Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50905336_50905338delCA2624828822PYGLc.*57_*59del (n.*57_*59del)
c.2379+2936_2379+2938del (n.2379+2936_2379+2938del)
 gnomAD v4
14g.50905337G>TCA656114623PYGLc.*55C>A (n.*55C>A)
c.2379+2934C>A (n.2379+2934C>A)
 gnomAD v4 COSMIC
14g.50905338T>CCA2136411080PYGLc.*54A>G (n.*54A>G)
c.2379+2933A>G (n.2379+2933A>G)
 dbSNP gnomAD v4
14g.50905338T=CA2136411079PYGLc.*54A= (n.*54A=)
c.2379+2933A= (n.2379+2933A=)
14g.50905343delCA2624828830PYGLc.*53del (n.*53del)
c.2379+2932del (n.2379+2932del)
 gnomAD v4
14g.50905342A=CA2136411081PYGLc.*50T= (n.*50T=)
c.2379+2929T= (n.2379+2929T=)
14g.50905342A>CCA2136411082PYGLc.*50T>G (n.*50T>G)
c.2379+2929T>G (n.2379+2929T>G)
 dbSNP gnomAD v4
14g.50905343A>TCA2624828831PYGLc.*49T>A (n.*49T>A)
c.2379+2928T>A (n.2379+2928T>A)
 gnomAD v4
14g.50905345G>ACA614275195PYGLc.*47C>T (n.*47C>T)
c.2379+2926C>T (n.2379+2926C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.50905345G=CA2136411083PYGLc.*47C= (n.*47C=)
c.2379+2926C= (n.2379+2926C=)
14g.50905345G>TCA2624828833PYGLc.*47C>A (n.*47C>A)
c.2379+2926C>A (n.2379+2926C>A)
 gnomAD v4
14g.50905347T>ACA2624828835PYGLc.*45A>T (n.*45A>T)
c.2379+2924A>T (n.2379+2924A>T)
 gnomAD v4
14g.50905348C>ACA2624828837PYGLc.*44G>T (n.*44G>T)
c.2379+2923G>T (n.2379+2923G>T)
 gnomAD v4
14g.50905348C>GCA2801553803PYGLc.*44G>C (n.*44G>C)
c.2379+2923G>C (n.2379+2923G>C)
14g.50905349A>GCA2575525106PYGLc.*43T>C (n.*43T>C)
c.2379+2922T>C (n.2379+2922T>C)
14g.50905351G>CCA2624828838PYGLc.*41C>G (n.*41C>G)
c.2379+2920C>G (n.2379+2920C>G)
 gnomAD v4
14g.50905351G=CA2136411085PYGLc.*41C= (n.*41C=)
c.2379+2920C= (n.2379+2920C=)
14g.50905351G>TCA2624828839PYGLc.*41C>A (n.*41C>A)
c.2379+2920C>A (n.2379+2920C>A)
 gnomAD v4
14g.50905353dupCA260818734PYGLc.*40dup (n.*40dup)
c.2379+2919dup (n.2379+2919dup)
 dbSNP
14g.50905353T>CCA2624828841PYGLc.*39A>G (n.*39A>G)
c.2379+2918A>G (n.2379+2918A>G)
 gnomAD v4
14g.50905353T>GCA7183077PYGLc.*39A>C (n.*39A>C)
c.2379+2918A>C (n.2379+2918A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905353T=CA2136411087PYGLc.*39A= (n.*39A=)
c.2379+2918A= (n.2379+2918A=)
14g.50905354C>ACA2624828842PYGLc.*38G>T (n.*38G>T)
c.2379+2917G>T (n.2379+2917G>T)
 gnomAD v4
14g.50905355A=CA2136411090PYGLc.*37T= (n.*37T=)
c.2379+2916T= (n.2379+2916T=)
14g.50905355A>GCA2624828844PYGLc.*37T>C (n.*37T>C)
c.2379+2916T>C (n.2379+2916T>C)
 gnomAD v4
14g.50905355A>TCA963068391PYGLc.*37T>A (n.*37T>A)
c.2379+2916T>A (n.2379+2916T>A)
 dbSNP gnomAD v3 gnomAD v4
14g.50905357T>CCA963068393PYGLc.*35A>G (n.*35A>G)
c.2379+2914A>G (n.2379+2914A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.50905357T=CA2136411092PYGLc.*35A= (n.*35A=)
c.2379+2914A= (n.2379+2914A=)
14g.50905358A=CA2136411093PYGLc.*34T= (n.*34T=)
c.2379+2913T= (n.2379+2913T=)
14g.50905358A>GCA2136411095PYGLc.*34T>C (n.*34T>C)
c.2379+2913T>C (n.2379+2913T>C)
 dbSNP
14g.50905359delCA2801553804PYGLc.*34del (n.*34del)
c.2379+2913del (n.2379+2913del)
14g.50905362A=CA2136411099PYGLc.*30T= (n.*30T=)
c.2379+2909T= (n.2379+2909T=)
14g.50905362A>TCA614275196PYGLc.*30T>A (n.*30T>A)
c.2379+2909T>A (n.2379+2909T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.50905363G>ACA614275197PYGLc.*29C>T (n.*29C>T)
c.2379+2908C>T (n.2379+2908C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905363G>CCA963068394PYGLc.*29C>G (n.*29C>G)
c.2379+2908C>G (n.2379+2908C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.50905363G=CA2136411101PYGLc.*29C= (n.*29C=)
c.2379+2908C= (n.2379+2908C=)
14g.50905363G>TCA2624828848PYGLc.*29C>A (n.*29C>A)
c.2379+2908C>A (n.2379+2908C>A)
 dbSNP gnomAD v4
14g.50905364C>TCA2624828850PYGLc.*28G>A (n.*28G>A)
c.2379+2907G>A (n.2379+2907G>A)
 gnomAD v4
14g.50905364_50905366delinsCTACA2136411102PYGLc.*26_*28delinsTAG (n.*26_*28delinsTAG)
c.2379+2905_2379+2907delinsTAG (n.2379+2905_2379+2907delinsTAG)
14g.50905366_50905367delCA706601478PYGLc.*26_*27del (n.*26_*27del)
c.2379+2905_2379+2906del (n.2379+2905_2379+2906del)
 dbSNP
14g.50905366A=CA2136411105PYGLc.*26T= (n.*26T=)
c.2379+2905T= (n.2379+2905T=)
14g.50905366A>GCA2136411106PYGLc.*26T>C (n.*26T>C)
c.2379+2905T>C (n.2379+2905T>C)
 dbSNP gnomAD v4
14g.50905367T>CCA2624828852PYGLc.*25A>G (n.*25A>G)
c.2379+2904A>G (n.2379+2904A>G)
 gnomAD v4
14g.50905368G>ACA7183078PYGLc.*24C>T (n.*24C>T)
c.2379+2903C>T (n.2379+2903C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905368G>CCA2624828857PYGLc.*24C>G (n.*24C>G)
c.2379+2903C>G (n.2379+2903C>G)
 gnomAD v4
14g.50905368G=CA2136411109PYGLc.*24C= (n.*24C=)
c.2379+2903C= (n.2379+2903C=)
14g.50905373C>GCA2624828859PYGLc.*19G>C (n.*19G>C)
c.2379+2898G>C (n.2379+2898G>C)
 gnomAD v4
14g.50905375A>CCA2624828865PYGLc.*17T>G (n.*17T>G)
c.2379+2896T>G (n.2379+2896T>G)
 gnomAD v4
14g.50905375A>GCA2624828867PYGLc.*17T>C (n.*17T>C)
c.2379+2896T>C (n.2379+2896T>C)
 gnomAD v4
14g.50905375A>TCA2624828868PYGLc.*17T>A (n.*17T>A)
c.2379+2896T>A (n.2379+2896T>A)
 gnomAD v4
14g.50905375dupCA656114624PYGLc.*17dup (n.*17dup)
c.2379+2896dup (n.2379+2896dup)
 COSMIC
14g.50905378_50905379delCA2624828863PYGLc.*16_*17del (n.*16_*17del)
c.2379+2895_2379+2896del (n.2379+2895_2379+2896del)
 gnomAD v4
14g.50905376G>CCA7183079PYGLc.*16C>G (n.*16C>G)
c.2379+2895C>G (n.2379+2895C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905376G=CA2136411111PYGLc.*16C= (n.*16C=)
c.2379+2895C= (n.2379+2895C=)
14g.50905378G>TCA2624828871PYGLc.*14C>A (n.*14C>A)
c.2379+2893C>A (n.2379+2893C>A)
 gnomAD v4
14g.50905379A=CA2136411115PYGLc.*13T= (n.*13T=)
c.2379+2892T= (n.2379+2892T=)
14g.50905379A>GCA7183081PYGLc.*13T>C (n.*13T>C)
c.2379+2892T>C (n.2379+2892T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905379A>TCA2624828876PYGLc.*13T>A (n.*13T>A)
c.2379+2892T>A (n.2379+2892T>A)
 gnomAD v4
14g.50905379_50905392delinsACAATTCTAGAGTTCA2136411116PYGLc.2544_*13delinsAACTCTAGAATTGT (n.[c.2544_*13delinsAACTCTAGAATTGT;Ter848=])
c.2379+2879_2379+2892delinsAACTCTAGAATTGT (n.2379+2879_2379+2892delinsAACTCTAGAATTGT)
c.2442_*13delinsAACTCTAGAATTGT (n.[c.2442_*13delinsAACTCTAGAATTGT;Ter814=])
14g.50905380delCA2575525107PYGLc.*12del (n.*12del)
c.2379+2891del (n.2379+2891del)
 gnomAD v4
14g.50905380_50905381delinsCACA2136411119PYGLc.*11_*12delinsTG (n.*11_*12delinsTG)
c.2379+2890_2379+2891delinsTG (n.2379+2890_2379+2891delinsTG)
14g.50905380_50905382delinsCAACA2136411120PYGLc.*10_*12delinsTTG (n.*10_*12delinsTTG)
c.2379+2889_2379+2891delinsTTG (n.2379+2889_2379+2891delinsTTG)
14g.50905385_50905397delCA7183080PYGLc.2544_*12del (n.[c.2544_*12del;Ter848CysextTer3])
c.2379+2879_2379+2891del (n.2379+2879_2379+2891del)
c.2442_*12del (n.[c.2442_*12del;Ter814CysextTer3])
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905381A=CA2136411130PYGLc.*11T= (n.*11T=)
c.2379+2890T= (n.2379+2890T=)
14g.50905381A>CCA260818749PYGLc.*11T>G (n.*11T>G)
c.2379+2890T>G (n.2379+2890T>G)
 dbSNP
14g.50905381A>GCA2136411132PYGLc.*11T>C (n.*11T>C)
c.2379+2890T>C (n.2379+2890T>C)
 dbSNP
14g.50905381A>TCA2624828892PYGLc.*11T>A (n.*11T>A)
c.2379+2890T>A (n.2379+2890T>A)
 gnomAD v4
14g.50905381_50905382delCA2136411128PYGLc.*10_*11del (n.*10_*11del)
c.2379+2889_2379+2890del (n.2379+2889_2379+2890del)
 dbSNP
14g.50905382dupCA2729535765PYGLc.*11dup (n.*11dup)
c.2379+2890dup (n.2379+2890dup)
 dbSNP
14g.50905382delCA7183082PYGLc.*11del (n.*11del)
c.2379+2890del (n.2379+2890del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
14g.50905382A=CA2136411136PYGLc.*10T= (n.*10T=)
c.2379+2889T= (n.2379+2889T=)
14g.50905382A>GCA7183083PYGLc.*10T>C (n.*10T>C)
c.2379+2889T>C (n.2379+2889T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905382A>TCA260818756PYGLc.*10T>A (n.*10T>A)
c.2379+2889T>A (n.2379+2889T>A)
 dbSNP
14g.50905383T>GCA2575525110PYGLc.*9A>C (n.*9A>C)
c.2379+2888A>C (n.2379+2888A>C)
14g.50905384T>GCA2624828896PYGLc.*8A>C (n.*8A>C)
c.2379+2887A>C (n.2379+2887A>C)
 gnomAD v4
14g.50905385C>ACA260818768PYGLc.*7G>T (n.*7G>T)
c.2379+2886G>T (n.2379+2886G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905385C=CA2136411145PYGLc.*7G= (n.*7G=)
c.2379+2886G= (n.2379+2886G=)
14g.50905385C>GCA7183084PYGLc.*7G>C (n.*7G>C)
c.2379+2886G>C (n.2379+2886G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905386T>ACA2575525111PYGLc.*6A>T (n.*6A>T)
c.2379+2885A>T (n.2379+2885A>T)
14g.50905388G>CCA614275198PYGLc.*4C>G (n.*4C>G)
c.2379+2883C>G (n.2379+2883C>G)
 dbSNP gnomAD v2 gnomAD v4
14g.50905388G=CA2136411147PYGLc.*4C= (n.*4C=)
c.2379+2883C= (n.2379+2883C=)
14g.50905389A=CA2136411149PYGLc.*3T= (n.*3T=)
c.2379+2882T= (n.2379+2882T=)
14g.50905389A>CCA260818791PYGLc.*3T>G (n.*3T>G)
c.2379+2882T>G (n.2379+2882T>G)
 dbSNP gnomAD v2 gnomAD v4
14g.50905389A>GCA260818784PYGLc.*3T>C (n.*3T>C)
c.2379+2882T>C (n.2379+2882T>C)
 dbSNP
14g.50905389A>TCA2624828903PYGLc.*3T>A (n.*3T>A)
c.2379+2882T>A (n.2379+2882T>A)
 gnomAD v4
14g.50905390G=CA2136411153PYGLc.*2C= (n.*2C=)
c.2379+2881C= (n.2379+2881C=)
14g.50905390G>TCA2136411154PYGLc.*2C>A (n.*2C>A)
c.2379+2881C>A (n.2379+2881C>A)
 dbSNP gnomAD v4
14g.50905391T>GCA2624828905PYGLc.*1A>C (n.*1A>C)
c.2379+2880A>C (n.2379+2880A>C)
 gnomAD v4
14g.50905392T>ACA389678582PYGLc.2544A>T (p.Ter848Cys)
c.2379+2879A>T (n.2379+2879A>T)
c.2442A>T (p.Ter814Cys)
14g.50905392T>CCA389678584PYGLc.2544A>G (p.Ter848Trp)
c.2379+2879A>G (n.2379+2879A>G)
c.2442A>G (p.Ter814Trp)
14g.50905392T>GCA389678592PYGLc.2544A>C (p.Ter848Cys)
c.2379+2879A>C (n.2379+2879A>C)
c.2442A>C (p.Ter814Cys)
14g.50905393C>ACA389678598PYGLc.2543G>T (p.Ter848Leu)
c.2379+2878G>T (n.2379+2878G>T)
c.2441G>T (p.Ter814Leu)
14g.50905393C>GCA389678595PYGLc.2543G>C (p.Ter848Ser)
c.2379+2878G>C (n.2379+2878G>C)
c.2441G>C (p.Ter814Ser)
14g.50905393C>TCA486371950PYGLc.2543G>A (p.Ter848=)
c.2379+2878G>A (n.2379+2878G>A)
c.2441G>A (p.Ter814=)
14g.50905394A>CCA389678601PYGLc.2542T>G (p.Ter848Gly)
c.2379+2877T>G (n.2379+2877T>G)
c.2440T>G (p.Ter814Gly)
14g.50905394A>GCA389678603PYGLc.2542T>C (p.Ter848Arg)
c.2379+2877T>C (n.2379+2877T>C)
c.2440T>C (p.Ter814Arg)
14g.50905394A>TCA389678606PYGLc.2542T>A (p.Ter848Arg)
c.2379+2877T>A (n.2379+2877T>A)
c.2440T>A (p.Ter814Arg)
14g.50905395A=CA2136411156PYGLc.2541T= (p.Asn847=)
c.2379+2876T= (n.2379+2876T=)
c.2439T= (p.Asn813=)
14g.50905395A>CCA389678608PYGLc.2541T>G (p.Asn847Lys)
c.2379+2876T>G (n.2379+2876T>G)
c.2439T>G (p.Asn813Lys)
14g.50905395A>GCA486371959PYGLc.2541T>C (p.Asn847=)
c.2379+2876T>C (n.2379+2876T>C)
c.2439T>C (p.Asn813=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.50905395A>TCA389678611PYGLc.2541T>A (p.Asn847Lys)
c.2379+2876T>A (n.2379+2876T>A)
c.2439T>A (p.Asn813Lys)
14g.50905396T>ACA7183085PYGLc.2540A>T (p.Asn847Ile)
c.2379+2875A>T (n.2379+2875A>T)
c.2438A>T (p.Asn813Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905396T>CCA389678617PYGLc.2540A>G (p.Asn847Ser)
c.2379+2875A>G (n.2379+2875A>G)
c.2438A>G (p.Asn813Ser)
 dbSNP
14g.50905396T>GCA389678614PYGLc.2540A>C (p.Asn847Thr)
c.2379+2875A>C (n.2379+2875A>C)
c.2438A>C (p.Asn813Thr)
14g.50905396T=CA2136411158PYGLc.2540A= (p.Asn847=)
c.2379+2875A= (n.2379+2875A=)
c.2438A= (p.Asn813=)
14g.50905397T>ACA389678621PYGLc.2539A>T (p.Asn847Tyr)
c.2379+2874A>T (n.2379+2874A>T)
c.2437A>T (p.Asn813Tyr)
14g.50905397T>CCA389678627PYGLc.2539A>G (p.Asn847Asp)
c.2379+2874A>G (n.2379+2874A>G)
c.2437A>G (p.Asn813Asp)
14g.50905397T>GCA389678629PYGLc.2539A>C (p.Asn847His)
c.2379+2874A>C (n.2379+2874A>C)
c.2437A>C (p.Asn813His)
14g.50905398T>ACA486371974PYGLc.2538A>T (p.Gly846=)
c.2379+2873A>T (n.2379+2873A>T)
c.2436A>T (p.Gly812=)
14g.50905398T>CCA486371976PYGLc.2538A>G (p.Gly846=)
c.2379+2873A>G (n.2379+2873A>G)
c.2436A>G (p.Gly812=)
14g.50905398T>GCA486371977PYGLc.2538A>C (p.Gly846=)
c.2379+2873A>C (n.2379+2873A>C)
c.2436A>C (p.Gly812=)
14g.50905399C>ACA389678632PYGLc.2537G>T (p.Gly846Val)
c.2379+2872G>T (n.2379+2872G>T)
c.2435G>T (p.Gly812Val)
 COSMIC
14g.50905399C>GCA389678634PYGLc.2537G>C (p.Gly846Ala)
c.2379+2872G>C (n.2379+2872G>C)
c.2435G>C (p.Gly812Ala)
14g.50905399C>TCA389678637PYGLc.2537G>A (p.Gly846Glu)
c.2379+2872G>A (n.2379+2872G>A)
c.2435G>A (p.Gly812Glu)
14g.50905400C>ACA389678640PYGLc.2536G>T (p.Gly846Ter)
c.2379+2871G>T (n.2379+2871G>T)
c.2434G>T (p.Gly812Ter)
14g.50905400C>GCA389678644PYGLc.2536G>C (p.Gly846Arg)
c.2379+2871G>C (n.2379+2871G>C)
c.2434G>C (p.Gly812Arg)
14g.50905400C>TCA389678642PYGLc.2536G>A (p.Gly846Arg)
c.2379+2871G>A (n.2379+2871G>A)
c.2434G>A (p.Gly812Arg)
14g.50905401A>CCA389678646PYGLc.2535T>G (p.Asn845Lys)
c.2379+2870T>G (n.2379+2870T>G)
c.2433T>G (p.Asn811Lys)
 gnomAD v4
14g.50905401A>GCA486371991PYGLc.2535T>C (p.Asn845=)
c.2379+2870T>C (n.2379+2870T>C)
c.2433T>C (p.Asn811=)
14g.50905401A>TCA389678649PYGLc.2535T>A (p.Asn845Lys)
c.2379+2870T>A (n.2379+2870T>A)
c.2433T>A (p.Asn811Lys)
14g.50905402T>ACA389678650PYGLc.2534A>T (p.Asn845Ile)
c.2379+2869A>T (n.2379+2869A>T)
c.2432A>T (p.Asn811Ile)
14g.50905402T>CCA7183086PYGLc.2534A>G (p.Asn845Ser)
c.2379+2869A>G (n.2379+2869A>G)
c.2432A>G (p.Asn811Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905402T>GCA389678654PYGLc.2534A>C (p.Asn845Thr)
c.2379+2869A>C (n.2379+2869A>C)
c.2432A>C (p.Asn811Thr)
14g.50905402T=CA2136411162PYGLc.2534A= (p.Asn845=)
c.2379+2869A= (n.2379+2869A=)
c.2432A= (p.Asn811=)
14g.50905403T>ACA389678655PYGLc.2533A>T (p.Asn845Tyr)
c.2379+2868A>T (n.2379+2868A>T)
c.2431A>T (p.Asn811Tyr)
 gnomAD v4
14g.50905403T>CCA389678656PYGLc.2533A>G (p.Asn845Asp)
c.2379+2868A>G (n.2379+2868A>G)
c.2431A>G (p.Asn811Asp)
14g.50905403T>GCA260818799PYGLc.2533A>C (p.Asn845His)
c.2379+2868A>C (n.2379+2868A>C)
c.2431A>C (p.Asn811His)
 dbSNP COSMIC
14g.50905403T=CA2136411164PYGLc.2533A= (p.Asn845=)
c.2379+2868A= (n.2379+2868A=)
c.2431A= (p.Asn811=)
14g.50905404G>ACA486372001PYGLc.2532C>T (p.Val844=)
c.2379+2867C>T (n.2379+2867C>T)
c.2430C>T (p.Val810=)
14g.50905404G>CCA486372003PYGLc.2532C>G (p.Val844=)
c.2379+2867C>G (n.2379+2867C>G)
c.2430C>G (p.Val810=)
14g.50905404G>TCA486372006PYGLc.2532C>A (p.Val844=)
c.2379+2867C>A (n.2379+2867C>A)
c.2430C>A (p.Val810=)
14g.50905405A>CCA389678661PYGLc.2531T>G (p.Val844Gly)
c.2379+2866T>G (n.2379+2866T>G)
c.2429T>G (p.Val810Gly)
14g.50905405A>GCA389678663PYGLc.2531T>C (p.Val844Ala)
c.2379+2866T>C (n.2379+2866T>C)
c.2429T>C (p.Val810Ala)
14g.50905405A>TCA389678665PYGLc.2531T>A (p.Val844Asp)
c.2379+2866T>A (n.2379+2866T>A)
c.2429T>A (p.Val810Asp)
14g.50905406C>ACA389678667PYGLc.2530G>T (p.Val844Phe)
c.2379+2865G>T (n.2379+2865G>T)
c.2428G>T (p.Val810Phe)
14g.50905406C>GCA389678670PYGLc.2530G>C (p.Val844Leu)
c.2379+2865G>C (n.2379+2865G>C)
c.2428G>C (p.Val810Leu)
14g.50905406C>TCA389678672PYGLc.2530G>A (p.Val844Ile)
c.2379+2865G>A (n.2379+2865G>A)
c.2428G>A (p.Val810Ile)
14g.50905407T>ACA389678675PYGLc.2529A>T (p.Lys843Asn)
c.2379+2864A>T (n.2379+2864A>T)
c.2427A>T (p.Lys809Asn)
14g.50905407T>CCA486372023PYGLc.2529A>G (p.Lys843=)
c.2379+2864A>G (n.2379+2864A>G)
c.2427A>G (p.Lys809=)
 dbSNP
14g.50905407T>GCA389678676PYGLc.2529A>C (p.Lys843Asn)
c.2379+2864A>C (n.2379+2864A>C)
c.2427A>C (p.Lys809Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.50905407T=CA2136411167PYGLc.2529A= (p.Lys843=)
c.2379+2864A= (n.2379+2864A=)
c.2427A= (p.Lys809=)
14g.50905408T>ACA389678678PYGLc.2528A>T (p.Lys843Ile)
c.2379+2863A>T (n.2379+2863A>T)
c.2426A>T (p.Lys809Ile)
14g.50905408T>CCA389678680PYGLc.2528A>G (p.Lys843Arg)
c.2379+2863A>G (n.2379+2863A>G)
c.2426A>G (p.Lys809Arg)
14g.50905408T>GCA389678682PYGLc.2528A>C (p.Lys843Thr)
c.2379+2863A>C (n.2379+2863A>C)
c.2426A>C (p.Lys809Thr)
14g.50905409T>ACA389678685PYGLc.2527A>T (p.Lys843Ter)
c.2379+2862A>T (n.2379+2862A>T)
c.2425A>T (p.Lys809Ter)
14g.50905409T>CCA389678688PYGLc.2527A>G (p.Lys843Glu)
c.2379+2862A>G (n.2379+2862A>G)
c.2425A>G (p.Lys809Glu)
14g.50905409T>GCA389678690PYGLc.2527A>C (p.Lys843Gln)
c.2379+2862A>C (n.2379+2862A>C)
c.2425A>C (p.Lys809Gln)
14g.50905410G>ACA486372038PYGLc.2526C>T (p.Asn842=)
c.2379+2861C>T (n.2379+2861C>T)
c.2424C>T (p.Asn808=)
14g.50905410G>CCA389678692PYGLc.2526C>G (p.Asn842Lys)
c.2379+2861C>G (n.2379+2861C>G)
c.2424C>G (p.Asn808Lys)
14g.50905410G>TCA389678695PYGLc.2526C>A (p.Asn842Lys)
c.2379+2861C>A (n.2379+2861C>A)
c.2424C>A (p.Asn808Lys)
 gnomAD v4
14g.50905411T>ACA389678699PYGLc.2525A>T (p.Asn842Ile)
c.2379+2860A>T (n.2379+2860A>T)
c.2423A>T (p.Asn808Ile)
14g.50905411T>CCA389678701PYGLc.2525A>G (p.Asn842Ser)
c.2379+2860A>G (n.2379+2860A>G)
c.2423A>G (p.Asn808Ser)
 gnomAD v4
14g.50905411T>GCA389678703PYGLc.2525A>C (p.Asn842Thr)
c.2379+2860A>C (n.2379+2860A>C)
c.2423A>C (p.Asn808Thr)
14g.50905412T>ACA389678711PYGLc.2524A>T (p.Asn842Tyr)
c.2379+2859A>T (n.2379+2859A>T)
c.2422A>T (p.Asn808Tyr)
14g.50905412T>CCA389678708PYGLc.2524A>G (p.Asn842Asp)
c.2379+2859A>G (n.2379+2859A>G)
c.2422A>G (p.Asn808Asp)
 dbSNP
14g.50905412T>GCA389678706PYGLc.2524A>C (p.Asn842His)
c.2379+2859A>C (n.2379+2859A>C)
c.2422A>C (p.Asn808His)
14g.50905412T=CA2136411171PYGLc.2524A= (p.Asn842=)
c.2379+2859A= (n.2379+2859A=)
c.2422A= (p.Asn808=)
14g.50905413A>CCA486372054PYGLc.2523T>G (p.Ser841=)
c.2379+2858T>G (n.2379+2858T>G)
c.2421T>G (p.Ser807=)
14g.50905413A>GCA486372059PYGLc.2523T>C (p.Ser841=)
c.2379+2858T>C (n.2379+2858T>C)
c.2421T>C (p.Ser807=)
14g.50905413A>TCA486372056PYGLc.2523T>A (p.Ser841=)
c.2379+2858T>A (n.2379+2858T>A)
c.2421T>A (p.Ser807=)
14g.50905414G>ACA389678713PYGLc.2522C>T (p.Ser841Phe)
c.2379+2857C>T (n.2379+2857C>T)
c.2420C>T (p.Ser807Phe)
14g.50905414G>CCA389678714PYGLc.2522C>G (p.Ser841Cys)
c.2379+2857C>G (n.2379+2857C>G)
c.2420C>G (p.Ser807Cys)
14g.50905414G=CA2136411174PYGLc.2522C= (p.Ser841=)
c.2379+2857C= (n.2379+2857C=)
c.2420C= (p.Ser807=)
14g.50905414G>TCA389678718PYGLc.2522C>A (p.Ser841Tyr)
c.2379+2857C>A (n.2379+2857C>A)
c.2420C>A (p.Ser807Tyr)
 dbSNP gnomAD v3 gnomAD v4
14g.50905415A>CCA389678721PYGLc.2521T>G (p.Ser841Ala)
c.2379+2856T>G (n.2379+2856T>G)
c.2419T>G (p.Ser807Ala)
14g.50905415A>GCA389678722PYGLc.2521T>C (p.Ser841Pro)
c.2379+2856T>C (n.2379+2856T>C)
c.2419T>C (p.Ser807Pro)
14g.50905415A>TCA389678724PYGLc.2521T>A (p.Ser841Thr)
c.2379+2856T>A (n.2379+2856T>A)
c.2419T>A (p.Ser807Thr)
14g.50905416T>ACA389678728PYGLc.2520A>T (p.Glu840Asp)
c.2379+2855A>T (n.2379+2855A>T)
c.2418A>T (p.Glu806Asp)
14g.50905416T>CCA486372074PYGLc.2520A>G (p.Glu840=)
c.2379+2855A>G (n.2379+2855A>G)
c.2418A>G (p.Glu806=)
14g.50905416T>GCA389678730PYGLc.2520A>C (p.Glu840Asp)
c.2379+2855A>C (n.2379+2855A>C)
c.2418A>C (p.Glu806Asp)
14g.50905417T>ACA389678731PYGLc.2519A>T (p.Glu840Val)
c.2379+2854A>T (n.2379+2854A>T)
c.2417A>T (p.Glu806Val)
14g.50905417T>CCA389678735PYGLc.2519A>G (p.Glu840Gly)
c.2379+2854A>G (n.2379+2854A>G)
c.2417A>G (p.Glu806Gly)
14g.50905417T>GCA389678732PYGLc.2519A>C (p.Glu840Ala)
c.2379+2854A>C (n.2379+2854A>C)
c.2417A>C (p.Glu806Ala)
14g.50905418C>ACA7183087PYGLc.2518G>T (p.Glu840Ter)
c.2379+2853G>T (n.2379+2853G>T)
c.2416G>T (p.Glu806Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905418C=CA2136411177PYGLc.2518G= (p.Glu840=)
c.2379+2853G= (n.2379+2853G=)
c.2416G= (p.Glu806=)
14g.50905418C>GCA389678738PYGLc.2518G>C (p.Glu840Gln)
c.2379+2853G>C (n.2379+2853G>C)
c.2416G>C (p.Glu806Gln)
 gnomAD v4
14g.50905418C>TCA389678741PYGLc.2518G>A (p.Glu840Lys)
c.2379+2853G>A (n.2379+2853G>A)
c.2416G>A (p.Glu806Lys)
14g.50905419A>CCA389678743PYGLc.2517T>G (p.Asn839Lys)
c.2379+2852T>G (n.2379+2852T>G)
c.2415T>G (p.Asn805Lys)
14g.50905419A>GCA486372087PYGLc.2517T>C (p.Asn839=)
c.2379+2852T>C (n.2379+2852T>C)
c.2415T>C (p.Asn805=)
 gnomAD v4
14g.50905419A>TCA389678745PYGLc.2517T>A (p.Asn839Lys)
c.2379+2852T>A (n.2379+2852T>A)
c.2415T>A (p.Asn805Lys)
14g.50905420T>ACA389678747PYGLc.2516A>T (p.Asn839Ile)
c.2379+2851A>T (n.2379+2851A>T)
c.2414A>T (p.Asn805Ile)
 gnomAD v4
14g.50905420T>CCA389678749PYGLc.2516A>G (p.Asn839Ser)
c.2379+2851A>G (n.2379+2851A>G)
c.2414A>G (p.Asn805Ser)
14g.50905420T>GCA389678748PYGLc.2516A>C (p.Asn839Thr)
c.2379+2851A>C (n.2379+2851A>C)
c.2414A>C (p.Asn805Thr)
14g.50905421T>ACA389678752PYGLc.2515A>T (p.Asn839Tyr)
c.2379+2850A>T (n.2379+2850A>T)
c.2413A>T (p.Asn805Tyr)
 dbSNP gnomAD v3 gnomAD v4
14g.50905421T>CCA389678753PYGLc.2515A>G (p.Asn839Asp)
c.2379+2850A>G (n.2379+2850A>G)
c.2413A>G (p.Asn805Asp)
 gnomAD v4
14g.50905421T>GCA389678756PYGLc.2515A>C (p.Asn839His)
c.2379+2850A>C (n.2379+2850A>C)
c.2413A>C (p.Asn805His)
14g.50905421T=CA2136411181PYGLc.2515A= (p.Asn839=)
c.2379+2850A= (n.2379+2850A=)
c.2413A= (p.Asn805=)
14g.50905422G>ACA486372103PYGLc.2514C>T (p.Ser838=)
c.2379+2849C>T (n.2379+2849C>T)
c.2412C>T (p.Ser804=)
14g.50905422G>CCA486372104PYGLc.2514C>G (p.Ser838=)
c.2379+2849C>G (n.2379+2849C>G)
c.2412C>G (p.Ser804=)
14g.50905422G=CA2136411183PYGLc.2514C= (p.Ser838=)
c.2379+2849C= (n.2379+2849C=)
c.2412C= (p.Ser804=)
14g.50905422G>TCA486372106PYGLc.2514C>A (p.Ser838=)
c.2379+2849C>A (n.2379+2849C>A)
c.2412C>A (p.Ser804=)
 dbSNP gnomAD v4
14g.50905423G>ACA389678758PYGLc.2513C>T (p.Ser838Phe)
c.2379+2848C>T (n.2379+2848C>T)
c.2411C>T (p.Ser804Phe)
14g.50905423G>CCA389678761PYGLc.2513C>G (p.Ser838Cys)
c.2379+2848C>G (n.2379+2848C>G)
c.2411C>G (p.Ser804Cys)
14g.50905423G=CA2136411185PYGLc.2513C= (p.Ser838=)
c.2379+2848C= (n.2379+2848C=)
c.2411C= (p.Ser804=)
14g.50905423G>TCA389678763PYGLc.2513C>A (p.Ser838Tyr)
c.2379+2848C>A (n.2379+2848C>A)
c.2411C>A (p.Ser804Tyr)
 dbSNP gnomAD v3 gnomAD v4
14g.50905424A=CA2136411186PYGLc.2512T= (p.Ser838=)
c.2379+2847T= (n.2379+2847T=)
c.2410T= (p.Ser804=)
14g.50905424A>CCA389678764PYGLc.2512T>G (p.Ser838Ala)
c.2379+2847T>G (n.2379+2847T>G)
c.2410T>G (p.Ser804Ala)
14g.50905424A>GCA389678766PYGLc.2512T>C (p.Ser838Pro)
c.2379+2847T>C (n.2379+2847T>C)
c.2410T>C (p.Ser804Pro)
14g.50905424A>TCA389678767PYGLc.2512T>A (p.Ser838Thr)
c.2379+2847T>A (n.2379+2847T>A)
c.2410T>A (p.Ser804Thr)
14g.50905425T>ACA486372121PYGLc.2511A>T (p.Leu837=)
c.2379+2846A>T (n.2379+2846A>T)
c.2409A>T (p.Leu803=)
14g.50905425T>CCA486372124PYGLc.2511A>G (p.Leu837=)
c.2379+2846A>G (n.2379+2846A>G)
c.2409A>G (p.Leu803=)
 dbSNP gnomAD v2 gnomAD v4
14g.50905425T>GCA486372126PYGLc.2511A>C (p.Leu837=)
c.2379+2846A>C (n.2379+2846A>C)
c.2409A>C (p.Leu803=)
14g.50905425T=CA2136411188PYGLc.2511A= (p.Leu837=)
c.2379+2846A= (n.2379+2846A=)
c.2409A= (p.Leu803=)
14g.50905425dupCA614275199PYGLc.2511dup (p.Ser838IlefsTer3)
c.2379+2846dup (n.2379+2846dup)
c.2409dup (p.Ser804IlefsTer3)
 dbSNP gnomAD v2 gnomAD v4
14g.50905426A=CA2136411191PYGLc.2510T= (p.Leu837=)
c.2379+2845T= (n.2379+2845T=)
c.2408T= (p.Leu803=)
14g.50905426A>CCA389678770PYGLc.2510T>G (p.Leu837Arg)
c.2379+2845T>G (n.2379+2845T>G)
c.2408T>G (p.Leu803Arg)
14g.50905426A>GCA389678772PYGLc.2510T>C (p.Leu837Pro)
c.2379+2845T>C (n.2379+2845T>C)
c.2408T>C (p.Leu803Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.50905426A>TCA389678774PYGLc.2510T>A (p.Leu837Gln)
c.2379+2845T>A (n.2379+2845T>A)
c.2408T>A (p.Leu803Gln)
14g.50905427G>ACA7183088PYGLc.2509C>T (p.Leu837=)
c.2379+2844C>T (n.2379+2844C>T)
c.2407C>T (p.Leu803=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.50905427G>CCA389678780PYGLc.2509C>G (p.Leu837Val)
c.2379+2844C>G (n.2379+2844C>G)
c.2407C>G (p.Leu803Val)
14g.50905427G=CA2136411193PYGLc.2509C= (p.Leu837=)
c.2379+2844C= (n.2379+2844C=)
c.2407C= (p.Leu803=)
14g.50905427G>TCA389678777PYGLc.2509C>A (p.Leu837Ile)
c.2379+2844C>A (n.2379+2844C>A)
c.2407C>A (p.Leu803Ile)
14g.50905428A>CCA486372139PYGLc.2508T>G (p.Ser836=)
c.2379+2843T>G (n.2379+2843T>G)
c.2406T>G (p.Ser802=)
14g.50905428A>GCA486372142PYGLc.2508T>C (p.Ser836=)
c.2379+2843T>C (n.2379+2843T>C)
c.2406T>C (p.Ser802=)
 dbSNP
14g.50905428A>TCA486372145PYGLc.2508T>A (p.Ser836=)
c.2379+2843T>A (n.2379+2843T>A)
c.2406T>A (p.Ser802=)
14g.50905429G>ACA7183089PYGLc.2507C>T (p.Ser836Phe)
c.2379+2842C>T (n.2379+2842C>T)
c.2405C>T (p.Ser802Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905429G>CCA389678783PYGLc.2507C>G (p.Ser836Cys)
c.2379+2842C>G (n.2379+2842C>G)
c.2405C>G (p.Ser802Cys)
 dbSNP gnomAD v3 gnomAD v4
14g.50905429G=CA2136411197PYGLc.2507C= (p.Ser836=)
c.2379+2842C= (n.2379+2842C=)
c.2405C= (p.Ser802=)
14g.50905429G>TCA389678786PYGLc.2507C>A (p.Ser836Tyr)
c.2379+2842C>A (n.2379+2842C>A)
c.2405C>A (p.Ser802Tyr)
14g.50905430A=CA2136411200PYGLc.2506T= (p.Ser836=)
c.2379+2841T= (n.2379+2841T=)
c.2404T= (p.Ser802=)
14g.50905430A>CCA260818811PYGLc.2506T>G (p.Ser836Ala)
c.2379+2841T>G (n.2379+2841T>G)
c.2404T>G (p.Ser802Ala)
 dbSNP
14g.50905430A>GCA389678794PYGLc.2506T>C (p.Ser836Pro)
c.2379+2841T>C (n.2379+2841T>C)
c.2404T>C (p.Ser802Pro)
14g.50905430A>TCA389678796PYGLc.2506T>A (p.Ser836Thr)
c.2379+2841T>A (n.2379+2841T>A)
c.2404T>A (p.Ser802Thr)
14g.50905431A>CCA389678799PYGLc.2505T>G (p.Ile835Met)
c.2379+2840T>G (n.2379+2840T>G)
c.2403T>G (p.Ile801Met)
14g.50905431A>GCA486372161PYGLc.2505T>C (p.Ile835=)
c.2379+2840T>C (n.2379+2840T>C)
c.2403T>C (p.Ile801=)
14g.50905431A>TCA486372163PYGLc.2505T>A (p.Ile835=)
c.2379+2840T>A (n.2379+2840T>A)
c.2403T>A (p.Ile801=)
14g.50905432A>CCA389678800PYGLc.2504T>G (p.Ile835Ser)
c.2379+2839T>G (n.2379+2839T>G)
c.2402T>G (p.Ile801Ser)
14g.50905432A>GCA389678802PYGLc.2504T>C (p.Ile835Thr)
c.2379+2839T>C (n.2379+2839T>C)
c.2402T>C (p.Ile801Thr)
 gnomAD v4
14g.50905432A>TCA389678805PYGLc.2504T>A (p.Ile835Asn)
c.2379+2839T>A (n.2379+2839T>A)
c.2402T>A (p.Ile801Asn)
14g.50905433T>ACA389678808PYGLc.2503A>T (p.Ile835Phe)
c.2379+2838A>T (n.2379+2838A>T)
c.2401A>T (p.Ile801Phe)
14g.50905433T>CCA389678810PYGLc.2503A>G (p.Ile835Val)
c.2379+2838A>G (n.2379+2838A>G)
c.2401A>G (p.Ile801Val)
 gnomAD v4
14g.50905433T>GCA389678811PYGLc.2503A>C (p.Ile835Leu)
c.2379+2838A>C (n.2379+2838A>C)
c.2401A>C (p.Ile801Leu)
14g.50905434C>ACA389678816PYGLc.2502G>T (p.Lys834Asn)
c.2379+2837G>T (n.2379+2837G>T)
c.2400G>T (p.Lys800Asn)
14g.50905434C=CA2136411205PYGLc.2502G= (p.Lys834=)
c.2379+2837G= (n.2379+2837G=)
c.2400G= (p.Lys800=)
14g.50905434C>GCA389678813PYGLc.2502G>C (p.Lys834Asn)
c.2379+2837G>C (n.2379+2837G>C)
c.2400G>C (p.Lys800Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.50905434C>TCA486372178PYGLc.2502G>A (p.Lys834=)
c.2379+2837G>A (n.2379+2837G>A)
c.2400G>A (p.Lys800=)
 ClinVar
14g.50905435T>ACA389678819PYGLc.2501A>T (p.Lys834Met)
c.2379+2836A>T (n.2379+2836A>T)
c.2399A>T (p.Lys800Met)
14g.50905435T>CCA389678821PYGLc.2501A>G (p.Lys834Arg)
c.2379+2836A>G (n.2379+2836A>G)
c.2399A>G (p.Lys800Arg)
14g.50905435T>GCA389678822PYGLc.2501A>C (p.Lys834Thr)
c.2379+2836A>C (n.2379+2836A>C)
c.2399A>C (p.Lys800Thr)
14g.50905437delCA2575525118PYGLc.2501del (p.Lys834ArgfsTer17)
c.2379+2836del (n.2379+2836del)
c.2399del (p.Lys800ArgfsTer17)
14g.50905436T>ACA389678824PYGLc.2500A>T (p.Lys834Ter)
c.2379+2835A>T (n.2379+2835A>T)
c.2398A>T (p.Lys800Ter)
14g.50905436T>CCA389678825PYGLc.2500A>G (p.Lys834Glu)
c.2379+2835A>G (n.2379+2835A>G)
c.2398A>G (p.Lys800Glu)
14g.50905436T>GCA389678828PYGLc.2500A>C (p.Lys834Gln)
c.2379+2835A>C (n.2379+2835A>C)
c.2398A>C (p.Lys800Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905436T=CA2136411207PYGLc.2500A= (p.Lys834=)
c.2379+2835A= (n.2379+2835A=)
c.2398A= (p.Lys800=)
14g.50905437T>ACA486372197PYGLc.2499A>T (p.Leu833=)
c.2379+2834A>T (n.2379+2834A>T)
c.2397A>T (p.Leu799=)
14g.50905437T>CCA486372195PYGLc.2499A>G (p.Leu833=)
c.2379+2834A>G (n.2379+2834A>G)
c.2397A>G (p.Leu799=)
 dbSNP gnomAD v4
14g.50905437T>GCA486372193PYGLc.2499A>C (p.Leu833=)
c.2379+2834A>C (n.2379+2834A>C)
c.2397A>C (p.Leu799=)
14g.50905437T=CA2136411208PYGLc.2499A= (p.Leu833=)
c.2379+2834A= (n.2379+2834A=)
c.2397A= (p.Leu799=)

Number of alleles fetched