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 |
|---|---|---|---|---|---|
| 16 | g.51141172G>A | CA495781167 | SALL1 | c.1050C>T (p.Thr350=) c.759C>T (p.Thr253=) c.77-3620C>T (n.77-3620C>T) | dbSNP |
| 16 | g.51141172G>C | CA495781168 | SALL1 | c.1050C>G (p.Thr350=) c.759C>G (p.Thr253=) c.77-3620C>G (n.77-3620C>G) | |
| 16 | g.51141172G= | CA2222021540 | SALL1 | c.1050C= (p.Thr350=) c.759C= (p.Thr253=) c.77-3620C= (n.77-3620C=) | |
| 16 | g.51141172G>T | CA495781169 | SALL1 | c.1050C>A (p.Thr350=) c.759C>A (p.Thr253=) c.77-3620C>A (n.77-3620C>A) | |
| 16 | g.51141173G>A | CA8053349 | SALL1 | c.1049C>T (p.Thr350Ile) c.758C>T (p.Thr253Ile) c.77-3621C>T (n.77-3621C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141173G>C | CA395889820 | SALL1 | c.1049C>G (p.Thr350Ser) c.758C>G (p.Thr253Ser) c.77-3621C>G (n.77-3621C>G) | |
| 16 | g.51141173G= | CA2222021545 | SALL1 | c.1049C= (p.Thr350=) c.758C= (p.Thr253=) c.77-3621C= (n.77-3621C=) | |
| 16 | g.51141173G>T | CA395889823 | SALL1 | c.1049C>A (p.Thr350Asn) c.758C>A (p.Thr253Asn) c.77-3621C>A (n.77-3621C>A) | |
| 16 | g.51141174T>A | CA395889825 | SALL1 | c.1048A>T (p.Thr350Ser) c.757A>T (p.Thr253Ser) c.77-3622A>T (n.77-3622A>T) | |
| 16 | g.51141174T>C | CA395889827 | SALL1 | c.1048A>G (p.Thr350Ala) c.757A>G (p.Thr253Ala) c.77-3622A>G (n.77-3622A>G) | |
| 16 | g.51141174T>G | CA395889829 | SALL1 | c.1048A>C (p.Thr350Pro) c.757A>C (p.Thr253Pro) c.77-3622A>C (n.77-3622A>C) | |
| 16 | g.51141175G>A | CA495781177 | SALL1 | c.1047C>T (p.Thr349=) c.756C>T (p.Thr252=) c.77-3623C>T (n.77-3623C>T) | |
| 16 | g.51141175G>C | CA495781176 | SALL1 | c.1047C>G (p.Thr349=) c.756C>G (p.Thr252=) c.77-3623C>G (n.77-3623C>G) | |
| 16 | g.51141175G>T | CA495781175 | SALL1 | c.1047C>A (p.Thr349=) c.756C>A (p.Thr252=) c.77-3623C>A (n.77-3623C>A) | |
| 16 | g.51141176dup | CA2695223393 | SALL1 | c.1047dup (p.Thr350HisfsTer5) c.756dup (p.Thr253HisfsTer5) c.77-3623dup (n.77-3623dup) | |
| 16 | g.51141176G>A | CA8053350 | SALL1 | c.1046C>T (p.Thr349Ile) c.755C>T (p.Thr252Ile) c.77-3624C>T (n.77-3624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141176G>C | CA395889832 | SALL1 | c.1046C>G (p.Thr349Ser) c.755C>G (p.Thr252Ser) c.77-3624C>G (n.77-3624C>G) | gnomAD v4 |
| 16 | g.51141176G= | CA2222021548 | SALL1 | c.1046C= (p.Thr349=) c.755C= (p.Thr252=) c.77-3624C= (n.77-3624C=) | |
| 16 | g.51141176G>T | CA395889834 | SALL1 | c.1046C>A (p.Thr349Asn) c.755C>A (p.Thr252Asn) c.77-3624C>A (n.77-3624C>A) | |
| 16 | g.51141177T>A | CA395889838 | SALL1 | c.1045A>T (p.Thr349Ser) c.754A>T (p.Thr252Ser) c.77-3625A>T (n.77-3625A>T) | dbSNP gnomAD v4 |
| 16 | g.51141177T>C | CA395889845 | SALL1 | c.1045A>G (p.Thr349Ala) c.754A>G (p.Thr252Ala) c.77-3625A>G (n.77-3625A>G) | gnomAD v4 |
| 16 | g.51141177T>G | CA395889837 | SALL1 | c.1045A>C (p.Thr349Pro) c.754A>C (p.Thr252Pro) c.77-3625A>C (n.77-3625A>C) | |
| 16 | g.51141177T= | CA2222021551 | SALL1 | c.1045A= (p.Thr349=) c.754A= (p.Thr252=) c.77-3625A= (n.77-3625A=) | |
| 16 | g.51141177dup | CA2695223395 | SALL1 | c.1045dup (p.Thr349AsnfsTer6) c.754dup (p.Thr252AsnfsTer6) c.77-3625dup (n.77-3625dup) | |
| 16 | g.51141178A= | CA2222021553 | SALL1 | c.1044T= (p.Val348=) c.753T= (p.Val251=) c.77-3626T= (n.77-3626T=) | |
| 16 | g.51141178A>C | CA495781182 | SALL1 | c.1044T>G (p.Val348=) c.753T>G (p.Val251=) c.77-3626T>G (n.77-3626T>G) | |
| 16 | g.51141178A>G | CA495781180 | SALL1 | c.1044T>C (p.Val348=) c.753T>C (p.Val251=) c.77-3626T>C (n.77-3626T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141178A>T | CA495781178 | SALL1 | c.1044T>A (p.Val348=) c.753T>A (p.Val251=) c.77-3626T>A (n.77-3626T>A) | |
| 16 | g.51141179A= | CA2222021557 | SALL1 | c.1043T= (p.Val348=) c.752T= (p.Val251=) c.77-3627T= (n.77-3627T=) | |
| 16 | g.51141179A>C | CA395889847 | SALL1 | c.1043T>G (p.Val348Gly) c.752T>G (p.Val251Gly) c.77-3627T>G (n.77-3627T>G) | |
| 16 | g.51141179A>G | CA395889849 | SALL1 | c.1043T>C (p.Val348Ala) c.752T>C (p.Val251Ala) c.77-3627T>C (n.77-3627T>C) | |
| 16 | g.51141179A>T | CA395889853 | SALL1 | c.1043T>A (p.Val348Asp) c.752T>A (p.Val251Asp) c.77-3627T>A (n.77-3627T>A) | |
| 16 | g.51141179_51141180insACC | CA281302751 | SALL1 | c.1042_1043insGGT (p.Val348delinsGlyPhe) c.751_752insGGT (p.Val251delinsGlyPhe) c.77-3628_77-3627insGGT (n.77-3628_77-3627insGGT) | dbSNP |
| 16 | g.51141180C>A | CA395889859 | SALL1 | c.1042G>T (p.Val348Phe) c.751G>T (p.Val251Phe) c.77-3628G>T (n.77-3628G>T) | |
| 16 | g.51141180C= | CA2222021567 | SALL1 | c.1042G= (p.Val348=) c.751G= (p.Val251=) c.77-3628G= (n.77-3628G=) | |
| 16 | g.51141180C>G | CA395889858 | SALL1 | c.1042G>C (p.Val348Leu) c.751G>C (p.Val251Leu) c.77-3628G>C (n.77-3628G>C) | |
| 16 | g.51141180C>T | CA395889856 | SALL1 | c.1042G>A (p.Val348Ile) c.751G>A (p.Val251Ile) c.77-3628G>A (n.77-3628G>A) | dbSNP gnomAD v2 |
| 16 | g.51141181T>A | CA495781184 | SALL1 | c.1041A>T (p.Ala347=) c.750A>T (p.Ala250=) c.77-3629A>T (n.77-3629A>T) | |
| 16 | g.51141181T>C | CA495781186 | SALL1 | c.1041A>G (p.Ala347=) c.750A>G (p.Ala250=) c.77-3629A>G (n.77-3629A>G) | |
| 16 | g.51141181T>G | CA495781185 | SALL1 | c.1041A>C (p.Ala347=) c.750A>C (p.Ala250=) c.77-3629A>C (n.77-3629A>C) | |
| 16 | g.51141182G>A | CA281302754 | SALL1 | c.1040C>T (p.Ala347Val) c.749C>T (p.Ala250Val) c.77-3630C>T (n.77-3630C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141182G>C | CA395889862 | SALL1 | c.1040C>G (p.Ala347Gly) c.749C>G (p.Ala250Gly) c.77-3630C>G (n.77-3630C>G) | |
| 16 | g.51141182G= | CA2222021578 | SALL1 | c.1040C= (p.Ala347=) c.749C= (p.Ala250=) c.77-3630C= (n.77-3630C=) | |
| 16 | g.51141182G>T | CA395889863 | SALL1 | c.1040C>A (p.Ala347Glu) c.749C>A (p.Ala250Glu) c.77-3630C>A (n.77-3630C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141183C>A | CA395889864 | SALL1 | c.1039G>T (p.Ala347Ser) c.748G>T (p.Ala250Ser) c.77-3631G>T (n.77-3631G>T) | |
| 16 | g.51141183C>G | CA395889865 | SALL1 | c.1039G>C (p.Ala347Pro) c.748G>C (p.Ala250Pro) c.77-3631G>C (n.77-3631G>C) | |
| 16 | g.51141183C>T | CA395889866 | SALL1 | c.1039G>A (p.Ala347Thr) c.748G>A (p.Ala250Thr) c.77-3631G>A (n.77-3631G>A) | gnomAD v4 |
| 16 | g.51141184C>A | CA495781189 | SALL1 | c.1038G>T (p.Ala346=) c.747G>T (p.Ala249=) c.77-3632G>T (n.77-3632G>T) | |
| 16 | g.51141184C= | CA2222021581 | SALL1 | c.1038G= (p.Ala346=) c.747G= (p.Ala249=) c.77-3632G= (n.77-3632G=) | |
| 16 | g.51141184C>G | CA495781191 | SALL1 | c.1038G>C (p.Ala346=) c.747G>C (p.Ala249=) c.77-3632G>C (n.77-3632G>C) | gnomAD v4 |
| 16 | g.51141184C>T | CA8053351 | SALL1 | c.1038G>A (p.Ala346=) c.747G>A (p.Ala249=) c.77-3632G>A (n.77-3632G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141185G>A | CA8053352 | SALL1 | c.1037C>T (p.Ala346Val) c.746C>T (p.Ala249Val) c.77-3633C>T (n.77-3633C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51141185G>C | CA395889871 | SALL1 | c.1037C>G (p.Ala346Gly) c.746C>G (p.Ala249Gly) c.77-3633C>G (n.77-3633C>G) | dbSNP gnomAD v2 |
| 16 | g.51141185G= | CA2222021587 | SALL1 | c.1037C= (p.Ala346=) c.746C= (p.Ala249=) c.77-3633C= (n.77-3633C=) | |
| 16 | g.51141185G>T | CA395889868 | SALL1 | c.1037C>A (p.Ala346Glu) c.746C>A (p.Ala249Glu) c.77-3633C>A (n.77-3633C>A) | |
| 16 | g.51141186C>A | CA395889873 | SALL1 | c.1036G>T (p.Ala346Ser) c.745G>T (p.Ala249Ser) c.77-3634G>T (n.77-3634G>T) | |
| 16 | g.51141186C>G | CA395889872 | SALL1 | c.1036G>C (p.Ala346Pro) c.745G>C (p.Ala249Pro) c.77-3634G>C (n.77-3634G>C) | |
| 16 | g.51141186C>T | CA395889876 | SALL1 | c.1036G>A (p.Ala346Thr) c.745G>A (p.Ala249Thr) c.77-3634G>A (n.77-3634G>A) | gnomAD v4 |
| 16 | g.51141187T>A | CA495781193 | SALL1 | c.1035A>T (p.Ala345=) c.744A>T (p.Ala248=) c.77-3635A>T (n.77-3635A>T) | |
| 16 | g.51141187T>C | CA495781194 | SALL1 | c.1035A>G (p.Ala345=) c.744A>G (p.Ala248=) c.77-3635A>G (n.77-3635A>G) | |
| 16 | g.51141187T>G | CA495781195 | SALL1 | c.1035A>C (p.Ala345=) c.744A>C (p.Ala248=) c.77-3635A>C (n.77-3635A>C) | |
| 16 | g.51141188G>A | CA395889878 | SALL1 | c.1034C>T (p.Ala345Val) c.743C>T (p.Ala248Val) c.77-3636C>T (n.77-3636C>T) | |
| 16 | g.51141188G>C | CA395889882 | SALL1 | c.1034C>G (p.Ala345Gly) c.743C>G (p.Ala248Gly) c.77-3636C>G (n.77-3636C>G) | |
| 16 | g.51141188G>T | CA395889881 | SALL1 | c.1034C>A (p.Ala345Glu) c.743C>A (p.Ala248Glu) c.77-3636C>A (n.77-3636C>A) | |
| 16 | g.51141189C>A | CA395889884 | SALL1 | c.1033G>T (p.Ala345Ser) c.742G>T (p.Ala248Ser) c.77-3637G>T (n.77-3637G>T) | |
| 16 | g.51141189C>G | CA395889885 | SALL1 | c.1033G>C (p.Ala345Pro) c.742G>C (p.Ala248Pro) c.77-3637G>C (n.77-3637G>C) | |
| 16 | g.51141189C>T | CA395889888 | SALL1 | c.1033G>A (p.Ala345Thr) c.742G>A (p.Ala248Thr) c.77-3637G>A (n.77-3637G>A) | gnomAD v4 |
| 16 | g.51141190C>A | CA395889890 | SALL1 | c.1032G>T (p.Leu344Phe) c.741G>T (p.Leu247Phe) c.77-3638G>T (n.77-3638G>T) | |
| 16 | g.51141190C= | CA2222021592 | SALL1 | c.1032G= (p.Leu344=) c.741G= (p.Leu247=) c.77-3638G= (n.77-3638G=) | |
| 16 | g.51141190C>G | CA395889892 | SALL1 | c.1032G>C (p.Leu344Phe) c.741G>C (p.Leu247Phe) c.77-3638G>C (n.77-3638G>C) | |
| 16 | g.51141190C>T | CA495781196 | SALL1 | c.1032G>A (p.Leu344=) c.741G>A (p.Leu247=) c.77-3638G>A (n.77-3638G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141191A>C | CA395889897 | SALL1 | c.1031T>G (p.Leu344Trp) c.740T>G (p.Leu247Trp) c.77-3639T>G (n.77-3639T>G) | |
| 16 | g.51141191A>G | CA395889899 | SALL1 | c.1031T>C (p.Leu344Ser) c.740T>C (p.Leu247Ser) c.77-3639T>C (n.77-3639T>C) | |
| 16 | g.51141191A>T | CA395889900 | SALL1 | c.1031T>A (p.Leu344Ter) c.740T>A (p.Leu247Ter) c.77-3639T>A (n.77-3639T>A) | |
| 16 | g.51141192A= | CA2222021594 | SALL1 | c.1030T= (p.Leu344=) c.739T= (p.Leu247=) c.77-3640T= (n.77-3640T=) | |
| 16 | g.51141192A>C | CA395889902 | SALL1 | c.1030T>G (p.Leu344Val) c.739T>G (p.Leu247Val) c.77-3640T>G (n.77-3640T>G) | |
| 16 | g.51141192A>G | CA495781202 | SALL1 | c.1030T>C (p.Leu344=) c.739T>C (p.Leu247=) c.77-3640T>C (n.77-3640T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141192A>T | CA395889903 | SALL1 | c.1030T>A (p.Leu344Met) c.739T>A (p.Leu247Met) c.77-3640T>A (n.77-3640T>A) | |
| 16 | g.51141194_51141195del | CA2695223396 | SALL1 | c.1029_1030del (p.Leu344GlyfsTer10) c.738_739del (p.Leu247GlyfsTer10) c.77-3641_77-3640del (n.77-3641_77-3640del) | |
| 16 | g.51141193T>A | CA495781204 | SALL1 | c.1029A>T (p.Ile343=) c.738A>T (p.Ile246=) c.77-3641A>T (n.77-3641A>T) | |
| 16 | g.51141193T>C | CA281302765 | SALL1 | c.1029A>G (p.Ile343Met) c.738A>G (p.Ile246Met) c.77-3641A>G (n.77-3641A>G) | dbSNP gnomAD v4 |
| 16 | g.51141193T>G | CA495781205 | SALL1 | c.1029A>C (p.Ile343=) c.738A>C (p.Ile246=) c.77-3641A>C (n.77-3641A>C) | |
| 16 | g.51141193T= | CA2222021597 | SALL1 | c.1029A= (p.Ile343=) c.738A= (p.Ile246=) c.77-3641A= (n.77-3641A=) | |
| 16 | g.51141194A= | CA2222021603 | SALL1 | c.1028T= (p.Ile343=) c.737T= (p.Ile246=) c.77-3642T= (n.77-3642T=) | |
| 16 | g.51141194A>C | CA395889914 | SALL1 | c.1028T>G (p.Ile343Arg) c.737T>G (p.Ile246Arg) c.77-3642T>G (n.77-3642T>G) | |
| 16 | g.51141194A>G | CA395889912 | SALL1 | c.1028T>C (p.Ile343Thr) c.737T>C (p.Ile246Thr) c.77-3642T>C (n.77-3642T>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141194A>T | CA395889906 | SALL1 | c.1028T>A (p.Ile343Lys) c.737T>A (p.Ile246Lys) c.77-3642T>A (n.77-3642T>A) | |
| 16 | g.51141194dup | CA2499223546 | SALL1 | c.1028dup (p.Leu344IlefsTer11) c.737dup (p.Leu247IlefsTer11) c.77-3642dup (n.77-3642dup) | ClinVar dbSNP |
| 16 | g.51141195T>A | CA395889917 | SALL1 | c.1027A>T (p.Ile343Leu) c.736A>T (p.Ile246Leu) c.77-3643A>T (n.77-3643A>T) | |
| 16 | g.51141195T>C | CA8053353 | SALL1 | c.1027A>G (p.Ile343Val) c.736A>G (p.Ile246Val) c.77-3643A>G (n.77-3643A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141195T>G | CA395889921 | SALL1 | c.1027A>C (p.Ile343Leu) c.736A>C (p.Ile246Leu) c.77-3643A>C (n.77-3643A>C) | |
| 16 | g.51141195T= | CA2222021610 | SALL1 | c.1027A= (p.Ile343=) c.736A= (p.Ile246=) c.77-3643A= (n.77-3643A=) | |
| 16 | g.51141195dup | CA2499223547 | SALL1 | c.1027dup (p.Ile343AsnfsTer12) c.736dup (p.Ile246AsnfsTer12) c.77-3643dup (n.77-3643dup) | ClinVar dbSNP |
| 16 | g.51141196G>A | CA495781207 | SALL1 | c.1026C>T (p.Asn342=) c.735C>T (p.Asn245=) c.77-3644C>T (n.77-3644C>T) | gnomAD v4 |
| 16 | g.51141196G>C | CA395889926 | SALL1 | c.1026C>G (p.Asn342Lys) c.735C>G (p.Asn245Lys) c.77-3644C>G (n.77-3644C>G) | |
| 16 | g.51141196G>T | CA395889927 | SALL1 | c.1026C>A (p.Asn342Lys) c.735C>A (p.Asn245Lys) c.77-3644C>A (n.77-3644C>A) | |
| 16 | g.51141197T>A | CA395889934 | SALL1 | c.1025A>T (p.Asn342Ile) c.734A>T (p.Asn245Ile) c.77-3645A>T (n.77-3645A>T) | |
| 16 | g.51141197T>C | CA395889935 | SALL1 | c.1025A>G (p.Asn342Ser) c.734A>G (p.Asn245Ser) c.77-3645A>G (n.77-3645A>G) | |
| 16 | g.51141197T>G | CA10603945 | SALL1 | c.1025A>C (p.Asn342Thr) c.734A>C (p.Asn245Thr) c.77-3645A>C (n.77-3645A>C) | ClinVar dbSNP |
| 16 | g.51141197T= | CA2222021618 | SALL1 | c.1025A= (p.Asn342=) c.734A= (p.Asn245=) c.77-3645A= (n.77-3645A=) | |
| 16 | g.51141198T>A | CA395889937 | SALL1 | c.1024A>T (p.Asn342Tyr) c.733A>T (p.Asn245Tyr) c.77-3646A>T (n.77-3646A>T) | |
| 16 | g.51141198T>C | CA395889938 | SALL1 | c.1024A>G (p.Asn342Asp) c.733A>G (p.Asn245Asp) c.77-3646A>G (n.77-3646A>G) | |
| 16 | g.51141198T>G | CA395889940 | SALL1 | c.1024A>C (p.Asn342His) c.733A>C (p.Asn245His) c.77-3646A>C (n.77-3646A>C) | |
| 16 | g.51141199C>A | CA395889947 | SALL1 | c.1023G>T (p.Met341Ile) c.732G>T (p.Met244Ile) c.77-3647G>T (n.77-3647G>T) | COSMIC |
| 16 | g.51141199C>G | CA395889946 | SALL1 | c.1023G>C (p.Met341Ile) c.732G>C (p.Met244Ile) c.77-3647G>C (n.77-3647G>C) | |
| 16 | g.51141199C>T | CA395889944 | SALL1 | c.1023G>A (p.Met341Ile) c.732G>A (p.Met244Ile) c.77-3647G>A (n.77-3647G>A) | COSMIC |
| 16 | g.51141200A= | CA2222021626 | SALL1 | c.1022T= (p.Met341=) c.731T= (p.Met244=) c.77-3648T= (n.77-3648T=) | |
| 16 | g.51141200A>C | CA395889948 | SALL1 | c.1022T>G (p.Met341Arg) c.731T>G (p.Met244Arg) c.77-3648T>G (n.77-3648T>G) | |
| 16 | g.51141200A>G | CA395889949 | SALL1 | c.1022T>C (p.Met341Thr) c.731T>C (p.Met244Thr) c.77-3648T>C (n.77-3648T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141200A>T | CA395889950 | SALL1 | c.1022T>A (p.Met341Lys) c.731T>A (p.Met244Lys) c.77-3648T>A (n.77-3648T>A) | |
| 16 | g.51141201T>A | CA395889951 | SALL1 | c.1021A>T (p.Met341Leu) c.730A>T (p.Met244Leu) c.77-3649A>T (n.77-3649A>T) | |
| 16 | g.51141201T>C | CA395889953 | SALL1 | c.1021A>G (p.Met341Val) c.730A>G (p.Met244Val) c.77-3649A>G (n.77-3649A>G) | |
| 16 | g.51141201T>G | CA395889955 | SALL1 | c.1021A>C (p.Met341Leu) c.730A>C (p.Met244Leu) c.77-3649A>C (n.77-3649A>C) | |
| 16 | g.51141202A= | CA2222021633 | SALL1 | c.1020T= (p.Asn340=) c.729T= (p.Asn243=) c.77-3650T= (n.77-3650T=) | |
| 16 | g.51141202A>C | CA395889957 | SALL1 | c.1020T>G (p.Asn340Lys) c.729T>G (p.Asn243Lys) c.77-3650T>G (n.77-3650T>G) | |
| 16 | g.51141202A>G | CA8053354 | SALL1 | c.1020T>C (p.Asn340=) c.729T>C (p.Asn243=) c.77-3650T>C (n.77-3650T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141202A>T | CA395889961 | SALL1 | c.1020T>A (p.Asn340Lys) c.729T>A (p.Asn243Lys) c.77-3650T>A (n.77-3650T>A) | |
| 16 | g.51141203T>A | CA395889965 | SALL1 | c.1019A>T (p.Asn340Ile) c.728A>T (p.Asn243Ile) c.77-3651A>T (n.77-3651A>T) | |
| 16 | g.51141203T>C | CA8053355 | SALL1 | c.1019A>G (p.Asn340Ser) c.728A>G (p.Asn243Ser) c.77-3651A>G (n.77-3651A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141203T>G | CA395889968 | SALL1 | c.1019A>C (p.Asn340Thr) c.728A>C (p.Asn243Thr) c.77-3651A>C (n.77-3651A>C) | |
| 16 | g.51141203T= | CA2222021636 | SALL1 | c.1019A= (p.Asn340=) c.728A= (p.Asn243=) c.77-3651A= (n.77-3651A=) | |
| 16 | g.51141204T>A | CA395889973 | SALL1 | c.1018A>T (p.Asn340Tyr) c.727A>T (p.Asn243Tyr) c.77-3652A>T (n.77-3652A>T) | |
| 16 | g.51141204T>C | CA8053356 | SALL1 | c.1018A>G (p.Asn340Asp) c.727A>G (p.Asn243Asp) c.77-3652A>G (n.77-3652A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141204T>G | CA395889970 | SALL1 | c.1018A>C (p.Asn340His) c.727A>C (p.Asn243His) c.77-3652A>C (n.77-3652A>C) | gnomAD v4 |
| 16 | g.51141204T= | CA2222021647 | SALL1 | c.1018A= (p.Asn340=) c.727A= (p.Asn243=) c.77-3652A= (n.77-3652A=) | |
| 16 | g.51141205G>A | CA495781215 | SALL1 | c.1017C>T (p.Pro339=) c.726C>T (p.Pro242=) c.77-3653C>T (n.77-3653C>T) | gnomAD v4 |
| 16 | g.51141205G>C | CA495781216 | SALL1 | c.1017C>G (p.Pro339=) c.726C>G (p.Pro242=) c.77-3653C>G (n.77-3653C>G) | |
| 16 | g.51141205G>T | CA495781217 | SALL1 | c.1017C>A (p.Pro339=) c.726C>A (p.Pro242=) c.77-3653C>A (n.77-3653C>A) | gnomAD v4 |
| 16 | g.51141206G>A | CA8053357 | SALL1 | c.1016C>T (p.Pro339Leu) c.725C>T (p.Pro242Leu) c.77-3654C>T (n.77-3654C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141206G>C | CA395889976 | SALL1 | c.1016C>G (p.Pro339Arg) c.725C>G (p.Pro242Arg) c.77-3654C>G (n.77-3654C>G) | |
| 16 | g.51141206G= | CA2222021652 | SALL1 | c.1016C= (p.Pro339=) c.725C= (p.Pro242=) c.77-3654C= (n.77-3654C=) | |
| 16 | g.51141206G>T | CA395889979 | SALL1 | c.1016C>A (p.Pro339His) c.725C>A (p.Pro242His) c.77-3654C>A (n.77-3654C>A) | |
| 16 | g.51141207G>A | CA281302777 | SALL1 | c.1015C>T (p.Pro339Ser) c.724C>T (p.Pro242Ser) c.77-3655C>T (n.77-3655C>T) | dbSNP COSMIC |
| 16 | g.51141207G>C | CA395889983 | SALL1 | c.1015C>G (p.Pro339Ala) c.724C>G (p.Pro242Ala) c.77-3655C>G (n.77-3655C>G) | |
| 16 | g.51141207G= | CA2222021653 | SALL1 | c.1015C= (p.Pro339=) c.724C= (p.Pro242=) c.77-3655C= (n.77-3655C=) | |
| 16 | g.51141207G>T | CA8053358 | SALL1 | c.1015C>A (p.Pro339Thr) c.724C>A (p.Pro242Thr) c.77-3655C>A (n.77-3655C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141208A= | CA2222021656 | SALL1 | c.1014T= (p.Ser338=) c.723T= (p.Ser241=) c.77-3656T= (n.77-3656T=) | |
| 16 | g.51141208A>C | CA281302781 | SALL1 | c.1014T>G (p.Ser338=) c.723T>G (p.Ser241=) c.77-3656T>G (n.77-3656T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141208A>G | CA495781221 | SALL1 | c.1014T>C (p.Ser338=) c.723T>C (p.Ser241=) c.77-3656T>C (n.77-3656T>C) | |
| 16 | g.51141208A>T | CA495781222 | SALL1 | c.1014T>A (p.Ser338=) c.723T>A (p.Ser241=) c.77-3656T>A (n.77-3656T>A) | |
| 16 | g.51141209G>A | CA395889987 | SALL1 | c.1013C>T (p.Ser338Phe) c.722C>T (p.Ser241Phe) c.77-3657C>T (n.77-3657C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141209G>C | CA395889989 | SALL1 | c.1013C>G (p.Ser338Cys) c.722C>G (p.Ser241Cys) c.77-3657C>G (n.77-3657C>G) | |
| 16 | g.51141209G= | CA2222021664 | SALL1 | c.1013C= (p.Ser338=) c.722C= (p.Ser241=) c.77-3657C= (n.77-3657C=) | |
| 16 | g.51141209G>T | CA395889991 | SALL1 | c.1013C>A (p.Ser338Tyr) c.722C>A (p.Ser241Tyr) c.77-3657C>A (n.77-3657C>A) | |
| 16 | g.51141210A>C | CA395889994 | SALL1 | c.1012T>G (p.Ser338Ala) c.721T>G (p.Ser241Ala) c.77-3658T>G (n.77-3658T>G) | |
| 16 | g.51141210A>G | CA395889996 | SALL1 | c.1012T>C (p.Ser338Pro) c.721T>C (p.Ser241Pro) c.77-3658T>C (n.77-3658T>C) | |
| 16 | g.51141210A>T | CA395889999 | SALL1 | c.1012T>A (p.Ser338Thr) c.721T>A (p.Ser241Thr) c.77-3658T>A (n.77-3658T>A) | |
| 16 | g.51141211A>C | CA495781223 | SALL1 | c.1011T>G (p.Ser337=) c.720T>G (p.Ser240=) c.77-3659T>G (n.77-3659T>G) | |
| 16 | g.51141211A>G | CA495781224 | SALL1 | c.1011T>C (p.Ser337=) c.720T>C (p.Ser240=) c.77-3659T>C (n.77-3659T>C) | |
| 16 | g.51141211A>T | CA495781226 | SALL1 | c.1011T>A (p.Ser337=) c.720T>A (p.Ser240=) c.77-3659T>A (n.77-3659T>A) | |
| 16 | g.51141212G>A | CA395890007 | SALL1 | c.1010C>T (p.Ser337Phe) c.719C>T (p.Ser240Phe) c.77-3660C>T (n.77-3660C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141212G>C | CA395890004 | SALL1 | c.1010C>G (p.Ser337Cys) c.719C>G (p.Ser240Cys) c.77-3660C>G (n.77-3660C>G) | |
| 16 | g.51141212G= | CA2222021674 | SALL1 | c.1010C= (p.Ser337=) c.719C= (p.Ser240=) c.77-3660C= (n.77-3660C=) | |
| 16 | g.51141212G>T | CA395890002 | SALL1 | c.1010C>A (p.Ser337Tyr) c.719C>A (p.Ser240Tyr) c.77-3660C>A (n.77-3660C>A) | |
| 16 | g.51141213A= | CA2222021677 | SALL1 | c.1009T= (p.Ser337=) c.718T= (p.Ser240=) c.77-3661T= (n.77-3661T=) | |
| 16 | g.51141213A>C | CA395890010 | SALL1 | c.1009T>G (p.Ser337Ala) c.718T>G (p.Ser240Ala) c.77-3661T>G (n.77-3661T>G) | |
| 16 | g.51141213A>G | CA8053359 | SALL1 | c.1009T>C (p.Ser337Pro) c.718T>C (p.Ser240Pro) c.77-3661T>C (n.77-3661T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141213A>T | CA395890012 | SALL1 | c.1009T>A (p.Ser337Thr) c.718T>A (p.Ser240Thr) c.77-3661T>A (n.77-3661T>A) | |
| 16 | g.51141214G>A | CA495781227 | SALL1 | c.1008C>T (p.Gly336=) c.717C>T (p.Gly239=) c.77-3662C>T (n.77-3662C>T) | dbSNP |
| 16 | g.51141214G>C | CA495781228 | SALL1 | c.1008C>G (p.Gly336=) c.717C>G (p.Gly239=) c.77-3662C>G (n.77-3662C>G) | |
| 16 | g.51141214G= | CA2222021680 | SALL1 | c.1008C= (p.Gly336=) c.717C= (p.Gly239=) c.77-3662C= (n.77-3662C=) | |
| 16 | g.51141214G>T | CA495781229 | SALL1 | c.1008C>A (p.Gly336=) c.717C>A (p.Gly239=) c.77-3662C>A (n.77-3662C>A) | |
| 16 | g.51141215C>A | CA395890022 | SALL1 | c.1007G>T (p.Gly336Val) c.716G>T (p.Gly239Val) c.77-3663G>T (n.77-3663G>T) | |
| 16 | g.51141215C= | CA2222021682 | SALL1 | c.1007G= (p.Gly336=) c.716G= (p.Gly239=) c.77-3663G= (n.77-3663G=) | |
| 16 | g.51141215C>G | CA395890024 | SALL1 | c.1007G>C (p.Gly336Ala) c.716G>C (p.Gly239Ala) c.77-3663G>C (n.77-3663G>C) | ClinVar dbSNP |
| 16 | g.51141215C>T | CA8053360 | SALL1 | c.1007G>A (p.Gly336Asp) c.716G>A (p.Gly239Asp) c.77-3663G>A (n.77-3663G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141216C>A | CA395890027 | SALL1 | c.1006G>T (p.Gly336Cys) c.715G>T (p.Gly239Cys) c.77-3664G>T (n.77-3664G>T) | |
| 16 | g.51141216C= | CA2222021687 | SALL1 | c.1006G= (p.Gly336=) c.715G= (p.Gly239=) c.77-3664G= (n.77-3664G=) | |
| 16 | g.51141216C>G | CA395890029 | SALL1 | c.1006G>C (p.Gly336Arg) c.715G>C (p.Gly239Arg) c.77-3664G>C (n.77-3664G>C) | gnomAD v4 |
| 16 | g.51141216C>T | CA8053361 | SALL1 | c.1006G>A (p.Gly336Ser) c.715G>A (p.Gly239Ser) c.77-3664G>A (n.77-3664G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141217G>A | CA281302791 | SALL1 | c.1005C>T (p.Ser335=) c.714C>T (p.Ser238=) c.77-3665C>T (n.77-3665C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141217G>C | CA395890031 | SALL1 | c.1005C>G (p.Ser335Arg) c.714C>G (p.Ser238Arg) c.77-3665C>G (n.77-3665C>G) | |
| 16 | g.51141217G= | CA2222021693 | SALL1 | c.1005C= (p.Ser335=) c.714C= (p.Ser238=) c.77-3665C= (n.77-3665C=) | |
| 16 | g.51141217G>T | CA395890032 | SALL1 | c.1005C>A (p.Ser335Arg) c.714C>A (p.Ser238Arg) c.77-3665C>A (n.77-3665C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141218C>A | CA395890035 | SALL1 | c.1004G>T (p.Ser335Ile) c.713G>T (p.Ser238Ile) c.77-3666G>T (n.77-3666G>T) | |
| 16 | g.51141218C>G | CA395890037 | SALL1 | c.1004G>C (p.Ser335Thr) c.713G>C (p.Ser238Thr) c.77-3666G>C (n.77-3666G>C) | |
| 16 | g.51141218C>T | CA395890040 | SALL1 | c.1004G>A (p.Ser335Asn) c.713G>A (p.Ser238Asn) c.77-3666G>A (n.77-3666G>A) | dbSNP gnomAD v4 |
| 16 | g.51141219T>A | CA395890045 | SALL1 | c.1003A>T (p.Ser335Cys) c.712A>T (p.Ser238Cys) c.77-3667A>T (n.77-3667A>T) | |
| 16 | g.51141219T>C | CA8053362 | SALL1 | c.1003A>G (p.Ser335Gly) c.712A>G (p.Ser238Gly) c.77-3667A>G (n.77-3667A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141219T>G | CA395890041 | SALL1 | c.1003A>C (p.Ser335Arg) c.712A>C (p.Ser238Arg) c.77-3667A>C (n.77-3667A>C) | |
| 16 | g.51141219T= | CA2222021699 | SALL1 | c.1003A= (p.Ser335=) c.712A= (p.Ser238=) c.77-3667A= (n.77-3667A=) | |
| 16 | g.51141220G>A | CA495781235 | SALL1 | c.1002C>T (p.Asn334=) c.711C>T (p.Asn237=) c.77-3668C>T (n.77-3668C>T) | gnomAD v4 |
| 16 | g.51141220G>C | CA395890047 | SALL1 | c.1002C>G (p.Asn334Lys) c.711C>G (p.Asn237Lys) c.77-3668C>G (n.77-3668C>G) | |
| 16 | g.51141220G>T | CA395890050 | SALL1 | c.1002C>A (p.Asn334Lys) c.711C>A (p.Asn237Lys) c.77-3668C>A (n.77-3668C>A) | |
| 16 | g.51141221T>A | CA395890054 | SALL1 | c.1001A>T (p.Asn334Ile) c.710A>T (p.Asn237Ile) c.77-3669A>T (n.77-3669A>T) | |
| 16 | g.51141221T>C | CA395890055 | SALL1 | c.1001A>G (p.Asn334Ser) c.710A>G (p.Asn237Ser) c.77-3669A>G (n.77-3669A>G) | gnomAD v4 |
| 16 | g.51141221T>G | CA395890061 | SALL1 | c.1001A>C (p.Asn334Thr) c.710A>C (p.Asn237Thr) c.77-3669A>C (n.77-3669A>C) | |
| 16 | g.51141222T>A | CA395890063 | SALL1 | c.1000A>T (p.Asn334Tyr) c.709A>T (p.Asn237Tyr) c.77-3670A>T (n.77-3670A>T) | |
| 16 | g.51141222T>C | CA281302794 | SALL1 | c.1000A>G (p.Asn334Asp) c.709A>G (p.Asn237Asp) c.77-3670A>G (n.77-3670A>G) | dbSNP |
| 16 | g.51141222T>G | CA395890070 | SALL1 | c.1000A>C (p.Asn334His) c.709A>C (p.Asn237His) c.77-3670A>C (n.77-3670A>C) | |
| 16 | g.51141222T= | CA2222021704 | SALL1 | c.1000A= (p.Asn334=) c.709A= (p.Asn237=) c.77-3670A= (n.77-3670A=) | |
| 16 | g.51141223G>A | CA8053363 | SALL1 | c.999C>T (p.Ser333=) c.708C>T (p.Ser236=) c.77-3671C>T (n.77-3671C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141223G>C | CA495781237 | SALL1 | c.999C>G (p.Ser333=) c.708C>G (p.Ser236=) c.77-3671C>G (n.77-3671C>G) | |
| 16 | g.51141223G= | CA2222021707 | SALL1 | c.999C= (p.Ser333=) c.708C= (p.Ser236=) c.77-3671C= (n.77-3671C=) | |
| 16 | g.51141223G>T | CA495781236 | SALL1 | c.999C>A (p.Ser333=) c.708C>A (p.Ser236=) c.77-3671C>A (n.77-3671C>A) | |
| 16 | g.51141224G>A | CA395890071 | SALL1 | c.998C>T (p.Ser333Phe) c.707C>T (p.Ser236Phe) c.77-3672C>T (n.77-3672C>T) | |
| 16 | g.51141224G>C | CA395890072 | SALL1 | c.998C>G (p.Ser333Cys) c.707C>G (p.Ser236Cys) c.77-3672C>G (n.77-3672C>G) | COSMIC |
| 16 | g.51141224G>T | CA395890073 | SALL1 | c.998C>A (p.Ser333Tyr) c.707C>A (p.Ser236Tyr) c.77-3672C>A (n.77-3672C>A) | |
| 16 | g.51141225A>C | CA395890078 | SALL1 | c.997T>G (p.Ser333Ala) c.706T>G (p.Ser236Ala) c.77-3673T>G (n.77-3673T>G) | |
| 16 | g.51141225A>G | CA395890077 | SALL1 | c.997T>C (p.Ser333Pro) c.706T>C (p.Ser236Pro) c.77-3673T>C (n.77-3673T>C) | |
| 16 | g.51141225A>T | CA395890075 | SALL1 | c.997T>A (p.Ser333Thr) c.706T>A (p.Ser236Thr) c.77-3673T>A (n.77-3673T>A) | |
| 16 | g.51141226T>A | CA495781239 | SALL1 | c.996A>T (p.Pro332=) c.705A>T (p.Pro235=) c.77-3674A>T (n.77-3674A>T) | |
| 16 | g.51141226T>C | CA495781240 | SALL1 | c.996A>G (p.Pro332=) c.705A>G (p.Pro235=) c.77-3674A>G (n.77-3674A>G) | dbSNP COSMIC |
| 16 | g.51141226T>G | CA495781241 | SALL1 | c.996A>C (p.Pro332=) c.705A>C (p.Pro235=) c.77-3674A>C (n.77-3674A>C) | |
| 16 | g.51141226T= | CA2222021711 | SALL1 | c.996A= (p.Pro332=) c.705A= (p.Pro235=) c.77-3674A= (n.77-3674A=) | |
| 16 | g.51141226_51141227delinsTG | CA2222021714 | SALL1 | c.995_996delinsCA (p.Pro332=) c.704_705delinsCA (p.Pro235=) c.77-3675_77-3674delinsCA (n.77-3675_77-3674delinsCA) | |
| 16 | g.51141227G>A | CA395890080 | SALL1 | c.995C>T (p.Pro332Leu) c.704C>T (p.Pro235Leu) c.77-3675C>T (n.77-3675C>T) | |
| 16 | g.51141227G>C | CA395890085 | SALL1 | c.995C>G (p.Pro332Arg) c.704C>G (p.Pro235Arg) c.77-3675C>G (n.77-3675C>G) | |
| 16 | g.51141227G>T | CA395890087 | SALL1 | c.995C>A (p.Pro332Gln) c.704C>A (p.Pro235Gln) c.77-3675C>A (n.77-3675C>A) | |
| 16 | g.51141228del | CA913184996 | SALL1 | c.995del (p.Pro332HisfsTer10) c.704del (p.Pro235HisfsTer10) c.77-3675del (n.77-3675del) | ClinVar dbSNP |
| 16 | g.51141228G>A | CA395890091 | SALL1 | c.994C>T (p.Pro332Ser) c.703C>T (p.Pro235Ser) c.77-3676C>T (n.77-3676C>T) | |
| 16 | g.51141228G>C | CA395890092 | SALL1 | c.994C>G (p.Pro332Ala) c.703C>G (p.Pro235Ala) c.77-3676C>G (n.77-3676C>G) | dbSNP |
| 16 | g.51141228G= | CA2222021718 | SALL1 | c.994C= (p.Pro332=) c.703C= (p.Pro235=) c.77-3676C= (n.77-3676C=) | |
| 16 | g.51141228G>T | CA395890094 | SALL1 | c.994C>A (p.Pro332Thr) c.703C>A (p.Pro235Thr) c.77-3676C>A (n.77-3676C>A) | |
| 16 | g.51141229A>C | CA395890097 | SALL1 | c.993T>G (p.Ile331Met) c.702T>G (p.Ile234Met) c.77-3677T>G (n.77-3677T>G) | |
| 16 | g.51141229A>G | CA495781242 | SALL1 | c.993T>C (p.Ile331=) c.702T>C (p.Ile234=) c.77-3677T>C (n.77-3677T>C) | |
| 16 | g.51141229A>T | CA495781243 | SALL1 | c.993T>A (p.Ile331=) c.702T>A (p.Ile234=) c.77-3677T>A (n.77-3677T>A) | |
| 16 | g.51141230A>C | CA395890105 | SALL1 | c.992T>G (p.Ile331Ser) c.701T>G (p.Ile234Ser) c.77-3678T>G (n.77-3678T>G) | |
| 16 | g.51141230A>G | CA395890114 | SALL1 | c.992T>C (p.Ile331Thr) c.701T>C (p.Ile234Thr) c.77-3678T>C (n.77-3678T>C) | |
| 16 | g.51141230A>T | CA395890110 | SALL1 | c.992T>A (p.Ile331Asn) c.701T>A (p.Ile234Asn) c.77-3678T>A (n.77-3678T>A) | |
| 16 | g.51141231T>A | CA8053364 | SALL1 | c.991A>T (p.Ile331Phe) c.700A>T (p.Ile234Phe) c.77-3679A>T (n.77-3679A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141231T>C | CA395890119 | SALL1 | c.991A>G (p.Ile331Val) c.700A>G (p.Ile234Val) c.77-3679A>G (n.77-3679A>G) | gnomAD v4 |
| 16 | g.51141231T>G | CA395890122 | SALL1 | c.991A>C (p.Ile331Leu) c.700A>C (p.Ile234Leu) c.77-3679A>C (n.77-3679A>C) | |
| 16 | g.51141231T= | CA2222021725 | SALL1 | c.991A= (p.Ile331=) c.700A= (p.Ile234=) c.77-3679A= (n.77-3679A=) | |
| 16 | g.51141231_51141232insTA | CA2551083209 | SALL1 | c.990_991insTA (p.Ile331Ter) c.699_700insTA (p.Ile234Ter) c.77-3680_77-3679insTA (n.77-3680_77-3679insTA) | |
| 16 | g.51141232G>A | CA495781247 | SALL1 | c.990C>T (p.Ile330=) c.699C>T (p.Ile233=) c.77-3680C>T (n.77-3680C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141232G>C | CA395890124 | SALL1 | c.990C>G (p.Ile330Met) c.699C>G (p.Ile233Met) c.77-3680C>G (n.77-3680C>G) | |
| 16 | g.51141232G= | CA2222021730 | SALL1 | c.990C= (p.Ile330=) c.699C= (p.Ile233=) c.77-3680C= (n.77-3680C=) | |
| 16 | g.51141232G>T | CA495781248 | SALL1 | c.990C>A (p.Ile330=) c.699C>A (p.Ile233=) c.77-3680C>A (n.77-3680C>A) | |
| 16 | g.51141233A>C | CA395890125 | SALL1 | c.989T>G (p.Ile330Ser) c.698T>G (p.Ile233Ser) c.77-3681T>G (n.77-3681T>G) | |
| 16 | g.51141233A>G | CA395890130 | SALL1 | c.989T>C (p.Ile330Thr) c.698T>C (p.Ile233Thr) c.77-3681T>C (n.77-3681T>C) | gnomAD v4 |
| 16 | g.51141233A>T | CA395890127 | SALL1 | c.989T>A (p.Ile330Asn) c.698T>A (p.Ile233Asn) c.77-3681T>A (n.77-3681T>A) | gnomAD v4 |
| 16 | g.51141234T>A | CA395890131 | SALL1 | c.988A>T (p.Ile330Phe) c.697A>T (p.Ile233Phe) c.77-3682A>T (n.77-3682A>T) | |
| 16 | g.51141234T>C | CA395890133 | SALL1 | c.988A>G (p.Ile330Val) c.697A>G (p.Ile233Val) c.77-3682A>G (n.77-3682A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141234T>G | CA395890136 | SALL1 | c.988A>C (p.Ile330Leu) c.697A>C (p.Ile233Leu) c.77-3682A>C (n.77-3682A>C) | |
| 16 | g.51141234T= | CA2222021732 | SALL1 | c.988A= (p.Ile330=) c.697A= (p.Ile233=) c.77-3682A= (n.77-3682A=) | |
| 16 | g.51141234_51141235del | CA2507325572 | SALL1 | c.987_988del (p.Ile330HisfsTer24) c.696_697del (p.Ile233HisfsTer24) c.77-3683_77-3682del (n.77-3683_77-3682del) | |
| 16 | g.51141235G>A | CA495781252 | SALL1 | c.987C>T (p.Thr329=) c.696C>T (p.Thr232=) c.77-3683C>T (n.77-3683C>T) | dbSNP |
| 16 | g.51141235G>C | CA495781253 | SALL1 | c.987C>G (p.Thr329=) c.696C>G (p.Thr232=) c.77-3683C>G (n.77-3683C>G) | |
| 16 | g.51141235G= | CA2222021734 | SALL1 | c.987C= (p.Thr329=) c.696C= (p.Thr232=) c.77-3683C= (n.77-3683C=) | |
| 16 | g.51141235G>T | CA495781254 | SALL1 | c.987C>A (p.Thr329=) c.696C>A (p.Thr232=) c.77-3683C>A (n.77-3683C>A) | |
| 16 | g.51141236G>A | CA10605101 | SALL1 | c.986C>T (p.Thr329Ile) c.695C>T (p.Thr232Ile) c.77-3684C>T (n.77-3684C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141236G>C | CA395890138 | SALL1 | c.986C>G (p.Thr329Ser) c.695C>G (p.Thr232Ser) c.77-3684C>G (n.77-3684C>G) | |
| 16 | g.51141236G= | CA2222021740 | SALL1 | c.986C= (p.Thr329=) c.695C= (p.Thr232=) c.77-3684C= (n.77-3684C=) | |
| 16 | g.51141236G>T | CA395890140 | SALL1 | c.986C>A (p.Thr329Asn) c.695C>A (p.Thr232Asn) c.77-3684C>A (n.77-3684C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141237T>A | CA395890142 | SALL1 | c.985A>T (p.Thr329Ser) c.694A>T (p.Thr232Ser) c.77-3685A>T (n.77-3685A>T) | |
| 16 | g.51141237T>C | CA395890146 | SALL1 | c.985A>G (p.Thr329Ala) c.694A>G (p.Thr232Ala) c.77-3685A>G (n.77-3685A>G) | |
| 16 | g.51141237T>G | CA395890147 | SALL1 | c.985A>C (p.Thr329Pro) c.694A>C (p.Thr232Pro) c.77-3685A>C (n.77-3685A>C) | |
| 16 | g.51141238G>A | CA495781258 | SALL1 | c.984C>T (p.Asn328=) c.693C>T (p.Asn231=) c.77-3686C>T (n.77-3686C>T) | |
| 16 | g.51141238G>C | CA395890150 | SALL1 | c.984C>G (p.Asn328Lys) c.693C>G (p.Asn231Lys) c.77-3686C>G (n.77-3686C>G) | |
| 16 | g.51141238G>T | CA395890153 | SALL1 | c.984C>A (p.Asn328Lys) c.693C>A (p.Asn231Lys) c.77-3686C>A (n.77-3686C>A) | |
| 16 | g.51141239T>A | CA395890158 | SALL1 | c.983A>T (p.Asn328Ile) c.692A>T (p.Asn231Ile) c.77-3687A>T (n.77-3687A>T) | |
| 16 | g.51141239T>C | CA395890159 | SALL1 | c.983A>G (p.Asn328Ser) c.692A>G (p.Asn231Ser) c.77-3687A>G (n.77-3687A>G) | ClinVar |
| 16 | g.51141239T>G | CA395890157 | SALL1 | c.983A>C (p.Asn328Thr) c.692A>C (p.Asn231Thr) c.77-3687A>C (n.77-3687A>C) | |
| 16 | g.51141240T>A | CA395890162 | SALL1 | c.982A>T (p.Asn328Tyr) c.691A>T (p.Asn231Tyr) c.77-3688A>T (n.77-3688A>T) | |
| 16 | g.51141240T>C | CA395890161 | SALL1 | c.982A>G (p.Asn328Asp) c.691A>G (p.Asn231Asp) c.77-3688A>G (n.77-3688A>G) | |
| 16 | g.51141240T>G | CA395890164 | SALL1 | c.982A>C (p.Asn328His) c.691A>C (p.Asn231His) c.77-3688A>C (n.77-3688A>C) | |
| 16 | g.51141241G>A | CA495781259 | SALL1 | c.981C>T (p.Gly327=) c.690C>T (p.Gly230=) c.77-3689C>T (n.77-3689C>T) | |
| 16 | g.51141241G>C | CA495781261 | SALL1 | c.981C>G (p.Gly327=) c.690C>G (p.Gly230=) c.77-3689C>G (n.77-3689C>G) | |
| 16 | g.51141241G= | CA2222021746 | SALL1 | c.981C= (p.Gly327=) c.690C= (p.Gly230=) c.77-3689C= (n.77-3689C=) | |
| 16 | g.51141241G>T | CA495781262 | SALL1 | c.981C>A (p.Gly327=) c.690C>A (p.Gly230=) c.77-3689C>A (n.77-3689C>A) | dbSNP |
| 16 | g.51141242_51141245dup | CA2695223398 | SALL1 | c.978_981dup (p.Asn328TrpfsTer28) c.687_690dup (p.Asn231TrpfsTer28) c.77-3692_77-3689dup (n.77-3692_77-3689dup) | |
| 16 | g.51141242C>A | CA395890166 | SALL1 | c.980G>T (p.Gly327Val) c.689G>T (p.Gly230Val) c.77-3690G>T (n.77-3690G>T) | |
| 16 | g.51141242C>G | CA395890167 | SALL1 | c.980G>C (p.Gly327Ala) c.689G>C (p.Gly230Ala) c.77-3690G>C (n.77-3690G>C) | |
| 16 | g.51141242C>T | CA395890168 | SALL1 | c.980G>A (p.Gly327Asp) c.689G>A (p.Gly230Asp) c.77-3690G>A (n.77-3690G>A) | gnomAD v4 |
| 16 | g.51141243C>A | CA395890169 | SALL1 | c.979G>T (p.Gly327Cys) c.688G>T (p.Gly230Cys) c.77-3691G>T (n.77-3691G>T) | |
| 16 | g.51141243C>G | CA395890170 | SALL1 | c.979G>C (p.Gly327Arg) c.688G>C (p.Gly230Arg) c.77-3691G>C (n.77-3691G>C) | |
| 16 | g.51141243C>T | CA395890172 | SALL1 | c.979G>A (p.Gly327Ser) c.688G>A (p.Gly230Ser) c.77-3691G>A (n.77-3691G>A) | |
| 16 | g.51141244A>C | CA495781266 | SALL1 | c.978T>G (p.Ser326=) c.687T>G (p.Ser229=) c.77-3692T>G (n.77-3692T>G) | |
| 16 | g.51141244A>G | CA495781263 | SALL1 | c.978T>C (p.Ser326=) c.687T>C (p.Ser229=) c.77-3692T>C (n.77-3692T>C) | |
| 16 | g.51141244A>T | CA495781265 | SALL1 | c.978T>A (p.Ser326=) c.687T>A (p.Ser229=) c.77-3692T>A (n.77-3692T>A) | |
| 16 | g.51141245G>A | CA395890180 | SALL1 | c.977C>T (p.Ser326Phe) c.686C>T (p.Ser229Phe) c.77-3693C>T (n.77-3693C>T) | |
| 16 | g.51141245G>C | CA395890174 | SALL1 | c.977C>G (p.Ser326Cys) c.686C>G (p.Ser229Cys) c.77-3693C>G (n.77-3693C>G) | |
| 16 | g.51141245G>T | CA395890176 | SALL1 | c.977C>A (p.Ser326Tyr) c.686C>A (p.Ser229Tyr) c.77-3693C>A (n.77-3693C>A) | |
| 16 | g.51141246A= | CA2222021754 | SALL1 | c.976T= (p.Ser326=) c.685T= (p.Ser229=) c.77-3694T= (n.77-3694T=) | |
| 16 | g.51141246A>C | CA8053365 | SALL1 | c.976T>G (p.Ser326Ala) c.685T>G (p.Ser229Ala) c.77-3694T>G (n.77-3694T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141246A>G | CA395890181 | SALL1 | c.976T>C (p.Ser326Pro) c.685T>C (p.Ser229Pro) c.77-3694T>C (n.77-3694T>C) | |
| 16 | g.51141246A>T | CA395890182 | SALL1 | c.976T>A (p.Ser326Thr) c.685T>A (p.Ser229Thr) c.77-3694T>A (n.77-3694T>A) | |
| 16 | g.51141247A>C | CA395890184 | SALL1 | c.975T>G (p.Ser325Arg) c.684T>G (p.Ser228Arg) c.77-3695T>G (n.77-3695T>G) | |
| 16 | g.51141247A>G | CA495781270 | SALL1 | c.975T>C (p.Ser325=) c.684T>C (p.Ser228=) c.77-3695T>C (n.77-3695T>C) | gnomAD v4 |
| 16 | g.51141247A>T | CA395890185 | SALL1 | c.975T>A (p.Ser325Arg) c.684T>A (p.Ser228Arg) c.77-3695T>A (n.77-3695T>A) | |
| 16 | g.51141248C>A | CA395890187 | SALL1 | c.974G>T (p.Ser325Ile) c.683G>T (p.Ser228Ile) c.77-3696G>T (n.77-3696G>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.51141248C= | CA2222021759 | SALL1 | c.974G= (p.Ser325=) c.683G= (p.Ser228=) c.77-3696G= (n.77-3696G=) | |
| 16 | g.51141248C>G | CA395890190 | SALL1 | c.974G>C (p.Ser325Thr) c.683G>C (p.Ser228Thr) c.77-3696G>C (n.77-3696G>C) | |
| 16 | g.51141248C>T | CA395890188 | SALL1 | c.974G>A (p.Ser325Asn) c.683G>A (p.Ser228Asn) c.77-3696G>A (n.77-3696G>A) | |
| 16 | g.51141249T>A | CA395890192 | SALL1 | c.973A>T (p.Ser325Cys) c.682A>T (p.Ser228Cys) c.77-3697A>T (n.77-3697A>T) | |
| 16 | g.51141249T>C | CA395890194 | SALL1 | c.973A>G (p.Ser325Gly) c.682A>G (p.Ser228Gly) c.77-3697A>G (n.77-3697A>G) | |
| 16 | g.51141249T>G | CA395890196 | SALL1 | c.973A>C (p.Ser325Arg) c.682A>C (p.Ser228Arg) c.77-3697A>C (n.77-3697A>C) | |
| 16 | g.51141250G>A | CA495781274 | SALL1 | c.972C>T (p.Ser324=) c.681C>T (p.Ser227=) c.77-3698C>T (n.77-3698C>T) | |
| 16 | g.51141250G>C | CA395890199 | SALL1 | c.972C>G (p.Ser324Arg) c.681C>G (p.Ser227Arg) c.77-3698C>G (n.77-3698C>G) | |
| 16 | g.51141250G= | CA2222021764 | SALL1 | c.972C= (p.Ser324=) c.681C= (p.Ser227=) c.77-3698C= (n.77-3698C=) | |
| 16 | g.51141250G>T | CA8053366 | SALL1 | c.972C>A (p.Ser324Arg) c.681C>A (p.Ser227Arg) c.77-3698C>A (n.77-3698C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141251C>A | CA395890201 | SALL1 | c.971G>T (p.Ser324Ile) c.680G>T (p.Ser227Ile) c.77-3699G>T (n.77-3699G>T) | |
| 16 | g.51141251C>G | CA395890203 | SALL1 | c.971G>C (p.Ser324Thr) c.680G>C (p.Ser227Thr) c.77-3699G>C (n.77-3699G>C) | |
| 16 | g.51141251C>T | CA395890205 | SALL1 | c.971G>A (p.Ser324Asn) c.680G>A (p.Ser227Asn) c.77-3699G>A (n.77-3699G>A) | gnomAD v4 |
| 16 | g.51141252T>A | CA395890206 | SALL1 | c.970A>T (p.Ser324Cys) c.679A>T (p.Ser227Cys) c.77-3700A>T (n.77-3700A>T) | |
| 16 | g.51141252T>C | CA395890208 | SALL1 | c.970A>G (p.Ser324Gly) c.679A>G (p.Ser227Gly) c.77-3700A>G (n.77-3700A>G) | |
| 16 | g.51141252T>G | CA395890209 | SALL1 | c.970A>C (p.Ser324Arg) c.679A>C (p.Ser227Arg) c.77-3700A>C (n.77-3700A>C) | |
| 16 | g.51141253C>A | CA395890213 | SALL1 | c.969G>T (p.Gln323His) c.678G>T (p.Gln226His) c.77-3701G>T (n.77-3701G>T) | |
| 16 | g.51141253C>G | CA395890211 | SALL1 | c.969G>C (p.Gln323His) c.678G>C (p.Gln226His) c.77-3701G>C (n.77-3701G>C) | gnomAD v4 |
| 16 | g.51141253C>T | CA495781279 | SALL1 | c.969G>A (p.Gln323=) c.678G>A (p.Gln226=) c.77-3701G>A (n.77-3701G>A) | |
| 16 | g.51141254T>A | CA395890214 | SALL1 | c.968A>T (p.Gln323Leu) c.677A>T (p.Gln226Leu) c.77-3702A>T (n.77-3702A>T) | |
| 16 | g.51141254T>C | CA395890218 | SALL1 | c.968A>G (p.Gln323Arg) c.677A>G (p.Gln226Arg) c.77-3702A>G (n.77-3702A>G) | gnomAD v4 |
| 16 | g.51141254T>G | CA395890215 | SALL1 | c.968A>C (p.Gln323Pro) c.677A>C (p.Gln226Pro) c.77-3702A>C (n.77-3702A>C) | |
| 16 | g.51141255G>A | CA118793 | SALL1 | c.967C>T (p.Gln323Ter) c.676C>T (p.Gln226Ter) c.77-3703C>T (n.77-3703C>T) | ClinVar dbSNP |
| 16 | g.51141255G>C | CA395890219 | SALL1 | c.967C>G (p.Gln323Glu) c.676C>G (p.Gln226Glu) c.77-3703C>G (n.77-3703C>G) | |
| 16 | g.51141255G= | CA2222021771 | SALL1 | c.967C= (p.Gln323=) c.676C= (p.Gln226=) c.77-3703C= (n.77-3703C=) | |
| 16 | g.51141255G>T | CA395890221 | SALL1 | c.967C>A (p.Gln323Lys) c.676C>A (p.Gln226Lys) c.77-3703C>A (n.77-3703C>A) | |
| 16 | g.51141256A>C | CA495781281 | SALL1 | c.966T>G (p.Pro322=) c.675T>G (p.Pro225=) c.77-3704T>G (n.77-3704T>G) | |
| 16 | g.51141256A>G | CA495781282 | SALL1 | c.966T>C (p.Pro322=) c.675T>C (p.Pro225=) c.77-3704T>C (n.77-3704T>C) | |
| 16 | g.51141256A>T | CA495781283 | SALL1 | c.966T>A (p.Pro322=) c.675T>A (p.Pro225=) c.77-3704T>A (n.77-3704T>A) | |
| 16 | g.51141257G>A | CA395890223 | SALL1 | c.965C>T (p.Pro322Leu) c.674C>T (p.Pro225Leu) c.77-3705C>T (n.77-3705C>T) | |
| 16 | g.51141257G>C | CA395890224 | SALL1 | c.965C>G (p.Pro322Arg) c.674C>G (p.Pro225Arg) c.77-3705C>G (n.77-3705C>G) | |
| 16 | g.51141257G= | CA2222021775 | SALL1 | c.965C= (p.Pro322=) c.674C= (p.Pro225=) c.77-3705C= (n.77-3705C=) | |
| 16 | g.51141257G>T | CA395890226 | SALL1 | c.965C>A (p.Pro322His) c.674C>A (p.Pro225His) c.77-3705C>A (n.77-3705C>A) | dbSNP gnomAD v2 |
| 16 | g.51141258G>A | CA395890227 | SALL1 | c.964C>T (p.Pro322Ser) c.673C>T (p.Pro225Ser) c.77-3706C>T (n.77-3706C>T) | COSMIC |
| 16 | g.51141258G>C | CA395890229 | SALL1 | c.964C>G (p.Pro322Ala) c.673C>G (p.Pro225Ala) c.77-3706C>G (n.77-3706C>G) | |
| 16 | g.51141258G>T | CA395890231 | SALL1 | c.964C>A (p.Pro322Thr) c.673C>A (p.Pro225Thr) c.77-3706C>A (n.77-3706C>A) | |
| 16 | g.51141259T>A | CA495781285 | SALL1 | c.963A>T (p.Leu321=) c.672A>T (p.Leu224=) c.77-3707A>T (n.77-3707A>T) | |
| 16 | g.51141259T>C | CA495781286 | SALL1 | c.963A>G (p.Leu321=) c.672A>G (p.Leu224=) c.77-3707A>G (n.77-3707A>G) | gnomAD v4 |
| 16 | g.51141259T>G | CA495781287 | SALL1 | c.963A>C (p.Leu321=) c.672A>C (p.Leu224=) c.77-3707A>C (n.77-3707A>C) | |
| 16 | g.51141260A>C | CA395890232 | SALL1 | c.962T>G (p.Leu321Arg) c.671T>G (p.Leu224Arg) c.77-3708T>G (n.77-3708T>G) | |
| 16 | g.51141260A>G | CA395890234 | SALL1 | c.962T>C (p.Leu321Pro) c.671T>C (p.Leu224Pro) c.77-3708T>C (n.77-3708T>C) | |
| 16 | g.51141260A>T | CA395890235 | SALL1 | c.962T>A (p.Leu321Gln) c.671T>A (p.Leu224Gln) c.77-3708T>A (n.77-3708T>A) | |
| 16 | g.51141261G>A | CA495781289 | SALL1 | c.961C>T (p.Leu321=) c.670C>T (p.Leu224=) c.77-3709C>T (n.77-3709C>T) | |
| 16 | g.51141261G>C | CA395890237 | SALL1 | c.961C>G (p.Leu321Val) c.670C>G (p.Leu224Val) c.77-3709C>G (n.77-3709C>G) | |
| 16 | g.51141261G>T | CA395890238 | SALL1 | c.961C>A (p.Leu321Ile) c.670C>A (p.Leu224Ile) c.77-3709C>A (n.77-3709C>A) | |
| 16 | g.51141262C>A | CA395890241 | SALL1 | c.960G>T (p.Gln320His) c.669G>T (p.Gln223His) c.77-3710G>T (n.77-3710G>T) | |
| 16 | g.51141262C>G | CA395890242 | SALL1 | c.960G>C (p.Gln320His) c.669G>C (p.Gln223His) c.77-3710G>C (n.77-3710G>C) | |
| 16 | g.51141262C>T | CA495781290 | SALL1 | c.960G>A (p.Gln320=) c.669G>A (p.Gln223=) c.77-3710G>A (n.77-3710G>A) | |
| 16 | g.51141263T>A | CA395890244 | SALL1 | c.959A>T (p.Gln320Leu) c.668A>T (p.Gln223Leu) c.77-3711A>T (n.77-3711A>T) | |
| 16 | g.51141263T>C | CA395890245 | SALL1 | c.959A>G (p.Gln320Arg) c.668A>G (p.Gln223Arg) c.77-3711A>G (n.77-3711A>G) | |
| 16 | g.51141263T>G | CA395890246 | SALL1 | c.959A>C (p.Gln320Pro) c.668A>C (p.Gln223Pro) c.77-3711A>C (n.77-3711A>C) | |
| 16 | g.51141264G>A | CA395890248 | SALL1 | c.958C>T (p.Gln320Ter) c.667C>T (p.Gln223Ter) c.77-3712C>T (n.77-3712C>T) | ClinVar dbSNP |
| 16 | g.51141264G>C | CA395890250 | SALL1 | c.958C>G (p.Gln320Glu) c.667C>G (p.Gln223Glu) c.77-3712C>G (n.77-3712C>G) | |
| 16 | g.51141264G= | CA2222021780 | SALL1 | c.958C= (p.Gln320=) c.667C= (p.Gln223=) c.77-3712C= (n.77-3712C=) | |
| 16 | g.51141264G>T | CA395890251 | SALL1 | c.958C>A (p.Gln320Lys) c.667C>A (p.Gln223Lys) c.77-3712C>A (n.77-3712C>A) | |
| 16 | g.51141265G>A | CA495781292 | SALL1 | c.957C>T (p.Ile319=) c.666C>T (p.Ile222=) c.77-3713C>T (n.77-3713C>T) | COSMIC |
| 16 | g.51141265G>C | CA395890253 | SALL1 | c.957C>G (p.Ile319Met) c.666C>G (p.Ile222Met) c.77-3713C>G (n.77-3713C>G) | |
| 16 | g.51141265G>T | CA495781295 | SALL1 | c.957C>A (p.Ile319=) c.666C>A (p.Ile222=) c.77-3713C>A (n.77-3713C>A) | |
| 16 | g.51141266A>C | CA395890255 | SALL1 | c.956T>G (p.Ile319Ser) c.665T>G (p.Ile222Ser) c.77-3714T>G (n.77-3714T>G) | |
| 16 | g.51141266A>G | CA395890256 | SALL1 | c.956T>C (p.Ile319Thr) c.665T>C (p.Ile222Thr) c.77-3714T>C (n.77-3714T>C) | |
| 16 | g.51141266A>T | CA395890257 | SALL1 | c.956T>A (p.Ile319Asn) c.665T>A (p.Ile222Asn) c.77-3714T>A (n.77-3714T>A) | |
| 16 | g.51141267T>A | CA395890262 | SALL1 | c.955A>T (p.Ile319Phe) c.664A>T (p.Ile222Phe) c.77-3715A>T (n.77-3715A>T) | |
| 16 | g.51141267T>C | CA395890260 | SALL1 | c.955A>G (p.Ile319Val) c.664A>G (p.Ile222Val) c.77-3715A>G (n.77-3715A>G) | gnomAD v4 |
| 16 | g.51141267T>G | CA395890259 | SALL1 | c.955A>C (p.Ile319Leu) c.664A>C (p.Ile222Leu) c.77-3715A>C (n.77-3715A>C) | |
| 16 | g.51141268T>A | CA495781296 | SALL1 | c.954A>T (p.Pro318=) c.663A>T (p.Pro221=) c.77-3716A>T (n.77-3716A>T) | |
| 16 | g.51141268T>C | CA495781297 | SALL1 | c.954A>G (p.Pro318=) c.663A>G (p.Pro221=) c.77-3716A>G (n.77-3716A>G) | |
| 16 | g.51141268T>G | CA495781298 | SALL1 | c.954A>C (p.Pro318=) c.663A>C (p.Pro221=) c.77-3716A>C (n.77-3716A>C) | |
| 16 | g.51141269G>A | CA281302815 | SALL1 | c.953C>T (p.Pro318Leu) c.662C>T (p.Pro221Leu) c.77-3717C>T (n.77-3717C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141269G>C | CA395890266 | SALL1 | c.953C>G (p.Pro318Arg) c.662C>G (p.Pro221Arg) c.77-3717C>G (n.77-3717C>G) | |
| 16 | g.51141269G= | CA2222021784 | SALL1 | c.953C= (p.Pro318=) c.662C= (p.Pro221=) c.77-3717C= (n.77-3717C=) | |
| 16 | g.51141269G>T | CA395890264 | SALL1 | c.953C>A (p.Pro318Gln) c.662C>A (p.Pro221Gln) c.77-3717C>A (n.77-3717C>A) | dbSNP gnomAD v4 COSMIC |
| 16 | g.51141273del | CA2740093329 | SALL1 | c.953del (p.Pro318GlnfsTer24) c.662del (p.Pro221GlnfsTer24) c.77-3717del (n.77-3717del) | ClinVar |
| 16 | g.51141270G>A | CA395890267 | SALL1 | c.952C>T (p.Pro318Ser) c.661C>T (p.Pro221Ser) c.77-3718C>T (n.77-3718C>T) | dbSNP |
| 16 | g.51141270G>C | CA8053367 | SALL1 | c.952C>G (p.Pro318Ala) c.661C>G (p.Pro221Ala) c.77-3718C>G (n.77-3718C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141270G= | CA2222021793 | SALL1 | c.952C= (p.Pro318=) c.661C= (p.Pro221=) c.77-3718C= (n.77-3718C=) | |
| 16 | g.51141270G>T | CA395890269 | SALL1 | c.952C>A (p.Pro318Thr) c.661C>A (p.Pro221Thr) c.77-3718C>A (n.77-3718C>A) | dbSNP gnomAD v4 |
| 16 | g.51141271G>A | CA495781300 | SALL1 | c.951C>T (p.Pro317=) c.660C>T (p.Pro220=) c.77-3719C>T (n.77-3719C>T) | |
| 16 | g.51141271G>C | CA495781302 | SALL1 | c.951C>G (p.Pro317=) c.660C>G (p.Pro220=) c.77-3719C>G (n.77-3719C>G) | |
| 16 | g.51141271G>T | CA495781301 | SALL1 | c.951C>A (p.Pro317=) c.660C>A (p.Pro220=) c.77-3719C>A (n.77-3719C>A) | |
| 16 | g.51141271_51141282del | CA2807012910 | SALL1 | c.940_951del (p.Lys314_Pro317del) c.649_660del (p.Lys217_Pro220del) c.77-3730_77-3719del (n.77-3730_77-3719del) | |
| 16 | g.51141272G>A | CA395890271 | SALL1 | c.950C>T (p.Pro317Leu) c.659C>T (p.Pro220Leu) c.77-3720C>T (n.77-3720C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141272G>C | CA395890272 | SALL1 | c.950C>G (p.Pro317Arg) c.659C>G (p.Pro220Arg) c.77-3720C>G (n.77-3720C>G) | |
| 16 | g.51141272G= | CA2222021802 | SALL1 | c.950C= (p.Pro317=) c.659C= (p.Pro220=) c.77-3720C= (n.77-3720C=) | |
| 16 | g.51141272G>T | CA8053368 | SALL1 | c.950C>A (p.Pro317His) c.659C>A (p.Pro220His) c.77-3720C>A (n.77-3720C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |