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 |
|---|---|---|---|---|---|
| 14 | g.28767794_28767856del | CA2573053892 | FOXG1 | c.515_577del (p.Gly172_Met192del) | ClinVar dbSNP |
| 14 | g.28767826C>A | CA389475332 | FOXG1 | c.547C>A (p.Pro183Thr) | |
| 14 | g.28767826C>G | CA389475333 | FOXG1 | c.547C>G (p.Pro183Ala) | |
| 14 | g.28767826C>T | CA389475334 | FOXG1 | c.547C>T (p.Pro183Ser) | |
| 14 | g.28767827C>A | CA389475335 | FOXG1 | c.548C>A (p.Pro183Gln) | |
| 14 | g.28767827C= | CA2125999732 | FOXG1 | c.548C= (p.Pro183=) | |
| 14 | g.28767827C>G | CA389475336 | FOXG1 | c.548C>G (p.Pro183Arg) | dbSNP |
| 14 | g.28767827C>T | CA389475337 | FOXG1 | c.548C>T (p.Pro183Leu) | COSMIC |
| 14 | g.28767828G>A | CA7140616 | FOXG1 | c.549G>A (p.Pro183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.28767828G>C | CA486098530 | FOXG1 | c.549G>C (p.Pro183=) | |
| 14 | g.28767828G= | CA2125999734 | FOXG1 | c.549G= (p.Pro183=) | |
| 14 | g.28767828G>T | CA486098528 | FOXG1 | c.549G>T (p.Pro183=) | gnomAD v4 |
| 14 | g.28767829T>A | CA389475340 | FOXG1 | c.550T>A (p.Phe184Ile) | |
| 14 | g.28767829T>C | CA389475339 | FOXG1 | c.550T>C (p.Phe184Leu) | dbSNP |
| 14 | g.28767829T>G | CA389475338 | FOXG1 | c.550T>G (p.Phe184Val) | |
| 14 | g.28767829T= | CA2125999736 | FOXG1 | c.550T= (p.Phe184=) | |
| 14 | g.28767830T>A | CA389475341 | FOXG1 | c.551T>A (p.Phe184Tyr) | |
| 14 | g.28767830T>C | CA389475342 | FOXG1 | c.551T>C (p.Phe184Ser) | |
| 14 | g.28767830T>G | CA389475343 | FOXG1 | c.551T>G (p.Phe184Cys) | |
| 14 | g.28767830T= | CA2125999738 | FOXG1 | c.551T= (p.Phe184=) | |
| 14 | g.28767830_28767831delinsTC | CA2125999740 | FOXG1 | c.551_552delinsTC (p.Phe184=) | |
| 14 | g.28767831del | CA915948875 | FOXG1 | c.552del (p.Phe184LeufsTer8) | ClinVar dbSNP |
| 14 | g.28767831C>A | CA389475344 | FOXG1 | c.552C>A (p.Phe184Leu) | |
| 14 | g.28767831C>G | CA389475345 | FOXG1 | c.552C>G (p.Phe184Leu) | COSMIC |
| 14 | g.28767831C>T | CA486098541 | FOXG1 | c.552C>T (p.Phe184=) | gnomAD v4 |
| 14 | g.28767831dup | CA199437 | FOXG1 | c.552dup (p.Ser185GlnfsTer?) | ClinVar dbSNP |
| 14 | g.28767832A= | CA2125999753 | FOXG1 | c.553A= (p.Ser185=) | |
| 14 | g.28767832A>C | CA389475346 | FOXG1 | c.553A>C (p.Ser185Arg) | |
| 14 | g.28767832A>G | CA389475347 | FOXG1 | c.553A>G (p.Ser185Gly) | ClinVar dbSNP |
| 14 | g.28767832A>T | CA10586143 | FOXG1 | c.553A>T (p.Ser185Cys) | ClinVar dbSNP |
| 14 | g.28767833G>A | CA389475348 | FOXG1 | c.554G>A (p.Ser185Asn) | |
| 14 | g.28767833G>C | CA389475349 | FOXG1 | c.554G>C (p.Ser185Thr) | ClinVar dbSNP |
| 14 | g.28767833G= | CA2125999756 | FOXG1 | c.554G= (p.Ser185=) | |
| 14 | g.28767833G>T | CA10654909 | FOXG1 | c.554G>T (p.Ser185Ile) | ClinVar dbSNP |
| 14 | g.28767834C>A | CA389475351 | FOXG1 | c.555C>A (p.Ser185Arg) | |
| 14 | g.28767834C= | CA2125999760 | FOXG1 | c.555C= (p.Ser185=) | |
| 14 | g.28767834C>G | CA389475350 | FOXG1 | c.555C>G (p.Ser185Arg) | |
| 14 | g.28767834C>T | CA7140617 | FOXG1 | c.555C>T (p.Ser185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.28767835T>A | CA389475352 | FOXG1 | c.556T>A (p.Tyr186Asn) | |
| 14 | g.28767835T>C | CA389475353 | FOXG1 | c.556T>C (p.Tyr186His) | |
| 14 | g.28767835T>G | CA389475354 | FOXG1 | c.556T>G (p.Tyr186Asp) | |
| 14 | g.28767836A>C | CA389475355 | FOXG1 | c.557A>C (p.Tyr186Ser) | |
| 14 | g.28767836A>G | CA389475356 | FOXG1 | c.557A>G (p.Tyr186Cys) | |
| 14 | g.28767836A>T | CA389475357 | FOXG1 | c.557A>T (p.Tyr186Phe) | |
| 14 | g.28767838_28767840del | CA2580088007 | FOXG1 | c.559_561del (p.Asn187del) | ClinVar |
| 14 | g.28767837C>A | CA389475358 | FOXG1 | c.558C>A (p.Tyr186Ter) | |
| 14 | g.28767837C>G | CA389475359 | FOXG1 | c.558C>G (p.Tyr186Ter) | |
| 14 | g.28767837C>T | CA486098549 | FOXG1 | c.558C>T (p.Tyr186=) | |
| 14 | g.28767838A>C | CA389475360 | FOXG1 | c.559A>C (p.Asn187His) | |
| 14 | g.28767838A>G | CA389475361 | FOXG1 | c.559A>G (p.Asn187Asp) | ClinVar dbSNP |
| 14 | g.28767838A>T | CA389475362 | FOXG1 | c.559A>T (p.Asn187Tyr) | ClinVar dbSNP |
| 14 | g.28767839A>C | CA389475363 | FOXG1 | c.560A>C (p.Asn187Thr) | |
| 14 | g.28767839A>G | CA389475364 | FOXG1 | c.560A>G (p.Asn187Ser) | |
| 14 | g.28767839A>T | CA389475365 | FOXG1 | c.560A>T (p.Asn187Ile) | |
| 14 | g.28767840C>A | CA204685 | FOXG1 | c.561C>A (p.Asn187Lys) | ClinVar dbSNP |
| 14 | g.28767840C= | CA2125999767 | FOXG1 | c.561C= (p.Asn187=) | |
| 14 | g.28767840C>G | CA10588574 | FOXG1 | c.561C>G (p.Asn187Lys) | ClinVar dbSNP |
| 14 | g.28767840C>T | CA486098554 | FOXG1 | c.561C>T (p.Asn187=) | COSMIC |
| 14 | g.28767841G>A | CA389475366 | FOXG1 | c.562G>A (p.Ala188Thr) | COSMIC |
| 14 | g.28767841G>C | CA389475367 | FOXG1 | c.562G>C (p.Ala188Pro) | |
| 14 | g.28767841G>T | CA389475368 | FOXG1 | c.562G>T (p.Ala188Ser) | |
| 14 | g.28767842C>A | CA389475369 | FOXG1 | c.563C>A (p.Ala188Glu) | ClinVar dbSNP |
| 14 | g.28767842C= | CA2125999773 | FOXG1 | c.563C= (p.Ala188=) | |
| 14 | g.28767842C>G | CA172187 | FOXG1 | c.563C>G (p.Ala188Gly) | ClinVar dbSNP |
| 14 | g.28767842C>T | CA389475370 | FOXG1 | c.563C>T (p.Ala188Val) | COSMIC |
| 14 | g.28767843G>A | CA486098560 | FOXG1 | c.564G>A (p.Ala188=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.28767843G>C | CA486098561 | FOXG1 | c.564G>C (p.Ala188=) | gnomAD v4 |
| 14 | g.28767843G>T | CA486098562 | FOXG1 | c.564G>T (p.Ala188=) | |
| 14 | g.28767844C>A | CA389475371 | FOXG1 | c.565C>A (p.Leu189Ile) | |
| 14 | g.28767844C= | CA2125999778 | FOXG1 | c.565C= (p.Leu189=) | |
| 14 | g.28767844C>G | CA389475372 | FOXG1 | c.565C>G (p.Leu189Val) | ClinVar dbSNP |
| 14 | g.28767844C>T | CA389475373 | FOXG1 | c.565C>T (p.Leu189Phe) | ClinVar dbSNP |
| 14 | g.28767845T>A | CA389475374 | FOXG1 | c.566T>A (p.Leu189His) | |
| 14 | g.28767845T>C | CA389475375 | FOXG1 | c.566T>C (p.Leu189Pro) | |
| 14 | g.28767845T>G | CA389475376 | FOXG1 | c.566T>G (p.Leu189Arg) | |
| 14 | g.28767846C>A | CA486098572 | FOXG1 | c.567C>A (p.Leu189=) | |
| 14 | g.28767846C= | CA2125999781 | FOXG1 | c.567C= (p.Leu189=) | |
| 14 | g.28767846C>G | CA486098573 | FOXG1 | c.567C>G (p.Leu189=) | |
| 14 | g.28767846C>T | CA7140618 | FOXG1 | c.567C>T (p.Leu189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.28767847A>C | CA389475379 | FOXG1 | c.568A>C (p.Ile190Leu) | |
| 14 | g.28767847A>G | CA389475377 | FOXG1 | c.568A>G (p.Ile190Val) | |
| 14 | g.28767847A>T | CA389475378 | FOXG1 | c.568A>T (p.Ile190Phe) | ClinVar |
| 14 | g.28767848T>A | CA389475380 | FOXG1 | c.569T>A (p.Ile190Asn) | |
| 14 | g.28767848T>C | CA389475381 | FOXG1 | c.569T>C (p.Ile190Thr) | |
| 14 | g.28767848T>G | CA389475382 | FOXG1 | c.569T>G (p.Ile190Ser) | |
| 14 | g.28767849C>A | CA258396574 | FOXG1 | c.570C>A (p.Ile190=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.28767849C= | CA2125999785 | FOXG1 | c.570C= (p.Ile190=) | |
| 14 | g.28767849C>G | CA389475383 | FOXG1 | c.570C>G (p.Ile190Met) | |
| 14 | g.28767849C>T | CA486098576 | FOXG1 | c.570C>T (p.Ile190=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.28767850A>C | CA389475386 | FOXG1 | c.571A>C (p.Met191Leu) | |
| 14 | g.28767850A>G | CA389475385 | FOXG1 | c.571A>G (p.Met191Val) | |
| 14 | g.28767850A>T | CA389475384 | FOXG1 | c.571A>T (p.Met191Leu) | |
| 14 | g.28767851T>A | CA389475387 | FOXG1 | c.572T>A (p.Met191Lys) | |
| 14 | g.28767851T>C | CA389475388 | FOXG1 | c.572T>C (p.Met191Thr) | |
| 14 | g.28767851T>G | CA389475389 | FOXG1 | c.572T>G (p.Met191Arg) | ClinVar dbSNP |
| 14 | g.28767852G>A | CA389475390 | FOXG1 | c.573G>A (p.Met191Ile) | ClinVar dbSNP |
| 14 | g.28767852G>C | CA389475391 | FOXG1 | c.573G>C (p.Met191Ile) | |
| 14 | g.28767852G= | CA2125999790 | FOXG1 | c.573G= (p.Met191=) | |
| 14 | g.28767852G>T | CA389475392 | FOXG1 | c.573G>T (p.Met191Ile) | COSMIC |
| 14 | g.28767853A>C | CA389475393 | FOXG1 | c.574A>C (p.Met192Leu) | |
| 14 | g.28767853A>G | CA389475395 | FOXG1 | c.574A>G (p.Met192Val) | |
| 14 | g.28767853A>T | CA389475394 | FOXG1 | c.574A>T (p.Met192Leu) | |
| 14 | g.28767854T>A | CA389475396 | FOXG1 | c.575T>A (p.Met192Lys) | |
| 14 | g.28767854T>C | CA389475397 | FOXG1 | c.575T>C (p.Met192Thr) | |
| 14 | g.28767854T>G | CA389475398 | FOXG1 | c.575T>G (p.Met192Arg) | |
| 14 | g.28767855G>A | CA389475399 | FOXG1 | c.576G>A (p.Met192Ile) | ClinVar |
| 14 | g.28767855G>C | CA389475400 | FOXG1 | c.576G>C (p.Met192Ile) | |
| 14 | g.28767855G>T | CA389475401 | FOXG1 | c.576G>T (p.Met192Ile) | |
| 14 | g.28767856G>A | CA199438 | FOXG1 | c.577G>A (p.Ala193Thr) | ClinVar dbSNP |
| 14 | g.28767856G>C | CA389475402 | FOXG1 | c.577G>C (p.Ala193Pro) | |
| 14 | g.28767856G= | CA2125999794 | FOXG1 | c.577G= (p.Ala193=) | |
| 14 | g.28767856G>T | CA389475403 | FOXG1 | c.577G>T (p.Ala193Ser) | |
| 14 | g.28767857C>A | CA389475404 | FOXG1 | c.578C>A (p.Ala193Asp) | ClinVar dbSNP |
| 14 | g.28767857C>G | CA389475405 | FOXG1 | c.578C>G (p.Ala193Gly) | |
| 14 | g.28767857C>T | CA389475406 | FOXG1 | c.578C>T (p.Ala193Val) | ClinVar |
| 14 | g.28767858C>A | CA486098595 | FOXG1 | c.579C>A (p.Ala193=) | |
| 14 | g.28767858C>G | CA486098596 | FOXG1 | c.579C>G (p.Ala193=) | COSMIC |
| 14 | g.28767858C>T | CA486098597 | FOXG1 | c.579C>T (p.Ala193=) | gnomAD v4 |
| 14 | g.28767859A>C | CA389475407 | FOXG1 | c.580A>C (p.Ile194Leu) | |
| 14 | g.28767859A>G | CA389475409 | FOXG1 | c.580A>G (p.Ile194Val) | |
| 14 | g.28767859A>T | CA389475408 | FOXG1 | c.580A>T (p.Ile194Phe) | |
| 14 | g.28767860T>A | CA389475410 | FOXG1 | c.581T>A (p.Ile194Asn) | |
| 14 | g.28767860T>C | CA389475411 | FOXG1 | c.581T>C (p.Ile194Thr) | ClinVar |
| 14 | g.28767860T>G | CA389475412 | FOXG1 | c.581T>G (p.Ile194Ser) | ClinVar dbSNP |
| 14 | g.28767861C>A | CA486098603 | FOXG1 | c.582C>A (p.Ile194=) | dbSNP |
| 14 | g.28767861C= | CA2125999799 | FOXG1 | c.582C= (p.Ile194=) | |
| 14 | g.28767861C>G | CA389475413 | FOXG1 | c.582C>G (p.Ile194Met) | |
| 14 | g.28767861C>T | CA7140619 | FOXG1 | c.582C>T (p.Ile194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.28767862C>A | CA486098606 | FOXG1 | c.583C>A (p.Arg195=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.28767862C= | CA2125999802 | FOXG1 | c.583C= (p.Arg195=) | |
| 14 | g.28767862C>G | CA389475414 | FOXG1 | c.583C>G (p.Arg195Gly) | |
| 14 | g.28767862C>T | CA389475415 | FOXG1 | c.583C>T (p.Arg195Trp) | |
| 14 | g.28767863G>A | CA258396575 | FOXG1 | c.584G>A (p.Arg195Gln) | dbSNP |
| 14 | g.28767863G>C | CA389475416 | FOXG1 | c.584G>C (p.Arg195Pro) | ClinVar dbSNP |
| 14 | g.28767863G= | CA2125999809 | FOXG1 | c.584G= (p.Arg195=) | |
| 14 | g.28767863G>T | CA389475417 | FOXG1 | c.584G>T (p.Arg195Leu) | |
| 14 | g.28767864G>A | CA486098609 | FOXG1 | c.585G>A (p.Arg195=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.28767864G>C | CA486098610 | FOXG1 | c.585G>C (p.Arg195=) | |
| 14 | g.28767864G= | CA2125999816 | FOXG1 | c.585G= (p.Arg195=) | |
| 14 | g.28767864G>T | CA486098611 | FOXG1 | c.585G>T (p.Arg195=) | |
| 14 | g.28767864_28767865delinsGC | CA2125999812 | FOXG1 | c.585_586delinsGC (p.Arg195=) | |
| 14 | g.28767864_28767865delinsTT | CA16619861 | FOXG1 | c.585_586delinsTT (p.Arg196Ter) | ClinVar dbSNP |
| 14 | g.28767865C>A | CA389475418 | FOXG1 | c.586C>A (p.Gln196Lys) | |
| 14 | g.28767865C= | CA2125999820 | FOXG1 | c.586C= (p.Gln196=) | |
| 14 | g.28767865C>G | CA389475419 | FOXG1 | c.586C>G (p.Gln196Glu) | |
| 14 | g.28767865C>T | CA314610 | FOXG1 | c.586C>T (p.Gln196Ter) | ClinVar dbSNP |
| 14 | g.28767866del | CA2695219193 | FOXG1 | c.587del (p.Gln196ArgfsTer17) | |
| 14 | g.28767866A>C | CA389475420 | FOXG1 | c.587A>C (p.Gln196Pro) | ClinVar dbSNP |
| 14 | g.28767866A>G | CA389475422 | FOXG1 | c.587A>G (p.Gln196Arg) | |
| 14 | g.28767866A>T | CA389475421 | FOXG1 | c.587A>T (p.Gln196Leu) | |
| 14 | g.28767867G>A | CA486098623 | FOXG1 | c.588G>A (p.Gln196=) | |
| 14 | g.28767867G>C | CA389475423 | FOXG1 | c.588G>C (p.Gln196His) | |
| 14 | g.28767867G>T | CA389475424 | FOXG1 | c.588G>T (p.Gln196His) | |
| 14 | g.28767868A>C | CA389475425 | FOXG1 | c.589A>C (p.Ser197Arg) | |
| 14 | g.28767868A>G | CA389475426 | FOXG1 | c.589A>G (p.Ser197Gly) | |
| 14 | g.28767868A>T | CA389475427 | FOXG1 | c.589A>T (p.Ser197Cys) | |
| 14 | g.28767869G>A | CA389475428 | FOXG1 | c.590G>A (p.Ser197Asn) | |
| 14 | g.28767869G>C | CA389475429 | FOXG1 | c.590G>C (p.Ser197Thr) | |
| 14 | g.28767869G= | CA2125999824 | FOXG1 | c.590G= (p.Ser197=) | |
| 14 | g.28767869G>T | CA389475430 | FOXG1 | c.590G>T (p.Ser197Ile) | ClinVar dbSNP |
| 14 | g.28767870C>A | CA389475431 | FOXG1 | c.591C>A (p.Ser197Arg) | |
| 14 | g.28767870C= | CA2125999827 | FOXG1 | c.591C= (p.Ser197=) | |
| 14 | g.28767870C>G | CA389475432 | FOXG1 | c.591C>G (p.Ser197Arg) | |
| 14 | g.28767870C>T | CA486098633 | FOXG1 | c.591C>T (p.Ser197=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.28767873del | CA2739277844 | FOXG1 | c.594del (p.Glu199ArgfsTer14) | ClinVar |
| 14 | g.28767871_28767873del | CA2573053894 | FOXG1 | c.592_594del (p.Pro198del) | ClinVar dbSNP |
| 14 | g.28767871C>A | CA389475435 | FOXG1 | c.592C>A (p.Pro198Thr) | |
| 14 | g.28767871C>G | CA389475434 | FOXG1 | c.592C>G (p.Pro198Ala) | |
| 14 | g.28767871C>T | CA389475433 | FOXG1 | c.592C>T (p.Pro198Ser) | |
| 14 | g.28767872C>A | CA389475436 | FOXG1 | c.593C>A (p.Pro198His) | |
| 14 | g.28767872C>G | CA389475438 | FOXG1 | c.593C>G (p.Pro198Arg) | |
| 14 | g.28767872C>T | CA389475437 | FOXG1 | c.593C>T (p.Pro198Leu) | |
| 14 | g.28767873C>A | CA486098637 | FOXG1 | c.594C>A (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.28767873C= | CA2125999830 | FOXG1 | c.594C= (p.Pro198=) | |
| 14 | g.28767873C>G | CA314590 | FOXG1 | c.594C>G (p.Pro198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.28767873C>T | CA486098638 | FOXG1 | c.594C>T (p.Pro198=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.28767874G>A | CA389475439 | FOXG1 | c.595G>A (p.Glu199Lys) | |
| 14 | g.28767874G>C | CA389475440 | FOXG1 | c.595G>C (p.Glu199Gln) | |
| 14 | g.28767874G>T | CA389475441 | FOXG1 | c.595G>T (p.Glu199Ter) | |
| 14 | g.28767875A>C | CA389475442 | FOXG1 | c.596A>C (p.Glu199Ala) | |
| 14 | g.28767875A>G | CA389475443 | FOXG1 | c.596A>G (p.Glu199Gly) | |
| 14 | g.28767875A>T | CA389475444 | FOXG1 | c.596A>T (p.Glu199Val) | |
| 14 | g.28767876G>A | CA486098646 | FOXG1 | c.597G>A (p.Glu199=) | ClinVar |
| 14 | g.28767876G>C | CA389475445 | FOXG1 | c.597G>C (p.Glu199Asp) | |
| 14 | g.28767876G>T | CA389475446 | FOXG1 | c.597G>T (p.Glu199Asp) | |
| 14 | g.28767877A>C | CA389475447 | FOXG1 | c.598A>C (p.Lys200Gln) | |
| 14 | g.28767877A>G | CA389475448 | FOXG1 | c.598A>G (p.Lys200Glu) | |
| 14 | g.28767877A>T | CA389475449 | FOXG1 | c.598A>T (p.Lys200Ter) | |
| 14 | g.28767878A>C | CA389475452 | FOXG1 | c.599A>C (p.Lys200Thr) | |
| 14 | g.28767878A>G | CA389475450 | FOXG1 | c.599A>G (p.Lys200Arg) | |
| 14 | g.28767878A>T | CA389475451 | FOXG1 | c.599A>T (p.Lys200Met) | |
| 14 | g.28767879G>A | CA486098654 | FOXG1 | c.600G>A (p.Lys200=) | |
| 14 | g.28767879G>C | CA389475453 | FOXG1 | c.600G>C (p.Lys200Asn) | |
| 14 | g.28767879G>T | CA389475454 | FOXG1 | c.600G>T (p.Lys200Asn) | |
| 14 | g.28767880C>A | CA7140620 | FOXG1 | c.601C>A (p.Arg201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.28767880C= | CA2125999834 | FOXG1 | c.601C= (p.Arg201=) | |
| 14 | g.28767880C>G | CA389475455 | FOXG1 | c.601C>G (p.Arg201Gly) | dbSNP gnomAD v2 |
| 14 | g.28767880C>T | CA389475456 | FOXG1 | c.601C>T (p.Arg201Trp) | |
| 14 | g.28767881G>A | CA389475457 | FOXG1 | c.602G>A (p.Arg201Gln) | |
| 14 | g.28767881G>C | CA389475458 | FOXG1 | c.602G>C (p.Arg201Pro) | ClinVar dbSNP |
| 14 | g.28767881G>T | CA389475459 | FOXG1 | c.602G>T (p.Arg201Leu) | |
| 14 | g.28767882G>A | CA486098671 | FOXG1 | c.603G>A (p.Arg201=) | |
| 14 | g.28767882G>C | CA486098670 | FOXG1 | c.603G>C (p.Arg201=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.28767882G= | CA2125999839 | FOXG1 | c.603G= (p.Arg201=) | |
| 14 | g.28767882G>T | CA486098669 | FOXG1 | c.603G>T (p.Arg201=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.28767883C>A | CA389475460 | FOXG1 | c.604C>A (p.Leu202Ile) | |
| 14 | g.28767883C>G | CA389475461 | FOXG1 | c.604C>G (p.Leu202Val) | |
| 14 | g.28767883C>T | CA389475462 | FOXG1 | c.604C>T (p.Leu202Phe) | ClinVar |
| 14 | g.28767884T>A | CA389475465 | FOXG1 | c.605T>A (p.Leu202His) | |
| 14 | g.28767884T>C | CA389475464 | FOXG1 | c.605T>C (p.Leu202Pro) | |
| 14 | g.28767884T>G | CA389475463 | FOXG1 | c.605T>G (p.Leu202Arg) | |
| 14 | g.28767885C>A | CA486098683 | FOXG1 | c.606C>A (p.Leu202=) | |
| 14 | g.28767885C= | CA2125999843 | FOXG1 | c.606C= (p.Leu202=) | |
| 14 | g.28767885C>G | CA486098681 | FOXG1 | c.606C>G (p.Leu202=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.28767885C>T | CA258396576 | FOXG1 | c.606C>T (p.Leu202=) | ClinVar dbSNP |
| 14 | g.28767886A>C | CA389475466 | FOXG1 | c.607A>C (p.Thr203Pro) | |
| 14 | g.28767886A>G | CA389475467 | FOXG1 | c.607A>G (p.Thr203Ala) | |
| 14 | g.28767886A>T | CA389475468 | FOXG1 | c.607A>T (p.Thr203Ser) | |
| 14 | g.28767887C>A | CA389475469 | FOXG1 | c.608C>A (p.Thr203Lys) | |
| 14 | g.28767887C>G | CA389475470 | FOXG1 | c.608C>G (p.Thr203Arg) | |
| 14 | g.28767887C>T | CA389475471 | FOXG1 | c.608C>T (p.Thr203Met) | |
| 14 | g.28767888G>A | CA486098692 | FOXG1 | c.609G>A (p.Thr203=) | |
| 14 | g.28767888G>C | CA486098695 | FOXG1 | c.609G>C (p.Thr203=) | |
| 14 | g.28767888G>T | CA486098694 | FOXG1 | c.609G>T (p.Thr203=) | |
| 14 | g.28767888_28767892dup | CA2580088012 | FOXG1 | c.609_613dup (p.Asn205SerfsTer10) | ClinVar |
| 14 | g.28767890_28767897del | CA2573053895 | FOXG1 | c.611_618del (p.Leu204HisfsTer?) | ClinVar dbSNP |
| 14 | g.28767889C>A | CA389475472 | FOXG1 | c.610C>A (p.Leu204Ile) | |
| 14 | g.28767889C= | CA2125999846 | FOXG1 | c.610C= (p.Leu204=) | |
| 14 | g.28767889C>G | CA389475473 | FOXG1 | c.610C>G (p.Leu204Val) | |
| 14 | g.28767889C>T | CA235614 | FOXG1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
| 14 | g.28767890T>A | CA389475474 | FOXG1 | c.611T>A (p.Leu204His) | |
| 14 | g.28767890T>C | CA389475475 | FOXG1 | c.611T>C (p.Leu204Pro) | |
| 14 | g.28767890T>G | CA389475476 | FOXG1 | c.611T>G (p.Leu204Arg) | |
| 14 | g.28767891C>A | CA486098700 | FOXG1 | c.612C>A (p.Leu204=) | |
| 14 | g.28767891C>G | CA486098701 | FOXG1 | c.612C>G (p.Leu204=) | |
| 14 | g.28767891C>T | CA486098702 | FOXG1 | c.612C>T (p.Leu204=) | |
| 14 | g.28767892A>C | CA389475478 | FOXG1 | c.613A>C (p.Asn205His) | |
| 14 | g.28767892A>G | CA389475479 | FOXG1 | c.613A>G (p.Asn205Asp) | |
| 14 | g.28767892A>T | CA389475477 | FOXG1 | c.613A>T (p.Asn205Tyr) | |
| 14 | g.28767893A>C | CA389475480 | FOXG1 | c.614A>C (p.Asn205Thr) | |
| 14 | g.28767893A>G | CA389475481 | FOXG1 | c.614A>G (p.Asn205Ser) | gnomAD v4 |
| 14 | g.28767893A>T | CA389475482 | FOXG1 | c.614A>T (p.Asn205Ile) | |
| 14 | g.28767894C>A | CA389475483 | FOXG1 | c.615C>A (p.Asn205Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.28767894C= | CA2125999851 | FOXG1 | c.615C= (p.Asn205=) | |
| 14 | g.28767894C>G | CA389475484 | FOXG1 | c.615C>G (p.Asn205Lys) | |
| 14 | g.28767894C>T | CA486098713 | FOXG1 | c.615C>T (p.Asn205=) | dbSNP gnomAD v4 |
| 14 | g.28767895G>A | CA389475487 | FOXG1 | c.616G>A (p.Gly206Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.28767895G>C | CA389475485 | FOXG1 | c.616G>C (p.Gly206Arg) | |
| 14 | g.28767895G= | CA2125999853 | FOXG1 | c.616G= (p.Gly206=) | |
| 14 | g.28767895G>T | CA389475486 | FOXG1 | c.616G>T (p.Gly206Cys) | |
| 14 | g.28767896G>A | CA389475488 | FOXG1 | c.617G>A (p.Gly206Asp) | |
| 14 | g.28767896G>C | CA389475489 | FOXG1 | c.617G>C (p.Gly206Ala) | |
| 14 | g.28767896G>T | CA389475490 | FOXG1 | c.617G>T (p.Gly206Val) | ClinVar |
| 14 | g.28767897C>A | CA486098720 | FOXG1 | c.618C>A (p.Gly206=) | |
| 14 | g.28767897C= | CA2125999857 | FOXG1 | c.618C= (p.Gly206=) | |
| 14 | g.28767897C>G | CA486098723 | FOXG1 | c.618C>G (p.Gly206=) | |
| 14 | g.28767897C>T | CA258396577 | FOXG1 | c.618C>T (p.Gly206=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.28767898A>C | CA389475491 | FOXG1 | c.619A>C (p.Ile207Leu) | |
| 14 | g.28767898A>G | CA389475492 | FOXG1 | c.619A>G (p.Ile207Val) | |
| 14 | g.28767898A>T | CA389475493 | FOXG1 | c.619A>T (p.Ile207Phe) | ClinVar dbSNP |
| 14 | g.28767899T>A | CA389475495 | FOXG1 | c.620T>A (p.Ile207Asn) | |
| 14 | g.28767899T>C | CA389475496 | FOXG1 | c.620T>C (p.Ile207Thr) | ClinVar dbSNP |
| 14 | g.28767899T>G | CA389475494 | FOXG1 | c.620T>G (p.Ile207Ser) | |
| 14 | g.28767899T= | CA2125999862 | FOXG1 | c.620T= (p.Ile207=) | |
| 14 | g.28767900C>A | CA486098476 | FOXG1 | c.621C>A (p.Ile207=) | |
| 14 | g.28767900C= | CA2125999864 | FOXG1 | c.621C= (p.Ile207=) | |
| 14 | g.28767900C>G | CA389475497 | FOXG1 | c.621C>G (p.Ile207Met) | |
| 14 | g.28767900C>T | CA7140621 | FOXG1 | c.621C>T (p.Ile207=) | dbSNP ExAC gnomAD v2 |
| 14 | g.28767901T>A | CA389475498 | FOXG1 | c.622T>A (p.Tyr208Asn) | |
| 14 | g.28767901T>C | CA389475499 | FOXG1 | c.622T>C (p.Tyr208His) | ClinVar |
| 14 | g.28767901T>G | CA389475500 | FOXG1 | c.622T>G (p.Tyr208Asp) | |
| 14 | g.28767902A>C | CA389475501 | FOXG1 | c.623A>C (p.Tyr208Ser) | |
| 14 | g.28767902A>G | CA389475502 | FOXG1 | c.623A>G (p.Tyr208Cys) | |
| 14 | g.28767902A>T | CA389475503 | FOXG1 | c.623A>T (p.Tyr208Phe) | |
| 14 | g.28767903C>A | CA389475504 | FOXG1 | c.624C>A (p.Tyr208Ter) | ClinVar dbSNP |
| 14 | g.28767903C= | CA2125999869 | FOXG1 | c.624C= (p.Tyr208=) | |
| 14 | g.28767903C>G | CA123552 | FOXG1 | c.624C>G (p.Tyr208Ter) | ClinVar dbSNP |
| 14 | g.28767903C>T | CA7140622 | FOXG1 | c.624C>T (p.Tyr208=) | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.28767904G>A | CA389475505 | FOXG1 | c.625G>A (p.Glu209Lys) | COSMIC |
| 14 | g.28767904G>C | CA389475506 | FOXG1 | c.625G>C (p.Glu209Gln) | |
| 14 | g.28767904G>T | CA389475507 | FOXG1 | c.625G>T (p.Glu209Ter) | |
| 14 | g.28767905A>C | CA389475508 | FOXG1 | c.626A>C (p.Glu209Ala) | |
| 14 | g.28767905A>G | CA389475510 | FOXG1 | c.626A>G (p.Glu209Gly) | |
| 14 | g.28767905A>T | CA389475509 | FOXG1 | c.626A>T (p.Glu209Val) | COSMIC |
| 14 | g.28767906G>A | CA486098490 | FOXG1 | c.627G>A (p.Glu209=) | gnomAD v4 |
| 14 | g.28767906G>C | CA389475511 | FOXG1 | c.627G>C (p.Glu209Asp) | |
| 14 | g.28767906G>T | CA389475512 | FOXG1 | c.627G>T (p.Glu209Asp) | |
| 14 | g.28767907T>A | CA389475513 | FOXG1 | c.628T>A (p.Phe210Ile) | |
| 14 | g.28767907T>C | CA389475514 | FOXG1 | c.628T>C (p.Phe210Leu) | COSMIC |
| 14 | g.28767907T>G | CA389475515 | FOXG1 | c.628T>G (p.Phe210Val) | |
| 14 | g.28767908T>A | CA389475516 | FOXG1 | c.629T>A (p.Phe210Tyr) | |
| 14 | g.28767908T>C | CA389475517 | FOXG1 | c.629T>C (p.Phe210Ser) | |
| 14 | g.28767908T>G | CA389475518 | FOXG1 | c.629T>G (p.Phe210Cys) | |
| 14 | g.28767909C>A | CA389475519 | FOXG1 | c.630C>A (p.Phe210Leu) | |
| 14 | g.28767909C>G | CA389475520 | FOXG1 | c.630C>G (p.Phe210Leu) | |
| 14 | g.28767909C>T | CA486098501 | FOXG1 | c.630C>T (p.Phe210=) | gnomAD v4 |
| 14 | g.28767910A>C | CA389475522 | FOXG1 | c.631A>C (p.Ile211Leu) | |
| 14 | g.28767910A>G | CA389475523 | FOXG1 | c.631A>G (p.Ile211Val) | |
| 14 | g.28767910A>T | CA389475521 | FOXG1 | c.631A>T (p.Ile211Phe) | gnomAD v3 gnomAD v4 |
| 14 | g.28767911T>A | CA389475524 | FOXG1 | c.632T>A (p.Ile211Asn) | ClinVar dbSNP |
| 14 | g.28767911T>C | CA389475525 | FOXG1 | c.632T>C (p.Ile211Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.28767911T>G | CA389475526 | FOXG1 | c.632T>G (p.Ile211Ser) | |
| 14 | g.28767911T= | CA2125999874 | FOXG1 | c.632T= (p.Ile211=) | |
| 14 | g.28767912C>A | CA486098505 | FOXG1 | c.633C>A (p.Ile211=) | |
| 14 | g.28767912C>G | CA389475527 | FOXG1 | c.633C>G (p.Ile211Met) | |
| 14 | g.28767912C>T | CA486098507 | FOXG1 | c.633C>T (p.Ile211=) | gnomAD v4 |
| 14 | g.28767913del | CA2573053896 | FOXG1 | c.634del (p.Met212Ter) | ClinVar dbSNP |
| 14 | g.28767913A>C | CA389475528 | FOXG1 | c.634A>C (p.Met212Leu) | |
| 14 | g.28767913A>G | CA389475529 | FOXG1 | c.634A>G (p.Met212Val) | |
| 14 | g.28767913A>T | CA389475530 | FOXG1 | c.634A>T (p.Met212Leu) | |
| 14 | g.28767914_28767919del | CA2580088013 | FOXG1 | c.635_640del (p.Met212_Lys213del) | ClinVar |
| 14 | g.28767914T>A | CA389475531 | FOXG1 | c.635T>A (p.Met212Lys) | |
| 14 | g.28767914T>C | CA389475532 | FOXG1 | c.635T>C (p.Met212Thr) | ClinVar dbSNP |
| 14 | g.28767914T>G | CA389475533 | FOXG1 | c.635T>G (p.Met212Arg) | |
| 14 | g.28767915G>A | CA389475534 | FOXG1 | c.636G>A (p.Met212Ile) | |
| 14 | g.28767915G>C | CA389475535 | FOXG1 | c.636G>C (p.Met212Ile) | |
| 14 | g.28767915G>T | CA389475536 | FOXG1 | c.636G>T (p.Met212Ile) | |
| 14 | g.28767916A>C | CA389475539 | FOXG1 | c.637A>C (p.Lys213Gln) | |
| 14 | g.28767916A>G | CA389475538 | FOXG1 | c.637A>G (p.Lys213Glu) | |
| 14 | g.28767916A>T | CA389475537 | FOXG1 | c.637A>T (p.Lys213Ter) | ClinVar |
| 14 | g.28767917A>C | CA389475540 | FOXG1 | c.638A>C (p.Lys213Thr) | |
| 14 | g.28767917A>G | CA389475541 | FOXG1 | c.638A>G (p.Lys213Arg) | gnomAD v4 |
| 14 | g.28767917A>T | CA389475542 | FOXG1 | c.638A>T (p.Lys213Met) | gnomAD v3 gnomAD v4 |
| 14 | g.28767918G>A | CA486098517 | FOXG1 | c.639G>A (p.Lys213=) | ClinVar dbSNP COSMIC |
| 14 | g.28767918G>C | CA389475543 | FOXG1 | c.639G>C (p.Lys213Asn) | |
| 14 | g.28767918G= | CA2125999880 | FOXG1 | c.639G= (p.Lys213=) | |
| 14 | g.28767918G>T | CA389475544 | FOXG1 | c.639G>T (p.Lys213Asn) | |
| 14 | g.28767919A>C | CA389475545 | FOXG1 | c.640A>C (p.Asn214His) | |
| 14 | g.28767919A>G | CA389475546 | FOXG1 | c.640A>G (p.Asn214Asp) | |
| 14 | g.28767919A>T | CA389475547 | FOXG1 | c.640A>T (p.Asn214Tyr) | |
| 14 | g.28767920A>C | CA389475548 | FOXG1 | c.641A>C (p.Asn214Thr) | |
| 14 | g.28767920A>G | CA389475549 | FOXG1 | c.641A>G (p.Asn214Ser) | |
| 14 | g.28767920A>T | CA389475550 | FOXG1 | c.641A>T (p.Asn214Ile) | |
| 14 | g.28767921C>A | CA389475551 | FOXG1 | c.642C>A (p.Asn214Lys) | |
| 14 | g.28767921C= | CA2125999884 | FOXG1 | c.642C= (p.Asn214=) | |
| 14 | g.28767921C>G | CA389475552 | FOXG1 | c.642C>G (p.Asn214Lys) | |
| 14 | g.28767921C>T | CA486098521 | FOXG1 | c.642C>T (p.Asn214=) | ClinVar dbSNP |
| 14 | g.28767922T>A | CA389475554 | FOXG1 | c.643T>A (p.Phe215Ile) | ClinVar |
| 14 | g.28767922T>C | CA123554 | FOXG1 | c.643T>C (p.Phe215Leu) | ClinVar dbSNP |
| 14 | g.28767922T>G | CA389475553 | FOXG1 | c.643T>G (p.Phe215Val) | |
| 14 | g.28767922T= | CA2125999890 | FOXG1 | c.643T= (p.Phe215=) | |
| 14 | g.28767923T>A | CA389475555 | FOXG1 | c.644T>A (p.Phe215Tyr) | |
| 14 | g.28767923T>C | CA389475556 | FOXG1 | c.644T>C (p.Phe215Ser) | |
| 14 | g.28767923T>G | CA389475557 | FOXG1 | c.644T>G (p.Phe215Cys) | |
| 14 | g.28767923_28767924delinsCT | CA207940 | FOXG1 | c.644_645delinsCT (p.Phe215Ser) | ClinVar dbSNP |
| 14 | g.28767923_28767924delinsTC | CA2125999895 | FOXG1 | c.644_645delinsTC (p.Phe215=) | |
| 14 | g.28767924C>A | CA389475558 | FOXG1 | c.645C>A (p.Phe215Leu) | ClinVar dbSNP |
| 14 | g.28767924C= | CA2125999900 | FOXG1 | c.645C= (p.Phe215=) | |
| 14 | g.28767924C>G | CA16042954 | FOXG1 | c.645C>G (p.Phe215Leu) | ClinVar dbSNP |
| 14 | g.28767924C>T | CA486098527 | FOXG1 | c.645C>T (p.Phe215=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.28767926del | CA2695219194 | FOXG1 | c.647del (p.Pro216LeufsTer25) | |
| 14 | g.28767924_28767932delinsCCCTTACTA | CA2125999899 | FOXG1 | c.645_653delinsCCCTTACTA (p.Phe215=) | |
| 14 | g.28767925C>A | CA389475560 | FOXG1 | c.646C>A (p.Pro216Thr) | |
| 14 | g.28767925C= | CA2125999907 | FOXG1 | c.646C= (p.Pro216=) | |
| 14 | g.28767925C>G | CA389475559 | FOXG1 | c.646C>G (p.Pro216Ala) | |
| 14 | g.28767925C>T | CA7140623 | FOXG1 | c.646C>T (p.Pro216Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.28767927_28767934del | CA234033 | FOXG1 | c.648_655del (p.Tyr217ArgfsTer?) | ClinVar dbSNP |
| 14 | g.28767926C>A | CA389475561 | FOXG1 | c.647C>A (p.Pro216His) | |
| 14 | g.28767926C>G | CA389475562 | FOXG1 | c.647C>G (p.Pro216Arg) | |
| 14 | g.28767926C>T | CA389475563 | FOXG1 | c.647C>T (p.Pro216Leu) |