12T>A (n.*12T>A) c.234+60T>A (n.234+60T>A) | gnomAD v4 |
| 6 | g.122780523T>C | CA3982923 | FABP7 | c.246+60T>C (n.246+60T>C) c.*12T>C (n.*12T>C) c.234+60T>C (n.234+60T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.122780523T>G | CA2680210830 | FABP7 | c.246+60T>G (n.246+60T>G) c.*12T>G (n.*12T>G) c.234+60T>G (n.234+60T>G) | gnomAD v4 |
| 6 | g.122780523T= | CA1660115348 | FABP7 | c.246+60T= (n.246+60T=) c.*12T= (n.*12T=) c.234+60T= (n.234+60T=) | |
| 6 | g.122780524C>A | CA2680210831 | FABP7 | c.246+61C>A (n.246+61C>A) c.*13C>A (n.*13C>A) c.234+61C>A (n.234+61C>A) | gnomAD v4 |
| 6 | g.122780524C>T | CA2680210832 | FABP7 | c.246+61C>T (n.246+61C>T) c.*13C>T (n.*13C>T) c.234+61C>T (n.234+61C>T) | gnomAD v4 |