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 |
|---|---|---|---|---|---|
| 4 | g.186603671C>A | CA358975884 | FAT1 | c.10855G>T (p.Gly3619Trp) c.10861G>T (p.Gly3621Trp) | dbSNP |
| 4 | g.186603671C= | CA1520094158 | FAT1 | c.10855G= (p.Gly3619=) c.10861G= (p.Gly3621=) | |
| 4 | g.186603671C>G | CA358975887 | FAT1 | c.10855G>C (p.Gly3619Arg) c.10861G>C (p.Gly3621Arg) | dbSNP |
| 4 | g.186603671C>T | CA3165252 | FAT1 | c.10855G>A (p.Gly3619Arg) c.10861G>A (p.Gly3621Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603672A= | CA1520094159 | FAT1 | c.10854T= (p.Asp3618=) c.10860T= (p.Asp3620=) | |
| 4 | g.186603672A>C | CA358975891 | FAT1 | c.10854T>G (p.Asp3618Glu) c.10860T>G (p.Asp3620Glu) | dbSNP |
| 4 | g.186603672A>G | CA3165253 | FAT1 | c.10854T>C (p.Asp3618=) c.10860T>C (p.Asp3620=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603672A>T | CA358975894 | FAT1 | c.10854T>A (p.Asp3618Glu) c.10860T>A (p.Asp3620Glu) | dbSNP |
| 4 | g.186603673T>A | CA358975898 | FAT1 | c.10853A>T (p.Asp3618Val) c.10859A>T (p.Asp3620Val) | dbSNP |
| 4 | g.186603673T>C | CA358975900 | FAT1 | c.10853A>G (p.Asp3618Gly) c.10859A>G (p.Asp3620Gly) | dbSNP |
| 4 | g.186603673T>G | CA358975902 | FAT1 | c.10853A>C (p.Asp3618Ala) c.10859A>C (p.Asp3620Ala) | dbSNP gnomAD v4 |
| 4 | g.186603674C>A | CA358975906 | FAT1 | c.10852G>T (p.Asp3618Tyr) c.10858G>T (p.Asp3620Tyr) | |
| 4 | g.186603674C>G | CA358975911 | FAT1 | c.10852G>C (p.Asp3618His) c.10858G>C (p.Asp3620His) | dbSNP |
| 4 | g.186603674C>T | CA358975909 | FAT1 | c.10852G>A (p.Asp3618Asn) c.10858G>A (p.Asp3620Asn) | dbSNP |
| 4 | g.186603675T>A | CA442887987 | FAT1 | c.10851A>T (p.Thr3617=) c.10857A>T (p.Thr3619=) | dbSNP |
| 4 | g.186603675T>C | CA442887989 | FAT1 | c.10851A>G (p.Thr3617=) c.10857A>G (p.Thr3619=) | gnomAD v4 |
| 4 | g.186603675T>G | CA442887992 | FAT1 | c.10851A>C (p.Thr3617=) c.10857A>C (p.Thr3619=) | dbSNP |
| 4 | g.186603676G>A | CA358975914 | FAT1 | c.10850C>T (p.Thr3617Ile) c.10856C>T (p.Thr3619Ile) | dbSNP |
| 4 | g.186603676G>C | CA358975916 | FAT1 | c.10850C>G (p.Thr3617Arg) c.10856C>G (p.Thr3619Arg) | dbSNP |
| 4 | g.186603676G>T | CA358975919 | FAT1 | c.10850C>A (p.Thr3617Lys) c.10856C>A (p.Thr3619Lys) | |
| 4 | g.186603677T>A | CA358975924 | FAT1 | c.10849A>T (p.Thr3617Ser) c.10855A>T (p.Thr3619Ser) | dbSNP |
| 4 | g.186603677T>C | CA358975926 | FAT1 | c.10849A>G (p.Thr3617Ala) c.10855A>G (p.Thr3619Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.186603677T>G | CA358975929 | FAT1 | c.10849A>C (p.Thr3617Pro) c.10855A>C (p.Thr3619Pro) | dbSNP |
| 4 | g.186603677T= | CA1520094160 | FAT1 | c.10849A= (p.Thr3617=) c.10855A= (p.Thr3619=) | |
| 4 | g.186603678T>A | CA442888009 | FAT1 | c.10848A>T (p.Val3616=) c.10854A>T (p.Val3618=) | |
| 4 | g.186603678T>C | CA442888007 | FAT1 | c.10848A>G (p.Val3616=) c.10854A>G (p.Val3618=) | |
| 4 | g.186603678T>G | CA442888006 | FAT1 | c.10848A>C (p.Val3616=) c.10854A>C (p.Val3618=) | |
| 4 | g.186603678T= | CA1520094161 | FAT1 | c.10848A= (p.Val3616=) c.10854A= (p.Val3618=) | |
| 4 | g.186603679A>C | CA358975934 | FAT1 | c.10847T>G (p.Val3616Gly) c.10853T>G (p.Val3618Gly) | |
| 4 | g.186603679A>G | CA358975936 | FAT1 | c.10847T>C (p.Val3616Ala) c.10853T>C (p.Val3618Ala) | |
| 4 | g.186603679A>T | CA358975939 | FAT1 | c.10847T>A (p.Val3616Glu) c.10853T>A (p.Val3618Glu) | |
| 4 | g.186603679dup | CA3165254 | FAT1 | c.10847dup (p.Thr3617AsnfsTer?) c.10853dup (p.Thr3619AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603680C>A | CA358975944 | FAT1 | c.10846G>T (p.Val3616Leu) c.10852G>T (p.Val3618Leu) | dbSNP |
| 4 | g.186603680C= | CA1520094162 | FAT1 | c.10846G= (p.Val3616=) c.10852G= (p.Val3618=) | |
| 4 | g.186603680C>G | CA112157309 | FAT1 | c.10846G>C (p.Val3616Leu) c.10852G>C (p.Val3618Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603680C>T | CA3165255 | FAT1 | c.10846G>A (p.Val3616Ile) c.10852G>A (p.Val3618Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.186603681G>A | CA3165256 | FAT1 | c.10845C>T (p.Ser3615=) c.10851C>T (p.Ser3617=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603681G>C | CA358975949 | FAT1 | c.10845C>G (p.Ser3615Arg) c.10851C>G (p.Ser3617Arg) | dbSNP |
| 4 | g.186603681G= | CA1520094163 | FAT1 | c.10845C= (p.Ser3615=) c.10851C= (p.Ser3617=) | |
| 4 | g.186603681G>T | CA358975952 | FAT1 | c.10845C>A (p.Ser3615Arg) c.10851C>A (p.Ser3617Arg) | dbSNP |
| 4 | g.186603682C>A | CA358975955 | FAT1 | c.10844G>T (p.Ser3615Ile) c.10850G>T (p.Ser3617Ile) | dbSNP |
| 4 | g.186603682C= | CA1520094164 | FAT1 | c.10844G= (p.Ser3615=) c.10850G= (p.Ser3617=) | |
| 4 | g.186603682C>G | CA358975957 | FAT1 | c.10844G>C (p.Ser3615Thr) c.10850G>C (p.Ser3617Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603682C>T | CA3165257 | FAT1 | c.10844G>A (p.Ser3615Asn) c.10850G>A (p.Ser3617Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603683T>A | CA358975966 | FAT1 | c.10843A>T (p.Ser3615Cys) c.10849A>T (p.Ser3617Cys) | |
| 4 | g.186603683T>C | CA358975960 | FAT1 | c.10843A>G (p.Ser3615Gly) c.10849A>G (p.Ser3617Gly) | |
| 4 | g.186603683T>G | CA358975962 | FAT1 | c.10843A>C (p.Ser3615Arg) c.10849A>C (p.Ser3617Arg) | dbSNP |
| 4 | g.186603684G>A | CA442888043 | FAT1 | c.10842C>T (p.Val3614=) c.10848C>T (p.Val3616=) | dbSNP gnomAD v4 |
| 4 | g.186603684G>C | CA442888047 | FAT1 | c.10842C>G (p.Val3614=) c.10848C>G (p.Val3616=) | dbSNP |
| 4 | g.186603684G= | CA1520094165 | FAT1 | c.10842C= (p.Val3614=) c.10848C= (p.Val3616=) | |
| 4 | g.186603684G>T | CA442888045 | FAT1 | c.10842C>A (p.Val3614=) c.10848C>A (p.Val3616=) | |
| 4 | g.186603685A= | CA1520094166 | FAT1 | c.10841T= (p.Val3614=) c.10847T= (p.Val3616=) | |
| 4 | g.186603685A>C | CA358975969 | FAT1 | c.10841T>G (p.Val3614Gly) c.10847T>G (p.Val3616Gly) | |
| 4 | g.186603685A>G | CA358975971 | FAT1 | c.10841T>C (p.Val3614Ala) c.10847T>C (p.Val3616Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.186603685A>T | CA358975974 | FAT1 | c.10841T>A (p.Val3614Asp) c.10847T>A (p.Val3616Asp) | dbSNP |
| 4 | g.186603686C>A | CA358975976 | FAT1 | c.10840G>T (p.Val3614Phe) c.10846G>T (p.Val3616Phe) | |
| 4 | g.186603686C= | CA1520094167 | FAT1 | c.10840G= (p.Val3614=) c.10846G= (p.Val3616=) | |
| 4 | g.186603686C>G | CA358975978 | FAT1 | c.10840G>C (p.Val3614Leu) c.10846G>C (p.Val3616Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186603686C>T | CA112157315 | FAT1 | c.10840G>A (p.Val3614Ile) c.10846G>A (p.Val3616Ile) | dbSNP gnomAD v4 |
| 4 | g.186603687A= | CA1520094168 | FAT1 | c.10839T= (p.Asn3613=) c.10845T= (p.Asn3615=) | |
| 4 | g.186603687A>C | CA358975983 | FAT1 | c.10839T>G (p.Asn3613Lys) c.10845T>G (p.Asn3615Lys) | dbSNP |
| 4 | g.186603687A>G | CA112157319 | FAT1 | c.10839T>C (p.Asn3613=) c.10845T>C (p.Asn3615=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603687A>T | CA358975985 | FAT1 | c.10839T>A (p.Asn3613Lys) c.10845T>A (p.Asn3615Lys) | dbSNP |
| 4 | g.186603688T>A | CA358975989 | FAT1 | c.10838A>T (p.Asn3613Ile) c.10844A>T (p.Asn3615Ile) | dbSNP |
| 4 | g.186603688T>C | CA358975991 | FAT1 | c.10838A>G (p.Asn3613Ser) c.10844A>G (p.Asn3615Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603688T>G | CA358975993 | FAT1 | c.10838A>C (p.Asn3613Thr) c.10844A>C (p.Asn3615Thr) | dbSNP |
| 4 | g.186603688T= | CA1520094169 | FAT1 | c.10838A= (p.Asn3613=) c.10844A= (p.Asn3615=) | |
| 4 | g.186603689T>A | CA358975995 | FAT1 | c.10837A>T (p.Asn3613Tyr) c.10843A>T (p.Asn3615Tyr) | |
| 4 | g.186603689T>C | CA358975997 | FAT1 | c.10837A>G (p.Asn3613Asp) c.10843A>G (p.Asn3615Asp) | dbSNP |
| 4 | g.186603689T>G | CA358975999 | FAT1 | c.10837A>C (p.Asn3613His) c.10843A>C (p.Asn3615His) | gnomAD v4 |
| 4 | g.186603689T= | CA1520094170 | FAT1 | c.10837A= (p.Asn3613=) c.10843A= (p.Asn3615=) | |
| 4 | g.186603690G>A | CA442888087 | FAT1 | c.10836C>T (p.Leu3612=) c.10842C>T (p.Leu3614=) | gnomAD v4 |
| 4 | g.186603690G>C | CA442888091 | FAT1 | c.10836C>G (p.Leu3612=) c.10842C>G (p.Leu3614=) | |
| 4 | g.186603690G>T | CA442888093 | FAT1 | c.10836C>A (p.Leu3612=) c.10842C>A (p.Leu3614=) | |
| 4 | g.186603691A>C | CA358976000 | FAT1 | c.10835T>G (p.Leu3612Arg) c.10841T>G (p.Leu3614Arg) | |
| 4 | g.186603691A>G | CA358976002 | FAT1 | c.10835T>C (p.Leu3612Pro) c.10841T>C (p.Leu3614Pro) | dbSNP |
| 4 | g.186603691A>T | CA358976004 | FAT1 | c.10835T>A (p.Leu3612His) c.10841T>A (p.Leu3614His) | dbSNP |
| 4 | g.186603692G>A | CA358976006 | FAT1 | c.10834C>T (p.Leu3612Phe) c.10840C>T (p.Leu3614Phe) | |
| 4 | g.186603692G>C | CA358976008 | FAT1 | c.10834C>G (p.Leu3612Val) c.10840C>G (p.Leu3614Val) | dbSNP |
| 4 | g.186603692G= | CA1520094171 | FAT1 | c.10834C= (p.Leu3612=) c.10840C= (p.Leu3614=) | |
| 4 | g.186603692G>T | CA3165258 | FAT1 | c.10834C>A (p.Leu3612Ile) c.10840C>A (p.Leu3614Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603693A>C | CA442888111 | FAT1 | c.10833T>G (p.Leu3611=) c.10839T>G (p.Leu3613=) | |
| 4 | g.186603693A>G | CA442888108 | FAT1 | c.10833T>C (p.Leu3611=) c.10839T>C (p.Leu3613=) | dbSNP |
| 4 | g.186603693A>T | CA442888105 | FAT1 | c.10833T>A (p.Leu3611=) c.10839T>A (p.Leu3613=) | dbSNP |
| 4 | g.186603694A= | CA1520094172 | FAT1 | c.10832T= (p.Leu3611=) c.10838T= (p.Leu3613=) | |
| 4 | g.186603694A>C | CA358976012 | FAT1 | c.10832T>G (p.Leu3611Arg) c.10838T>G (p.Leu3613Arg) | |
| 4 | g.186603694A>G | CA358976017 | FAT1 | c.10832T>C (p.Leu3611Pro) c.10838T>C (p.Leu3613Pro) | dbSNP gnomAD v4 |
| 4 | g.186603694A>T | CA358976014 | FAT1 | c.10832T>A (p.Leu3611His) c.10838T>A (p.Leu3613His) | dbSNP |
| 4 | g.186603695G>A | CA358976020 | FAT1 | c.10831C>T (p.Leu3611Phe) c.10837C>T (p.Leu3613Phe) | dbSNP |
| 4 | g.186603695G>C | CA358976022 | FAT1 | c.10831C>G (p.Leu3611Val) c.10837C>G (p.Leu3613Val) | dbSNP |
| 4 | g.186603695G>T | CA358976024 | FAT1 | c.10831C>A (p.Leu3611Ile) c.10837C>A (p.Leu3613Ile) | dbSNP |
| 4 | g.186603696G>A | CA3165259 | FAT1 | c.10830C>T (p.Tyr3610=) c.10836C>T (p.Tyr3612=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603696G>C | CA358976028 | FAT1 | c.10830C>G (p.Tyr3610Ter) c.10836C>G (p.Tyr3612Ter) | dbSNP |
| 4 | g.186603696G= | CA1520094173 | FAT1 | c.10830C= (p.Tyr3610=) c.10836C= (p.Tyr3612=) | |
| 4 | g.186603696G>T | CA358976030 | FAT1 | c.10830C>A (p.Tyr3610Ter) c.10836C>A (p.Tyr3612Ter) | dbSNP |
| 4 | g.186603697T>A | CA358976032 | FAT1 | c.10829A>T (p.Tyr3610Phe) c.10835A>T (p.Tyr3612Phe) | dbSNP |
| 4 | g.186603697T>C | CA112157325 | FAT1 | c.10829A>G (p.Tyr3610Cys) c.10835A>G (p.Tyr3612Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603697T>G | CA358976035 | FAT1 | c.10829A>C (p.Tyr3610Ser) c.10835A>C (p.Tyr3612Ser) | dbSNP |
| 4 | g.186603697T= | CA1520094174 | FAT1 | c.10829A= (p.Tyr3610=) c.10835A= (p.Tyr3612=) | |
| 4 | g.186603698A>C | CA358976038 | FAT1 | c.10828T>G (p.Tyr3610Asp) c.10834T>G (p.Tyr3612Asp) | dbSNP |
| 4 | g.186603698A>G | CA358976040 | FAT1 | c.10828T>C (p.Tyr3610His) c.10834T>C (p.Tyr3612His) | |
| 4 | g.186603698A>T | CA358976042 | FAT1 | c.10828T>A (p.Tyr3610Asn) c.10834T>A (p.Tyr3612Asn) | dbSNP |
| 4 | g.186603699T>A | CA358976048 | FAT1 | c.10827A>T (p.Gln3609His) c.10833A>T (p.Gln3611His) | dbSNP |
| 4 | g.186603699T>C | CA3165260 | FAT1 | c.10827A>G (p.Gln3609=) c.10833A>G (p.Gln3611=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603699T>G | CA358976045 | FAT1 | c.10827A>C (p.Gln3609His) c.10833A>C (p.Gln3611His) | dbSNP gnomAD v4 |
| 4 | g.186603699T= | CA1520094175 | FAT1 | c.10827A= (p.Gln3609=) c.10833A= (p.Gln3611=) | |
| 4 | g.186603700T>A | CA358976051 | FAT1 | c.10826A>T (p.Gln3609Leu) c.10832A>T (p.Gln3611Leu) | dbSNP |
| 4 | g.186603700T>C | CA358976053 | FAT1 | c.10826A>G (p.Gln3609Arg) c.10832A>G (p.Gln3611Arg) | |
| 4 | g.186603700T>G | CA358976055 | FAT1 | c.10826A>C (p.Gln3609Pro) c.10832A>C (p.Gln3611Pro) | |
| 4 | g.186603701G>A | CA358976058 | FAT1 | c.10825C>T (p.Gln3609Ter) c.10831C>T (p.Gln3611Ter) | dbSNP |
| 4 | g.186603701G>C | CA358976059 | FAT1 | c.10825C>G (p.Gln3609Glu) c.10831C>G (p.Gln3611Glu) | |
| 4 | g.186603701G>T | CA358976061 | FAT1 | c.10825C>A (p.Gln3609Lys) c.10831C>A (p.Gln3611Lys) | dbSNP |
| 4 | g.186603702C>A | CA442888156 | FAT1 | c.10824G>T (p.Gly3608=) c.10830G>T (p.Gly3610=) | dbSNP |
| 4 | g.186603702C= | CA1520094176 | FAT1 | c.10824G= (p.Gly3608=) c.10830G= (p.Gly3610=) | |
| 4 | g.186603702C>G | CA442888159 | FAT1 | c.10824G>C (p.Gly3608=) c.10830G>C (p.Gly3610=) | dbSNP |
| 4 | g.186603702C>T | CA3165261 | FAT1 | c.10824G>A (p.Gly3608=) c.10830G>A (p.Gly3610=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603703C>A | CA358976066 | FAT1 | c.10823G>T (p.Gly3608Val) c.10829G>T (p.Gly3610Val) | dbSNP |
| 4 | g.186603703C= | CA1520094177 | FAT1 | c.10823G= (p.Gly3608=) c.10829G= (p.Gly3610=) | |
| 4 | g.186603703C>G | CA3165262 | FAT1 | c.10823G>C (p.Gly3608Ala) c.10829G>C (p.Gly3610Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603703C>T | CA358976068 | FAT1 | c.10823G>A (p.Gly3608Glu) c.10829G>A (p.Gly3610Glu) | dbSNP |
| 4 | g.186603704C>A | CA358976070 | FAT1 | c.10822G>T (p.Gly3608Trp) c.10828G>T (p.Gly3610Trp) | dbSNP COSMIC COSMIC |
| 4 | g.186603704C= | CA1520094178 | FAT1 | c.10822G= (p.Gly3608=) c.10828G= (p.Gly3610=) | |
| 4 | g.186603704C>G | CA112157329 | FAT1 | c.10822G>C (p.Gly3608Arg) c.10828G>C (p.Gly3610Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603704C>T | CA358976072 | FAT1 | c.10822G>A (p.Gly3608Arg) c.10828G>A (p.Gly3610Arg) | dbSNP |
| 4 | g.186603705T>A | CA442888175 | FAT1 | c.10821A>T (p.Ile3607=) c.10827A>T (p.Ile3609=) | dbSNP |
| 4 | g.186603705T>C | CA3165263 | FAT1 | c.10821A>G (p.Ile3607Met) c.10827A>G (p.Ile3609Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603705T>G | CA442888177 | FAT1 | c.10821A>C (p.Ile3607=) c.10827A>C (p.Ile3609=) | |
| 4 | g.186603705T= | CA1520094179 | FAT1 | c.10821A= (p.Ile3607=) c.10827A= (p.Ile3609=) | |
| 4 | g.186603706A= | CA1520094180 | FAT1 | c.10820T= (p.Ile3607=) c.10826T= (p.Ile3609=) | |
| 4 | g.186603706A>C | CA358976078 | FAT1 | c.10820T>G (p.Ile3607Arg) c.10826T>G (p.Ile3609Arg) | dbSNP |
| 4 | g.186603706A>G | CA358976076 | FAT1 | c.10820T>C (p.Ile3607Thr) c.10826T>C (p.Ile3609Thr) | dbSNP |
| 4 | g.186603706A>T | CA358976080 | FAT1 | c.10820T>A (p.Ile3607Lys) c.10826T>A (p.Ile3609Lys) | dbSNP |
| 4 | g.186603707T>A | CA358976083 | FAT1 | c.10819A>T (p.Ile3607Leu) c.10825A>T (p.Ile3609Leu) | dbSNP |
| 4 | g.186603707T>C | CA358976088 | FAT1 | c.10819A>G (p.Ile3607Val) c.10825A>G (p.Ile3609Val) | dbSNP gnomAD v4 |
| 4 | g.186603707T>G | CA358976085 | FAT1 | c.10819A>C (p.Ile3607Leu) c.10825A>C (p.Ile3609Leu) | dbSNP |
| 4 | g.186603707T= | CA1520094181 | FAT1 | c.10819A= (p.Ile3607=) c.10825A= (p.Ile3609=) | |
| 4 | g.186603708G>A | CA442888187 | FAT1 | c.10818C>T (p.Asp3606=) c.10824C>T (p.Asp3608=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603708G>C | CA358976090 | FAT1 | c.10818C>G (p.Asp3606Glu) c.10824C>G (p.Asp3608Glu) | dbSNP |
| 4 | g.186603708G= | CA1520094182 | FAT1 | c.10818C= (p.Asp3606=) c.10824C= (p.Asp3608=) | |
| 4 | g.186603708G>T | CA358976092 | FAT1 | c.10818C>A (p.Asp3606Glu) c.10824C>A (p.Asp3608Glu) | |
| 4 | g.186603709T>A | CA358976095 | FAT1 | c.10817A>T (p.Asp3606Val) c.10823A>T (p.Asp3608Val) | dbSNP |
| 4 | g.186603709T>C | CA358976098 | FAT1 | c.10817A>G (p.Asp3606Gly) c.10823A>G (p.Asp3608Gly) | dbSNP |
| 4 | g.186603709T>G | CA358976097 | FAT1 | c.10817A>C (p.Asp3606Ala) c.10823A>C (p.Asp3608Ala) | |
| 4 | g.186603710C>A | CA358976100 | FAT1 | c.10816G>T (p.Asp3606Tyr) c.10822G>T (p.Asp3608Tyr) | |
| 4 | g.186603710C= | CA1520094183 | FAT1 | c.10816G= (p.Asp3606=) c.10822G= (p.Asp3608=) | |
| 4 | g.186603710C>G | CA358976104 | FAT1 | c.10816G>C (p.Asp3606His) c.10822G>C (p.Asp3608His) | dbSNP |
| 4 | g.186603710C>T | CA358976102 | FAT1 | c.10816G>A (p.Asp3606Asn) c.10822G>A (p.Asp3608Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603711T>A | CA442888205 | FAT1 | c.10815A>T (p.Leu3605=) c.10821A>T (p.Leu3607=) | dbSNP |
| 4 | g.186603711T>C | CA442888208 | FAT1 | c.10815A>G (p.Leu3605=) c.10821A>G (p.Leu3607=) | dbSNP |
| 4 | g.186603711T>G | CA442888209 | FAT1 | c.10815A>C (p.Leu3605=) c.10821A>C (p.Leu3607=) | |
| 4 | g.186603712A>C | CA358976107 | FAT1 | c.10814T>G (p.Leu3605Arg) c.10820T>G (p.Leu3607Arg) | |
| 4 | g.186603712A>G | CA358976111 | FAT1 | c.10814T>C (p.Leu3605Pro) c.10820T>C (p.Leu3607Pro) | |
| 4 | g.186603712A>T | CA358976109 | FAT1 | c.10814T>A (p.Leu3605Gln) c.10820T>A (p.Leu3607Gln) | dbSNP |
| 4 | g.186603713G>A | CA442888216 | FAT1 | c.10813C>T (p.Leu3605=) c.10819C>T (p.Leu3607=) | dbSNP |
| 4 | g.186603713G>C | CA358976113 | FAT1 | c.10813C>G (p.Leu3605Val) c.10819C>G (p.Leu3607Val) | dbSNP |
| 4 | g.186603713G>T | CA358976115 | FAT1 | c.10813C>A (p.Leu3605Ile) c.10819C>A (p.Leu3607Ile) | dbSNP |
| 4 | g.186603714C>A | CA358976117 | FAT1 | c.10812G>T (p.Lys3604Asn) c.10818G>T (p.Lys3606Asn) | |
| 4 | g.186603714C= | CA1520094184 | FAT1 | c.10812G= (p.Lys3604=) c.10818G= (p.Lys3606=) | |
| 4 | g.186603714C>G | CA358976119 | FAT1 | c.10812G>C (p.Lys3604Asn) c.10818G>C (p.Lys3606Asn) | |
| 4 | g.186603714C>T | CA442888221 | FAT1 | c.10812G>A (p.Lys3604=) c.10818G>A (p.Lys3606=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603715T>A | CA358976122 | FAT1 | c.10811A>T (p.Lys3604Met) c.10817A>T (p.Lys3606Met) | dbSNP |
| 4 | g.186603715T>C | CA358976123 | FAT1 | c.10811A>G (p.Lys3604Arg) c.10817A>G (p.Lys3606Arg) | |
| 4 | g.186603715T>G | CA358976125 | FAT1 | c.10811A>C (p.Lys3604Thr) c.10817A>C (p.Lys3606Thr) | |
| 4 | g.186603716T>A | CA358976128 | FAT1 | c.10810A>T (p.Lys3604Ter) c.10816A>T (p.Lys3606Ter) | dbSNP |
| 4 | g.186603716T>C | CA358976130 | FAT1 | c.10810A>G (p.Lys3604Glu) c.10816A>G (p.Lys3606Glu) | |
| 4 | g.186603716T>G | CA358976132 | FAT1 | c.10810A>C (p.Lys3604Gln) c.10816A>C (p.Lys3606Gln) | dbSNP |
| 4 | g.186603716T= | CA1520094185 | FAT1 | c.10810A= (p.Lys3604=) c.10816A= (p.Lys3606=) | |
| 4 | g.186603716_186603717insATAGTGATACAAAAAAA | CA3165264 | FAT1 | c.10809_10810insTTTTTTTGTATCACTAT (p.Lys3604PhefsTer8) c.10815_10816insTTTTTTTGTATCACTAT (p.Lys3606PhefsTer8) | dbSNP ExAC |
| 4 | g.186603717T>A | CA358976136 | FAT1 | c.10809A>T (p.Lys3603Asn) c.10815A>T (p.Lys3605Asn) | dbSNP |
| 4 | g.186603717T>C | CA442888246 | FAT1 | c.10809A>G (p.Lys3603=) c.10815A>G (p.Lys3605=) | dbSNP |
| 4 | g.186603717T>G | CA358976138 | FAT1 | c.10809A>C (p.Lys3603Asn) c.10815A>C (p.Lys3605Asn) | COSMIC COSMIC |
| 4 | g.186603718T>A | CA358976140 | FAT1 | c.10808A>T (p.Lys3603Ile) c.10814A>T (p.Lys3605Ile) | dbSNP |
| 4 | g.186603718T>C | CA358976144 | FAT1 | c.10808A>G (p.Lys3603Arg) c.10814A>G (p.Lys3605Arg) | gnomAD v4 |
| 4 | g.186603718T>G | CA358976141 | FAT1 | c.10808A>C (p.Lys3603Thr) c.10814A>C (p.Lys3605Thr) | dbSNP |
| 4 | g.186603718T= | CA1520094186 | FAT1 | c.10808A= (p.Lys3603=) c.10814A= (p.Lys3605=) | |
| 4 | g.186603719T>A | CA358976148 | FAT1 | c.10807A>T (p.Lys3603Ter) c.10813A>T (p.Lys3605Ter) | dbSNP |
| 4 | g.186603719T>C | CA358976150 | FAT1 | c.10807A>G (p.Lys3603Glu) c.10813A>G (p.Lys3605Glu) | |
| 4 | g.186603719T>G | CA358976152 | FAT1 | c.10807A>C (p.Lys3603Gln) c.10813A>C (p.Lys3605Gln) | dbSNP |
| 4 | g.186603719T= | CA1520094187 | FAT1 | c.10807A= (p.Lys3603=) c.10813A= (p.Lys3605=) | |
| 4 | g.186603719_186603720insAAAATGTCATTGAT | CA3165265 | FAT1 | c.10807_10808insTCAATGACATTTTA (p.Lys3603IlefsTer8) c.10813_10814insTCAATGACATTTTA (p.Lys3605IlefsTer8) | dbSNP ExAC |
| 4 | g.186603723_186603724del | CA2708140658 | FAT1 | c.10806_10807del (p.His3602GlnfsTer?) c.10812_10813del (p.His3604GlnfsTer?) | dbSNP |
| 4 | g.186603720G>A | CA442888262 | FAT1 | c.10806C>T (p.His3602=) c.10812C>T (p.His3604=) | gnomAD v4 |
| 4 | g.186603720G>C | CA358976154 | FAT1 | c.10806C>G (p.His3602Gln) c.10812C>G (p.His3604Gln) | |
| 4 | g.186603720G>T | CA358976156 | FAT1 | c.10806C>A (p.His3602Gln) c.10812C>A (p.His3604Gln) | |
| 4 | g.186603721T>A | CA358976159 | FAT1 | c.10805A>T (p.His3602Leu) c.10811A>T (p.His3604Leu) | |
| 4 | g.186603721T>C | CA358976160 | FAT1 | c.10805A>G (p.His3602Arg) c.10811A>G (p.His3604Arg) | |
| 4 | g.186603721T>G | CA358976162 | FAT1 | c.10805A>C (p.His3602Pro) c.10811A>C (p.His3604Pro) | |
| 4 | g.186603722G>A | CA358976167 | FAT1 | c.10804C>T (p.His3602Tyr) c.10810C>T (p.His3604Tyr) | dbSNP |
| 4 | g.186603722G>C | CA358976165 | FAT1 | c.10804C>G (p.His3602Asp) c.10810C>G (p.His3604Asp) | dbSNP |
| 4 | g.186603722G= | CA1520094188 | FAT1 | c.10804C= (p.His3602=) c.10810C= (p.His3604=) | |
| 4 | g.186603722G>T | CA3165266 | FAT1 | c.10804C>A (p.His3602Asn) c.10810C>A (p.His3604Asn) | dbSNP ExAC |
| 4 | g.186603723T>A | CA442888275 | FAT1 | c.10803A>T (p.Ala3601=) c.10809A>T (p.Ala3603=) | dbSNP gnomAD v4 |
| 4 | g.186603723T>C | CA442888277 | FAT1 | c.10803A>G (p.Ala3601=) c.10809A>G (p.Ala3603=) | |
| 4 | g.186603723T>G | CA442888278 | FAT1 | c.10803A>C (p.Ala3601=) c.10809A>C (p.Ala3603=) | |
| 4 | g.186603723T= | CA1520094189 | FAT1 | c.10803A= (p.Ala3601=) c.10809A= (p.Ala3603=) | |
| 4 | g.186603724G>A | CA358976170 | FAT1 | c.10802C>T (p.Ala3601Val) c.10808C>T (p.Ala3603Val) | dbSNP gnomAD v4 |
| 4 | g.186603724G>C | CA358976172 | FAT1 | c.10802C>G (p.Ala3601Gly) c.10808C>G (p.Ala3603Gly) | dbSNP |
| 4 | g.186603724G>T | CA358976174 | FAT1 | c.10802C>A (p.Ala3601Glu) c.10808C>A (p.Ala3603Glu) | dbSNP |
| 4 | g.186603725C>A | CA3165267 | FAT1 | c.10801G>T (p.Ala3601Ser) c.10807G>T (p.Ala3603Ser) | dbSNP ExAC |
| 4 | g.186603725C= | CA1520094190 | FAT1 | c.10801G= (p.Ala3601=) c.10807G= (p.Ala3603=) | |
| 4 | g.186603725C>G | CA358976178 | FAT1 | c.10801G>C (p.Ala3601Pro) c.10807G>C (p.Ala3603Pro) | dbSNP |
| 4 | g.186603725C>T | CA112157333 | FAT1 | c.10801G>A (p.Ala3601Thr) c.10807G>A (p.Ala3603Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603726T>A | CA442888290 | FAT1 | c.10800A>T (p.Ile3600=) c.10806A>T (p.Ile3602=) | dbSNP |
| 4 | g.186603726T>C | CA358976181 | FAT1 | c.10800A>G (p.Ile3600Met) c.10806A>G (p.Ile3602Met) | dbSNP gnomAD v4 |
| 4 | g.186603726T>G | CA3165268 | FAT1 | c.10800A>C (p.Ile3600=) c.10806A>C (p.Ile3602=) | dbSNP ExAC |
| 4 | g.186603726T= | CA1520094191 | FAT1 | c.10800A= (p.Ile3600=) c.10806A= (p.Ile3602=) | |
| 4 | g.186603727A>C | CA358976184 | FAT1 | c.10799T>G (p.Ile3600Arg) c.10805T>G (p.Ile3602Arg) | dbSNP |
| 4 | g.186603727A>G | CA358976186 | FAT1 | c.10799T>C (p.Ile3600Thr) c.10805T>C (p.Ile3602Thr) | gnomAD v4 |
| 4 | g.186603727A>T | CA358976188 | FAT1 | c.10799T>A (p.Ile3600Lys) c.10805T>A (p.Ile3602Lys) | dbSNP |
| 4 | g.186603728T>A | CA358976195 | FAT1 | c.10798A>T (p.Ile3600Leu) c.10804A>T (p.Ile3602Leu) | dbSNP |
| 4 | g.186603728T>C | CA358976193 | FAT1 | c.10798A>G (p.Ile3600Val) c.10804A>G (p.Ile3602Val) | dbSNP COSMIC COSMIC |
| 4 | g.186603728T>G | CA358976191 | FAT1 | c.10798A>C (p.Ile3600Leu) c.10804A>C (p.Ile3602Leu) | |
| 4 | g.186603729C>A | CA442888305 | FAT1 | c.10797G>T (p.Leu3599=) c.10803G>T (p.Leu3601=) | dbSNP |
| 4 | g.186603729C>G | CA442888307 | FAT1 | c.10797G>C (p.Leu3599=) c.10803G>C (p.Leu3601=) | dbSNP |
| 4 | g.186603729C>T | CA442888311 | FAT1 | c.10797G>A (p.Leu3599=) c.10803G>A (p.Leu3601=) | dbSNP |
| 4 | g.186603730A>C | CA358976197 | FAT1 | c.10796T>G (p.Leu3599Arg) c.10802T>G (p.Leu3601Arg) | |
| 4 | g.186603730A>G | CA358976198 | FAT1 | c.10796T>C (p.Leu3599Pro) c.10802T>C (p.Leu3601Pro) | dbSNP |
| 4 | g.186603730A>T | CA358976200 | FAT1 | c.10796T>A (p.Leu3599Gln) c.10802T>A (p.Leu3601Gln) | dbSNP |
| 4 | g.186603731G>A | CA442888314 | FAT1 | c.10795C>T (p.Leu3599=) c.10801C>T (p.Leu3601=) | |
| 4 | g.186603731G>C | CA358976202 | FAT1 | c.10795C>G (p.Leu3599Val) c.10801C>G (p.Leu3601Val) | gnomAD v4 |
| 4 | g.186603731G>T | CA358976204 | FAT1 | c.10795C>A (p.Leu3599Met) c.10801C>A (p.Leu3601Met) | dbSNP |
| 4 | g.186603732C>A | CA358976206 | FAT1 | c.10794G>T (p.Lys3598Asn) c.10800G>T (p.Lys3600Asn) | dbSNP |
| 4 | g.186603732C= | CA1520094192 | FAT1 | c.10794G= (p.Lys3598=) c.10800G= (p.Lys3600=) | |
| 4 | g.186603732C>G | CA358976208 | FAT1 | c.10794G>C (p.Lys3598Asn) c.10800G>C (p.Lys3600Asn) | |
| 4 | g.186603732C>T | CA442888323 | FAT1 | c.10794G>A (p.Lys3598=) c.10800G>A (p.Lys3600=) | dbSNP |
| 4 | g.186603733T>A | CA358976211 | FAT1 | c.10793A>T (p.Lys3598Met) c.10799A>T (p.Lys3600Met) | dbSNP |
| 4 | g.186603733T>C | CA358976213 | FAT1 | c.10793A>G (p.Lys3598Arg) c.10799A>G (p.Lys3600Arg) | dbSNP gnomAD v4 |
| 4 | g.186603733T>G | CA358976215 | FAT1 | c.10793A>C (p.Lys3598Thr) c.10799A>C (p.Lys3600Thr) | |
| 4 | g.186603734T>A | CA358976218 | FAT1 | c.10792A>T (p.Lys3598Ter) c.10798A>T (p.Lys3600Ter) | dbSNP |
| 4 | g.186603734T>C | CA358976220 | FAT1 | c.10792A>G (p.Lys3598Glu) c.10798A>G (p.Lys3600Glu) | |
| 4 | g.186603734T>G | CA358976222 | FAT1 | c.10792A>C (p.Lys3598Gln) c.10798A>C (p.Lys3600Gln) | |
| 4 | g.186603735G>A | CA3165269 | FAT1 | c.10791C>T (p.Gly3597=) c.10797C>T (p.Gly3599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603735G>C | CA442888333 | FAT1 | c.10791C>G (p.Gly3597=) c.10797C>G (p.Gly3599=) | dbSNP gnomAD v4 |
| 4 | g.186603735G= | CA1520094193 | FAT1 | c.10791C= (p.Gly3597=) c.10797C= (p.Gly3599=) | |
| 4 | g.186603735G>T | CA442888332 | FAT1 | c.10791C>A (p.Gly3597=) c.10797C>A (p.Gly3599=) | |
| 4 | g.186603736C>A | CA358976231 | FAT1 | c.10790G>T (p.Gly3597Val) c.10796G>T (p.Gly3599Val) | dbSNP |
| 4 | g.186603736C= | CA1520094194 | FAT1 | c.10790G= (p.Gly3597=) c.10796G= (p.Gly3599=) | |
| 4 | g.186603736C>G | CA358976227 | FAT1 | c.10790G>C (p.Gly3597Ala) c.10796G>C (p.Gly3599Ala) | dbSNP |
| 4 | g.186603736C>T | CA3165270 | FAT1 | c.10790G>A (p.Gly3597Asp) c.10796G>A (p.Gly3599Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603740del | CA645540588 | FAT1 | c.10790del (p.Gly3597AlafsTer3) c.10796del (p.Gly3599AlafsTer3) | gnomAD v4 COSMIC COSMIC |
| 4 | g.186603737C>A | CA358976234 | FAT1 | c.10789G>T (p.Gly3597Cys) c.10795G>T (p.Gly3599Cys) | dbSNP |
| 4 | g.186603737C= | CA1520094195 | FAT1 | c.10789G= (p.Gly3597=) c.10795G= (p.Gly3599=) | |
| 4 | g.186603737C>G | CA358976236 | FAT1 | c.10789G>C (p.Gly3597Arg) c.10795G>C (p.Gly3599Arg) | dbSNP |
| 4 | g.186603737C>T | CA112157336 | FAT1 | c.10789G>A (p.Gly3597Ser) c.10795G>A (p.Gly3599Ser) | dbSNP gnomAD v4 |
| 4 | g.186603738C>A | CA442888352 | FAT1 | c.10788G>T (p.Gly3596=) c.10794G>T (p.Gly3598=) | dbSNP |
| 4 | g.186603738C= | CA1520094196 | FAT1 | c.10788G= (p.Gly3596=) c.10794G= (p.Gly3598=) | |
| 4 | g.186603738C>G | CA442888354 | FAT1 | c.10788G>C (p.Gly3596=) c.10794G>C (p.Gly3598=) | dbSNP |
| 4 | g.186603738C>T | CA3165271 | FAT1 | c.10788G>A (p.Gly3596=) c.10794G>A (p.Gly3598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603739C>A | CA358976245 | FAT1 | c.10787G>T (p.Gly3596Val) c.10793G>T (p.Gly3598Val) | dbSNP |
| 4 | g.186603739C= | CA1520094197 | FAT1 | c.10787G= (p.Gly3596=) c.10793G= (p.Gly3598=) | |
| 4 | g.186603739C>G | CA358976243 | FAT1 | c.10787G>C (p.Gly3596Ala) c.10793G>C (p.Gly3598Ala) | dbSNP |
| 4 | g.186603739C>T | CA3165272 | FAT1 | c.10787G>A (p.Gly3596Glu) c.10793G>A (p.Gly3598Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603740C>A | CA358976248 | FAT1 | c.10786G>T (p.Gly3596Trp) c.10792G>T (p.Gly3598Trp) | dbSNP gnomAD v4 |
| 4 | g.186603740C= | CA1520094198 | FAT1 | c.10786G= (p.Gly3596=) c.10792G= (p.Gly3598=) | |
| 4 | g.186603740C>G | CA358976250 | FAT1 | c.10786G>C (p.Gly3596Arg) c.10792G>C (p.Gly3598Arg) | dbSNP |
| 4 | g.186603740C>T | CA112157341 | FAT1 | c.10786G>A (p.Gly3596Arg) c.10792G>A (p.Gly3598Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603740_186603741del | CA2578250850 | FAT1 | c.10785_10786del (p.Gly3597GlnfsTer?) c.10791_10792del (p.Gly3599GlnfsTer?) | gnomAD v4 |
| 4 | g.186603741T>A | CA442888364 | FAT1 | c.10785A>T (p.Thr3595=) c.10791A>T (p.Thr3597=) | dbSNP |
| 4 | g.186603741T>C | CA442888365 | FAT1 | c.10785A>G (p.Thr3595=) c.10791A>G (p.Thr3597=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603741T>G | CA442888366 | FAT1 | c.10785A>C (p.Thr3595=) c.10791A>C (p.Thr3597=) | |
| 4 | g.186603741T= | CA1520094199 | FAT1 | c.10785A= (p.Thr3595=) c.10791A= (p.Thr3597=) | |
| 4 | g.186603742G>A | CA358976253 | FAT1 | c.10784C>T (p.Thr3595Ile) c.10790C>T (p.Thr3597Ile) | gnomAD v4 |
| 4 | g.186603742G>C | CA358976255 | FAT1 | c.10784C>G (p.Thr3595Arg) c.10790C>G (p.Thr3597Arg) | dbSNP |
| 4 | g.186603742G= | CA1520094200 | FAT1 | c.10784C= (p.Thr3595=) c.10790C= (p.Thr3597=) | |
| 4 | g.186603742G>T | CA358976257 | FAT1 | c.10784C>A (p.Thr3595Lys) c.10790C>A (p.Thr3597Lys) | |
| 4 | g.186603743T>A | CA358976260 | FAT1 | c.10783A>T (p.Thr3595Ser) c.10789A>T (p.Thr3597Ser) | dbSNP |
| 4 | g.186603743T>C | CA358976263 | FAT1 | c.10783A>G (p.Thr3595Ala) c.10789A>G (p.Thr3597Ala) | |
| 4 | g.186603743T>G | CA358976261 | FAT1 | c.10783A>C (p.Thr3595Pro) c.10789A>C (p.Thr3597Pro) | dbSNP |
| 4 | g.186603744G>A | CA442888376 | FAT1 | c.10782C>T (p.Ser3594=) c.10788C>T (p.Ser3596=) | dbSNP gnomAD v4 |
| 4 | g.186603744G>C | CA358976265 | FAT1 | c.10782C>G (p.Ser3594Arg) c.10788C>G (p.Ser3596Arg) | dbSNP |
| 4 | g.186603744G>T | CA358976266 | FAT1 | c.10782C>A (p.Ser3594Arg) c.10788C>A (p.Ser3596Arg) | dbSNP |
| 4 | g.186603745C>A | CA358976269 | FAT1 | c.10781G>T (p.Ser3594Ile) c.10787G>T (p.Ser3596Ile) | dbSNP |
| 4 | g.186603745C>G | CA358976271 | FAT1 | c.10781G>C (p.Ser3594Thr) c.10787G>C (p.Ser3596Thr) | dbSNP |
| 4 | g.186603745C>T | CA358976273 | FAT1 | c.10781G>A (p.Ser3594Asn) c.10787G>A (p.Ser3596Asn) | dbSNP |
| 4 | g.186603746T>A | CA358976277 | FAT1 | c.10780A>T (p.Ser3594Cys) c.10786A>T (p.Ser3596Cys) | |
| 4 | g.186603746T>C | CA358976278 | FAT1 | c.10780A>G (p.Ser3594Gly) c.10786A>G (p.Ser3596Gly) | gnomAD v4 |
| 4 | g.186603746T>G | CA358976281 | FAT1 | c.10780A>C (p.Ser3594Arg) c.10786A>C (p.Ser3596Arg) | |
| 4 | g.186603747G>A | CA442888388 | FAT1 | c.10779C>T (p.Ser3593=) c.10785C>T (p.Ser3595=) | dbSNP |
| 4 | g.186603747G>C | CA442888391 | FAT1 | c.10779C>G (p.Ser3593=) c.10785C>G (p.Ser3595=) | dbSNP |
| 4 | g.186603747G= | CA1520094201 | FAT1 | c.10779C= (p.Ser3593=) c.10785C= (p.Ser3595=) | |
| 4 | g.186603747G>T | CA442888392 | FAT1 | c.10779C>A (p.Ser3593=) c.10785C>A (p.Ser3595=) | |
| 4 | g.186603748del | CA2708141099 | FAT1 | c.10779del (p.Ser3594AlafsTer6) c.10785del (p.Ser3596AlafsTer6) | dbSNP |
| 4 | g.186603748G>A | CA358976284 | FAT1 | c.10778C>T (p.Ser3593Phe) c.10784C>T (p.Ser3595Phe) | dbSNP |
| 4 | g.186603748G>C | CA358976286 | FAT1 | c.10778C>G (p.Ser3593Cys) c.10784C>G (p.Ser3595Cys) | dbSNP |
| 4 | g.186603748G= | CA1520094202 | FAT1 | c.10778C= (p.Ser3593=) c.10784C= (p.Ser3595=) | |
| 4 | g.186603748G>T | CA358976288 | FAT1 | c.10778C>A (p.Ser3593Tyr) c.10784C>A (p.Ser3595Tyr) | dbSNP |
| 4 | g.186603749A= | CA1520094203 | FAT1 | c.10777T= (p.Ser3593=) c.10783T= (p.Ser3595=) | |
| 4 | g.186603749A>C | CA112157344 | FAT1 | c.10777T>G (p.Ser3593Ala) c.10783T>G (p.Ser3595Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603749A>G | CA358976294 | FAT1 | c.10777T>C (p.Ser3593Pro) c.10783T>C (p.Ser3595Pro) | dbSNP |
| 4 | g.186603749A>T | CA358976292 | FAT1 | c.10777T>A (p.Ser3593Thr) c.10783T>A (p.Ser3595Thr) | dbSNP |
| 4 | g.186603750A>C | CA442888399 | FAT1 | c.10776T>G (p.Val3592=) c.10782T>G (p.Val3594=) | |
| 4 | g.186603750A>G | CA442888401 | FAT1 | c.10776T>C (p.Val3592=) c.10782T>C (p.Val3594=) | dbSNP |
| 4 | g.186603750A>T | CA442888402 | FAT1 | c.10776T>A (p.Val3592=) c.10782T>A (p.Val3594=) | dbSNP |
| 4 | g.186603751A>C | CA358976297 | FAT1 | c.10775T>G (p.Val3592Gly) c.10781T>G (p.Val3594Gly) | dbSNP |
| 4 | g.186603751A>G | CA358976299 | FAT1 | c.10775T>C (p.Val3592Ala) c.10781T>C (p.Val3594Ala) | dbSNP |
| 4 | g.186603751A>T | CA358976301 | FAT1 | c.10775T>A (p.Val3592Asp) c.10781T>A (p.Val3594Asp) | dbSNP |
| 4 | g.186603752C>A | CA358976302 | FAT1 | c.10774G>T (p.Val3592Phe) c.10780G>T (p.Val3594Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186603752C= | CA1520094204 | FAT1 | c.10774G= (p.Val3592=) c.10780G= (p.Val3594=) | |
| 4 | g.186603752C>G | CA358976303 | FAT1 | c.10774G>C (p.Val3592Leu) c.10780G>C (p.Val3594Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186603752C>T | CA358976305 | FAT1 | c.10774G>A (p.Val3592Ile) c.10780G>A (p.Val3594Ile) | dbSNP |
| 4 | g.186603752_186603754delinsCAG | CA1520094205 | FAT1 | c.10772_10774delinsCTG (p.Ser3591=) c.10778_10780delinsCTG (p.Ser3593=) | |
| 4 | g.186603753A= | CA1520094206 | FAT1 | c.10773T= (p.Ser3591=) c.10779T= (p.Ser3593=) | |
| 4 | g.186603753A>C | CA442888412 | FAT1 | c.10773T>G (p.Ser3591=) c.10779T>G (p.Ser3593=) | |
| 4 | g.186603753A>G | CA3165273 | FAT1 | c.10773T>C (p.Ser3591=) c.10779T>C (p.Ser3593=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.186603753A>T | CA442888414 | FAT1 | c.10773T>A (p.Ser3591=) c.10779T>A (p.Ser3593=) | dbSNP |
| 4 | g.186603756_186603757del | CA1520094207 | FAT1 | c.10772_10773del (p.Ser3591CysfsTer?) c.10778_10779del (p.Ser3593CysfsTer?) | dbSNP |
| 4 | g.186603754G>A | CA358976309 | FAT1 | c.10772C>T (p.Ser3591Phe) c.10778C>T (p.Ser3593Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603754G>C | CA358976311 | FAT1 | c.10772C>G (p.Ser3591Cys) c.10778C>G (p.Ser3593Cys) | dbSNP |
| 4 | g.186603754G= | CA1520094208 | FAT1 | c.10772C= (p.Ser3591=) c.10778C= (p.Ser3593=) | |
| 4 | g.186603754G>T | CA358976313 | FAT1 | c.10772C>A (p.Ser3591Tyr) c.10778C>A (p.Ser3593Tyr) | dbSNP |
| 4 | g.186603755A= | CA1520094209 | FAT1 | c.10771T= (p.Ser3591=) c.10777T= (p.Ser3593=) | |
| 4 | g.186603755A>C | CA358976316 | FAT1 | c.10771T>G (p.Ser3591Ala) c.10777T>G (p.Ser3593Ala) | |
| 4 | g.186603755A>G | CA358976318 | FAT1 | c.10771T>C (p.Ser3591Pro) c.10777T>C (p.Ser3593Pro) | dbSNP |
| 4 | g.186603755A>T | CA112157354 | FAT1 | c.10771T>A (p.Ser3591Thr) c.10777T>A (p.Ser3593Thr) | dbSNP gnomAD v4 |
| 4 | g.186603756G>A | CA442888425 | FAT1 | c.10770C>T (p.Phe3590=) c.10776C>T (p.Phe3592=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.186603756G>C | CA3165274 | FAT1 | c.10770C>G (p.Phe3590Leu) c.10776C>G (p.Phe3592Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603756G= | CA1520094210 | FAT1 | c.10770C= (p.Phe3590=) c.10776C= (p.Phe3592=) | |
| 4 | g.186603756G>T | CA358976321 | FAT1 | c.10770C>A (p.Phe3590Leu) c.10776C>A (p.Phe3592Leu) | COSMIC COSMIC |
| 4 | g.186603757A>C | CA358976324 | FAT1 | c.10769T>G (p.Phe3590Cys) c.10775T>G (p.Phe3592Cys) | |
| 4 | g.186603757A>G | CA358976326 | FAT1 | c.10769T>C (p.Phe3590Ser) c.10775T>C (p.Phe3592Ser) | dbSNP |
| 4 | g.186603757A>T | CA358976327 | FAT1 | c.10769T>A (p.Phe3590Tyr) c.10775T>A (p.Phe3592Tyr) | |
| 4 | g.186603758A>C | CA358976330 | FAT1 | c.10768T>G (p.Phe3590Val) c.10774T>G (p.Phe3592Val) | dbSNP |
| 4 | g.186603758A>G | CA358976332 | FAT1 | c.10768T>C (p.Phe3590Leu) c.10774T>C (p.Phe3592Leu) | dbSNP |
| 4 | g.186603758A>T | CA358976334 | FAT1 | c.10768T>A (p.Phe3590Ile) c.10774T>A (p.Phe3592Ile) | dbSNP |
| 4 | g.186603759C>A | CA442888432 | FAT1 | c.10767G>T (p.Leu3589=) c.10773G>T (p.Leu3591=) | dbSNP |
| 4 | g.186603759C>G | CA442888433 | FAT1 | c.10767G>C (p.Leu3589=) c.10773G>C (p.Leu3591=) | dbSNP |
| 4 | g.186603759C>T | CA442888435 | FAT1 | c.10767G>A (p.Leu3589=) c.10773G>A (p.Leu3591=) | dbSNP |
| 4 | g.186603759_186603762delinsCAGG | CA1520094211 | FAT1 | c.10764_10767delinsCCTG (p.Asn3588=) c.10770_10773delinsCCTG (p.Asn3590=) | |
| 4 | g.186603760A= | CA1520094212 | FAT1 | c.10766T= (p.Leu3589=) c.10772T= (p.Leu3591=) | |
| 4 | g.186603760A>C | CA358976337 | FAT1 | c.10766T>G (p.Leu3589Arg) c.10772T>G (p.Leu3591Arg) | dbSNP |
| 4 | g.186603760A>G | CA358976339 | FAT1 | c.10766T>C (p.Leu3589Pro) c.10772T>C (p.Leu3591Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186603760A>T | CA358976342 | FAT1 | c.10766T>A (p.Leu3589Gln) c.10772T>A (p.Leu3591Gln) | dbSNP |
| 4 | g.186603760_186603762del | CA3165275 | FAT1 | c.10764_10766del (p.Asn3588_Leu3589delinsLys) c.10770_10772del (p.Asn3590_Leu3591delinsLys) | dbSNP ExAC gnomAD v2 |
| 4 | g.186603761G>A | CA442888444 | FAT1 | c.10765C>T (p.Leu3589=) c.10771C>T (p.Leu3591=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186603761G>C | CA358976346 | FAT1 | c.10765C>G (p.Leu3589Val) c.10771C>G (p.Leu3591Val) | dbSNP |
| 4 | g.186603761G= | CA1520094213 | FAT1 | c.10765C= (p.Leu3589=) c.10771C= (p.Leu3591=) | |
| 4 | g.186603761G>T | CA3165276 | FAT1 | c.10765C>A (p.Leu3589Met) c.10771C>A (p.Leu3591Met) | dbSNP ExAC gnomAD v2 |
| 4 | g.186603762G>A | CA442888447 | FAT1 | c.10764C>T (p.Asn3588=) c.10770C>T (p.Asn3590=) | dbSNP |
| 4 | g.186603762G>C | CA358976350 | FAT1 | c.10764C>G (p.Asn3588Lys) c.10770C>G (p.Asn3590Lys) | dbSNP |
| 4 | g.186603762G>T | CA358976352 | FAT1 | c.10764C>A (p.Asn3588Lys) c.10770C>A (p.Asn3590Lys) | dbSNP |
| 4 | g.186603763T>A | CA358976356 | FAT1 | c.10763A>T (p.Asn3588Ile) c.10769A>T (p.Asn3590Ile) | dbSNP |
| 4 | g.186603763T>C | CA112157369 | FAT1 | c.10763A>G (p.Asn3588Ser) c.10769A>G (p.Asn3590Ser) | dbSNP gnomAD v4 |
| 4 | g.186603763T>G | CA358976358 | FAT1 | c.10763A>C (p.Asn3588Thr) c.10769A>C (p.Asn3590Thr) | dbSNP |
| 4 | g.186603763T= | CA1520094214 | FAT1 | c.10763A= (p.Asn3588=) c.10769A= (p.Asn3590=) | |
| 4 | g.186603764T>A | CA358976362 | FAT1 | c.10762A>T (p.Asn3588Tyr) c.10768A>T (p.Asn3590Tyr) | dbSNP |
| 4 | g.186603764T>C | CA358976364 | FAT1 | c.10762A>G (p.Asn3588Asp) c.10768A>G (p.Asn3590Asp) | |
| 4 | g.186603764T>G | CA358976365 | FAT1 | c.10762A>C (p.Asn3588His) c.10768A>C (p.Asn3590His) | |
| 4 | g.186603765G>A | CA442888458 | FAT1 | c.10761C>T (p.Asp3587=) c.10767C>T (p.Asp3589=) | |
| 4 | g.186603765G>C | CA358976367 | FAT1 | c.10761C>G (p.Asp3587Glu) c.10767C>G (p.Asp3589Glu) | |
| 4 | g.186603765G>T | CA358976369 | FAT1 | c.10761C>A (p.Asp3587Glu) c.10767C>A (p.Asp3589Glu) | |
| 4 | g.186603766T>A | CA358976376 | FAT1 | c.10760A>T (p.Asp3587Val) c.10766A>T (p.Asp3589Val) | |
| 4 | g.186603766T>C | CA358976374 | FAT1 | c.10760A>G (p.Asp3587Gly) c.10766A>G (p.Asp3589Gly) | gnomAD v4 |
| 4 | g.186603766T>G | CA358976372 | FAT1 | c.10760A>C (p.Asp3587Ala) c.10766A>C (p.Asp3589Ala) | |
| 4 | g.186603767C>A | CA358976378 | FAT1 | c.10759G>T (p.Asp3587Tyr) c.10765G>T (p.Asp3589Tyr) | dbSNP COSMIC COSMIC |
| 4 | g.186603767C= | CA1520094215 | FAT1 | c.10759G= (p.Asp3587=) c.10765G= (p.Asp3589=) | |
| 4 | g.186603767C>G | CA358976380 | FAT1 | c.10759G>C (p.Asp3587His) c.10765G>C (p.Asp3589His) | dbSNP |
| 4 | g.186603767C>T | CA3165277 | FAT1 | c.10759G>A (p.Asp3587Asn) c.10765G>A (p.Asp3589Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.186603768C>A | CA358976384 | FAT1 | c.10758G>T (p.Met3586Ile) c.10764G>T (p.Met3588Ile) | dbSNP |
| 4 | g.186603768C>G | CA358976385 | FAT1 | c.10758G>C (p.Met3586Ile) c.10764G>C (p.Met3588Ile) | dbSNP |
| 4 | g.186603768C>T | CA358976387 | FAT1 | c.10758G>A (p.Met3586Ile) c.10764G>A (p.Met3588Ile) | dbSNP gnomAD v4 |
| 4 | g.186603769A= | CA1520094216 | FAT1 | c.10757T= (p.Met3586=) c.10763T= (p.Met3588=) | |
| 4 | g.186603769A>C | CA358976389 | FAT1 | c.10757T>G (p.Met3586Arg) c.10763T>G (p.Met3588Arg) | dbSNP |
| 4 | g.186603769A>G | CA3165278 | FAT1 | c.10757T>C (p.Met3586Thr) c.10763T>C (p.Met3588Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186603769A>T | CA358976391 | FAT1 | c.10757T>A (p.Met3586Lys) c.10763T>A (p.Met3588Lys) | dbSNP |
| 4 | g.186603770T>A | CA358976396 | FAT1 | c.10756A>T (p.Met3586Leu) c.10762A>T (p.Met3588Leu) | dbSNP |
| 4 | g.186603770T>C | CA358976398 | FAT1 | c.10756A>G (p.Met3586Val) c.10762A>G (p.Met3588Val) | dbSNP gnomAD v4 |
| 4 | g.186603770T>G | CA358976400 | FAT1 | c.10756A>C (p.Met3586Leu) c.10762A>C (p.Met3588Leu) | |
| 4 | g.186603771C>A | CA358976402 | FAT1 | c.10755G>T (p.Gln3585His) c.10761G>T (p.Gln3587His) | dbSNP |
| 4 | g.186603771C>G | CA358976403 | FAT1 | c.10755G>C (p.Gln3585His) c.10761G>C (p.Gln3587His) | dbSNP |
| 4 | g.186603771C>T | CA442888783 | FAT1 | c.10755G>A (p.Gln3585=) c.10761G>A (p.Gln3587=) | dbSNP |