| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.42040151G>A | CA454533591 | GLI3 | c.915C>T (p.Asp305=) c.738C>T (p.Asp246=) n.892C>T c.912C>T (p.Asp304=) | gnomAD v4 |
| 7 | g.42040151G>C | CA367329644 | GLI3 | c.915C>G (p.Asp305Glu) c.738C>G (p.Asp246Glu) n.892C>G c.912C>G (p.Asp304Glu) | |
| 7 | g.42040151G>T | CA367329645 | GLI3 | c.915C>A (p.Asp305Glu) c.738C>A (p.Asp246Glu) n.892C>A c.912C>A (p.Asp304Glu) | |
| 7 | g.42040152T>A | CA367329648 | GLI3 | c.914A>T (p.Asp305Val) c.737A>T (p.Asp246Val) n.891A>T c.911A>T (p.Asp304Val) | |
| 7 | g.42040152T>C | CA367329647 | GLI3 | c.914A>G (p.Asp305Gly) c.737A>G (p.Asp246Gly) n.891A>G c.911A>G (p.Asp304Gly) | |
| 7 | g.42040152T>G | CA367329646 | GLI3 | c.914A>C (p.Asp305Ala) c.737A>C (p.Asp246Ala) n.891A>C c.911A>C (p.Asp304Ala) | |
| 7 | g.42040153C>A | CA367329649 | GLI3 | c.913G>T (p.Asp305Tyr) c.736G>T (p.Asp246Tyr) n.890G>T c.910G>T (p.Asp304Tyr) | |
| 7 | g.42040153C>G | CA367329651 | GLI3 | c.913G>C (p.Asp305His) c.736G>C (p.Asp246His) n.890G>C c.910G>C (p.Asp304His) | |
| 7 | g.42040153C>T | CA367329650 | GLI3 | c.913G>A (p.Asp305Asn) c.736G>A (p.Asp246Asn) n.890G>A c.910G>A (p.Asp304Asn) | |
| 7 | g.42040154A>C | CA367329652 | GLI3 | c.912T>G (p.Phe304Leu) c.735T>G (p.Phe245Leu) n.889T>G c.909T>G (p.Phe303Leu) | |
| 7 | g.42040154A>G | CA454533604 | GLI3 | c.912T>C (p.Phe304=) c.735T>C (p.Phe245=) n.889T>C c.909T>C (p.Phe303=) | |
| 7 | g.42040154A>T | CA367329653 | GLI3 | c.912T>A (p.Phe304Leu) c.735T>A (p.Phe245Leu) n.889T>A c.909T>A (p.Phe303Leu) | |
| 7 | g.42040155A>C | CA367329654 | GLI3 | c.911T>G (p.Phe304Cys) c.734T>G (p.Phe245Cys) n.888T>G c.908T>G (p.Phe303Cys) | COSMIC |
| 7 | g.42040155A>G | CA367329655 | GLI3 | c.911T>C (p.Phe304Ser) c.734T>C (p.Phe245Ser) n.888T>C c.908T>C (p.Phe303Ser) | |
| 7 | g.42040155A>T | CA367329656 | GLI3 | c.911T>A (p.Phe304Tyr) c.734T>A (p.Phe245Tyr) n.888T>A c.908T>A (p.Phe303Tyr) | |
| 7 | g.42040156A>C | CA367329657 | GLI3 | c.910T>G (p.Phe304Val) c.733T>G (p.Phe245Val) n.887T>G c.907T>G (p.Phe303Val) | |
| 7 | g.42040156A>G | CA367329658 | GLI3 | c.910T>C (p.Phe304Leu) c.733T>C (p.Phe245Leu) n.887T>C c.907T>C (p.Phe303Leu) | |
| 7 | g.42040156A>T | CA367329659 | GLI3 | c.910T>A (p.Phe304Ile) c.733T>A (p.Phe245Ile) n.887T>A c.907T>A (p.Phe303Ile) | |
| 7 | g.42040157G>A | CA454533621 | GLI3 | c.909C>T (p.Ser303=) c.732C>T (p.Ser244=) n.886C>T c.906C>T (p.Ser302=) | |
| 7 | g.42040157G>C | CA367329660 | GLI3 | c.909C>G (p.Ser303Arg) c.732C>G (p.Ser244Arg) n.886C>G c.906C>G (p.Ser302Arg) | |
| 7 | g.42040157G>T | CA367329661 | GLI3 | c.909C>A (p.Ser303Arg) c.732C>A (p.Ser244Arg) n.886C>A c.906C>A (p.Ser302Arg) | |
| 7 | g.42040158C>A | CA367329662 | GLI3 | c.908G>T (p.Ser303Ile) c.731G>T (p.Ser244Ile) n.885G>T c.905G>T (p.Ser302Ile) | |
| 7 | g.42040158C= | CA1702691254 | GLI3 | c.908G= (p.Ser303=) c.731G= (p.Ser244=) n.885G= c.905G= (p.Ser302=) | |
| 7 | g.42040158C>G | CA367329663 | GLI3 | c.908G>C (p.Ser303Thr) c.731G>C (p.Ser244Thr) n.885G>C c.905G>C (p.Ser302Thr) | |
| 7 | g.42040158C>T | CA4231020 | GLI3 | c.908G>A (p.Ser303Asn) c.731G>A (p.Ser244Asn) n.885G>A c.905G>A (p.Ser302Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040159T>A | CA367329664 | GLI3 | c.907A>T (p.Ser303Cys) c.730A>T (p.Ser244Cys) n.884A>T c.904A>T (p.Ser302Cys) | |
| 7 | g.42040159T>C | CA367329665 | GLI3 | c.907A>G (p.Ser303Gly) c.730A>G (p.Ser244Gly) n.884A>G c.904A>G (p.Ser302Gly) | |
| 7 | g.42040159T>G | CA367329666 | GLI3 | c.907A>C (p.Ser303Arg) c.730A>C (p.Ser244Arg) n.884A>C c.904A>C (p.Ser302Arg) | |
| 7 | g.42040160A= | CA1702691262 | GLI3 | c.906T= (p.His302=) c.729T= (p.His243=) n.883T= c.903T= (p.His301=) | |
| 7 | g.42040160A>C | CA367329667 | GLI3 | c.906T>G (p.His302Gln) c.729T>G (p.His243Gln) n.883T>G c.903T>G (p.His301Gln) | |
| 7 | g.42040160A>G | CA454533632 | GLI3 | c.906T>C (p.His302=) c.729T>C (p.His243=) n.883T>C c.903T>C (p.His301=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040160A>T | CA367329668 | GLI3 | c.906T>A (p.His302Gln) c.729T>A (p.His243Gln) n.883T>A c.903T>A (p.His301Gln) | |
| 7 | g.42040161T>A | CA367329669 | GLI3 | c.905A>T (p.His302Leu) c.728A>T (p.His243Leu) n.882A>T c.902A>T (p.His301Leu) | |
| 7 | g.42040161T>C | CA4231021 | GLI3 | c.905A>G (p.His302Arg) c.728A>G (p.His243Arg) n.882A>G c.902A>G (p.His301Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040161T>G | CA367329670 | GLI3 | c.905A>C (p.His302Pro) c.728A>C (p.His243Pro) n.882A>C c.902A>C (p.His301Pro) | |
| 7 | g.42040161T= | CA1702691264 | GLI3 | c.905A= (p.His302=) c.728A= (p.His243=) n.882A= c.902A= (p.His301=) | |
| 7 | g.42040162G>A | CA367329671 | GLI3 | c.904C>T (p.His302Tyr) c.727C>T (p.His243Tyr) n.881C>T c.901C>T (p.His301Tyr) | gnomAD v4 |
| 7 | g.42040162G>C | CA367329672 | GLI3 | c.904C>G (p.His302Asp) c.727C>G (p.His243Asp) n.881C>G c.901C>G (p.His301Asp) | |
| 7 | g.42040162G>T | CA367329673 | GLI3 | c.904C>A (p.His302Asn) c.727C>A (p.His243Asn) n.881C>A c.901C>A (p.His301Asn) | |
| 7 | g.42040163A= | CA1702691270 | GLI3 | c.903T= (p.Asp301=) c.726T= (p.Asp242=) n.880T= c.900T= (p.Asp300=) | |
| 7 | g.42040163A>C | CA367329674 | GLI3 | c.903T>G (p.Asp301Glu) c.726T>G (p.Asp242Glu) n.880T>G c.900T>G (p.Asp300Glu) | |
| 7 | g.42040163A>G | CA4231022 | GLI3 | c.903T>C (p.Asp301=) c.726T>C (p.Asp242=) n.880T>C c.900T>C (p.Asp300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040163A>T | CA367329675 | GLI3 | c.903T>A (p.Asp301Glu) c.726T>A (p.Asp242Glu) n.880T>A c.900T>A (p.Asp300Glu) | |
| 7 | g.42040164T>A | CA367329676 | GLI3 | c.902A>T (p.Asp301Val) c.725A>T (p.Asp242Val) n.879A>T c.899A>T (p.Asp300Val) | |
| 7 | g.42040164T>C | CA367329677 | GLI3 | c.902A>G (p.Asp301Gly) c.725A>G (p.Asp242Gly) n.879A>G c.899A>G (p.Asp300Gly) | |
| 7 | g.42040164T>G | CA367329678 | GLI3 | c.902A>C (p.Asp301Ala) c.725A>C (p.Asp242Ala) n.879A>C c.899A>C (p.Asp300Ala) | gnomAD v4 |
| 7 | g.42040165C>A | CA367329680 | GLI3 | c.901G>T (p.Asp301Tyr) c.724G>T (p.Asp242Tyr) n.878G>T c.898G>T (p.Asp300Tyr) | |
| 7 | g.42040165C= | CA1702691275 | GLI3 | c.901G= (p.Asp301=) c.724G= (p.Asp242=) n.878G= c.898G= (p.Asp300=) | |
| 7 | g.42040165C>G | CA367329679 | GLI3 | c.901G>C (p.Asp301His) c.724G>C (p.Asp242His) n.878G>C c.898G>C (p.Asp300His) | |
| 7 | g.42040165C>T | CA4231023 | GLI3 | c.901G>A (p.Asp301Asn) c.724G>A (p.Asp242Asn) n.878G>A c.898G>A (p.Asp300Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.42040166G>A | CA4231024 | GLI3 | c.900C>T (p.Ser300=) c.723C>T (p.Ser241=) n.877C>T c.897C>T (p.Ser299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040166G>C | CA454533651 | GLI3 | c.900C>G (p.Ser300=) c.723C>G (p.Ser241=) n.877C>G c.897C>G (p.Ser299=) | |
| 7 | g.42040166G= | CA1702691279 | GLI3 | c.900C= (p.Ser300=) c.723C= (p.Ser241=) n.877C= c.897C= (p.Ser299=) | |
| 7 | g.42040166G>T | CA454533653 | GLI3 | c.900C>A (p.Ser300=) c.723C>A (p.Ser241=) n.877C>A c.897C>A (p.Ser299=) | |
| 7 | g.42040167_42040169dup | CA2580077117 | GLI3 | c.898_900dup (p.Ser300_Asp301insSer) c.721_723dup (p.Ser241_Asp242insSer) n.875_877dup c.895_897dup (p.Ser299_Asp300insSer) | ClinVar |
| 7 | g.42040167G>A | CA367329681 | GLI3 | c.899C>T (p.Ser300Phe) c.722C>T (p.Ser241Phe) n.876C>T c.896C>T (p.Ser299Phe) | |
| 7 | g.42040167G>C | CA367329682 | GLI3 | c.899C>G (p.Ser300Cys) c.722C>G (p.Ser241Cys) n.876C>G c.896C>G (p.Ser299Cys) | |
| 7 | g.42040167G>T | CA367329683 | GLI3 | c.899C>A (p.Ser300Tyr) c.722C>A (p.Ser241Tyr) n.876C>A c.896C>A (p.Ser299Tyr) | gnomAD v4 |
| 7 | g.42040168A>C | CA367329684 | GLI3 | c.898T>G (p.Ser300Ala) c.721T>G (p.Ser241Ala) n.875T>G c.895T>G (p.Ser299Ala) | |
| 7 | g.42040168A>G | CA367329685 | GLI3 | c.898T>C (p.Ser300Pro) c.721T>C (p.Ser241Pro) n.875T>C c.895T>C (p.Ser299Pro) | gnomAD v4 |
| 7 | g.42040168A>T | CA367329686 | GLI3 | c.898T>A (p.Ser300Thr) c.721T>A (p.Ser241Thr) n.875T>A c.895T>A (p.Ser299Thr) | |
| 7 | g.42040169G>A | CA156907476 | GLI3 | c.897C>T (p.Leu299=) c.720C>T (p.Leu240=) n.874C>T c.894C>T (p.Leu298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040169G>C | CA454533666 | GLI3 | c.897C>G (p.Leu299=) c.720C>G (p.Leu240=) n.874C>G c.894C>G (p.Leu298=) | dbSNP |
| 7 | g.42040169G= | CA1702691284 | GLI3 | c.897C= (p.Leu299=) c.720C= (p.Leu240=) n.874C= c.894C= (p.Leu298=) | |
| 7 | g.42040169G>T | CA454533668 | GLI3 | c.897C>A (p.Leu299=) c.720C>A (p.Leu240=) n.874C>A c.894C>A (p.Leu298=) | |
| 7 | g.42040170A= | CA1702691289 | GLI3 | c.896T= (p.Leu299=) c.719T= (p.Leu240=) n.873T= c.893T= (p.Leu298=) | |
| 7 | g.42040170A>C | CA367329687 | GLI3 | c.896T>G (p.Leu299Arg) c.719T>G (p.Leu240Arg) n.873T>G c.893T>G (p.Leu298Arg) | |
| 7 | g.42040170A>G | CA367329688 | GLI3 | c.896T>C (p.Leu299Pro) c.719T>C (p.Leu240Pro) n.873T>C c.893T>C (p.Leu298Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040170A>T | CA367329689 | GLI3 | c.896T>A (p.Leu299His) c.719T>A (p.Leu240His) n.873T>A c.893T>A (p.Leu298His) | |
| 7 | g.42040171G>A | CA367329690 | GLI3 | c.895C>T (p.Leu299Phe) c.718C>T (p.Leu240Phe) n.872C>T c.892C>T (p.Leu298Phe) | |
| 7 | g.42040171G>C | CA367329691 | GLI3 | c.895C>G (p.Leu299Val) c.718C>G (p.Leu240Val) n.872C>G c.892C>G (p.Leu298Val) | |
| 7 | g.42040171G>T | CA367329692 | GLI3 | c.895C>A (p.Leu299Ile) c.718C>A (p.Leu240Ile) n.872C>A c.892C>A (p.Leu298Ile) | |
| 7 | g.42040172T>A | CA454533675 | GLI3 | c.894A>T (p.Pro298=) c.717A>T (p.Pro239=) n.871A>T c.891A>T (p.Pro297=) | |
| 7 | g.42040172T>C | CA454533676 | GLI3 | c.894A>G (p.Pro298=) c.717A>G (p.Pro239=) n.871A>G c.891A>G (p.Pro297=) | |
| 7 | g.42040172T>G | CA4231025 | GLI3 | c.894A>C (p.Pro298=) c.717A>C (p.Pro239=) n.871A>C c.891A>C (p.Pro297=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040172T= | CA1702691296 | GLI3 | c.894A= (p.Pro298=) c.717A= (p.Pro239=) n.871A= c.891A= (p.Pro297=) | |
| 7 | g.42040173G>A | CA367329695 | GLI3 | c.893C>T (p.Pro298Leu) c.716C>T (p.Pro239Leu) n.870C>T c.890C>T (p.Pro297Leu) | gnomAD v4 |
| 7 | g.42040173G>C | CA367329693 | GLI3 | c.893C>G (p.Pro298Arg) c.716C>G (p.Pro239Arg) n.870C>G c.890C>G (p.Pro297Arg) | |
| 7 | g.42040173G>T | CA367329694 | GLI3 | c.893C>A (p.Pro298Gln) c.716C>A (p.Pro239Gln) n.870C>A c.890C>A (p.Pro297Gln) | |
| 7 | g.42040174G>A | CA367329696 | GLI3 | c.892C>T (p.Pro298Ser) c.715C>T (p.Pro239Ser) n.869C>T c.889C>T (p.Pro297Ser) | |
| 7 | g.42040174G>C | CA367329697 | GLI3 | c.892C>G (p.Pro298Ala) c.715C>G (p.Pro239Ala) n.869C>G c.889C>G (p.Pro297Ala) | |
| 7 | g.42040174G>T | CA367329698 | GLI3 | c.892C>A (p.Pro298Thr) c.715C>A (p.Pro239Thr) n.869C>A c.889C>A (p.Pro297Thr) | |
| 7 | g.42040175T>A | CA454533683 | GLI3 | c.891A>T (p.Ser297=) c.714A>T (p.Ser238=) n.868A>T c.888A>T (p.Ser296=) | |
| 7 | g.42040175T>C | CA454533684 | GLI3 | c.891A>G (p.Ser297=) c.714A>G (p.Ser238=) n.868A>G c.888A>G (p.Ser296=) | gnomAD v4 |
| 7 | g.42040175T>G | CA454533686 | GLI3 | c.891A>C (p.Ser297=) c.714A>C (p.Ser238=) n.868A>C c.888A>C (p.Ser296=) | |
| 7 | g.42040176G>A | CA367329699 | GLI3 | c.890C>T (p.Ser297Leu) c.713C>T (p.Ser238Leu) n.867C>T c.887C>T (p.Ser296Leu) | |
| 7 | g.42040176G>C | CA367329700 | GLI3 | c.890C>G (p.Ser297Ter) c.713C>G (p.Ser238Ter) n.867C>G c.887C>G (p.Ser296Ter) | |
| 7 | g.42040176G>T | CA367329701 | GLI3 | c.890C>A (p.Ser297Ter) c.713C>A (p.Ser238Ter) n.867C>A c.887C>A (p.Ser296Ter) | |
| 7 | g.42040177A= | CA1702691301 | GLI3 | c.889T= (p.Ser297=) c.712T= (p.Ser238=) n.866T= c.886T= (p.Ser296=) | |
| 7 | g.42040177A>C | CA367329702 | GLI3 | c.889T>G (p.Ser297Ala) c.712T>G (p.Ser238Ala) n.866T>G c.886T>G (p.Ser296Ala) | |
| 7 | g.42040177A>G | CA367329703 | GLI3 | c.889T>C (p.Ser297Pro) c.712T>C (p.Ser238Pro) n.866T>C c.886T>C (p.Ser296Pro) | |
| 7 | g.42040177A>T | CA367329704 | GLI3 | c.889T>A (p.Ser297Thr) c.712T>A (p.Ser238Thr) n.866T>A c.886T>A (p.Ser296Thr) | dbSNP gnomAD v4 |
| 7 | g.42040178T>A | CA454533694 | GLI3 | c.888A>T (p.Ile296=) c.711A>T (p.Ile237=) n.865A>T c.885A>T (p.Ile295=) | |
| 7 | g.42040178T>C | CA367329705 | GLI3 | c.888A>G (p.Ile296Met) c.711A>G (p.Ile237Met) n.865A>G c.885A>G (p.Ile295Met) | gnomAD v4 |
| 7 | g.42040178T>G | CA454533697 | GLI3 | c.888A>C (p.Ile296=) c.711A>C (p.Ile237=) n.865A>C c.885A>C (p.Ile295=) | |
| 7 | g.42040179A>C | CA367329706 | GLI3 | c.887T>G (p.Ile296Arg) c.710T>G (p.Ile237Arg) n.864T>G c.884T>G (p.Ile295Arg) | |
| 7 | g.42040179A>G | CA367329707 | GLI3 | c.887T>C (p.Ile296Thr) c.710T>C (p.Ile237Thr) n.864T>C c.884T>C (p.Ile295Thr) | |
| 7 | g.42040179A>T | CA367329708 | GLI3 | c.887T>A (p.Ile296Lys) c.710T>A (p.Ile237Lys) n.864T>A c.884T>A (p.Ile295Lys) | |
| 7 | g.42040180T>A | CA367329709 | GLI3 | c.886A>T (p.Ile296Leu) c.709A>T (p.Ile237Leu) n.863A>T c.883A>T (p.Ile295Leu) | |
| 7 | g.42040180T>C | CA367329710 | GLI3 | c.886A>G (p.Ile296Val) c.709A>G (p.Ile237Val) n.863A>G c.883A>G (p.Ile295Val) | dbSNP gnomAD v4 |
| 7 | g.42040180T>G | CA4231026 | GLI3 | c.886A>C (p.Ile296Leu) c.709A>C (p.Ile237Leu) n.863A>C c.883A>C (p.Ile295Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040180T= | CA1702691309 | GLI3 | c.886A= (p.Ile296=) c.709A= (p.Ile237=) n.863A= c.883A= (p.Ile295=) | |
| 7 | g.42040180_42040181delinsTG | CA1702691312 | GLI3 | c.885_886delinsCA (p.Ser295=) c.708_709delinsCA (p.Ser236=) n.862_863delinsCA c.882_883delinsCA (p.Ser294=) | |
| 7 | g.42040181G>A | CA454533705 | GLI3 | c.885C>T (p.Ser295=) c.708C>T (p.Ser236=) n.862C>T c.882C>T (p.Ser294=) | gnomAD v4 |
| 7 | g.42040181G>C | CA454533707 | GLI3 | c.885C>G (p.Ser295=) c.708C>G (p.Ser236=) n.862C>G c.882C>G (p.Ser294=) | |
| 7 | g.42040181G>T | CA454533709 | GLI3 | c.885C>A (p.Ser295=) c.708C>A (p.Ser236=) n.862C>A c.882C>A (p.Ser294=) | |
| 7 | g.42040182del | CA916082926 | GLI3 | c.885del (p.Ile296TyrfsTer14) c.708del (p.Ile237TyrfsTer14) n.862del c.882del (p.Ile295TyrfsTer14) | ClinVar dbSNP |
| 7 | g.42040182G>A | CA367329711 | GLI3 | c.884C>T (p.Ser295Phe) c.707C>T (p.Ser236Phe) n.861C>T c.881C>T (p.Ser294Phe) | |
| 7 | g.42040182G>C | CA367329713 | GLI3 | c.884C>G (p.Ser295Cys) c.707C>G (p.Ser236Cys) n.861C>G c.881C>G (p.Ser294Cys) | |
| 7 | g.42040182G>T | CA367329712 | GLI3 | c.884C>A (p.Ser295Tyr) c.707C>A (p.Ser236Tyr) n.861C>A c.881C>A (p.Ser294Tyr) | |
| 7 | g.42040183A= | CA1702691323 | GLI3 | c.883T= (p.Ser295=) c.706T= (p.Ser236=) n.860T= c.880T= (p.Ser294=) | |
| 7 | g.42040183A>C | CA367329714 | GLI3 | c.883T>G (p.Ser295Ala) c.706T>G (p.Ser236Ala) n.860T>G c.880T>G (p.Ser294Ala) | |
| 7 | g.42040183A>G | CA4231027 | GLI3 | c.883T>C (p.Ser295Pro) c.706T>C (p.Ser236Pro) n.860T>C c.880T>C (p.Ser294Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040183A>T | CA367329715 | GLI3 | c.883T>A (p.Ser295Thr) c.706T>A (p.Ser236Thr) n.860T>A c.880T>A (p.Ser294Thr) | |
| 7 | g.42040184C>A | CA454533720 | GLI3 | c.882G>T (p.Leu294=) c.705G>T (p.Leu235=) n.859G>T c.879G>T (p.Leu293=) | COSMIC |
| 7 | g.42040184C>G | CA454533722 | GLI3 | c.882G>C (p.Leu294=) c.705G>C (p.Leu235=) n.859G>C c.879G>C (p.Leu293=) | gnomAD v4 |
| 7 | g.42040184C>T | CA454533717 | GLI3 | c.882G>A (p.Leu294=) c.705G>A (p.Leu235=) n.859G>A c.879G>A (p.Leu293=) | |
| 7 | g.42040184_42040189delinsCAGTGT | CA1702691326 | GLI3 | c.877_882delinsACACTG (p.Thr293=) c.700_705delinsACACTG (p.Thr234=) n.854_859delinsACACTG c.874_879delinsACACTG (p.Thr292=) | |
| 7 | g.42040185A>C | CA367329716 | GLI3 | c.881T>G (p.Leu294Arg) c.704T>G (p.Leu235Arg) n.858T>G c.878T>G (p.Leu293Arg) | |
| 7 | g.42040185A>G | CA367329717 | GLI3 | c.881T>C (p.Leu294Pro) c.704T>C (p.Leu235Pro) n.858T>C c.878T>C (p.Leu293Pro) | |
| 7 | g.42040185A>T | CA367329718 | GLI3 | c.881T>A (p.Leu294Gln) c.704T>A (p.Leu235Gln) n.858T>A c.878T>A (p.Leu293Gln) | |
| 7 | g.42040186_42040190del | CA916082927 | GLI3 | c.877_881del (p.Thr293ValfsTer9) c.700_704del (p.Thr234ValfsTer9) n.854_858del c.874_878del (p.Thr292ValfsTer9) | ClinVar dbSNP |
| 7 | g.42040186G>A | CA454533727 | GLI3 | c.880C>T (p.Leu294=) c.703C>T (p.Leu235=) n.857C>T c.877C>T (p.Leu293=) | dbSNP |
| 7 | g.42040186G>C | CA367329719 | GLI3 | c.880C>G (p.Leu294Val) c.703C>G (p.Leu235Val) n.857C>G c.877C>G (p.Leu293Val) | |
| 7 | g.42040186G= | CA1702691334 | GLI3 | c.880C= (p.Leu294=) c.703C= (p.Leu235=) n.857C= c.877C= (p.Leu293=) | |
| 7 | g.42040186G>T | CA367329720 | GLI3 | c.880C>A (p.Leu294Met) c.703C>A (p.Leu235Met) n.857C>A c.877C>A (p.Leu293Met) | |
| 7 | g.42040187T>A | CA454533734 | GLI3 | c.879A>T (p.Thr293=) c.702A>T (p.Thr234=) n.856A>T c.876A>T (p.Thr292=) | |
| 7 | g.42040187T>C | CA454533730 | GLI3 | c.879A>G (p.Thr293=) c.702A>G (p.Thr234=) n.856A>G c.876A>G (p.Thr292=) | gnomAD v4 |
| 7 | g.42040187T>G | CA454533732 | GLI3 | c.879A>C (p.Thr293=) c.702A>C (p.Thr234=) n.856A>C c.876A>C (p.Thr292=) | |
| 7 | g.42040188G>A | CA367329721 | GLI3 | c.878C>T (p.Thr293Ile) c.701C>T (p.Thr234Ile) n.855C>T c.875C>T (p.Thr292Ile) | |
| 7 | g.42040188G>C | CA367329722 | GLI3 | c.878C>G (p.Thr293Arg) c.701C>G (p.Thr234Arg) n.855C>G c.875C>G (p.Thr292Arg) | |
| 7 | g.42040188G>T | CA367329723 | GLI3 | c.878C>A (p.Thr293Lys) c.701C>A (p.Thr234Lys) n.855C>A c.875C>A (p.Thr292Lys) | |
| 7 | g.42040189T>A | CA367329726 | GLI3 | c.877A>T (p.Thr293Ser) c.700A>T (p.Thr234Ser) n.854A>T c.874A>T (p.Thr292Ser) | |
| 7 | g.42040189T>C | CA367329724 | GLI3 | c.877A>G (p.Thr293Ala) c.700A>G (p.Thr234Ala) n.854A>G c.874A>G (p.Thr292Ala) | gnomAD v4 |
| 7 | g.42040189T>G | CA367329725 | GLI3 | c.877A>C (p.Thr293Pro) c.700A>C (p.Thr234Pro) n.854A>C c.874A>C (p.Thr292Pro) | |
| 7 | g.42040190A= | CA1702691337 | GLI3 | c.876T= (p.Arg292=) c.699T= (p.Arg233=) n.853T= c.873T= (p.Arg291=) | |
| 7 | g.42040190A>C | CA454533736 | GLI3 | c.876T>G (p.Arg292=) c.699T>G (p.Arg233=) n.853T>G c.873T>G (p.Arg291=) | |
| 7 | g.42040190A>G | CA454533738 | GLI3 | c.876T>C (p.Arg292=) c.699T>C (p.Arg233=) n.853T>C c.873T>C (p.Arg291=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040190A>T | CA454533737 | GLI3 | c.876T>A (p.Arg292=) c.699T>A (p.Arg233=) n.853T>A c.873T>A (p.Arg291=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040191C>A | CA367329727 | GLI3 | c.875G>T (p.Arg292Leu) c.698G>T (p.Arg233Leu) n.852G>T c.872G>T (p.Arg291Leu) | |
| 7 | g.42040191C= | CA1702691344 | GLI3 | c.875G= (p.Arg292=) c.698G= (p.Arg233=) n.852G= c.872G= (p.Arg291=) | |
| 7 | g.42040191C>G | CA367329728 | GLI3 | c.875G>C (p.Arg292Pro) c.698G>C (p.Arg233Pro) n.852G>C c.872G>C (p.Arg291Pro) | |
| 7 | g.42040191C>T | CA4231028 | GLI3 | c.875G>A (p.Arg292His) c.698G>A (p.Arg233His) n.852G>A c.872G>A (p.Arg291His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040192G>A | CA367329729 | GLI3 | c.874C>T (p.Arg292Cys) c.697C>T (p.Arg233Cys) n.851C>T c.871C>T (p.Arg291Cys) | dbSNP gnomAD v4 |
| 7 | g.42040192G>C | CA367329730 | GLI3 | c.874C>G (p.Arg292Gly) c.697C>G (p.Arg233Gly) n.851C>G c.871C>G (p.Arg291Gly) | |
| 7 | g.42040192G= | CA1702691349 | GLI3 | c.874C= (p.Arg292=) c.697C= (p.Arg233=) n.851C= c.871C= (p.Arg291=) | |
| 7 | g.42040192G>T | CA367329731 | GLI3 | c.874C>A (p.Arg292Ser) c.697C>A (p.Arg233Ser) n.851C>A c.871C>A (p.Arg291Ser) | |
| 7 | g.42040193T>A | CA367329732 | GLI3 | c.873A>T (p.Lys291Asn) c.696A>T (p.Lys232Asn) n.850A>T c.870A>T (p.Lys290Asn) | |
| 7 | g.42040193T>C | CA454533746 | GLI3 | c.873A>G (p.Lys291=) c.696A>G (p.Lys232=) n.850A>G c.870A>G (p.Lys290=) | dbSNP |
| 7 | g.42040193T>G | CA367329733 | GLI3 | c.873A>C (p.Lys291Asn) c.696A>C (p.Lys232Asn) n.850A>C c.870A>C (p.Lys290Asn) | |
| 7 | g.42040196del | CA2682511709 | GLI3 | c.873del (p.Lys291AsnfsTer19) c.696del (p.Lys232AsnfsTer19) n.850del c.870del (p.Lys290AsnfsTer19) | gnomAD v4 |
| 7 | g.42040194T>A | CA367329734 | GLI3 | c.872A>T (p.Lys291Ile) c.695A>T (p.Lys232Ile) n.849A>T c.869A>T (p.Lys290Ile) | |
| 7 | g.42040194T>C | CA367329735 | GLI3 | c.872A>G (p.Lys291Arg) c.695A>G (p.Lys232Arg) n.849A>G c.869A>G (p.Lys290Arg) | |
| 7 | g.42040194T>G | CA367329736 | GLI3 | c.872A>C (p.Lys291Thr) c.695A>C (p.Lys232Thr) n.849A>C c.869A>C (p.Lys290Thr) | |
| 7 | g.42040195T>A | CA367329738 | GLI3 | c.871A>T (p.Lys291Ter) c.694A>T (p.Lys232Ter) n.848A>T c.868A>T (p.Lys290Ter) | |
| 7 | g.42040195T>C | CA367329739 | GLI3 | c.871A>G (p.Lys291Glu) c.694A>G (p.Lys232Glu) n.848A>G c.868A>G (p.Lys290Glu) | |
| 7 | g.42040195T>G | CA367329737 | GLI3 | c.871A>C (p.Lys291Gln) c.694A>C (p.Lys232Gln) n.848A>C c.868A>C (p.Lys290Gln) | |
| 7 | g.42040196T>A | CA454533766 | GLI3 | c.870A>T (p.Arg290=) c.693A>T (p.Arg231=) n.847A>T c.867A>T (p.Arg289=) | |
| 7 | g.42040196T>C | CA454533767 | GLI3 | c.870A>G (p.Arg290=) c.693A>G (p.Arg231=) n.847A>G c.867A>G (p.Arg289=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040196T>G | CA454533769 | GLI3 | c.870A>C (p.Arg290=) c.693A>C (p.Arg231=) n.847A>C c.867A>C (p.Arg289=) | |
| 7 | g.42040196T= | CA1702691353 | GLI3 | c.870A= (p.Arg290=) c.693A= (p.Arg231=) n.847A= c.867A= (p.Arg289=) | |
| 7 | g.42040197C>A | CA367329740 | GLI3 | c.869G>T (p.Arg290Leu) c.692G>T (p.Arg231Leu) n.846G>T c.866G>T (p.Arg289Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040197C= | CA1702691356 | GLI3 | c.869G= (p.Arg290=) c.692G= (p.Arg231=) n.846G= c.866G= (p.Arg289=) | |
| 7 | g.42040197C>G | CA367329741 | GLI3 | c.869G>C (p.Arg290Pro) c.692G>C (p.Arg231Pro) n.846G>C c.866G>C (p.Arg289Pro) | |
| 7 | g.42040197C>T | CA4231029 | GLI3 | c.869G>A (p.Arg290Gln) c.692G>A (p.Arg231Gln) n.846G>A c.866G>A (p.Arg289Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040198G>A | CA123498 | GLI3 | c.868C>T (p.Arg290Ter) c.691C>T (p.Arg231Ter) n.845C>T c.865C>T (p.Arg289Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.42040198G>C | CA367329742 | GLI3 | c.868C>G (p.Arg290Gly) c.691C>G (p.Arg231Gly) n.845C>G c.865C>G (p.Arg289Gly) | |
| 7 | g.42040198G= | CA1702691364 | GLI3 | c.868C= (p.Arg290=) c.691C= (p.Arg231=) n.845C= c.865C= (p.Arg289=) | |
| 7 | g.42040198G>T | CA454533780 | GLI3 | c.868C>A (p.Arg290=) c.691C>A (p.Arg231=) n.845C>A c.865C>A (p.Arg289=) | COSMIC |
| 7 | g.42040199G>A | CA454533782 | GLI3 | c.867C>T (p.Ser289=) c.690C>T (p.Ser230=) n.844C>T c.864C>T (p.Ser288=) | |
| 7 | g.42040199G>C | CA367329743 | GLI3 | c.867C>G (p.Ser289Arg) c.690C>G (p.Ser230Arg) n.844C>G c.864C>G (p.Ser288Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040199G= | CA1702691367 | GLI3 | c.867C= (p.Ser289=) c.690C= (p.Ser230=) n.844C= c.864C= (p.Ser288=) | |
| 7 | g.42040199G>T | CA367329744 | GLI3 | c.867C>A (p.Ser289Arg) c.690C>A (p.Ser230Arg) n.844C>A c.864C>A (p.Ser288Arg) | |
| 7 | g.42040200C>A | CA367329745 | GLI3 | c.866G>T (p.Ser289Ile) c.689G>T (p.Ser230Ile) n.843G>T c.863G>T (p.Ser288Ile) | |
| 7 | g.42040200C>G | CA367329746 | GLI3 | c.866G>C (p.Ser289Thr) c.689G>C (p.Ser230Thr) n.843G>C c.863G>C (p.Ser288Thr) | |
| 7 | g.42040200C>T | CA367329747 | GLI3 | c.866G>A (p.Ser289Asn) c.689G>A (p.Ser230Asn) n.843G>A c.863G>A (p.Ser288Asn) | gnomAD v4 |
| 7 | g.42040201T>A | CA367329748 | GLI3 | c.865A>T (p.Ser289Cys) c.688A>T (p.Ser230Cys) n.842A>T c.862A>T (p.Ser288Cys) | |
| 7 | g.42040201T>C | CA367329749 | GLI3 | c.865A>G (p.Ser289Gly) c.688A>G (p.Ser230Gly) n.842A>G c.862A>G (p.Ser288Gly) | |
| 7 | g.42040201T>G | CA367329750 | GLI3 | c.865A>C (p.Ser289Arg) c.688A>C (p.Ser230Arg) n.842A>C c.862A>C (p.Ser288Arg) | |
| 7 | g.42040202C>A | CA4231031 | GLI3 | c.864G>T (p.Pro288=) c.687G>T (p.Pro229=) n.841G>T c.861G>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040202C= | CA1702691381 | GLI3 | c.864G= (p.Pro288=) c.687G= (p.Pro229=) n.841G= c.861G= (p.Pro287=) | |
| 7 | g.42040202C>G | CA454533794 | GLI3 | c.864G>C (p.Pro288=) c.687G>C (p.Pro229=) n.841G>C c.861G>C (p.Pro287=) | dbSNP |
| 7 | g.42040202C>T | CA4231030 | GLI3 | c.864G>A (p.Pro288=) c.687G>A (p.Pro229=) n.841G>A c.861G>A (p.Pro287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040203G>A | CA4231032 | GLI3 | c.863C>T (p.Pro288Leu) c.686C>T (p.Pro229Leu) n.840C>T c.860C>T (p.Pro287Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040203G>C | CA367329751 | GLI3 | c.863C>G (p.Pro288Arg) c.686C>G (p.Pro229Arg) n.840C>G c.860C>G (p.Pro287Arg) | gnomAD v4 |
| 7 | g.42040203G= | CA1702691384 | GLI3 | c.863C= (p.Pro288=) c.686C= (p.Pro229=) n.840C= c.860C= (p.Pro287=) | |
| 7 | g.42040203G>T | CA367329752 | GLI3 | c.863C>A (p.Pro288Gln) c.686C>A (p.Pro229Gln) n.840C>A c.860C>A (p.Pro287Gln) | |
| 7 | g.42040204G>A | CA367329753 | GLI3 | c.862C>T (p.Pro288Ser) c.685C>T (p.Pro229Ser) n.839C>T c.859C>T (p.Pro287Ser) | gnomAD v4 |
| 7 | g.42040204G>C | CA367329754 | GLI3 | c.862C>G (p.Pro288Ala) c.685C>G (p.Pro229Ala) n.839C>G c.859C>G (p.Pro287Ala) | |
| 7 | g.42040204G>T | CA367329755 | GLI3 | c.862C>A (p.Pro288Thr) c.685C>A (p.Pro229Thr) n.839C>A c.859C>A (p.Pro287Thr) | gnomAD v4 |
| 7 | g.42040205C>A | CA4231033 | GLI3 | c.861G>T (p.Arg287Ser) c.684G>T (p.Arg228Ser) n.838G>T c.858G>T (p.Arg286Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040205C= | CA1702691394 | GLI3 | c.861G= (p.Arg287=) c.684G= (p.Arg228=) n.838G= c.858G= (p.Arg286=) | |
| 7 | g.42040205C>G | CA367329756 | GLI3 | c.861G>C (p.Arg287Ser) c.684G>C (p.Arg228Ser) n.838G>C c.858G>C (p.Arg286Ser) | |
| 7 | g.42040205C>T | CA454533805 | GLI3 | c.861G>A (p.Arg287=) c.684G>A (p.Arg228=) n.838G>A c.858G>A (p.Arg286=) | |
| 7 | g.42040206C>A | CA367329757 | GLI3 | c.860G>T (p.Arg287Met) c.683G>T (p.Arg228Met) n.837G>T c.857G>T (p.Arg286Met) | |
| 7 | g.42040206C>G | CA367329758 | GLI3 | c.860G>C (p.Arg287Thr) c.683G>C (p.Arg228Thr) n.837G>C c.857G>C (p.Arg286Thr) | |
| 7 | g.42040206C>T | CA367329759 | GLI3 | c.860G>A (p.Arg287Lys) c.683G>A (p.Arg228Lys) n.837G>A c.857G>A (p.Arg286Lys) | |
| 7 | g.42040207T>A | CA367329760 | GLI3 | c.859A>T (p.Arg287Trp) c.682A>T (p.Arg228Trp) n.836A>T c.856A>T (p.Arg286Trp) | gnomAD v4 |
| 7 | g.42040207T>C | CA367329761 | GLI3 | c.859A>G (p.Arg287Gly) c.682A>G (p.Arg228Gly) n.836A>G c.856A>G (p.Arg286Gly) | |
| 7 | g.42040207T>G | CA454533816 | GLI3 | c.859A>C (p.Arg287=) c.682A>C (p.Arg228=) n.836A>C c.856A>C (p.Arg286=) | |
| 7 | g.42040208G>A | CA454533820 | GLI3 | c.858C>T (p.Ala286=) c.681C>T (p.Ala227=) n.835C>T c.855C>T (p.Ala285=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040208G>C | CA454533824 | GLI3 | c.858C>G (p.Ala286=) c.681C>G (p.Ala227=) n.835C>G c.855C>G (p.Ala285=) | |
| 7 | g.42040208G= | CA1702691401 | GLI3 | c.858C= (p.Ala286=) c.681C= (p.Ala227=) n.835C= c.855C= (p.Ala285=) | |
| 7 | g.42040208G>T | CA454533821 | GLI3 | c.858C>A (p.Ala286=) c.681C>A (p.Ala227=) n.835C>A c.855C>A (p.Ala285=) | |
| 7 | g.42040209G>A | CA367329762 | GLI3 | c.857C>T (p.Ala286Val) c.680C>T (p.Ala227Val) n.834C>T c.854C>T (p.Ala285Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040209G>C | CA367329764 | GLI3 | c.857C>G (p.Ala286Gly) c.680C>G (p.Ala227Gly) n.834C>G c.854C>G (p.Ala285Gly) | |
| 7 | g.42040209G= | CA1702691408 | GLI3 | c.857C= (p.Ala286=) c.680C= (p.Ala227=) n.834C= c.854C= (p.Ala285=) | |
| 7 | g.42040209G>T | CA367329763 | GLI3 | c.857C>A (p.Ala286Asp) c.680C>A (p.Ala227Asp) n.834C>A c.854C>A (p.Ala285Asp) | |
| 7 | g.42040210C>A | CA367329765 | GLI3 | c.856G>T (p.Ala286Ser) c.679G>T (p.Ala227Ser) n.833G>T c.853G>T (p.Ala285Ser) | |
| 7 | g.42040210C>G | CA367329766 | GLI3 | c.856G>C (p.Ala286Pro) c.679G>C (p.Ala227Pro) n.833G>C c.853G>C (p.Ala285Pro) | gnomAD v4 |
| 7 | g.42040210C>T | CA367329767 | GLI3 | c.856G>A (p.Ala286Thr) c.679G>A (p.Ala227Thr) n.833G>A c.853G>A (p.Ala285Thr) | |
| 7 | g.42040211T>A | CA454533835 | GLI3 | c.855A>T (p.Ser285=) c.678A>T (p.Ser226=) n.832A>T c.852A>T (p.Ser284=) | |
| 7 | g.42040211T>C | CA454533836 | GLI3 | c.855A>G (p.Ser285=) c.678A>G (p.Ser226=) n.832A>G c.852A>G (p.Ser284=) | |
| 7 | g.42040211T>G | CA454533839 | GLI3 | c.855A>C (p.Ser285=) c.678A>C (p.Ser226=) n.832A>C c.852A>C (p.Ser284=) | |
| 7 | g.42040212G>A | CA4231034 | GLI3 | c.854C>T (p.Ser285Leu) c.677C>T (p.Ser226Leu) n.831C>T c.851C>T (p.Ser284Leu) | dbSNP ExAC gnomAD v2 |
| 7 | g.42040212G>C | CA367329768 | GLI3 | c.854C>G (p.Ser285Ter) c.677C>G (p.Ser226Ter) n.831C>G c.851C>G (p.Ser284Ter) | |
| 7 | g.42040212G= | CA1702691416 | GLI3 | c.854C= (p.Ser285=) c.677C= (p.Ser226=) n.831C= c.851C= (p.Ser284=) | |
| 7 | g.42040212G>T | CA367329769 | GLI3 | c.854C>A (p.Ser285Ter) c.677C>A (p.Ser226Ter) n.831C>A c.851C>A (p.Ser284Ter) | |
| 7 | g.42040213A>C | CA367329770 | GLI3 | c.853T>G (p.Ser285Ala) c.676T>G (p.Ser226Ala) n.830T>G c.850T>G (p.Ser284Ala) | |
| 7 | g.42040213A>G | CA367329771 | GLI3 | c.853T>C (p.Ser285Pro) c.676T>C (p.Ser226Pro) n.830T>C c.850T>C (p.Ser284Pro) | |
| 7 | g.42040213A>T | CA367329772 | GLI3 | c.853T>A (p.Ser285Thr) c.676T>A (p.Ser226Thr) n.830T>A c.850T>A (p.Ser284Thr) | gnomAD v4 |
| 7 | g.42040214C>A | CA454533848 | GLI3 | c.852G>T (p.Leu284=) c.675G>T (p.Leu225=) n.829G>T c.849G>T (p.Leu283=) | |
| 7 | g.42040214C>G | CA454533851 | GLI3 | c.852G>C (p.Leu284=) c.675G>C (p.Leu225=) n.829G>C c.849G>C (p.Leu283=) | |
| 7 | g.42040214C>T | CA454533849 | GLI3 | c.852G>A (p.Leu284=) c.675G>A (p.Leu225=) n.829G>A c.849G>A (p.Leu283=) | gnomAD v4 |
| 7 | g.42040215A>C | CA367329773 | GLI3 | c.851T>G (p.Leu284Arg) c.674T>G (p.Leu225Arg) n.828T>G c.848T>G (p.Leu283Arg) | |
| 7 | g.42040215A>G | CA367329774 | GLI3 | c.851T>C (p.Leu284Pro) c.674T>C (p.Leu225Pro) n.828T>C c.848T>C (p.Leu283Pro) | |
| 7 | g.42040215A>T | CA367329775 | GLI3 | c.851T>A (p.Leu284Gln) c.674T>A (p.Leu225Gln) n.828T>A c.848T>A (p.Leu283Gln) | |
| 7 | g.42040216G>A | CA454533863 | GLI3 | c.850C>T (p.Leu284=) c.673C>T (p.Leu225=) n.827C>T c.847C>T (p.Leu283=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040216G>C | CA367329776 | GLI3 | c.850C>G (p.Leu284Val) c.673C>G (p.Leu225Val) n.827C>G c.847C>G (p.Leu283Val) | |
| 7 | g.42040216G= | CA1702691422 | GLI3 | c.850C= (p.Leu284=) c.673C= (p.Leu225=) n.827C= c.847C= (p.Leu283=) | |
| 7 | g.42040216G>T | CA367329777 | GLI3 | c.850C>A (p.Leu284Met) c.673C>A (p.Leu225Met) n.827C>A c.847C>A (p.Leu283Met) | |
| 7 | g.42040217C>A | CA367329779 | GLI3 | c.849G>T (p.Arg283Ser) c.672G>T (p.Arg224Ser) n.826G>T c.846G>T (p.Arg282Ser) | |
| 7 | g.42040217C>G | CA367329778 | GLI3 | c.849G>C (p.Arg283Ser) c.672G>C (p.Arg224Ser) n.826G>C c.846G>C (p.Arg282Ser) | |
| 7 | g.42040217C>T | CA454533870 | GLI3 | c.849G>A (p.Arg283=) c.672G>A (p.Arg224=) n.826G>A c.846G>A (p.Arg282=) | |
| 7 | g.42040218C>A | CA367329780 | GLI3 | c.848G>T (p.Arg283Met) c.671G>T (p.Arg224Met) n.825G>T c.845G>T (p.Arg282Met) | |
| 7 | g.42040218C>G | CA367329781 | GLI3 | c.848G>C (p.Arg283Thr) c.671G>C (p.Arg224Thr) n.825G>C c.845G>C (p.Arg282Thr) | |
| 7 | g.42040218C>T | CA367329782 | GLI3 | c.848G>A (p.Arg283Lys) c.671G>A (p.Arg224Lys) n.825G>A c.845G>A (p.Arg282Lys) | gnomAD v4 |
| 7 | g.42040219T>A | CA4231035 | GLI3 | c.847A>T (p.Arg283Trp) c.670A>T (p.Arg224Trp) n.824A>T c.844A>T (p.Arg282Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040219T>C | CA367329783 | GLI3 | c.847A>G (p.Arg283Gly) c.670A>G (p.Arg224Gly) n.824A>G c.844A>G (p.Arg282Gly) | |
| 7 | g.42040219T>G | CA454533877 | GLI3 | c.847A>C (p.Arg283=) c.670A>C (p.Arg224=) n.824A>C c.844A>C (p.Arg282=) | |
| 7 | g.42040219T= | CA1702691429 | GLI3 | c.847A= (p.Arg283=) c.670A= (p.Arg224=) n.824A= c.844A= (p.Arg282=) | |
| 7 | g.42040220G>A | CA4231036 | GLI3 | c.846C>T (p.Pro282=) c.669C>T (p.Pro223=) n.823C>T c.843C>T (p.Pro281=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040220G>C | CA454533878 | GLI3 | c.846C>G (p.Pro282=) c.669C>G (p.Pro223=) n.823C>G c.843C>G (p.Pro281=) | |
| 7 | g.42040220G= | CA1702691435 | GLI3 | c.846C= (p.Pro282=) c.669C= (p.Pro223=) n.823C= c.843C= (p.Pro281=) | |
| 7 | g.42040220G>T | CA454533879 | GLI3 | c.846C>A (p.Pro282=) c.669C>A (p.Pro223=) n.823C>A c.843C>A (p.Pro281=) | |
| 7 | g.42040221G>A | CA367329786 | GLI3 | c.845C>T (p.Pro282Leu) c.668C>T (p.Pro223Leu) n.822C>T c.842C>T (p.Pro281Leu) | dbSNP gnomAD v4 |
| 7 | g.42040221G>C | CA367329784 | GLI3 | c.845C>G (p.Pro282Arg) c.668C>G (p.Pro223Arg) n.822C>G c.842C>G (p.Pro281Arg) | |
| 7 | g.42040221G= | CA1702691442 | GLI3 | c.845C= (p.Pro282=) c.668C= (p.Pro223=) n.822C= c.842C= (p.Pro281=) | |
| 7 | g.42040221G>T | CA367329785 | GLI3 | c.845C>A (p.Pro282His) c.668C>A (p.Pro223His) n.822C>A c.842C>A (p.Pro281His) | |
| 7 | g.42040222G>A | CA4231037 | GLI3 | c.844C>T (p.Pro282Ser) c.667C>T (p.Pro223Ser) n.821C>T c.841C>T (p.Pro281Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040222G>C | CA367329787 | GLI3 | c.844C>G (p.Pro282Ala) c.667C>G (p.Pro223Ala) n.821C>G c.841C>G (p.Pro281Ala) | |
| 7 | g.42040222G= | CA1702691449 | GLI3 | c.844C= (p.Pro282=) c.667C= (p.Pro223=) n.821C= c.841C= (p.Pro281=) | |
| 7 | g.42040222G>T | CA4231038 | GLI3 | c.844C>A (p.Pro282Thr) c.667C>A (p.Pro223Thr) n.821C>A c.841C>A (p.Pro281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.42040223G>A | CA454533889 | GLI3 | c.843C>T (p.Ser281=) c.666C>T (p.Ser222=) n.820C>T c.840C>T (p.Ser280=) | |
| 7 | g.42040223G>C | CA367329788 | GLI3 | c.843C>G (p.Ser281Arg) c.666C>G (p.Ser222Arg) n.820C>G c.840C>G (p.Ser280Arg) | |
| 7 | g.42040223G>T | CA367329789 | GLI3 | c.843C>A (p.Ser281Arg) c.666C>A (p.Ser222Arg) n.820C>A c.840C>A (p.Ser280Arg) | |
| 7 | g.42040223_42040233del | CA2695207671 | GLI3 | c.833_843del (p.Arg278ThrfsTer22) c.656_666del (p.Arg219ThrfsTer22) n.810_820del c.830_840del (p.Arg277ThrfsTer22) | |
| 7 | g.42040224C>A | CA367329792 | GLI3 | c.842G>T (p.Ser281Ile) c.665G>T (p.Ser222Ile) n.819G>T c.839G>T (p.Ser280Ile) | |
| 7 | g.42040224C>G | CA367329790 | GLI3 | c.842G>C (p.Ser281Thr) c.665G>C (p.Ser222Thr) n.819G>C c.839G>C (p.Ser280Thr) | |
| 7 | g.42040224C>T | CA367329791 | GLI3 | c.842G>A (p.Ser281Asn) c.665G>A (p.Ser222Asn) n.819G>A c.839G>A (p.Ser280Asn) | |
| 7 | g.42040225T>A | CA367329793 | GLI3 | c.841A>T (p.Ser281Cys) c.664A>T (p.Ser222Cys) n.818A>T c.838A>T (p.Ser280Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040225T>C | CA367329794 | GLI3 | c.841A>G (p.Ser281Gly) c.664A>G (p.Ser222Gly) n.818A>G c.838A>G (p.Ser280Gly) | |
| 7 | g.42040225T>G | CA367329795 | GLI3 | c.841A>C (p.Ser281Arg) c.664A>C (p.Ser222Arg) n.818A>C c.838A>C (p.Ser280Arg) | |
| 7 | g.42040225T= | CA1702691456 | GLI3 | c.841A= (p.Ser281=) c.664A= (p.Ser222=) n.818A= c.838A= (p.Ser280=) | |
| 7 | g.42040226G>A | CA454533899 | GLI3 | c.840C>T (p.Ser280=) c.663C>T (p.Ser221=) n.817C>T c.837C>T (p.Ser279=) | |
| 7 | g.42040226G>C | CA4231039 | GLI3 | c.840C>G (p.Ser280=) c.663C>G (p.Ser221=) n.817C>G c.837C>G (p.Ser279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.42040226G= | CA1702691463 | GLI3 | c.840C= (p.Ser280=) c.663C= (p.Ser221=) n.817C= c.837C= (p.Ser279=) | |
| 7 | g.42040226G>T | CA454533903 | GLI3 | c.840C>A (p.Ser280=) c.663C>A (p.Ser221=) n.817C>A c.837C>A (p.Ser279=) | dbSNP |
| 7 | g.42040227G>A | CA367329796 | GLI3 | c.839C>T (p.Ser280Phe) c.662C>T (p.Ser221Phe) n.816C>T c.836C>T (p.Ser279Phe) | gnomAD v4 |
| 7 | g.42040227G>C | CA367329797 | GLI3 | c.839C>G (p.Ser280Cys) c.662C>G (p.Ser221Cys) n.816C>G c.836C>G (p.Ser279Cys) | |
| 7 | g.42040227G>T | CA367329798 | GLI3 | c.839C>A (p.Ser280Tyr) c.662C>A (p.Ser221Tyr) n.816C>A c.836C>A (p.Ser279Tyr) | |
| 7 | g.42040228A>C | CA367329799 | GLI3 | c.838T>G (p.Ser280Ala) c.661T>G (p.Ser221Ala) n.815T>G c.835T>G (p.Ser279Ala) | |
| 7 | g.42040228A>G | CA367329800 | GLI3 | c.838T>C (p.Ser280Pro) c.661T>C (p.Ser221Pro) n.815T>C c.835T>C (p.Ser279Pro) | dbSNP |
| 7 | g.42040228A>T | CA367329801 | GLI3 | c.838T>A (p.Ser280Thr) c.661T>A (p.Ser221Thr) n.815T>A c.835T>A (p.Ser279Thr) | |
| 7 | g.42040229G>A | CA454533915 | GLI3 | c.837C>T (p.Phe279=) c.660C>T (p.Phe220=) n.814C>T c.834C>T (p.Phe278=) | gnomAD v4 |
| 7 | g.42040229G>C | CA367329802 | GLI3 | c.837C>G (p.Phe279Leu) c.660C>G (p.Phe220Leu) n.814C>G c.834C>G (p.Phe278Leu) | |
| 7 | g.42040229G>T | CA367329803 | GLI3 | c.837C>A (p.Phe279Leu) c.660C>A (p.Phe220Leu) n.814C>A c.834C>A (p.Phe278Leu) | ClinVar |
| 7 | g.42040230A>C | CA367329806 | GLI3 | c.836T>G (p.Phe279Cys) c.659T>G (p.Phe220Cys) n.813T>G c.833T>G (p.Phe278Cys) | |
| 7 | g.42040230A>G | CA367329805 | GLI3 | c.836T>C (p.Phe279Ser) c.659T>C (p.Phe220Ser) n.813T>C c.833T>C (p.Phe278Ser) | |
| 7 | g.42040230A>T | CA367329804 | GLI3 | c.836T>A (p.Phe279Tyr) c.659T>A (p.Phe220Tyr) n.813T>A c.833T>A (p.Phe278Tyr) | |
| 7 | g.42040231dup | CA2580077118 | GLI3 | c.836dup (p.Ser280LeufsTer24) c.659dup (p.Ser221LeufsTer24) n.813dup c.833dup (p.Ser279LeufsTer24) | ClinVar |
| 7 | g.42040231A>C | CA367329807 | GLI3 | c.835T>G (p.Phe279Val) c.658T>G (p.Phe220Val) n.812T>G c.832T>G (p.Phe278Val) | |
| 7 | g.42040231A>G | CA367329808 | GLI3 | c.835T>C (p.Phe279Leu) c.658T>C (p.Phe220Leu) n.812T>C c.832T>C (p.Phe278Leu) | gnomAD v4 |
| 7 | g.42040231A>T | CA367329809 | GLI3 | c.835T>A (p.Phe279Ile) c.658T>A (p.Phe220Ile) n.812T>A c.832T>A (p.Phe278Ile) | |
| 7 | g.42040232T>A | CA367329810 | GLI3 | c.834A>T (p.Arg278Ser) c.657A>T (p.Arg219Ser) n.811A>T c.831A>T (p.Arg277Ser) | |
| 7 | g.42040232T>C | CA454533926 | GLI3 | c.834A>G (p.Arg278=) c.657A>G (p.Arg219=) n.811A>G c.831A>G (p.Arg277=) | gnomAD v4 |
| 7 | g.42040232T>G | CA367329811 | GLI3 | c.834A>C (p.Arg278Ser) c.657A>C (p.Arg219Ser) n.811A>C c.831A>C (p.Arg277Ser) | |
| 7 | g.42040233C>A | CA367329812 | GLI3 | c.833G>T (p.Arg278Ile) c.656G>T (p.Arg219Ile) n.810G>T c.830G>T (p.Arg277Ile) | |
| 7 | g.42040233C>G | CA367329813 | GLI3 | c.833G>C (p.Arg278Thr) c.656G>C (p.Arg219Thr) n.810G>C c.830G>C (p.Arg277Thr) | |
| 7 | g.42040233C>T | CA367329814 | GLI3 | c.833G>A (p.Arg278Lys) c.656G>A (p.Arg219Lys) n.810G>A c.830G>A (p.Arg277Lys) | |
| 7 | g.42040234T>A | CA367329815 | GLI3 | c.832A>T (p.Arg278Ter) c.655A>T (p.Arg219Ter) n.809A>T c.829A>T (p.Arg277Ter) | |
| 7 | g.42040234T>C | CA367329816 | GLI3 | c.832A>G (p.Arg278Gly) c.655A>G (p.Arg219Gly) n.809A>G c.829A>G (p.Arg277Gly) | gnomAD v4 |
| 7 | g.42040234T>G | CA454533933 | GLI3 | c.832A>C (p.Arg278=) c.655A>C (p.Arg219=) n.809A>C c.829A>C (p.Arg277=) | |
| 7 | g.42040235G>A | CA454533936 | GLI3 | c.831C>T (p.Thr277=) c.654C>T (p.Thr218=) n.808C>T c.828C>T (p.Thr276=) | gnomAD v4 |
| 7 | g.42040235G>C | CA454533938 | GLI3 | c.831C>G (p.Thr277=) c.654C>G (p.Thr218=) n.808C>G c.828C>G (p.Thr276=) | |
| 7 | g.42040235G>T | CA454533939 | GLI3 | c.831C>A (p.Thr277=) c.654C>A (p.Thr218=) n.808C>A c.828C>A (p.Thr276=) | |
| 7 | g.42040236G>A | CA367329817 | GLI3 | c.830C>T (p.Thr277Ile) c.653C>T (p.Thr218Ile) n.807C>T c.827C>T (p.Thr276Ile) | |
| 7 | g.42040236G>C | CA367329818 | GLI3 | c.830C>G (p.Thr277Ser) c.653C>G (p.Thr218Ser) n.807C>G c.827C>G (p.Thr276Ser) | gnomAD v4 |
| 7 | g.42040236G>T | CA367329819 | GLI3 | c.830C>A (p.Thr277Asn) c.653C>A (p.Thr218Asn) n.807C>A c.827C>A (p.Thr276Asn) | |
| 7 | g.42040237T>A | CA367329821 | GLI3 | c.829A>T (p.Thr277Ser) c.652A>T (p.Thr218Ser) n.806A>T c.826A>T (p.Thr276Ser) | |
| 7 | g.42040237T>C | CA367329822 | GLI3 | c.829A>G (p.Thr277Ala) c.652A>G (p.Thr218Ala) n.806A>G c.826A>G (p.Thr276Ala) | |
| 7 | g.42040237T>G | CA367329820 | GLI3 | c.829A>C (p.Thr277Pro) c.652A>C (p.Thr218Pro) n.806A>C c.826A>C (p.Thr276Pro) | |
| 7 | g.42040238G>A | CA454533954 | GLI3 | c.828C>T (p.Ser276=) c.651C>T (p.Ser217=) n.805C>T c.825C>T (p.Ser275=) | gnomAD v4 |
| 7 | g.42040238G>C | CA367329823 | GLI3 | c.828C>G (p.Ser276Arg) c.651C>G (p.Ser217Arg) n.805C>G c.825C>G (p.Ser275Arg) | |
| 7 | g.42040238G>T | CA367329824 | GLI3 | c.828C>A (p.Ser276Arg) c.651C>A (p.Ser217Arg) n.805C>A c.825C>A (p.Ser275Arg) | |
| 7 | g.42040239C>A | CA367329825 | GLI3 | c.827G>T (p.Ser276Ile) c.650G>T (p.Ser217Ile) n.804G>T c.824G>T (p.Ser275Ile) | |
| 7 | g.42040239C= | CA1702691475 | GLI3 | c.827G= (p.Ser276=) c.650G= (p.Ser217=) n.804G= c.824G= (p.Ser275=) | |
| 7 | g.42040239C>G | CA367329826 | GLI3 | c.827G>C (p.Ser276Thr) c.650G>C (p.Ser217Thr) n.804G>C c.824G>C (p.Ser275Thr) | dbSNP |
| 7 | g.42040239C>T | CA367329827 | GLI3 | c.827G>A (p.Ser276Asn) c.650G>A (p.Ser217Asn) n.804G>A c.824G>A (p.Ser275Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040240C>A | CA367329828 | GLI3 | c.827-1G>T (n.827-1G>T) c.650-1G>T (n.650-1G>T) n.804-1G>T c.824-1G>T (n.824-1G>T) | |
| 7 | g.42040240C>G | CA367329829 | GLI3 | c.827-1G>C (n.827-1G>C) c.650-1G>C (n.650-1G>C) n.804-1G>C c.824-1G>C (n.824-1G>C) | |
| 7 | g.42040240C>T | CA367329830 | GLI3 | c.827-1G>A (n.827-1G>A) c.650-1G>A (n.650-1G>A) n.804-1G>A c.824-1G>A (n.824-1G>A) | |
| 7 | g.42040241T>A | CA367329831 | GLI3 | c.827-2A>T (n.827-2A>T) c.650-2A>T (n.650-2A>T) n.804-2A>T c.824-2A>T (n.824-2A>T) | |
| 7 | g.42040241T>C | CA367329832 | GLI3 | c.827-2A>G (n.827-2A>G) c.650-2A>G (n.650-2A>G) n.804-2A>G c.824-2A>G (n.824-2A>G) | ClinVar dbSNP |
| 7 | g.42040241T>G | CA367329833 | GLI3 | c.827-2A>C (n.827-2A>C) c.650-2A>C (n.650-2A>C) n.804-2A>C c.824-2A>C (n.824-2A>C) | |
| 7 | g.42040241_42040242delinsTG | CA1702691479 | GLI3 | c.827-3_827-2delinsCA (n.827-3_827-2delinsCA) c.650-3_650-2delinsCA (n.650-3_650-2delinsCA) n.804-3_804-2delinsCA c.824-3_824-2delinsCA (n.824-3_824-2delinsCA) | |
| 7 | g.42040242del | CA573908185 | GLI3 | c.827-3del (n.827-3del) c.650-3del (n.650-3del) n.804-3del c.824-3del (n.824-3del) | dbSNP gnomAD v2 |
| 7 | g.42040242G>A | CA2682511711 | GLI3 | c.827-3C>T (n.827-3C>T) c.650-3C>T (n.650-3C>T) n.804-3C>T c.824-3C>T (n.824-3C>T) | gnomAD v4 |
| 7 | g.42040242G>C | CA2695207672 | GLI3 | c.827-3C>G (n.827-3C>G) c.650-3C>G (n.650-3C>G) n.804-3C>G c.824-3C>G (n.824-3C>G) | |
| 7 | g.42040242G>T | CA2682511710 | GLI3 | c.827-3C>A (n.827-3C>A) c.650-3C>A (n.650-3C>A) n.804-3C>A c.824-3C>A (n.824-3C>A) | gnomAD v4 |
| 7 | g.42040243T>A | CA2682511712 | GLI3 | c.827-4A>T (n.827-4A>T) c.650-4A>T (n.650-4A>T) n.804-4A>T c.824-4A>T (n.824-4A>T) | gnomAD v4 |
| 7 | g.42040243T>G | CA2682511713 | GLI3 | c.827-4A>C (n.827-4A>C) c.650-4A>C (n.650-4A>C) n.804-4A>C c.824-4A>C (n.824-4A>C) | gnomAD v4 |
| 7 | g.42040248_42040249del | CA2578874155 | GLI3 | c.827-6_827-5del (n.827-6_827-5del) c.650-6_650-5del (n.650-6_650-5del) n.804-6_804-5del c.824-6_824-5del (n.824-6_824-5del) | gnomAD v4 |
| 7 | g.42040245A= | CA1702691488 | GLI3 | c.827-6T= (n.827-6T=) c.650-6T= (n.650-6T=) n.804-6T= c.824-6T= (n.824-6T=) | |
| 7 | g.42040245A>G | CA10629116 | GLI3 | c.827-6T>C (n.827-6T>C) c.650-6T>C (n.650-6T>C) n.804-6T>C c.824-6T>C (n.824-6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.42040246T>C | CA573908186 | GLI3 | c.827-7A>G (n.827-7A>G) c.650-7A>G (n.650-7A>G) n.804-7A>G c.824-7A>G (n.824-7A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040246T= | CA1702691491 | GLI3 | c.827-7A= (n.827-7A=) c.650-7A= (n.650-7A=) n.804-7A= c.824-7A= (n.824-7A=) | |
| 7 | g.42040247A= | CA1702691494 | GLI3 | c.827-8T= (n.827-8T=) c.650-8T= (n.650-8T=) n.804-8T= c.824-8T= (n.824-8T=) | |
| 7 | g.42040247A>G | CA573908187 | GLI3 | c.827-8T>C (n.827-8T>C) c.650-8T>C (n.650-8T>C) n.804-8T>C c.824-8T>C (n.824-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.42040248T>C | CA838573042 | GLI3 | c.827-9A>G (n.827-9A>G) c.650-9A>G (n.650-9A>G) n.804-9A>G c.824-9A>G (n.824-9A>G) | dbSNP gnomAD v4 |
| 7 | g.42040248T= | CA1702691496 | GLI3 | c.827-9A= (n.827-9A=) c.650-9A= (n.650-9A=) n.804-9A= c.824-9A= (n.824-9A=) | |
| 7 | g.42040249A= | CA1702691498 | GLI3 | c.827-10T= (n.827-10T=) c.650-10T= (n.650-10T=) n.804-10T= c.824-10T= (n.824-10T=) | |
| 7 | g.42040249A>C | CA2682511714 | GLI3 | c.827-10T>G (n.827-10T>G) c.650-10T>G (n.650-10T>G) n.804-10T>G c.824-10T>G (n.824-10T>G) | gnomAD v4 |
| 7 | g.42040249A>G | CA4231040 | GLI3 | c.827-10T>C (n.827-10T>C) c.650-10T>C (n.650-10T>C) n.804-10T>C c.824-10T>C (n.824-10T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.42040249A>T | CA2682511715 | GLI3 | c.827-10T>A (n.827-10T>A) c.650-10T>A (n.650-10T>A) n.804-10T>A c.824-10T>A (n.824-10T>A) | gnomAD v4 |