Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.46726080T>A | CA380265488 | F2 | c.781T>A (p.Phe261Ile) c.751T>A (p.Phe251Ile) c.733T>A (p.Phe245Ile) n.825T>A n.816T>A | |
11 | g.46726080T>C | CA380265489 | F2 | c.781T>C (p.Phe261Leu) c.751T>C (p.Phe251Leu) c.733T>C (p.Phe245Leu) n.825T>C n.816T>C | |
11 | g.46726080T>G | CA380265492 | F2 | c.781T>G (p.Phe261Val) c.751T>G (p.Phe251Val) c.733T>G (p.Phe245Val) n.825T>G n.816T>G | |
11 | g.46726081T>A | CA380265495 | F2 | c.782T>A (p.Phe261Tyr) c.752T>A (p.Phe251Tyr) c.734T>A (p.Phe245Tyr) n.826T>A n.817T>A | |
11 | g.46726081T>C | CA380265497 | F2 | c.782T>C (p.Phe261Ser) c.752T>C (p.Phe251Ser) c.734T>C (p.Phe245Ser) n.826T>C n.817T>C | |
11 | g.46726081T>G | CA380265506 | F2 | c.782T>G (p.Phe261Cys) c.752T>G (p.Phe251Cys) c.734T>G (p.Phe245Cys) n.826T>G n.817T>G | |
11 | g.46726082C>A | CA380265509 | F2 | c.783C>A (p.Phe261Leu) c.753C>A (p.Phe251Leu) c.735C>A (p.Phe245Leu) n.827C>A n.818C>A | |
11 | g.46726082C>G | CA380265511 | F2 | c.783C>G (p.Phe261Leu) c.753C>G (p.Phe251Leu) c.735C>G (p.Phe245Leu) n.827C>G n.818C>G | gnomAD v4 |
11 | g.46726082C>T | CA474043776 | F2 | c.783C>T (p.Phe261=) c.753C>T (p.Phe251=) c.735C>T (p.Phe245=) n.827C>T n.818C>T | gnomAD v4 |
11 | g.46726083T>A | CA380265518 | F2 | c.784T>A (p.Cys262Ser) c.754T>A (p.Cys252Ser) c.736T>A (p.Cys246Ser) n.828T>A n.819T>A | |
11 | g.46726083T>C | CA380265514 | F2 | c.784T>C (p.Cys262Arg) c.754T>C (p.Cys252Arg) c.736T>C (p.Cys246Arg) n.828T>C n.819T>C | |
11 | g.46726083T>G | CA380265517 | F2 | c.784T>G (p.Cys262Gly) c.754T>G (p.Cys252Gly) c.736T>G (p.Cys246Gly) n.828T>G n.819T>G | |
11 | g.46726084G>A | CA380265522 | F2 | c.785G>A (p.Cys262Tyr) c.755G>A (p.Cys252Tyr) c.737G>A (p.Cys246Tyr) n.829G>A n.820G>A | COSMIC |
11 | g.46726084G>C | CA380265526 | F2 | c.785G>C (p.Cys262Ser) c.755G>C (p.Cys252Ser) c.737G>C (p.Cys246Ser) n.829G>C n.820G>C | |
11 | g.46726084G>T | CA380265528 | F2 | c.785G>T (p.Cys262Phe) c.755G>T (p.Cys252Phe) c.737G>T (p.Cys246Phe) n.829G>T n.820G>T | |
11 | g.46726085C>A | CA380265530 | F2 | c.786C>A (p.Cys262Ter) c.756C>A (p.Cys252Ter) c.738C>A (p.Cys246Ter) n.830C>A n.821C>A | |
11 | g.46726085C= | CA1969072217 | F2 | c.786C= (p.Cys262=) c.756C= (p.Cys252=) c.738C= (p.Cys246=) n.830C= n.821C= | |
11 | g.46726085C>G | CA380265532 | F2 | c.786C>G (p.Cys262Trp) c.756C>G (p.Cys252Trp) c.738C>G (p.Cys246Trp) n.830C>G n.821C>G | |
11 | g.46726085C>T | CA474043777 | F2 | c.786C>T (p.Cys262=) c.756C>T (p.Cys252=) c.738C>T (p.Cys246=) n.830C>T n.821C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46726086C>A | CA380265533 | F2 | c.787C>A (p.Arg263Ser) c.757C>A (p.Arg253Ser) c.739C>A (p.Arg247Ser) n.831C>A n.822C>A | |
11 | g.46726086C= | CA1969072219 | F2 | c.787C= (p.Arg263=) c.757C= (p.Arg253=) c.739C= (p.Arg247=) n.831C= n.822C= | |
11 | g.46726086C>G | CA380265534 | F2 | c.787C>G (p.Arg263Gly) c.757C>G (p.Arg253Gly) c.739C>G (p.Arg247Gly) n.831C>G n.822C>G | |
11 | g.46726086C>T | CA380265535 | F2 | c.787C>T (p.Arg263Cys) c.757C>T (p.Arg253Cys) c.739C>T (p.Arg247Cys) n.831C>T n.822C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726087G>A | CA380265538 | F2 | c.788G>A (p.Arg263His) c.758G>A (p.Arg253His) c.740G>A (p.Arg247His) n.832G>A n.823G>A | gnomAD v4 COSMIC |
11 | g.46726087G>C | CA380265541 | F2 | c.788G>C (p.Arg263Pro) c.758G>C (p.Arg253Pro) c.740G>C (p.Arg247Pro) n.832G>C n.823G>C | |
11 | g.46726087G>T | CA380265548 | F2 | c.788G>T (p.Arg263Leu) c.758G>T (p.Arg253Leu) c.740G>T (p.Arg247Leu) n.832G>T n.823G>T | |
11 | g.46726088C>A | CA474043780 | F2 | c.789C>A (p.Arg263=) c.759C>A (p.Arg253=) c.741C>A (p.Arg247=) n.833C>A n.824C>A | |
11 | g.46726088C>G | CA474043779 | F2 | c.789C>G (p.Arg263=) c.759C>G (p.Arg253=) c.741C>G (p.Arg247=) n.833C>G n.824C>G | |
11 | g.46726088C>T | CA474043778 | F2 | c.789C>T (p.Arg263=) c.759C>T (p.Arg253=) c.741C>T (p.Arg247=) n.833C>T n.824C>T | ClinVar |
11 | g.46726089A>C | CA380265550 | F2 | c.790A>C (p.Asn264His) c.760A>C (p.Asn254His) c.742A>C (p.Asn248His) n.834A>C n.825A>C | |
11 | g.46726089A>G | CA380265555 | F2 | c.790A>G (p.Asn264Asp) c.760A>G (p.Asn254Asp) c.742A>G (p.Asn248Asp) n.834A>G n.825A>G | |
11 | g.46726089A>T | CA380265552 | F2 | c.790A>T (p.Asn264Tyr) c.760A>T (p.Asn254Tyr) c.742A>T (p.Asn248Tyr) n.834A>T n.825A>T | |
11 | g.46726090A= | CA1969072221 | F2 | c.791A= (p.Asn264=) c.761A= (p.Asn254=) c.743A= (p.Asn248=) n.835A= n.826A= | |
11 | g.46726090A>C | CA380265574 | F2 | c.791A>C (p.Asn264Thr) c.761A>C (p.Asn254Thr) c.743A>C (p.Asn248Thr) n.835A>C n.826A>C | |
11 | g.46726090A>G | CA5967050 | F2 | c.791A>G (p.Asn264Ser) c.761A>G (p.Asn254Ser) c.743A>G (p.Asn248Ser) n.835A>G n.826A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726090A>T | CA380265577 | F2 | c.791A>T (p.Asn264Ile) c.761A>T (p.Asn254Ile) c.743A>T (p.Asn248Ile) n.835A>T n.826A>T | |
11 | g.46726091C>A | CA380265579 | F2 | c.792C>A (p.Asn264Lys) c.762C>A (p.Asn254Lys) c.744C>A (p.Asn248Lys) n.836C>A n.827C>A | |
11 | g.46726091C>G | CA380265581 | F2 | c.792C>G (p.Asn264Lys) c.762C>G (p.Asn254Lys) c.744C>G (p.Asn248Lys) n.836C>G n.827C>G | |
11 | g.46726091C>T | CA474043781 | F2 | c.792C>T (p.Asn264=) c.762C>T (p.Asn254=) c.744C>T (p.Asn248=) n.836C>T n.827C>T | ClinVar |
11 | g.46726092C>A | CA380265593 | F2 | c.793C>A (p.Pro265Thr) c.763C>A (p.Pro255Thr) c.745C>A (p.Pro249Thr) n.837C>A n.828C>A | |
11 | g.46726092C= | CA1969072222 | F2 | c.793C= (p.Pro265=) c.763C= (p.Pro255=) c.745C= (p.Pro249=) n.837C= n.828C= | |
11 | g.46726092C>G | CA380265592 | F2 | c.793C>G (p.Pro265Ala) c.763C>G (p.Pro255Ala) c.745C>G (p.Pro249Ala) n.837C>G n.828C>G | |
11 | g.46726092C>T | CA221652083 | F2 | c.793C>T (p.Pro265Ser) c.763C>T (p.Pro255Ser) c.745C>T (p.Pro249Ser) n.837C>T n.828C>T | dbSNP |
11 | g.46726093C>A | CA380265594 | F2 | c.794C>A (p.Pro265Gln) c.764C>A (p.Pro255Gln) c.746C>A (p.Pro249Gln) n.838C>A n.829C>A | |
11 | g.46726093C>G | CA380265595 | F2 | c.794C>G (p.Pro265Arg) c.764C>G (p.Pro255Arg) c.746C>G (p.Pro249Arg) n.838C>G n.829C>G | |
11 | g.46726093C>T | CA380265596 | F2 | c.794C>T (p.Pro265Leu) c.764C>T (p.Pro255Leu) c.746C>T (p.Pro249Leu) n.838C>T n.829C>T | |
11 | g.46726094A>C | CA474043782 | F2 | c.795A>C (p.Pro265=) c.765A>C (p.Pro255=) c.747A>C (p.Pro249=) n.839A>C n.830A>C | |
11 | g.46726094A>G | CA474043784 | F2 | c.795A>G (p.Pro265=) c.765A>G (p.Pro255=) c.747A>G (p.Pro249=) n.839A>G n.830A>G | |
11 | g.46726094A>T | CA474043783 | F2 | c.795A>T (p.Pro265=) c.765A>T (p.Pro255=) c.747A>T (p.Pro249=) n.839A>T n.830A>T | |
11 | g.46726095G>A | CA380265600 | F2 | c.796G>A (p.Asp266Asn) c.766G>A (p.Asp256Asn) c.748G>A (p.Asp250Asn) n.840G>A n.831G>A | |
11 | g.46726095G>C | CA380265602 | F2 | c.796G>C (p.Asp266His) c.766G>C (p.Asp256His) c.748G>C (p.Asp250His) n.840G>C n.831G>C | COSMIC |
11 | g.46726095G>T | CA380265604 | F2 | c.796G>T (p.Asp266Tyr) c.766G>T (p.Asp256Tyr) c.748G>T (p.Asp250Tyr) n.840G>T n.831G>T | |
11 | g.46726096A>C | CA380265608 | F2 | c.797A>C (p.Asp266Ala) c.767A>C (p.Asp256Ala) c.749A>C (p.Asp250Ala) n.841A>C n.832A>C | |
11 | g.46726096A>G | CA380265606 | F2 | c.797A>G (p.Asp266Gly) c.767A>G (p.Asp256Gly) c.749A>G (p.Asp250Gly) n.841A>G n.832A>G | |
11 | g.46726096A>T | CA380265607 | F2 | c.797A>T (p.Asp266Val) c.767A>T (p.Asp256Val) c.749A>T (p.Asp250Val) n.841A>T n.832A>T | |
11 | g.46726097C>A | CA380265609 | F2 | c.798C>A (p.Asp266Glu) c.768C>A (p.Asp256Glu) c.750C>A (p.Asp250Glu) n.842C>A n.833C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726097C= | CA1969072225 | F2 | c.798C= (p.Asp266=) c.768C= (p.Asp256=) c.750C= (p.Asp250=) n.842C= n.833C= | |
11 | g.46726097C>G | CA380265611 | F2 | c.798C>G (p.Asp266Glu) c.768C>G (p.Asp256Glu) c.750C>G (p.Asp250Glu) n.842C>G n.833C>G | gnomAD v4 |
11 | g.46726097C>T | CA5967051 | F2 | c.798C>T (p.Asp266=) c.768C>T (p.Asp256=) c.750C>T (p.Asp250=) n.842C>T n.833C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726098G>A | CA5967053 | F2 | c.799G>A (p.Gly267Arg) c.769G>A (p.Gly257Arg) c.751G>A (p.Gly251Arg) n.843G>A n.834G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726098G>C | CA221652109 | F2 | c.799G>C (p.Gly267Arg) c.769G>C (p.Gly257Arg) c.751G>C (p.Gly251Arg) n.843G>C n.834G>C | dbSNP |
11 | g.46726098G= | CA1969072228 | F2 | c.799G= (p.Gly267=) c.769G= (p.Gly257=) c.751G= (p.Gly251=) n.843G= n.834G= | |
11 | g.46726098G>T | CA5967052 | F2 | c.799G>T (p.Gly267Trp) c.769G>T (p.Gly257Trp) c.751G>T (p.Gly251Trp) n.843G>T n.834G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46726098_46726099delinsAA | CA645571956 | F2 | c.799_800delinsAA (p.Gly267Lys) c.769_770delinsAA (p.Gly257Lys) c.751_752delinsAA (p.Gly251Lys) n.843_844delinsAA n.834_835delinsAA | COSMIC |
11 | g.46726099G>A | CA380265620 | F2 | c.800G>A (p.Gly267Glu) c.770G>A (p.Gly257Glu) c.752G>A (p.Gly251Glu) n.844G>A n.835G>A | COSMIC |
11 | g.46726099G>C | CA380265622 | F2 | c.800G>C (p.Gly267Ala) c.770G>C (p.Gly257Ala) c.752G>C (p.Gly251Ala) n.844G>C n.835G>C | gnomAD v4 |
11 | g.46726099G>T | CA380265623 | F2 | c.800G>T (p.Gly267Val) c.770G>T (p.Gly257Val) c.752G>T (p.Gly251Val) n.844G>T n.835G>T | dbSNP |
11 | g.46726100G>A | CA474043785 | F2 | c.801G>A (p.Gly267=) c.771G>A (p.Gly257=) c.753G>A (p.Gly251=) n.845G>A n.836G>A | gnomAD v4 |
11 | g.46726100G>C | CA474043786 | F2 | c.801G>C (p.Gly267=) c.771G>C (p.Gly257=) c.753G>C (p.Gly251=) n.845G>C n.836G>C | |
11 | g.46726100G= | CA1969072230 | F2 | c.801G= (p.Gly267=) c.771G= (p.Gly257=) c.753G= (p.Gly251=) n.845G= n.836G= | |
11 | g.46726100G>T | CA5967054 | F2 | c.801G>T (p.Gly267=) c.771G>T (p.Gly257=) c.753G>T (p.Gly251=) n.845G>T n.836G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726101G>A | CA380265628 | F2 | c.802G>A (p.Asp268Asn) c.772G>A (p.Asp258Asn) c.754G>A (p.Asp252Asn) n.846G>A n.837G>A | COSMIC |
11 | g.46726101G>C | CA380265630 | F2 | c.802G>C (p.Asp268His) c.772G>C (p.Asp258His) c.754G>C (p.Asp252His) n.846G>C n.837G>C | |
11 | g.46726101G>T | CA380265634 | F2 | c.802G>T (p.Asp268Tyr) c.772G>T (p.Asp258Tyr) c.754G>T (p.Asp252Tyr) n.846G>T n.837G>T | |
11 | g.46726102A>C | CA380265652 | F2 | c.803A>C (p.Asp268Ala) c.773A>C (p.Asp258Ala) c.755A>C (p.Asp252Ala) n.847A>C n.838A>C | |
11 | g.46726102A>G | CA380265645 | F2 | c.803A>G (p.Asp268Gly) c.773A>G (p.Asp258Gly) c.755A>G (p.Asp252Gly) n.847A>G n.838A>G | |
11 | g.46726102A>T | CA380265647 | F2 | c.803A>T (p.Asp268Val) c.773A>T (p.Asp258Val) c.755A>T (p.Asp252Val) n.847A>T n.838A>T | |
11 | g.46726102_46726103insCACACTGC | CA2518763544 | F2 | c.803_804insCACACTGC (p.Glu269ThrfsTer?) c.773_774insCACACTGC (p.Glu259ThrfsTer?) c.755_756insCACACTGC (p.Glu253ThrfsTer?) n.847_848insCACACTGC n.838_839insCACACTGC | |
11 | g.46726103T>A | CA380265655 | F2 | c.804T>A (p.Asp268Glu) c.774T>A (p.Asp258Glu) c.756T>A (p.Asp252Glu) n.848T>A n.839T>A | |
11 | g.46726103T>C | CA474043787 | F2 | c.804T>C (p.Asp268=) c.774T>C (p.Asp258=) c.756T>C (p.Asp252=) n.848T>C n.839T>C | |
11 | g.46726103T>G | CA380265658 | F2 | c.804T>G (p.Asp268Glu) c.774T>G (p.Asp258Glu) c.756T>G (p.Asp252Glu) n.848T>G n.839T>G | |
11 | g.46726103_46726106delinsTGAG | CA1969072232 | F2 | c.804_807delinsTGAG (p.Asp268=) c.774_777delinsTGAG (p.Asp258=) c.756_759delinsTGAG (p.Asp252=) n.848_851delinsTGAG n.839_842delinsTGAG | |
11 | g.46726104G>A | CA380265664 | F2 | c.805G>A (p.Glu269Lys) c.775G>A (p.Glu259Lys) c.757G>A (p.Glu253Lys) n.849G>A n.840G>A | gnomAD v4 |
11 | g.46726104G>C | CA380265668 | F2 | c.805G>C (p.Glu269Gln) c.775G>C (p.Glu259Gln) c.757G>C (p.Glu253Gln) n.849G>C n.840G>C | |
11 | g.46726104G>T | CA380265673 | F2 | c.805G>T (p.Glu269Ter) c.775G>T (p.Glu259Ter) c.757G>T (p.Glu253Ter) n.849G>T n.840G>T | |
11 | g.46726108_46726110del | CA1969072235 | F2 | c.809_811del (p.Glu270del) c.779_781del (p.Glu260del) c.761_763del (p.Glu254del) n.853_855del n.844_846del | dbSNP |
11 | g.46726105A>C | CA380265677 | F2 | c.806A>C (p.Glu269Ala) c.776A>C (p.Glu259Ala) c.758A>C (p.Glu253Ala) n.850A>C n.841A>C | |
11 | g.46726105A>G | CA380265690 | F2 | c.806A>G (p.Glu269Gly) c.776A>G (p.Glu259Gly) c.758A>G (p.Glu253Gly) n.850A>G n.841A>G | |
11 | g.46726105A>T | CA380265697 | F2 | c.806A>T (p.Glu269Val) c.776A>T (p.Glu259Val) c.758A>T (p.Glu253Val) n.850A>T n.841A>T | |
11 | g.46726106G>A | CA474043788 | F2 | c.807G>A (p.Glu269=) c.777G>A (p.Glu259=) c.759G>A (p.Glu253=) n.851G>A n.842G>A | |
11 | g.46726106G>C | CA380265700 | F2 | c.807G>C (p.Glu269Asp) c.777G>C (p.Glu259Asp) c.759G>C (p.Glu253Asp) n.851G>C n.842G>C | |
11 | g.46726106G>T | CA380265701 | F2 | c.807G>T (p.Glu269Asp) c.777G>T (p.Glu259Asp) c.759G>T (p.Glu253Asp) n.851G>T n.842G>T | |
11 | g.46726107G>A | CA380265704 | F2 | c.808G>A (p.Glu270Lys) c.778G>A (p.Glu260Lys) c.760G>A (p.Glu254Lys) n.852G>A n.843G>A | COSMIC |
11 | g.46726107G>C | CA380265709 | F2 | c.808G>C (p.Glu270Gln) c.778G>C (p.Glu260Gln) c.760G>C (p.Glu254Gln) n.852G>C n.843G>C | |
11 | g.46726107G>T | CA380265715 | F2 | c.808G>T (p.Glu270Ter) c.778G>T (p.Glu260Ter) c.760G>T (p.Glu254Ter) n.852G>T n.843G>T | |
11 | g.46726108A>C | CA380265744 | F2 | c.809A>C (p.Glu270Ala) c.779A>C (p.Glu260Ala) c.761A>C (p.Glu254Ala) n.853A>C n.844A>C | |
11 | g.46726108A>G | CA380265730 | F2 | c.809A>G (p.Glu270Gly) c.779A>G (p.Glu260Gly) c.761A>G (p.Glu254Gly) n.853A>G n.844A>G | |
11 | g.46726108A>T | CA380265740 | F2 | c.809A>T (p.Glu270Val) c.779A>T (p.Glu260Val) c.761A>T (p.Glu254Val) n.853A>T n.844A>T | |
11 | g.46726109G>A | CA474043789 | F2 | c.810G>A (p.Glu270=) c.780G>A (p.Glu260=) c.762G>A (p.Glu254=) n.854G>A n.845G>A | |
11 | g.46726109G>C | CA380265749 | F2 | c.810G>C (p.Glu270Asp) c.780G>C (p.Glu260Asp) c.762G>C (p.Glu254Asp) n.854G>C n.845G>C | |
11 | g.46726109G>T | CA380265751 | F2 | c.810G>T (p.Glu270Asp) c.780G>T (p.Glu260Asp) c.762G>T (p.Glu254Asp) n.854G>T n.845G>T | |
11 | g.46726110G>A | CA380265755 | F2 | c.811G>A (p.Gly271Ser) c.781G>A (p.Gly261Ser) c.763G>A (p.Gly255Ser) n.855G>A n.846G>A | |
11 | g.46726110G>C | CA380265758 | F2 | c.811G>C (p.Gly271Arg) c.781G>C (p.Gly261Arg) c.763G>C (p.Gly255Arg) n.855G>C n.846G>C | |
11 | g.46726110G>T | CA380265761 | F2 | c.811G>T (p.Gly271Cys) c.781G>T (p.Gly261Cys) c.763G>T (p.Gly255Cys) n.855G>T n.846G>T | |
11 | g.46726111G>A | CA5967055 | F2 | c.812G>A (p.Gly271Asp) c.782G>A (p.Gly261Asp) c.764G>A (p.Gly255Asp) n.856G>A n.847G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726111G>C | CA380265767 | F2 | c.812G>C (p.Gly271Ala) c.782G>C (p.Gly261Ala) c.764G>C (p.Gly255Ala) n.856G>C n.847G>C | |
11 | g.46726111G= | CA1969072239 | F2 | c.812G= (p.Gly271=) c.782G= (p.Gly261=) c.764G= (p.Gly255=) n.856G= n.847G= | |
11 | g.46726111G>T | CA380265770 | F2 | c.812G>T (p.Gly271Val) c.782G>T (p.Gly261Val) c.764G>T (p.Gly255Val) n.856G>T n.847G>T | |
11 | g.46726112C>A | CA474043790 | F2 | c.813C>A (p.Gly271=) c.783C>A (p.Gly261=) c.765C>A (p.Gly255=) n.857C>A n.848C>A | gnomAD v4 |
11 | g.46726112C= | CA1969072242 | F2 | c.813C= (p.Gly271=) c.783C= (p.Gly261=) c.765C= (p.Gly255=) n.857C= n.848C= | |
11 | g.46726112C>G | CA474043791 | F2 | c.813C>G (p.Gly271=) c.783C>G (p.Gly261=) c.765C>G (p.Gly255=) n.857C>G n.848C>G | ClinVar |
11 | g.46726112C>T | CA5967056 | F2 | c.813C>T (p.Gly271=) c.783C>T (p.Gly261=) c.765C>T (p.Gly255=) n.857C>T n.848C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726113G>A | CA5967057 | F2 | c.814G>A (p.Val272Met) c.784G>A (p.Val262Met) c.766G>A (p.Val256Met) n.858G>A n.849G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726113G>C | CA380265778 | F2 | c.814G>C (p.Val272Leu) c.784G>C (p.Val262Leu) c.766G>C (p.Val256Leu) n.858G>C n.849G>C | |
11 | g.46726113G= | CA1969072245 | F2 | c.814G= (p.Val272=) c.784G= (p.Val262=) c.766G= (p.Val256=) n.858G= n.849G= | |
11 | g.46726113G>T | CA380265780 | F2 | c.814G>T (p.Val272Leu) c.784G>T (p.Val262Leu) c.766G>T (p.Val256Leu) n.858G>T n.849G>T | |
11 | g.46726114T>A | CA380265786 | F2 | c.815T>A (p.Val272Glu) c.785T>A (p.Val262Glu) c.767T>A (p.Val256Glu) n.859T>A n.850T>A | |
11 | g.46726114T>C | CA221652150 | F2 | c.815T>C (p.Val272Ala) c.785T>C (p.Val262Ala) c.767T>C (p.Val256Ala) n.859T>C n.850T>C | dbSNP |
11 | g.46726114T>G | CA380265790 | F2 | c.815T>G (p.Val272Gly) c.785T>G (p.Val262Gly) c.767T>G (p.Val256Gly) n.859T>G n.850T>G | |
11 | g.46726114T= | CA1969072250 | F2 | c.815T= (p.Val272=) c.785T= (p.Val262=) c.767T= (p.Val256=) n.859T= n.850T= | |
11 | g.46726115G>A | CA474043793 | F2 | c.816G>A (p.Val272=) c.786G>A (p.Val262=) c.768G>A (p.Val256=) n.860G>A n.851G>A | dbSNP |
11 | g.46726115G>C | CA474043794 | F2 | c.816G>C (p.Val272=) c.786G>C (p.Val262=) c.768G>C (p.Val256=) n.860G>C n.851G>C | |
11 | g.46726115G= | CA1969072252 | F2 | c.816G= (p.Val272=) c.786G= (p.Val262=) c.768G= (p.Val256=) n.860G= n.851G= | |
11 | g.46726115G>T | CA474043792 | F2 | c.816G>T (p.Val272=) c.786G>T (p.Val262=) c.768G>T (p.Val256=) n.860G>T n.851G>T | gnomAD v4 |
11 | g.46726116T>A | CA380265796 | F2 | c.817T>A (p.Trp273Arg) c.787T>A (p.Trp263Arg) c.769T>A (p.Trp257Arg) n.861T>A n.852T>A | |
11 | g.46726116T>C | CA380265802 | F2 | c.817T>C (p.Trp273Arg) c.787T>C (p.Trp263Arg) c.769T>C (p.Trp257Arg) n.861T>C n.852T>C | |
11 | g.46726116T>G | CA380265798 | F2 | c.817T>G (p.Trp273Gly) c.787T>G (p.Trp263Gly) c.769T>G (p.Trp257Gly) n.861T>G n.852T>G | |
11 | g.46726117G>A | CA380265804 | F2 | c.818G>A (p.Trp273Ter) c.788G>A (p.Trp263Ter) c.770G>A (p.Trp257Ter) n.862G>A n.853G>A | |
11 | g.46726117G>C | CA380265807 | F2 | c.818G>C (p.Trp273Ser) c.788G>C (p.Trp263Ser) c.770G>C (p.Trp257Ser) n.862G>C n.853G>C | |
11 | g.46726117G>T | CA380265810 | F2 | c.818G>T (p.Trp273Leu) c.788G>T (p.Trp263Leu) c.770G>T (p.Trp257Leu) n.862G>T n.853G>T | |
11 | g.46726118G>A | CA380265813 | F2 | c.819G>A (p.Trp273Ter) c.789G>A (p.Trp263Ter) c.771G>A (p.Trp257Ter) n.863G>A n.854G>A | |
11 | g.46726118G>C | CA380265817 | F2 | c.819G>C (p.Trp273Cys) c.789G>C (p.Trp263Cys) c.771G>C (p.Trp257Cys) n.863G>C n.854G>C | |
11 | g.46726118G>T | CA380265827 | F2 | c.819G>T (p.Trp273Cys) c.789G>T (p.Trp263Cys) c.771G>T (p.Trp257Cys) n.863G>T n.854G>T | |
11 | g.46726119T>A | CA380265831 | F2 | c.820T>A (p.Cys274Ser) c.790T>A (p.Cys264Ser) c.772T>A (p.Cys258Ser) n.864T>A n.855T>A | |
11 | g.46726119T>C | CA380265839 | F2 | c.820T>C (p.Cys274Arg) c.790T>C (p.Cys264Arg) c.772T>C (p.Cys258Arg) n.864T>C n.855T>C | |
11 | g.46726119T>G | CA380265843 | F2 | c.820T>G (p.Cys274Gly) c.790T>G (p.Cys264Gly) c.772T>G (p.Cys258Gly) n.864T>G n.855T>G | |
11 | g.46726120G>A | CA380265847 | F2 | c.821G>A (p.Cys274Tyr) c.791G>A (p.Cys264Tyr) c.773G>A (p.Cys258Tyr) n.865G>A n.856G>A | gnomAD v4 |
11 | g.46726120G>C | CA380265848 | F2 | c.821G>C (p.Cys274Ser) c.791G>C (p.Cys264Ser) c.773G>C (p.Cys258Ser) n.865G>C n.856G>C | |
11 | g.46726120G>T | CA380265851 | F2 | c.821G>T (p.Cys274Phe) c.791G>T (p.Cys264Phe) c.773G>T (p.Cys258Phe) n.865G>T n.856G>T | |
11 | g.46726121C>A | CA380265858 | F2 | c.822C>A (p.Cys274Ter) c.792C>A (p.Cys264Ter) c.774C>A (p.Cys258Ter) n.866C>A n.857C>A | |
11 | g.46726121C>G | CA380265856 | F2 | c.822C>G (p.Cys274Trp) c.792C>G (p.Cys264Trp) c.774C>G (p.Cys258Trp) n.866C>G n.857C>G | |
11 | g.46726121C>T | CA474043795 | F2 | c.822C>T (p.Cys274=) c.792C>T (p.Cys264=) c.774C>T (p.Cys258=) n.866C>T n.857C>T | COSMIC |
11 | g.46726122T>A | CA380265860 | F2 | c.823T>A (p.Tyr275Asn) c.793T>A (p.Tyr265Asn) c.775T>A (p.Tyr259Asn) n.867T>A n.858T>A | |
11 | g.46726122T>C | CA380265861 | F2 | c.823T>C (p.Tyr275His) c.793T>C (p.Tyr265His) c.775T>C (p.Tyr259His) n.867T>C n.858T>C | |
11 | g.46726122T>G | CA380265863 | F2 | c.823T>G (p.Tyr275Asp) c.793T>G (p.Tyr265Asp) c.775T>G (p.Tyr259Asp) n.867T>G n.858T>G | |
11 | g.46726123A>C | CA380265867 | F2 | c.824A>C (p.Tyr275Ser) c.794A>C (p.Tyr265Ser) c.776A>C (p.Tyr259Ser) n.868A>C n.859A>C | |
11 | g.46726123A>G | CA380265877 | F2 | c.824A>G (p.Tyr275Cys) c.794A>G (p.Tyr265Cys) c.776A>G (p.Tyr259Cys) n.868A>G n.859A>G | |
11 | g.46726123A>T | CA380265881 | F2 | c.824A>T (p.Tyr275Phe) c.794A>T (p.Tyr265Phe) c.776A>T (p.Tyr259Phe) n.868A>T n.859A>T | |
11 | g.46726124T>A | CA380265886 | F2 | c.825T>A (p.Tyr275Ter) c.795T>A (p.Tyr265Ter) c.777T>A (p.Tyr259Ter) n.869T>A n.860T>A | |
11 | g.46726124T>C | CA474043248 | F2 | c.825T>C (p.Tyr275=) c.795T>C (p.Tyr265=) c.777T>C (p.Tyr259=) n.869T>C n.860T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46726124T>G | CA380265889 | F2 | c.825T>G (p.Tyr275Ter) c.795T>G (p.Tyr265Ter) c.777T>G (p.Tyr259Ter) n.869T>G n.860T>G | |
11 | g.46726124T= | CA1969072253 | F2 | c.825T= (p.Tyr275=) c.795T= (p.Tyr265=) c.777T= (p.Tyr259=) n.869T= n.860T= | |
11 | g.46726125G>A | CA380265892 | F2 | c.826G>A (p.Val276Met) c.796G>A (p.Val266Met) c.778G>A (p.Val260Met) n.870G>A n.861G>A | gnomAD v4 |
11 | g.46726125G>C | CA380265896 | F2 | c.826G>C (p.Val276Leu) c.796G>C (p.Val266Leu) c.778G>C (p.Val260Leu) n.870G>C n.861G>C | |
11 | g.46726125G>T | CA380265897 | F2 | c.826G>T (p.Val276Leu) c.796G>T (p.Val266Leu) c.778G>T (p.Val260Leu) n.870G>T n.861G>T | |
11 | g.46726126T>A | CA380265915 | F2 | c.827T>A (p.Val276Glu) c.797T>A (p.Val266Glu) c.779T>A (p.Val260Glu) n.871T>A n.862T>A | |
11 | g.46726126T>C | CA380265912 | F2 | c.827T>C (p.Val276Ala) c.797T>C (p.Val266Ala) c.779T>C (p.Val260Ala) n.871T>C n.862T>C | |
11 | g.46726126T>G | CA380265900 | F2 | c.827T>G (p.Val276Gly) c.797T>G (p.Val266Gly) c.779T>G (p.Val260Gly) n.871T>G n.862T>G | |
11 | g.46726127G>A | CA474043258 | F2 | c.828G>A (p.Val276=) c.798G>A (p.Val266=) c.780G>A (p.Val260=) n.872G>A n.863G>A | |
11 | g.46726127G>C | CA474043259 | F2 | c.828G>C (p.Val276=) c.798G>C (p.Val266=) c.780G>C (p.Val260=) n.872G>C n.863G>C | |
11 | g.46726127G= | CA1969072254 | F2 | c.828G= (p.Val276=) c.798G= (p.Val266=) c.780G= (p.Val260=) n.872G= n.863G= | |
11 | g.46726127G>T | CA474043265 | F2 | c.828G>T (p.Val276=) c.798G>T (p.Val266=) c.780G>T (p.Val260=) n.872G>T n.863G>T | dbSNP |
11 | g.46726128G>A | CA380265918 | F2 | c.829G>A (p.Ala277Thr) c.799G>A (p.Ala267Thr) c.781G>A (p.Ala261Thr) n.873G>A n.864G>A | gnomAD v4 |
11 | g.46726128G>C | CA380265925 | F2 | c.829G>C (p.Ala277Pro) c.799G>C (p.Ala267Pro) c.781G>C (p.Ala261Pro) n.873G>C n.864G>C | dbSNP COSMIC |
11 | g.46726128G= | CA1969072255 | F2 | c.829G= (p.Ala277=) c.799G= (p.Ala267=) c.781G= (p.Ala261=) n.873G= n.864G= | |
11 | g.46726128G>T | CA380265928 | F2 | c.829G>T (p.Ala277Ser) c.799G>T (p.Ala267Ser) c.781G>T (p.Ala261Ser) n.873G>T n.864G>T | dbSNP COSMIC |
11 | g.46726129C>A | CA380265931 | F2 | c.830C>A (p.Ala277Asp) c.800C>A (p.Ala267Asp) c.782C>A (p.Ala261Asp) n.874C>A n.865C>A | |
11 | g.46726129C>G | CA380265934 | F2 | c.830C>G (p.Ala277Gly) c.800C>G (p.Ala267Gly) c.782C>G (p.Ala261Gly) n.874C>G n.865C>G | |
11 | g.46726129C>T | CA380265943 | F2 | c.830C>T (p.Ala277Val) c.800C>T (p.Ala267Val) c.782C>T (p.Ala261Val) n.874C>T n.865C>T | gnomAD v4 |
11 | g.46726130C>A | CA474043275 | F2 | c.831C>A (p.Ala277=) c.801C>A (p.Ala267=) c.783C>A (p.Ala261=) n.875C>A n.866C>A | |
11 | g.46726130C= | CA1969072256 | F2 | c.831C= (p.Ala277=) c.801C= (p.Ala267=) c.783C= (p.Ala261=) n.875C= n.866C= | |
11 | g.46726130C>G | CA474043278 | F2 | c.831C>G (p.Ala277=) c.801C>G (p.Ala267=) c.783C>G (p.Ala261=) n.875C>G n.866C>G | dbSNP |
11 | g.46726130C>T | CA5967058 | F2 | c.831C>T (p.Ala277=) c.801C>T (p.Ala267=) c.783C>T (p.Ala261=) n.875C>T n.866C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46726131G>A | CA5967059 | F2 | c.832G>A (p.Gly278Arg) c.802G>A (p.Gly268Arg) c.784G>A (p.Gly262Arg) n.876G>A n.867G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.46726131G>C | CA380265952 | F2 | c.832G>C (p.Gly278Arg) c.802G>C (p.Gly268Arg) c.784G>C (p.Gly262Arg) n.876G>C n.867G>C | COSMIC |
11 | g.46726131G= | CA1969072261 | F2 | c.832G= (p.Gly278=) c.802G= (p.Gly268=) c.784G= (p.Gly262=) n.876G= n.867G= | |
11 | g.46726131G>T | CA380265955 | F2 | c.832G>T (p.Gly278Trp) c.802G>T (p.Gly268Trp) c.784G>T (p.Gly262Trp) n.876G>T n.867G>T | |
11 | g.46726132G>A | CA380265959 | F2 | c.833G>A (p.Gly278Glu) c.803G>A (p.Gly268Glu) c.785G>A (p.Gly262Glu) n.877G>A n.868G>A | dbSNP gnomAD v4 COSMIC |
11 | g.46726132G>C | CA380265963 | F2 | c.833G>C (p.Gly278Ala) c.803G>C (p.Gly268Ala) c.785G>C (p.Gly262Ala) n.877G>C n.868G>C | |
11 | g.46726132G= | CA1969072263 | F2 | c.833G= (p.Gly278=) c.803G= (p.Gly268=) c.785G= (p.Gly262=) n.877G= n.868G= | |
11 | g.46726132G>T | CA380265966 | F2 | c.833G>T (p.Gly278Val) c.803G>T (p.Gly268Val) c.785G>T (p.Gly262Val) n.877G>T n.868G>T | |
11 | g.46726133G>A | CA474043287 | F2 | c.834G>A (p.Gly278=) c.804G>A (p.Gly268=) c.786G>A (p.Gly262=) n.878G>A n.869G>A | |
11 | g.46726133G>C | CA474043288 | F2 | c.834G>C (p.Gly278=) c.804G>C (p.Gly268=) c.786G>C (p.Gly262=) n.878G>C n.869G>C | |
11 | g.46726133G>T | CA474043289 | F2 | c.834G>T (p.Gly278=) c.804G>T (p.Gly268=) c.786G>T (p.Gly262=) n.878G>T n.869G>T | |
11 | g.46726134A= | CA1969072265 | F2 | c.835A= (p.Lys279=) c.805A= (p.Lys269=) c.787A= (p.Lys263=) n.879A= n.870A= | |
11 | g.46726134A>C | CA380265970 | F2 | c.835A>C (p.Lys279Gln) c.805A>C (p.Lys269Gln) c.787A>C (p.Lys263Gln) n.879A>C n.870A>C | dbSNP |
11 | g.46726134A>G | CA380265976 | F2 | c.835A>G (p.Lys279Glu) c.805A>G (p.Lys269Glu) c.787A>G (p.Lys263Glu) n.879A>G n.870A>G | |
11 | g.46726134A>T | CA380265972 | F2 | c.835A>T (p.Lys279Ter) c.805A>T (p.Lys269Ter) c.787A>T (p.Lys263Ter) n.879A>T n.870A>T | |
11 | g.46726135A>C | CA380265988 | F2 | c.836A>C (p.Lys279Thr) c.806A>C (p.Lys269Thr) c.788A>C (p.Lys263Thr) n.880A>C n.871A>C | gnomAD v4 |
11 | g.46726135A>G | CA380265991 | F2 | c.836A>G (p.Lys279Arg) c.806A>G (p.Lys269Arg) c.788A>G (p.Lys263Arg) n.880A>G n.871A>G | |
11 | g.46726135A>T | CA380265995 | F2 | c.836A>T (p.Lys279Met) c.806A>T (p.Lys269Met) c.788A>T (p.Lys263Met) n.880A>T n.871A>T | |
11 | g.46726136G>A | CA474043299 | F2 | c.837G>A (p.Lys279=) c.807G>A (p.Lys269=) c.789G>A (p.Lys263=) n.881G>A n.872G>A | |
11 | g.46726136G>C | CA380265999 | F2 | c.837G>C (p.Lys279Asn) c.807G>C (p.Lys269Asn) c.789G>C (p.Lys263Asn) n.881G>C n.872G>C | |
11 | g.46726136G>T | CA380266001 | F2 | c.837G>T (p.Lys279Asn) c.807G>T (p.Lys269Asn) c.789G>T (p.Lys263Asn) n.881G>T n.872G>T | |
11 | g.46726137C>A | CA380266004 | F2 | c.838C>A (p.Pro280Thr) c.808C>A (p.Pro270Thr) c.790C>A (p.Pro264Thr) n.882C>A n.873C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726137C= | CA1969072268 | F2 | c.838C= (p.Pro280=) c.808C= (p.Pro270=) c.790C= (p.Pro264=) n.882C= n.873C= | |
11 | g.46726137C>G | CA5967060 | F2 | c.838C>G (p.Pro280Ala) c.808C>G (p.Pro270Ala) c.790C>G (p.Pro264Ala) n.882C>G n.873C>G | dbSNP ExAC |
11 | g.46726137C>T | CA380266029 | F2 | c.838C>T (p.Pro280Ser) c.808C>T (p.Pro270Ser) c.790C>T (p.Pro264Ser) n.882C>T n.873C>T | gnomAD v4 |
11 | g.46726138C>A | CA380266035 | F2 | c.839C>A (p.Pro280His) c.809C>A (p.Pro270His) c.791C>A (p.Pro264His) n.883C>A n.874C>A | |
11 | g.46726138C>G | CA380266038 | F2 | c.839C>G (p.Pro280Arg) c.809C>G (p.Pro270Arg) c.791C>G (p.Pro264Arg) n.883C>G n.874C>G | |
11 | g.46726138C>T | CA380266048 | F2 | c.839C>T (p.Pro280Leu) c.809C>T (p.Pro270Leu) c.791C>T (p.Pro264Leu) n.883C>T n.874C>T | |
11 | g.46726139T>A | CA474043311 | F2 | c.840T>A (p.Pro280=) c.810T>A (p.Pro270=) c.792T>A (p.Pro264=) n.884T>A n.875T>A | |
11 | g.46726139T>C | CA474043310 | F2 | c.840T>C (p.Pro280=) c.810T>C (p.Pro270=) c.792T>C (p.Pro264=) n.884T>C n.875T>C | |
11 | g.46726139T>G | CA474043308 | F2 | c.840T>G (p.Pro280=) c.810T>G (p.Pro270=) c.792T>G (p.Pro264=) n.884T>G n.875T>G | |
11 | g.46726140G>A | CA221652203 | F2 | c.841G>A (p.Gly281Ser) c.811G>A (p.Gly271Ser) c.793G>A (p.Gly265Ser) n.885G>A n.876G>A | dbSNP gnomAD v4 |
11 | g.46726140G>C | CA380266057 | F2 | c.841G>C (p.Gly281Arg) c.811G>C (p.Gly271Arg) c.793G>C (p.Gly265Arg) n.885G>C n.876G>C | |
11 | g.46726140G= | CA1969072271 | F2 | c.841G= (p.Gly281=) c.811G= (p.Gly271=) c.793G= (p.Gly265=) n.885G= n.876G= | |
11 | g.46726140G>T | CA380266051 | F2 | c.841G>T (p.Gly281Cys) c.811G>T (p.Gly271Cys) c.793G>T (p.Gly265Cys) n.885G>T n.876G>T | |
11 | g.46726141G>A | CA380266066 | F2 | c.842G>A (p.Gly281Asp) c.812G>A (p.Gly271Asp) c.794G>A (p.Gly265Asp) n.886G>A n.877G>A | |
11 | g.46726141G>C | CA380266063 | F2 | c.842G>C (p.Gly281Ala) c.812G>C (p.Gly271Ala) c.794G>C (p.Gly265Ala) n.886G>C n.877G>C | |
11 | g.46726141G>T | CA380266068 | F2 | c.842G>T (p.Gly281Val) c.812G>T (p.Gly271Val) c.794G>T (p.Gly265Val) n.886G>T n.877G>T | |
11 | g.46726142C>A | CA474043331 | F2 | c.843C>A (p.Gly281=) c.813C>A (p.Gly271=) c.795C>A (p.Gly265=) n.887C>A n.878C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726142C= | CA1969072275 | F2 | c.843C= (p.Gly281=) c.813C= (p.Gly271=) c.795C= (p.Gly265=) n.887C= n.878C= | |
11 | g.46726142C>G | CA474043333 | F2 | c.843C>G (p.Gly281=) c.813C>G (p.Gly271=) c.795C>G (p.Gly265=) n.887C>G n.878C>G | |
11 | g.46726142C>T | CA5967061 | F2 | c.843C>T (p.Gly281=) c.813C>T (p.Gly271=) c.795C>T (p.Gly265=) n.887C>T n.878C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726143G>A | CA5967062 | F2 | c.844G>A (p.Asp282Asn) c.814G>A (p.Asp272Asn) c.796G>A (p.Asp266Asn) n.888G>A n.879G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726143G>C | CA380266077 | F2 | c.844G>C (p.Asp282His) c.814G>C (p.Asp272His) c.796G>C (p.Asp266His) n.888G>C n.879G>C | dbSNP gnomAD v4 |
11 | g.46726143G= | CA1969072278 | F2 | c.844G= (p.Asp282=) c.814G= (p.Asp272=) c.796G= (p.Asp266=) n.888G= n.879G= | |
11 | g.46726143G>T | CA380266092 | F2 | c.844G>T (p.Asp282Tyr) c.814G>T (p.Asp272Tyr) c.796G>T (p.Asp266Tyr) n.888G>T n.879G>T | gnomAD v4 |
11 | g.46726144A= | CA1969072281 | F2 | c.845A= (p.Asp282=) c.815A= (p.Asp272=) c.797A= (p.Asp266=) n.889A= n.880A= | |
11 | g.46726144A>C | CA380266095 | F2 | c.845A>C (p.Asp282Ala) c.815A>C (p.Asp272Ala) c.797A>C (p.Asp266Ala) n.889A>C n.880A>C | |
11 | g.46726144A>G | CA380266097 | F2 | c.845A>G (p.Asp282Gly) c.815A>G (p.Asp272Gly) c.797A>G (p.Asp266Gly) n.889A>G n.880A>G | |
11 | g.46726144A>T | CA221652231 | F2 | c.845A>T (p.Asp282Val) c.815A>T (p.Asp272Val) c.797A>T (p.Asp266Val) n.889A>T n.880A>T | dbSNP |
11 | g.46726145C>A | CA380266109 | F2 | c.846C>A (p.Asp282Glu) c.816C>A (p.Asp272Glu) c.798C>A (p.Asp266Glu) n.890C>A n.881C>A | |
11 | g.46726145C= | CA1969072286 | F2 | c.846C= (p.Asp282=) c.816C= (p.Asp272=) c.798C= (p.Asp266=) n.890C= n.881C= | |
11 | g.46726145C>G | CA380266113 | F2 | c.846C>G (p.Asp282Glu) c.816C>G (p.Asp272Glu) c.798C>G (p.Asp266Glu) n.890C>G n.881C>G | |
11 | g.46726145C>T | CA5967063 | F2 | c.846C>T (p.Asp282=) c.816C>T (p.Asp272=) c.798C>T (p.Asp266=) n.890C>T n.881C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46726146T>A | CA380266117 | F2 | c.847T>A (p.Phe283Ile) c.817T>A (p.Phe273Ile) c.799T>A (p.Phe267Ile) n.891T>A n.882T>A | |
11 | g.46726146T>C | CA380266120 | F2 | c.847T>C (p.Phe283Leu) c.817T>C (p.Phe273Leu) c.799T>C (p.Phe267Leu) n.891T>C n.882T>C | |
11 | g.46726146T>G | CA380266121 | F2 | c.847T>G (p.Phe283Val) c.817T>G (p.Phe273Val) c.799T>G (p.Phe267Val) n.891T>G n.882T>G | |
11 | g.46726147T>A | CA380266123 | F2 | c.848T>A (p.Phe283Tyr) c.818T>A (p.Phe273Tyr) c.800T>A (p.Phe267Tyr) n.892T>A n.883T>A | |
11 | g.46726147T>C | CA380266127 | F2 | c.848T>C (p.Phe283Ser) c.818T>C (p.Phe273Ser) c.800T>C (p.Phe267Ser) n.892T>C n.883T>C | dbSNP gnomAD v4 |
11 | g.46726147T>G | CA380266128 | F2 | c.848T>G (p.Phe283Cys) c.818T>G (p.Phe273Cys) c.800T>G (p.Phe267Cys) n.892T>G n.883T>G | |
11 | g.46726147T= | CA1969072292 | F2 | c.848T= (p.Phe283=) c.818T= (p.Phe273=) c.800T= (p.Phe267=) n.892T= n.883T= | |
11 | g.46726148T>A | CA380266132 | F2 | c.849T>A (p.Phe283Leu) c.819T>A (p.Phe273Leu) c.801T>A (p.Phe267Leu) n.893T>A n.884T>A | |
11 | g.46726148T>C | CA221652241 | F2 | c.849T>C (p.Phe283=) c.819T>C (p.Phe273=) c.801T>C (p.Phe267=) n.893T>C n.884T>C | dbSNP gnomAD v4 |
11 | g.46726148T>G | CA380266134 | F2 | c.849T>G (p.Phe283Leu) c.819T>G (p.Phe273Leu) c.801T>G (p.Phe267Leu) n.893T>G n.884T>G | gnomAD v4 |
11 | g.46726148T= | CA1969072294 | F2 | c.849T= (p.Phe283=) c.819T= (p.Phe273=) c.801T= (p.Phe267=) n.893T= n.884T= | |
11 | g.46726148_46726149delinsTG | CA1969072296 | F2 | c.849_850delinsTG (p.Phe283=) c.819_820delinsTG (p.Phe273=) c.801_802delinsTG (p.Phe267=) n.893_894delinsTG n.884_885delinsTG | |
11 | g.46726149G>A | CA380266139 | F2 | c.850G>A (p.Gly284Arg) c.820G>A (p.Gly274Arg) c.802G>A (p.Gly268Arg) n.894G>A n.885G>A | |
11 | g.46726149G>C | CA380266141 | F2 | c.850G>C (p.Gly284Arg) c.820G>C (p.Gly274Arg) c.802G>C (p.Gly268Arg) n.894G>C n.885G>C | |
11 | g.46726149G>T | CA380266143 | F2 | c.850G>T (p.Gly284Trp) c.820G>T (p.Gly274Trp) c.802G>T (p.Gly268Trp) n.894G>T n.885G>T | |
11 | g.46726151del | CA5967064 | F2 | c.852del (p.Tyr285ThrfsTer?) c.822del (p.Tyr275ThrfsTer?) c.804del (p.Tyr269ThrfsTer?) n.896del n.887del | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726150G>A | CA380266149 | F2 | c.851G>A (p.Gly284Glu) c.821G>A (p.Gly274Glu) c.803G>A (p.Gly268Glu) n.895G>A n.886G>A | dbSNP |
11 | g.46726150G>C | CA380266151 | F2 | c.851G>C (p.Gly284Ala) c.821G>C (p.Gly274Ala) c.803G>C (p.Gly268Ala) n.895G>C n.886G>C | |
11 | g.46726150G= | CA1969072297 | F2 | c.851G= (p.Gly284=) c.821G= (p.Gly274=) c.803G= (p.Gly268=) n.895G= n.886G= | |
11 | g.46726150G>T | CA380266153 | F2 | c.851G>T (p.Gly284Val) c.821G>T (p.Gly274Val) c.803G>T (p.Gly268Val) n.895G>T n.886G>T | |
11 | g.46726151G>A | CA474043374 | F2 | c.852G>A (p.Gly284=) c.822G>A (p.Gly274=) c.804G>A (p.Gly268=) n.896G>A n.887G>A | dbSNP |
11 | g.46726151G>C | CA474043378 | F2 | c.852G>C (p.Gly284=) c.822G>C (p.Gly274=) c.804G>C (p.Gly268=) n.896G>C n.887G>C | |
11 | g.46726151G= | CA1969072300 | F2 | c.852G= (p.Gly284=) c.822G= (p.Gly274=) c.804G= (p.Gly268=) n.896G= n.887G= | |
11 | g.46726151G>T | CA474043380 | F2 | c.852G>T (p.Gly284=) c.822G>T (p.Gly274=) c.804G>T (p.Gly268=) n.896G>T n.887G>T | |
11 | g.46726152T>A | CA380266157 | F2 | c.853T>A (p.Tyr285Asn) c.823T>A (p.Tyr275Asn) c.805T>A (p.Tyr269Asn) n.897T>A n.888T>A | |
11 | g.46726152T>C | CA380266158 | F2 | c.853T>C (p.Tyr285His) c.823T>C (p.Tyr275His) c.805T>C (p.Tyr269His) n.897T>C n.888T>C | |
11 | g.46726152T>G | CA380266161 | F2 | c.853T>G (p.Tyr285Asp) c.823T>G (p.Tyr275Asp) c.805T>G (p.Tyr269Asp) n.897T>G n.888T>G | |
11 | g.46726153A>C | CA380266166 | F2 | c.854A>C (p.Tyr285Ser) c.824A>C (p.Tyr275Ser) c.806A>C (p.Tyr269Ser) n.898A>C n.889A>C | |
11 | g.46726153A>G | CA380266168 | F2 | c.854A>G (p.Tyr285Cys) c.824A>G (p.Tyr275Cys) c.806A>G (p.Tyr269Cys) n.898A>G n.889A>G | |
11 | g.46726153A>T | CA380266164 | F2 | c.854A>T (p.Tyr285Phe) c.824A>T (p.Tyr275Phe) c.806A>T (p.Tyr269Phe) n.898A>T n.889A>T | |
11 | g.46726154C>A | CA380266171 | F2 | c.855C>A (p.Tyr285Ter) c.825C>A (p.Tyr275Ter) c.807C>A (p.Tyr269Ter) n.899C>A n.890C>A | |
11 | g.46726154C>G | CA380266172 | F2 | c.855C>G (p.Tyr285Ter) c.825C>G (p.Tyr275Ter) c.807C>G (p.Tyr269Ter) n.899C>G n.890C>G | |
11 | g.46726154C>T | CA474043385 | F2 | c.855C>T (p.Tyr285=) c.825C>T (p.Tyr275=) c.807C>T (p.Tyr269=) n.899C>T n.890C>T | |
11 | g.46726155T>A | CA380266173 | F2 | c.856T>A (p.Cys286Ser) c.826T>A (p.Cys276Ser) c.808T>A (p.Cys270Ser) n.900T>A n.891T>A | |
11 | g.46726155T>C | CA380266175 | F2 | c.856T>C (p.Cys286Arg) c.826T>C (p.Cys276Arg) c.808T>C (p.Cys270Arg) n.900T>C n.891T>C | |
11 | g.46726155T>G | CA380266177 | F2 | c.856T>G (p.Cys286Gly) c.826T>G (p.Cys276Gly) c.808T>G (p.Cys270Gly) n.900T>G n.891T>G | |
11 | g.46726156G>A | CA380266179 | F2 | c.857G>A (p.Cys286Tyr) c.827G>A (p.Cys276Tyr) c.809G>A (p.Cys270Tyr) n.901G>A n.892G>A | dbSNP |
11 | g.46726156G>C | CA380266181 | F2 | c.857G>C (p.Cys286Ser) c.827G>C (p.Cys276Ser) c.809G>C (p.Cys270Ser) n.901G>C n.892G>C | |
11 | g.46726156G= | CA1969072301 | F2 | c.857G= (p.Cys286=) c.827G= (p.Cys276=) c.809G= (p.Cys270=) n.901G= n.892G= | |
11 | g.46726156G>T | CA380266182 | F2 | c.857G>T (p.Cys286Phe) c.827G>T (p.Cys276Phe) c.809G>T (p.Cys270Phe) n.901G>T n.892G>T | |
11 | g.46726157C>A | CA380266184 | F2 | c.858C>A (p.Cys286Ter) c.828C>A (p.Cys276Ter) c.810C>A (p.Cys270Ter) n.902C>A n.893C>A | dbSNP |
11 | g.46726157C= | CA1969072306 | F2 | c.858C= (p.Cys286=) c.828C= (p.Cys276=) c.810C= (p.Cys270=) n.902C= n.893C= | |
11 | g.46726157C>G | CA380266186 | F2 | c.858C>G (p.Cys286Trp) c.828C>G (p.Cys276Trp) c.810C>G (p.Cys270Trp) n.902C>G n.893C>G | |
11 | g.46726157C>T | CA5967065 | F2 | c.858C>T (p.Cys286=) c.828C>T (p.Cys276=) c.810C>T (p.Cys270=) n.902C>T n.893C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726158G>A | CA5967066 | F2 | c.859G>A (p.Asp287Asn) c.829G>A (p.Asp277Asn) c.811G>A (p.Asp271Asn) n.903G>A n.894G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.46726158G>C | CA380266192 | F2 | c.859G>C (p.Asp287His) c.829G>C (p.Asp277His) c.811G>C (p.Asp271His) n.903G>C n.894G>C | |
11 | g.46726158G= | CA1969072309 | F2 | c.859G= (p.Asp287=) c.829G= (p.Asp277=) c.811G= (p.Asp271=) n.903G= n.894G= | |
11 | g.46726158G>T | CA380266189 | F2 | c.859G>T (p.Asp287Tyr) c.829G>T (p.Asp277Tyr) c.811G>T (p.Asp271Tyr) n.903G>T n.894G>T | gnomAD v4 |
11 | g.46726159A>C | CA380266194 | F2 | c.860A>C (p.Asp287Ala) c.830A>C (p.Asp277Ala) c.812A>C (p.Asp271Ala) n.904A>C n.895A>C | |
11 | g.46726159A>G | CA380266195 | F2 | c.860A>G (p.Asp287Gly) c.830A>G (p.Asp277Gly) c.812A>G (p.Asp271Gly) n.904A>G n.895A>G | |
11 | g.46726159A>T | CA380266197 | F2 | c.860A>T (p.Asp287Val) c.830A>T (p.Asp277Val) c.812A>T (p.Asp271Val) n.904A>T n.895A>T | |
11 | g.46726160C>A | CA380266199 | F2 | c.861C>A (p.Asp287Glu) c.831C>A (p.Asp277Glu) c.813C>A (p.Asp271Glu) n.905C>A n.896C>A | gnomAD v4 COSMIC |
11 | g.46726160C>G | CA380266201 | F2 | c.861C>G (p.Asp287Glu) c.831C>G (p.Asp277Glu) c.813C>G (p.Asp271Glu) n.905C>G n.896C>G | |
11 | g.46726160C>T | CA474043412 | F2 | c.861C>T (p.Asp287=) c.831C>T (p.Asp277=) c.813C>T (p.Asp271=) n.905C>T n.896C>T | gnomAD v4 |
11 | g.46726161C>A | CA380266206 | F2 | c.862C>A (p.Leu288Ile) c.832C>A (p.Leu278Ile) c.814C>A (p.Leu272Ile) n.906C>A n.897C>A | |
11 | g.46726161C= | CA1969072311 | F2 | c.862C= (p.Leu288=) c.832C= (p.Leu278=) c.814C= (p.Leu272=) n.906C= n.897C= | |
11 | g.46726161C>G | CA380266203 | F2 | c.862C>G (p.Leu288Val) c.832C>G (p.Leu278Val) c.814C>G (p.Leu272Val) n.906C>G n.897C>G | gnomAD v4 |
11 | g.46726161C>T | CA380266204 | F2 | c.862C>T (p.Leu288Phe) c.832C>T (p.Leu278Phe) c.814C>T (p.Leu272Phe) n.906C>T n.897C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726162T>A | CA380266209 | F2 | c.863T>A (p.Leu288His) c.833T>A (p.Leu278His) c.815T>A (p.Leu272His) n.907T>A n.898T>A | |
11 | g.46726162T>C | CA5967067 | F2 | c.863T>C (p.Leu288Pro) c.833T>C (p.Leu278Pro) c.815T>C (p.Leu272Pro) n.907T>C n.898T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726162T>G | CA380266215 | F2 | c.863T>G (p.Leu288Arg) c.833T>G (p.Leu278Arg) c.815T>G (p.Leu272Arg) n.907T>G n.898T>G | |
11 | g.46726162T= | CA1969072314 | F2 | c.863T= (p.Leu288=) c.833T= (p.Leu278=) c.815T= (p.Leu272=) n.907T= n.898T= | |
11 | g.46726163C>A | CA474043422 | F2 | c.864C>A (p.Leu288=) c.834C>A (p.Leu278=) c.816C>A (p.Leu272=) n.908C>A n.899C>A | |
11 | g.46726163C= | CA1969072317 | F2 | c.864C= (p.Leu288=) c.834C= (p.Leu278=) c.816C= (p.Leu272=) n.908C= n.899C= | |
11 | g.46726163C>G | CA474043425 | F2 | c.864C>G (p.Leu288=) c.834C>G (p.Leu278=) c.816C>G (p.Leu272=) n.908C>G n.899C>G | |
11 | g.46726163C>T | CA474043423 | F2 | c.864C>T (p.Leu288=) c.834C>T (p.Leu278=) c.816C>T (p.Leu272=) n.908C>T n.899C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.46726164A>C | CA380266216 | F2 | c.865A>C (p.Asn289His) c.835A>C (p.Asn279His) c.817A>C (p.Asn273His) n.909A>C n.900A>C | |
11 | g.46726164A>G | CA380266217 | F2 | c.865A>G (p.Asn289Asp) c.835A>G (p.Asn279Asp) c.817A>G (p.Asn273Asp) n.909A>G n.900A>G | |
11 | g.46726164A>T | CA380266218 | F2 | c.865A>T (p.Asn289Tyr) c.835A>T (p.Asn279Tyr) c.817A>T (p.Asn273Tyr) n.909A>T n.900A>T | |
11 | g.46726165A= | CA1969072321 | F2 | c.866A= (p.Asn289=) c.836A= (p.Asn279=) c.818A= (p.Asn273=) n.910A= n.901A= | |
11 | g.46726165A>C | CA380266220 | F2 | c.866A>C (p.Asn289Thr) c.836A>C (p.Asn279Thr) c.818A>C (p.Asn273Thr) n.910A>C n.901A>C | |
11 | g.46726165A>G | CA380266221 | F2 | c.866A>G (p.Asn289Ser) c.836A>G (p.Asn279Ser) c.818A>G (p.Asn273Ser) n.910A>G n.901A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.46726165A>T | CA380266219 | F2 | c.866A>T (p.Asn289Ile) c.836A>T (p.Asn279Ile) c.818A>T (p.Asn273Ile) n.910A>T n.901A>T | |
11 | g.46726166C>A | CA380266223 | F2 | c.867C>A (p.Asn289Lys) c.837C>A (p.Asn279Lys) c.819C>A (p.Asn273Lys) n.911C>A n.902C>A | |
11 | g.46726166C= | CA1969072327 | F2 | c.867C= (p.Asn289=) c.837C= (p.Asn279=) c.819C= (p.Asn273=) n.911C= n.902C= | |
11 | g.46726166C>G | CA380266222 | F2 | c.867C>G (p.Asn289Lys) c.837C>G (p.Asn279Lys) c.819C>G (p.Asn273Lys) n.911C>G n.902C>G | |
11 | g.46726166C>T | CA474043446 | F2 | c.867C>T (p.Asn289=) c.837C>T (p.Asn279=) c.819C>T (p.Asn273=) n.911C>T n.902C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.46726167T>A | CA380266224 | F2 | c.868T>A (p.Tyr290Asn) c.838T>A (p.Tyr280Asn) c.820T>A (p.Tyr274Asn) n.912T>A n.903T>A | |
11 | g.46726167T>C | CA380266225 | F2 | c.868T>C (p.Tyr290His) c.838T>C (p.Tyr280His) c.820T>C (p.Tyr274His) n.912T>C n.903T>C | |
11 | g.46726167T>G | CA380266226 | F2 | c.868T>G (p.Tyr290Asp) c.838T>G (p.Tyr280Asp) c.820T>G (p.Tyr274Asp) n.912T>G n.903T>G | |
11 | g.46726168A= | CA1969072329 | F2 | c.869A= (p.Tyr290=) c.839A= (p.Tyr280=) c.821A= (p.Tyr274=) n.913A= n.904A= | |
11 | g.46726168A>C | CA380266227 | F2 | c.869A>C (p.Tyr290Ser) c.839A>C (p.Tyr280Ser) c.821A>C (p.Tyr274Ser) n.913A>C n.904A>C | |
11 | g.46726168A>G | CA5967068 | F2 | c.869A>G (p.Tyr290Cys) c.839A>G (p.Tyr280Cys) c.821A>G (p.Tyr274Cys) n.913A>G n.904A>G | dbSNP ExAC gnomAD v2 COSMIC |
11 | g.46726168A>T | CA380266228 | F2 | c.869A>T (p.Tyr290Phe) c.839A>T (p.Tyr280Phe) c.821A>T (p.Tyr274Phe) n.913A>T n.904A>T | |
11 | g.46726169T>A | CA380266229 | F2 | c.870T>A (p.Tyr290Ter) c.840T>A (p.Tyr280Ter) c.822T>A (p.Tyr274Ter) n.914T>A n.905T>A | |
11 | g.46726169T>C | CA5967069 | F2 | c.870T>C (p.Tyr290=) c.840T>C (p.Tyr280=) c.822T>C (p.Tyr274=) n.914T>C n.905T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726169T>G | CA380266230 | F2 | c.870T>G (p.Tyr290Ter) c.840T>G (p.Tyr280Ter) c.822T>G (p.Tyr274Ter) n.914T>G n.905T>G | |
11 | g.46726169T= | CA1969072333 | F2 | c.870T= (p.Tyr290=) c.840T= (p.Tyr280=) c.822T= (p.Tyr274=) n.914T= n.905T= | |
11 | g.46726170T>A | CA380266231 | F2 | c.871T>A (p.Cys291Ser) c.841T>A (p.Cys281Ser) c.823T>A (p.Cys275Ser) n.915T>A n.906T>A | |
11 | g.46726170T>C | CA380266232 | F2 | c.871T>C (p.Cys291Arg) c.841T>C (p.Cys281Arg) c.823T>C (p.Cys275Arg) n.915T>C n.906T>C | |
11 | g.46726170T>G | CA380266233 | F2 | c.871T>G (p.Cys291Gly) c.841T>G (p.Cys281Gly) c.823T>G (p.Cys275Gly) n.915T>G n.906T>G | |
11 | g.46726170_46726173delinsTGTG | CA1969072336 | F2 | c.871_874delinsTGTG (p.Cys291=) c.841_844delinsTGTG (p.Cys281=) c.823_826delinsTGTG (p.Cys275=) n.915_918delinsTGTG n.906_909delinsTGTG | |
11 | g.46726171G>A | CA380266236 | F2 | c.872G>A (p.Cys291Tyr) c.842G>A (p.Cys281Tyr) c.824G>A (p.Cys275Tyr) n.916G>A n.907G>A | |
11 | g.46726171G>C | CA380266234 | F2 | c.872G>C (p.Cys291Ser) c.842G>C (p.Cys281Ser) c.824G>C (p.Cys275Ser) n.916G>C n.907G>C | |
11 | g.46726171G>T | CA380266235 | F2 | c.872G>T (p.Cys291Phe) c.842G>T (p.Cys281Phe) c.824G>T (p.Cys275Phe) n.916G>T n.907G>T | |
11 | g.46726174_46726176del | CA937604100 | F2 | c.874+1_874+3del c.844+1_844+3del c.826+1_826+3del n.918+1_918+3del n.909+1_909+3del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.46726172T>A | CA380266237 | F2 | c.873T>A (p.Cys291Ter) c.843T>A (p.Cys281Ter) c.825T>A (p.Cys275Ter) n.917T>A n.908T>A | |
11 | g.46726172T>C | CA474043471 | F2 | c.873T>C (p.Cys291=) c.843T>C (p.Cys281=) c.825T>C (p.Cys275=) n.917T>C n.908T>C | |
11 | g.46726172T>G | CA380266238 | F2 | c.873T>G (p.Cys291Trp) c.843T>G (p.Cys281Trp) c.825T>G (p.Cys275Trp) n.917T>G n.908T>G | |
11 | g.46726173G>A | CA380266239 | F2 | c.874G>A (p.Glu292Lys) c.844G>A (p.Glu282Lys) c.826G>A (p.Glu276Lys) n.918G>A n.909G>A | COSMIC |
11 | g.46726173G>C | CA380266240 | F2 | c.874G>C (p.Glu292Gln) c.844G>C (p.Glu282Gln) c.826G>C (p.Glu276Gln) n.918G>C n.909G>C | |
11 | g.46726173G= | CA1969072342 | F2 | c.874G= (p.Glu292=) c.844G= (p.Glu282=) c.826G= (p.Glu276=) n.918G= n.909G= | |
11 | g.46726173G>T | CA380266241 | F2 | c.874G>T (p.Glu292Ter) c.844G>T (p.Glu282Ter) c.826G>T (p.Glu276Ter) n.918G>T n.909G>T | |
11 | g.46726173_46726174insTTGGGT | CA2791314663 | F2 | c.874_874+1insTTGGGT (n.874_874+1insTTGGGT) c.844_844+1insTTGGGT (n.844_844+1insTTGGGT) c.826_826+1insTTGGGT (n.826_826+1insTTGGGT) n.918_918+1insTTGGGT n.909_909+1insTTGGGT | |
11 | g.46726173_46726174insAGGAGGCC | CA5967070 | F2 | c.874_874+1insAGGAGGCC (n.874_874+1insAGGAGGCC) c.844_844+1insAGGAGGCC (n.844_844+1insAGGAGGCC) c.826_826+1insAGGAGGCC (n.826_826+1insAGGAGGCC) n.918_918+1insAGGAGGCC n.909_909+1insAGGAGGCC | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726174G>A | CA380266242 | F2 | c.874+1G>A (n.874+1G>A) c.844+1G>A (n.844+1G>A) c.826+1G>A (n.826+1G>A) n.918+1G>A n.909+1G>A | dbSNP gnomAD v4 |
11 | g.46726174G>C | CA380266243 | F2 | c.874+1G>C (n.874+1G>C) c.844+1G>C (n.844+1G>C) c.826+1G>C (n.826+1G>C) n.918+1G>C n.909+1G>C | |
11 | g.46726174G= | CA1969072345 | F2 | c.874+1G= (n.874+1G=) c.844+1G= (n.844+1G=) c.826+1G= (n.826+1G=) n.918+1G= n.909+1G= | |
11 | g.46726174G>T | CA380266244 | F2 | c.874+1G>T (n.874+1G>T) c.844+1G>T (n.844+1G>T) c.826+1G>T (n.826+1G>T) n.918+1G>T n.909+1G>T | |
11 | g.46726175T>A | CA380266245 | F2 | c.874+2T>A (n.874+2T>A) c.844+2T>A (n.844+2T>A) c.826+2T>A (n.826+2T>A) n.918+2T>A n.909+2T>A | |
11 | g.46726175T>C | CA380266247 | F2 | c.874+2T>C (n.874+2T>C) c.844+2T>C (n.844+2T>C) c.826+2T>C (n.826+2T>C) n.918+2T>C n.909+2T>C | |
11 | g.46726175T>G | CA380266248 | F2 | c.874+2T>G (n.874+2T>G) c.844+2T>G (n.844+2T>G) c.826+2T>G (n.826+2T>G) n.918+2T>G n.909+2T>G | gnomAD v4 |
11 | g.46726175T= | CA1969072349 | F2 | c.874+2T= (n.874+2T=) c.844+2T= (n.844+2T=) c.826+2T= (n.826+2T=) n.918+2T= n.909+2T= | |
11 | g.46726176G>A | CA2613334738 | F2 | c.874+3G>A (n.874+3G>A) c.844+3G>A (n.844+3G>A) c.826+3G>A (n.826+3G>A) n.918+3G>A n.909+3G>A | gnomAD v4 |
11 | g.46726176_46726177insGAGGAGGAGACAGG | CA5967072 | F2 | c.874+3_874+4insGAGGAGGAGACAGG (n.874+3_874+4insGAGGAGGAGACAGG) c.844+3_844+4insGAGGAGGAGACAGG (n.844+3_844+4insGAGGAGGAGACAGG) c.826+3_826+4insGAGGAGGAGACAGG (n.826+3_826+4insGAGGAGGAGACAGG) n.918+3_918+4insGAGGAGGAGACAGG n.909+3_909+4insGAGGAGGAGACAGG | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726176dup | CA5967071 | F2 | c.874+3dup (n.874+3dup) c.844+3dup (n.844+3dup) c.826+3dup (n.826+3dup) n.918+3dup n.909+3dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726177A= | CA1969072352 | F2 | c.874+4A= (n.874+4A=) c.844+4A= (n.844+4A=) c.826+4A= (n.826+4A=) n.918+4A= n.909+4A= | |
11 | g.46726178G= | CA1969072354 | F2 | c.874+5G= (n.874+5G=) c.844+5G= (n.844+5G=) c.826+5G= (n.826+5G=) n.918+5G= n.909+5G= | |
11 | g.46726178_46726179insGAGGAGACAGGAGATGGG | CA5967073 | F2 | c.874+5_874+6insGAGGAGACAGGAGATGGG (n.874+5_874+6insGAGGAGACAGGAGATGGG) c.844+5_844+6insGAGGAGACAGGAGATGGG (n.844+5_844+6insGAGGAGACAGGAGATGGG) c.826+5_826+6insGAGGAGACAGGAGATGGG (n.826+5_826+6insGAGGAGACAGGAGATGGG) n.918+5_918+6insGAGGAGACAGGAGATGGG n.909+5_909+6insGAGGAGACAGGAGATGGG | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726178_46726179insGAGGAGACAGGAGATGGGCTGGATGAGGA | CA5967075 | F2 | c.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGA (n.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGA) c.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGA (n.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGA) c.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGA (n.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGA) n.918+5_918+6insGAGGAGACAGGAGATGGGCTGGATGAGGA n.909+5_909+6insGAGGAGACAGGAGATGGGCTGGATGAGGA | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726178_46726179insGAGGAGACAGGAGATGGGCTGGATGAGGACT | CA5967076 | F2 | c.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT (n.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT) c.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT (n.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT) c.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT (n.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT) n.918+5_918+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT n.909+5_909+6insGAGGAGACAGGAGATGGGCTGGATGAGGACT | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726178_46726179insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA | CA5967074 | F2 | c.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA (n.874+5_874+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA) c.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA (n.844+5_844+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA) c.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA (n.826+5_826+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA) n.918+5_918+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA n.909+5_909+6insGAGGAGACAGGAGATGGGCTGGATGAGGACTCAGA | dbSNP ExAC gnomAD v2 |
11 | g.46726179C>A | CA5967077 | F2 | c.874+6C>A (n.874+6C>A) c.844+6C>A (n.844+6C>A) c.826+6C>A (n.826+6C>A) n.918+6C>A n.909+6C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726179C= | CA1969072360 | F2 | c.874+6C= (n.874+6C=) c.844+6C= (n.844+6C=) c.826+6C= (n.826+6C=) n.918+6C= n.909+6C= | |
11 | g.46726179C>T | CA599372328 | F2 | c.874+6C>T (n.874+6C>T) c.844+6C>T (n.844+6C>T) c.826+6C>T (n.826+6C>T) n.918+6C>T n.909+6C>T | dbSNP gnomAD v2 |
11 | g.46726179_46726180del | CA2613334745 | F2 | c.874+6_874+7del (n.874+6_874+7del) c.844+6_844+7del (n.844+6_844+7del) c.826+6_826+7del (n.826+6_826+7del) n.918+6_918+7del n.909+6_909+7del | gnomAD v4 |
11 | g.46726180T>C | CA2613334749 | F2 | c.874+7T>C (n.874+7T>C) c.844+7T>C (n.844+7T>C) c.826+7T>C (n.826+7T>C) n.918+7T>C n.909+7T>C | gnomAD v4 |
11 | g.46726180T= | CA1969072365 | F2 | c.874+7T= (n.874+7T=) c.844+7T= (n.844+7T=) c.826+7T= (n.826+7T=) n.918+7T= n.909+7T= | |
11 | g.46726180_46726193delinsTGCCTGGGTAGGGG | CA1969072366 | F2 | c.874+7_874+20delinsTGCCTGGGTAGGGG (n.874+7_874+20delinsTGCCTGGGTAGGGG) c.844+7_844+20delinsTGCCTGGGTAGGGG (n.844+7_844+20delinsTGCCTGGGTAGGGG) c.826+7_826+20delinsTGCCTGGGTAGGGG (n.826+7_826+20delinsTGCCTGGGTAGGGG) n.918+7_918+20delinsTGCCTGGGTAGGGG n.909+7_909+20delinsTGCCTGGGTAGGGG |