UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144403930G>A | CA348714576 | ZEB2 | c.*642C>T (n.*642C>T) c.16C>T (p.Pro6Ser) c.793C>T (p.Pro265Ser) n.762C>T c.457C>T (p.Pro153Ser) c.*510C>T (n.*510C>T) n.893C>T c.-133-5080C>T (n.-133-5080C>T) c.790C>T (p.Pro264Ser) c.877C>T (p.Pro293Ser) c.532C>T (p.Pro178Ser) c.880C>T (p.Pro294Ser) c.778C>T (p.Pro260Ser) c.721C>T (p.Pro241Ser) c.784C>T (p.Pro262Ser) c.772C>T (p.Pro258Ser) | |
| 2 | g.144403930G>C | CA348714578 | ZEB2 | c.*642C>G (n.*642C>G) c.16C>G (p.Pro6Ala) c.793C>G (p.Pro265Ala) n.762C>G c.457C>G (p.Pro153Ala) c.*510C>G (n.*510C>G) n.893C>G c.-133-5080C>G (n.-133-5080C>G) c.790C>G (p.Pro264Ala) c.877C>G (p.Pro293Ala) c.532C>G (p.Pro178Ala) c.880C>G (p.Pro294Ala) c.778C>G (p.Pro260Ala) c.721C>G (p.Pro241Ala) c.784C>G (p.Pro262Ala) c.772C>G (p.Pro258Ala) | |
| 2 | g.144403930G>T | CA348714577 | ZEB2 | c.*642C>A (n.*642C>A) c.16C>A (p.Pro6Thr) c.793C>A (p.Pro265Thr) n.762C>A c.457C>A (p.Pro153Thr) c.*510C>A (n.*510C>A) n.893C>A c.-133-5080C>A (n.-133-5080C>A) c.790C>A (p.Pro264Thr) c.877C>A (p.Pro293Thr) c.532C>A (p.Pro178Thr) c.880C>A (p.Pro294Thr) c.778C>A (p.Pro260Thr) c.721C>A (p.Pro241Thr) c.784C>A (p.Pro262Thr) c.772C>A (p.Pro258Thr) | |
| 2 | g.144403931C>A | CA348714579 | ZEB2 | c.*641G>T (n.*641G>T) c.15G>T (p.Lys5Asn) c.792G>T (p.Lys264Asn) n.761G>T c.456G>T (p.Lys152Asn) c.*509G>T (n.*509G>T) n.892G>T c.-133-5081G>T (n.-133-5081G>T) c.789G>T (p.Lys263Asn) c.876G>T (p.Lys292Asn) c.531G>T (p.Lys177Asn) c.879G>T (p.Lys293Asn) c.777G>T (p.Lys259Asn) c.720G>T (p.Lys240Asn) c.783G>T (p.Lys261Asn) c.771G>T (p.Lys257Asn) | |
| 2 | g.144403931C>G | CA348714580 | ZEB2 | c.*641G>C (n.*641G>C) c.15G>C (p.Lys5Asn) c.792G>C (p.Lys264Asn) n.761G>C c.456G>C (p.Lys152Asn) c.*509G>C (n.*509G>C) n.892G>C c.-133-5081G>C (n.-133-5081G>C) c.789G>C (p.Lys263Asn) c.876G>C (p.Lys292Asn) c.531G>C (p.Lys177Asn) c.879G>C (p.Lys293Asn) c.777G>C (p.Lys259Asn) c.720G>C (p.Lys240Asn) c.783G>C (p.Lys261Asn) c.771G>C (p.Lys257Asn) | |
| 2 | g.144403931C>T | CA429218444 | ZEB2 | c.*641G>A (n.*641G>A) c.15G>A (p.Lys5=) c.792G>A (p.Lys264=) n.761G>A c.456G>A (p.Lys152=) c.*509G>A (n.*509G>A) n.892G>A c.-133-5081G>A (n.-133-5081G>A) c.789G>A (p.Lys263=) c.876G>A (p.Lys292=) c.531G>A (p.Lys177=) c.879G>A (p.Lys293=) c.777G>A (p.Lys259=) c.720G>A (p.Lys240=) c.783G>A (p.Lys261=) c.771G>A (p.Lys257=) | gnomAD v4 |
| 2 | g.144403932T>A | CA348714581 | ZEB2 | c.*640A>T (n.*640A>T) c.14A>T (p.Lys5Met) c.791A>T (p.Lys264Met) n.760A>T c.455A>T (p.Lys152Met) c.*508A>T (n.*508A>T) n.891A>T c.-133-5082A>T (n.-133-5082A>T) c.788A>T (p.Lys263Met) c.875A>T (p.Lys292Met) c.530A>T (p.Lys177Met) c.878A>T (p.Lys293Met) c.776A>T (p.Lys259Met) c.719A>T (p.Lys240Met) c.782A>T (p.Lys261Met) c.770A>T (p.Lys257Met) | |
| 2 | g.144403932T>C | CA348714582 | ZEB2 | c.*640A>G (n.*640A>G) c.14A>G (p.Lys5Arg) c.791A>G (p.Lys264Arg) n.760A>G c.455A>G (p.Lys152Arg) c.*508A>G (n.*508A>G) n.891A>G c.-133-5082A>G (n.-133-5082A>G) c.788A>G (p.Lys263Arg) c.875A>G (p.Lys292Arg) c.530A>G (p.Lys177Arg) c.878A>G (p.Lys293Arg) c.776A>G (p.Lys259Arg) c.719A>G (p.Lys240Arg) c.782A>G (p.Lys261Arg) c.770A>G (p.Lys257Arg) | |
| 2 | g.144403932T>G | CA348714583 | ZEB2 | c.*640A>C (n.*640A>C) c.14A>C (p.Lys5Thr) c.791A>C (p.Lys264Thr) n.760A>C c.455A>C (p.Lys152Thr) c.*508A>C (n.*508A>C) n.891A>C c.-133-5082A>C (n.-133-5082A>C) c.788A>C (p.Lys263Thr) c.875A>C (p.Lys292Thr) c.530A>C (p.Lys177Thr) c.878A>C (p.Lys293Thr) c.776A>C (p.Lys259Thr) c.719A>C (p.Lys240Thr) c.782A>C (p.Lys261Thr) c.770A>C (p.Lys257Thr) | |
| 2 | g.144403932_144403934delinsTTG | CA1294887165 | ZEB2 | c.*638_*640delinsCAA (n.*638_*640delinsCAA) c.12_14delinsCAA (p.His4=) c.789_791delinsCAA (p.His263=) n.758_760delinsCAA c.453_455delinsCAA (p.His151=) c.*506_*508delinsCAA (n.*506_*508delinsCAA) n.889_891delinsCAA c.-133-5084_-133-5082delinsCAA (n.-133-5084_-133-5082delinsCAA) c.786_788delinsCAA (p.His262=) c.873_875delinsCAA (p.His291=) c.528_530delinsCAA (p.His176=) c.876_878delinsCAA (p.His292=) c.774_776delinsCAA (p.His258=) c.717_719delinsCAA (p.His239=) c.780_782delinsCAA (p.His260=) c.768_770delinsCAA (p.His256=) | |
| 2 | g.144403933T>A | CA348714584 | ZEB2 | c.*639A>T (n.*639A>T) c.13A>T (p.Lys5Ter) c.790A>T (p.Lys264Ter) n.759A>T c.454A>T (p.Lys152Ter) c.*507A>T (n.*507A>T) n.890A>T c.-133-5083A>T (n.-133-5083A>T) c.787A>T (p.Lys263Ter) c.874A>T (p.Lys292Ter) c.529A>T (p.Lys177Ter) c.877A>T (p.Lys293Ter) c.775A>T (p.Lys259Ter) c.718A>T (p.Lys240Ter) c.781A>T (p.Lys261Ter) c.769A>T (p.Lys257Ter) | |
| 2 | g.144403933T>C | CA348714585 | ZEB2 | c.*639A>G (n.*639A>G) c.13A>G (p.Lys5Glu) c.790A>G (p.Lys264Glu) n.759A>G c.454A>G (p.Lys152Glu) c.*507A>G (n.*507A>G) n.890A>G c.-133-5083A>G (n.-133-5083A>G) c.787A>G (p.Lys263Glu) c.874A>G (p.Lys292Glu) c.529A>G (p.Lys177Glu) c.877A>G (p.Lys293Glu) c.775A>G (p.Lys259Glu) c.718A>G (p.Lys240Glu) c.781A>G (p.Lys261Glu) c.769A>G (p.Lys257Glu) | |
| 2 | g.144403933T>G | CA348714586 | ZEB2 | c.*639A>C (n.*639A>C) c.13A>C (p.Lys5Gln) c.790A>C (p.Lys264Gln) n.759A>C c.454A>C (p.Lys152Gln) c.*507A>C (n.*507A>C) n.890A>C c.-133-5083A>C (n.-133-5083A>C) c.787A>C (p.Lys263Gln) c.874A>C (p.Lys292Gln) c.529A>C (p.Lys177Gln) c.877A>C (p.Lys293Gln) c.775A>C (p.Lys259Gln) c.718A>C (p.Lys240Gln) c.781A>C (p.Lys261Gln) c.769A>C (p.Lys257Gln) | |
| 2 | g.144403938_144403939del | CA658795852 | ZEB2 | c.*638_*639del (n.*638_*639del) c.12_13del (p.His4GlnfsTer16) c.789_790del (p.His263GlnfsTer16) n.758_759del c.453_454del (p.His151GlnfsTer16) c.*506_*507del (n.*506_*507del) n.889_890del c.-133-5084_-133-5083del (n.-133-5084_-133-5083del) c.786_787del (p.His262GlnfsTer16) c.873_874del (p.His291GlnfsTer16) c.528_529del (p.His176GlnfsTer16) c.876_877del (p.His292GlnfsTer16) c.774_775del (p.His258GlnfsTer16) c.717_718del (p.His239GlnfsTer16) c.780_781del (p.His260GlnfsTer16) c.768_769del (p.His256GlnfsTer16) | ClinVar dbSNP |
| 2 | g.144403934G>A | CA429218448 | ZEB2 | c.*638C>T (n.*638C>T) c.12C>T (p.His4=) c.789C>T (p.His263=) n.758C>T c.453C>T (p.His151=) c.*506C>T (n.*506C>T) n.889C>T c.-133-5084C>T (n.-133-5084C>T) c.786C>T (p.His262=) c.873C>T (p.His291=) c.528C>T (p.His176=) c.876C>T (p.His292=) c.774C>T (p.His258=) c.717C>T (p.His239=) c.780C>T (p.His260=) c.768C>T (p.His256=) | |
| 2 | g.144403934G>C | CA348714587 | ZEB2 | c.*638C>G (n.*638C>G) c.12C>G (p.His4Gln) c.789C>G (p.His263Gln) n.758C>G c.453C>G (p.His151Gln) c.*506C>G (n.*506C>G) n.889C>G c.-133-5084C>G (n.-133-5084C>G) c.786C>G (p.His262Gln) c.873C>G (p.His291Gln) c.528C>G (p.His176Gln) c.876C>G (p.His292Gln) c.774C>G (p.His258Gln) c.717C>G (p.His239Gln) c.780C>G (p.His260Gln) c.768C>G (p.His256Gln) | gnomAD v4 |
| 2 | g.144403934G>T | CA348714588 | ZEB2 | c.*638C>A (n.*638C>A) c.12C>A (p.His4Gln) c.789C>A (p.His263Gln) n.758C>A c.453C>A (p.His151Gln) c.*506C>A (n.*506C>A) n.889C>A c.-133-5084C>A (n.-133-5084C>A) c.786C>A (p.His262Gln) c.873C>A (p.His291Gln) c.528C>A (p.His176Gln) c.876C>A (p.His292Gln) c.774C>A (p.His258Gln) c.717C>A (p.His239Gln) c.780C>A (p.His260Gln) c.768C>A (p.His256Gln) | |
| 2 | g.144403935T>A | CA348714591 | ZEB2 | c.*637A>T (n.*637A>T) c.11A>T (p.His4Leu) c.788A>T (p.His263Leu) n.757A>T c.452A>T (p.His151Leu) c.*505A>T (n.*505A>T) n.888A>T c.-133-5085A>T (n.-133-5085A>T) c.785A>T (p.His262Leu) c.872A>T (p.His291Leu) c.527A>T (p.His176Leu) c.875A>T (p.His292Leu) c.773A>T (p.His258Leu) c.716A>T (p.His239Leu) c.779A>T (p.His260Leu) c.767A>T (p.His256Leu) | |
| 2 | g.144403935T>C | CA348714590 | ZEB2 | c.*637A>G (n.*637A>G) c.11A>G (p.His4Arg) c.788A>G (p.His263Arg) n.757A>G c.452A>G (p.His151Arg) c.*505A>G (n.*505A>G) n.888A>G c.-133-5085A>G (n.-133-5085A>G) c.785A>G (p.His262Arg) c.872A>G (p.His291Arg) c.527A>G (p.His176Arg) c.875A>G (p.His292Arg) c.773A>G (p.His258Arg) c.716A>G (p.His239Arg) c.779A>G (p.His260Arg) c.767A>G (p.His256Arg) | COSMIC |
| 2 | g.144403935T>G | CA348714589 | ZEB2 | c.*637A>C (n.*637A>C) c.11A>C (p.His4Pro) c.788A>C (p.His263Pro) n.757A>C c.452A>C (p.His151Pro) c.*505A>C (n.*505A>C) n.888A>C c.-133-5085A>C (n.-133-5085A>C) c.785A>C (p.His262Pro) c.872A>C (p.His291Pro) c.527A>C (p.His176Pro) c.875A>C (p.His292Pro) c.773A>C (p.His258Pro) c.716A>C (p.His239Pro) c.779A>C (p.His260Pro) c.767A>C (p.His256Pro) | ClinVar dbSNP |
| 2 | g.144403936G>A | CA348714594 | ZEB2 | c.*636C>T (n.*636C>T) c.10C>T (p.His4Tyr) c.787C>T (p.His263Tyr) n.756C>T c.451C>T (p.His151Tyr) c.*504C>T (n.*504C>T) n.887C>T c.-133-5086C>T (n.-133-5086C>T) c.784C>T (p.His262Tyr) c.871C>T (p.His291Tyr) c.526C>T (p.His176Tyr) c.874C>T (p.His292Tyr) c.772C>T (p.His258Tyr) c.715C>T (p.His239Tyr) c.778C>T (p.His260Tyr) c.766C>T (p.His256Tyr) | |
| 2 | g.144403936G>C | CA348714592 | ZEB2 | c.*636C>G (n.*636C>G) c.10C>G (p.His4Asp) c.787C>G (p.His263Asp) n.756C>G c.451C>G (p.His151Asp) c.*504C>G (n.*504C>G) n.887C>G c.-133-5086C>G (n.-133-5086C>G) c.784C>G (p.His262Asp) c.871C>G (p.His291Asp) c.526C>G (p.His176Asp) c.874C>G (p.His292Asp) c.772C>G (p.His258Asp) c.715C>G (p.His239Asp) c.778C>G (p.His260Asp) c.766C>G (p.His256Asp) | |
| 2 | g.144403936G>T | CA348714593 | ZEB2 | c.*636C>A (n.*636C>A) c.10C>A (p.His4Asn) c.787C>A (p.His263Asn) n.756C>A c.451C>A (p.His151Asn) c.*504C>A (n.*504C>A) n.887C>A c.-133-5086C>A (n.-133-5086C>A) c.784C>A (p.His262Asn) c.871C>A (p.His291Asn) c.526C>A (p.His176Asn) c.874C>A (p.His292Asn) c.772C>A (p.His258Asn) c.715C>A (p.His239Asn) c.778C>A (p.His260Asn) c.766C>A (p.His256Asn) | |
| 2 | g.144403937T>A | CA429218449 | ZEB2 | c.*635A>T (n.*635A>T) c.9A>T (p.Thr3=) c.786A>T (p.Thr262=) n.755A>T c.450A>T (p.Thr150=) c.*503A>T (n.*503A>T) n.886A>T c.-133-5087A>T (n.-133-5087A>T) c.783A>T (p.Thr261=) c.870A>T (p.Thr290=) c.525A>T (p.Thr175=) c.873A>T (p.Thr291=) c.771A>T (p.Thr257=) c.714A>T (p.Thr238=) c.777A>T (p.Thr259=) c.765A>T (p.Thr255=) | |
| 2 | g.144403937T>C | CA429218450 | ZEB2 | c.*635A>G (n.*635A>G) c.9A>G (p.Thr3=) c.786A>G (p.Thr262=) n.755A>G c.450A>G (p.Thr150=) c.*503A>G (n.*503A>G) n.886A>G c.-133-5087A>G (n.-133-5087A>G) c.783A>G (p.Thr261=) c.870A>G (p.Thr290=) c.525A>G (p.Thr175=) c.873A>G (p.Thr291=) c.771A>G (p.Thr257=) c.714A>G (p.Thr238=) c.777A>G (p.Thr259=) c.765A>G (p.Thr255=) | dbSNP COSMIC |
| 2 | g.144403937T>G | CA429218451 | ZEB2 | c.*635A>C (n.*635A>C) c.9A>C (p.Thr3=) c.786A>C (p.Thr262=) n.755A>C c.450A>C (p.Thr150=) c.*503A>C (n.*503A>C) n.886A>C c.-133-5087A>C (n.-133-5087A>C) c.783A>C (p.Thr261=) c.870A>C (p.Thr290=) c.525A>C (p.Thr175=) c.873A>C (p.Thr291=) c.771A>C (p.Thr257=) c.714A>C (p.Thr238=) c.777A>C (p.Thr259=) c.765A>C (p.Thr255=) | |
| 2 | g.144403937dup | CA2586965031 | ZEB2 | c.*635dup (n.*635dup) c.9dup (p.His4ThrfsTer17) c.786dup (p.His263ThrfsTer17) n.755dup c.450dup (p.His151ThrfsTer17) c.*503dup (n.*503dup) n.886dup c.-133-5087dup (n.-133-5087dup) c.783dup (p.His262ThrfsTer17) c.870dup (p.His291ThrfsTer17) c.525dup (p.His176ThrfsTer17) c.873dup (p.His292ThrfsTer17) c.771dup (p.His258ThrfsTer17) c.714dup (p.His239ThrfsTer17) c.777dup (p.His260ThrfsTer17) c.765dup (p.His256ThrfsTer17) | |
| 2 | g.144403938G>A | CA348714595 | ZEB2 | c.*634C>T (n.*634C>T) c.8C>T (p.Thr3Ile) c.785C>T (p.Thr262Ile) n.754C>T c.449C>T (p.Thr150Ile) c.*502C>T (n.*502C>T) n.885C>T c.-133-5088C>T (n.-133-5088C>T) c.782C>T (p.Thr261Ile) c.869C>T (p.Thr290Ile) c.524C>T (p.Thr175Ile) c.872C>T (p.Thr291Ile) c.770C>T (p.Thr257Ile) c.713C>T (p.Thr238Ile) c.776C>T (p.Thr259Ile) c.764C>T (p.Thr255Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.144403938G>C | CA348714596 | ZEB2 | c.*634C>G (n.*634C>G) c.8C>G (p.Thr3Arg) c.785C>G (p.Thr262Arg) n.754C>G c.449C>G (p.Thr150Arg) c.*502C>G (n.*502C>G) n.885C>G c.-133-5088C>G (n.-133-5088C>G) c.782C>G (p.Thr261Arg) c.869C>G (p.Thr290Arg) c.524C>G (p.Thr175Arg) c.872C>G (p.Thr291Arg) c.770C>G (p.Thr257Arg) c.713C>G (p.Thr238Arg) c.776C>G (p.Thr259Arg) c.764C>G (p.Thr255Arg) | |
| 2 | g.144403938G= | CA1294887166 | ZEB2 | c.*634C= (n.*634C=) c.8C= (p.Thr3=) c.785C= (p.Thr262=) n.754C= c.449C= (p.Thr150=) c.*502C= (n.*502C=) n.885C= c.-133-5088C= (n.-133-5088C=) c.782C= (p.Thr261=) c.869C= (p.Thr290=) c.524C= (p.Thr175=) c.872C= (p.Thr291=) c.770C= (p.Thr257=) c.713C= (p.Thr238=) c.776C= (p.Thr259=) c.764C= (p.Thr255=) | |
| 2 | g.144403938G>T | CA348714597 | ZEB2 | c.*634C>A (n.*634C>A) c.8C>A (p.Thr3Lys) c.785C>A (p.Thr262Lys) n.754C>A c.449C>A (p.Thr150Lys) c.*502C>A (n.*502C>A) n.885C>A c.-133-5088C>A (n.-133-5088C>A) c.782C>A (p.Thr261Lys) c.869C>A (p.Thr290Lys) c.524C>A (p.Thr175Lys) c.872C>A (p.Thr291Lys) c.770C>A (p.Thr257Lys) c.713C>A (p.Thr238Lys) c.776C>A (p.Thr259Lys) c.764C>A (p.Thr255Lys) | |
| 2 | g.144403939T>A | CA348714598 | ZEB2 | c.*633A>T (n.*633A>T) c.7A>T (p.Thr3Ser) c.784A>T (p.Thr262Ser) n.753A>T c.448A>T (p.Thr150Ser) c.*501A>T (n.*501A>T) n.884A>T c.-133-5089A>T (n.-133-5089A>T) c.781A>T (p.Thr261Ser) c.868A>T (p.Thr290Ser) c.523A>T (p.Thr175Ser) c.871A>T (p.Thr291Ser) c.769A>T (p.Thr257Ser) c.712A>T (p.Thr238Ser) c.775A>T (p.Thr259Ser) c.763A>T (p.Thr255Ser) | |
| 2 | g.144403939T>C | CA348714599 | ZEB2 | c.*633A>G (n.*633A>G) c.7A>G (p.Thr3Ala) c.784A>G (p.Thr262Ala) n.753A>G c.448A>G (p.Thr150Ala) c.*501A>G (n.*501A>G) n.884A>G c.-133-5089A>G (n.-133-5089A>G) c.781A>G (p.Thr261Ala) c.868A>G (p.Thr290Ala) c.523A>G (p.Thr175Ala) c.871A>G (p.Thr291Ala) c.769A>G (p.Thr257Ala) c.712A>G (p.Thr238Ala) c.775A>G (p.Thr259Ala) c.763A>G (p.Thr255Ala) | dbSNP |
| 2 | g.144403939T>G | CA348714600 | ZEB2 | c.*633A>C (n.*633A>C) c.7A>C (p.Thr3Pro) c.784A>C (p.Thr262Pro) n.753A>C c.448A>C (p.Thr150Pro) c.*501A>C (n.*501A>C) n.884A>C c.-133-5089A>C (n.-133-5089A>C) c.781A>C (p.Thr261Pro) c.868A>C (p.Thr290Pro) c.523A>C (p.Thr175Pro) c.871A>C (p.Thr291Pro) c.769A>C (p.Thr257Pro) c.712A>C (p.Thr238Pro) c.775A>C (p.Thr259Pro) c.763A>C (p.Thr255Pro) | |
| 2 | g.144403939T= | CA1294887167 | ZEB2 | c.*633A= (n.*633A=) c.7A= (p.Thr3=) c.784A= (p.Thr262=) n.753A= c.448A= (p.Thr150=) c.*501A= (n.*501A=) n.884A= c.-133-5089A= (n.-133-5089A=) c.781A= (p.Thr261=) c.868A= (p.Thr290=) c.523A= (p.Thr175=) c.871A= (p.Thr291=) c.769A= (p.Thr257=) c.712A= (p.Thr238=) c.775A= (p.Thr259=) c.763A= (p.Thr255=) | |
| 2 | g.144403939_144403941delinsTCA | CA1294887168 | ZEB2 | c.*631_*633delinsTGA (n.*631_*633delinsTGA) c.5_7delinsTGA (p.Val2=) c.782_784delinsTGA (p.Val261=) n.751_753delinsTGA c.446_448delinsTGA (p.Val149=) c.*499_*501delinsTGA (n.*499_*501delinsTGA) n.882_884delinsTGA c.-133-5091_-133-5089delinsTGA (n.-133-5091_-133-5089delinsTGA) c.779_781delinsTGA (p.Val260=) c.866_868delinsTGA (p.Val289=) c.521_523delinsTGA (p.Val174=) c.869_871delinsTGA (p.Val290=) c.767_769delinsTGA (p.Val256=) c.710_712delinsTGA (p.Val237=) c.773_775delinsTGA (p.Val258=) c.761_763delinsTGA (p.Val254=) | |
| 2 | g.144403940C>A | CA429218453 | ZEB2 | c.*632G>T (n.*632G>T) c.6G>T (p.Val2=) c.783G>T (p.Val261=) n.752G>T c.447G>T (p.Val149=) c.*500G>T (n.*500G>T) n.883G>T c.-133-5090G>T (n.-133-5090G>T) c.780G>T (p.Val260=) c.867G>T (p.Val289=) c.522G>T (p.Val174=) c.870G>T (p.Val290=) c.768G>T (p.Val256=) c.711G>T (p.Val237=) c.774G>T (p.Val258=) c.762G>T (p.Val254=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.144403940C= | CA1294887169 | ZEB2 | c.*632G= (n.*632G=) c.6G= (p.Val2=) c.783G= (p.Val261=) n.752G= c.447G= (p.Val149=) c.*500G= (n.*500G=) n.883G= c.-133-5090G= (n.-133-5090G=) c.780G= (p.Val260=) c.867G= (p.Val289=) c.522G= (p.Val174=) c.870G= (p.Val290=) c.768G= (p.Val256=) c.711G= (p.Val237=) c.774G= (p.Val258=) c.762G= (p.Val254=) | |
| 2 | g.144403940C>G | CA429218454 | ZEB2 | c.*632G>C (n.*632G>C) c.6G>C (p.Val2=) c.783G>C (p.Val261=) n.752G>C c.447G>C (p.Val149=) c.*500G>C (n.*500G>C) n.883G>C c.-133-5090G>C (n.-133-5090G>C) c.780G>C (p.Val260=) c.867G>C (p.Val289=) c.522G>C (p.Val174=) c.870G>C (p.Val290=) c.768G>C (p.Val256=) c.711G>C (p.Val237=) c.774G>C (p.Val258=) c.762G>C (p.Val254=) | |
| 2 | g.144403940C>T | CA429218455 | ZEB2 | c.*632G>A (n.*632G>A) c.6G>A (p.Val2=) c.783G>A (p.Val261=) n.752G>A c.447G>A (p.Val149=) c.*500G>A (n.*500G>A) n.883G>A c.-133-5090G>A (n.-133-5090G>A) c.780G>A (p.Val260=) c.867G>A (p.Val289=) c.522G>A (p.Val174=) c.870G>A (p.Val290=) c.768G>A (p.Val256=) c.711G>A (p.Val237=) c.774G>A (p.Val258=) c.762G>A (p.Val254=) | COSMIC |
| 2 | g.144403941_144403942del | CA267216 | ZEB2 | c.*631_*632del (n.*631_*632del) c.5_6del (p.Val2AspfsTer18) c.782_783del (p.Val261AspfsTer18) n.751_752del c.446_447del (p.Val149AspfsTer18) c.*499_*500del (n.*499_*500del) n.882_883del c.-133-5091_-133-5090del (n.-133-5091_-133-5090del) c.779_780del (p.Val260AspfsTer18) c.866_867del (p.Val289AspfsTer18) c.521_522del (p.Val174AspfsTer18) c.869_870del (p.Val290AspfsTer18) c.767_768del (p.Val256AspfsTer18) c.710_711del (p.Val237AspfsTer18) c.773_774del (p.Val258AspfsTer18) c.761_762del (p.Val254AspfsTer18) | ClinVar dbSNP |
| 2 | g.144403941A>C | CA348714601 | ZEB2 | c.*631T>G (n.*631T>G) c.5T>G (p.Val2Gly) c.782T>G (p.Val261Gly) n.751T>G c.446T>G (p.Val149Gly) c.*499T>G (n.*499T>G) n.882T>G c.-133-5091T>G (n.-133-5091T>G) c.779T>G (p.Val260Gly) c.866T>G (p.Val289Gly) c.521T>G (p.Val174Gly) c.869T>G (p.Val290Gly) c.767T>G (p.Val256Gly) c.710T>G (p.Val237Gly) c.773T>G (p.Val258Gly) c.761T>G (p.Val254Gly) | |
| 2 | g.144403941A>G | CA348714602 | ZEB2 | c.*631T>C (n.*631T>C) c.5T>C (p.Val2Ala) c.782T>C (p.Val261Ala) n.751T>C c.446T>C (p.Val149Ala) c.*499T>C (n.*499T>C) n.882T>C c.-133-5091T>C (n.-133-5091T>C) c.779T>C (p.Val260Ala) c.866T>C (p.Val289Ala) c.521T>C (p.Val174Ala) c.869T>C (p.Val290Ala) c.767T>C (p.Val256Ala) c.710T>C (p.Val237Ala) c.773T>C (p.Val258Ala) c.761T>C (p.Val254Ala) | |
| 2 | g.144403941A>T | CA348714603 | ZEB2 | c.*631T>A (n.*631T>A) c.5T>A (p.Val2Glu) c.782T>A (p.Val261Glu) n.751T>A c.446T>A (p.Val149Glu) c.*499T>A (n.*499T>A) n.882T>A c.-133-5091T>A (n.-133-5091T>A) c.779T>A (p.Val260Glu) c.866T>A (p.Val289Glu) c.521T>A (p.Val174Glu) c.869T>A (p.Val290Glu) c.767T>A (p.Val256Glu) c.710T>A (p.Val237Glu) c.773T>A (p.Val258Glu) c.761T>A (p.Val254Glu) | |
| 2 | g.144403942C>A | CA348714605 | ZEB2 | c.*630G>T (n.*630G>T) c.4G>T (p.Val2Leu) c.781G>T (p.Val261Leu) n.750G>T c.445G>T (p.Val149Leu) c.*498G>T (n.*498G>T) n.881G>T c.-133-5092G>T (n.-133-5092G>T) c.778G>T (p.Val260Leu) c.865G>T (p.Val289Leu) c.520G>T (p.Val174Leu) c.868G>T (p.Val290Leu) c.766G>T (p.Val256Leu) c.709G>T (p.Val237Leu) c.772G>T (p.Val258Leu) c.760G>T (p.Val254Leu) | |
| 2 | g.144403942C>G | CA348714606 | ZEB2 | c.*630G>C (n.*630G>C) c.4G>C (p.Val2Leu) c.781G>C (p.Val261Leu) n.750G>C c.445G>C (p.Val149Leu) c.*498G>C (n.*498G>C) n.881G>C c.-133-5092G>C (n.-133-5092G>C) c.778G>C (p.Val260Leu) c.865G>C (p.Val289Leu) c.520G>C (p.Val174Leu) c.868G>C (p.Val290Leu) c.766G>C (p.Val256Leu) c.709G>C (p.Val237Leu) c.772G>C (p.Val258Leu) c.760G>C (p.Val254Leu) | |
| 2 | g.144403942C>T | CA348714604 | ZEB2 | c.*630G>A (n.*630G>A) c.4G>A (p.Val2Met) c.781G>A (p.Val261Met) n.750G>A c.445G>A (p.Val149Met) c.*498G>A (n.*498G>A) n.881G>A c.-133-5092G>A (n.-133-5092G>A) c.778G>A (p.Val260Met) c.865G>A (p.Val289Met) c.520G>A (p.Val174Met) c.868G>A (p.Val290Met) c.766G>A (p.Val256Met) c.709G>A (p.Val237Met) c.772G>A (p.Val258Met) c.760G>A (p.Val254Met) | |
| 2 | g.144403943C>A | CA348714607 | ZEB2 | c.*629G>T (n.*629G>T) c.3G>T (p.Met1Ile) c.780G>T (p.Met260Ile) n.749G>T c.444G>T (p.Met148Ile) c.*497G>T (n.*497G>T) n.880G>T c.-133-5093G>T (n.-133-5093G>T) c.777G>T (p.Met259Ile) c.864G>T (p.Met288Ile) c.519G>T (p.Met173Ile) c.867G>T (p.Met289Ile) c.765G>T (p.Met255Ile) c.708G>T (p.Met236Ile) c.771G>T (p.Met257Ile) c.759G>T (p.Met253Ile) | |
| 2 | g.144403943C>G | CA348714608 | ZEB2 | c.*629G>C (n.*629G>C) c.3G>C (p.Met1Ile) c.780G>C (p.Met260Ile) n.749G>C c.444G>C (p.Met148Ile) c.*497G>C (n.*497G>C) n.880G>C c.-133-5093G>C (n.-133-5093G>C) c.777G>C (p.Met259Ile) c.864G>C (p.Met288Ile) c.519G>C (p.Met173Ile) c.867G>C (p.Met289Ile) c.765G>C (p.Met255Ile) c.708G>C (p.Met236Ile) c.771G>C (p.Met257Ile) c.759G>C (p.Met253Ile) | |
| 2 | g.144403943C>T | CA348714609 | ZEB2 | c.*629G>A (n.*629G>A) c.3G>A (p.Met1Ile) c.780G>A (p.Met260Ile) n.749G>A c.444G>A (p.Met148Ile) c.*497G>A (n.*497G>A) n.880G>A c.-133-5093G>A (n.-133-5093G>A) c.777G>A (p.Met259Ile) c.864G>A (p.Met288Ile) c.519G>A (p.Met173Ile) c.867G>A (p.Met289Ile) c.765G>A (p.Met255Ile) c.708G>A (p.Met236Ile) c.771G>A (p.Met257Ile) c.759G>A (p.Met253Ile) | dbSNP |