Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.15644703G>A	CA351607346	BTD	c.787G>A (p.Glu263Lys) c.399+2646G>A (n.399+2646G>A) c.165+2646G>A (n.165+2646G>A) c.847G>A (p.Glu283Lys) c.853G>A (p.Glu285Lys) c.565G>A (p.Glu189Lys) c.2565G>A (n.2565G>A)
3	g.15644703G>C	CA351607348	BTD	c.787G>C (p.Glu263Gln) c.399+2646G>C (n.399+2646G>C) c.165+2646G>C (n.165+2646G>C) c.847G>C (p.Glu283Gln) c.853G>C (p.Glu285Gln) c.565G>C (p.Glu189Gln) c.2565G>C (n.2565G>C)
3	g.15644703G>T	CA351607347	BTD	c.787G>T (p.Glu263Ter) c.399+2646G>T (n.399+2646G>T) c.165+2646G>T (n.165+2646G>T) c.847G>T (p.Glu283Ter) c.853G>T (p.Glu285Ter) c.565G>T (p.Glu189Ter) c.2565G>T (n.2565G>T)
3	g.15644704A>C	CA351607349	BTD	c.788A>C (p.Glu263Ala) c.399+2647A>C (n.399+2647A>C) c.165+2647A>C (n.165+2647A>C) c.848A>C (p.Glu283Ala) c.854A>C (p.Glu285Ala) c.566A>C (p.Glu189Ala) c.2566A>C (n.2566A>C)
3	g.15644704A>G	CA351607350	BTD	c.788A>G (p.Glu263Gly) c.399+2647A>G (n.399+2647A>G) c.165+2647A>G (n.165+2647A>G) c.848A>G (p.Glu283Gly) c.854A>G (p.Glu285Gly) c.566A>G (p.Glu189Gly) c.2566A>G (n.2566A>G)
3	g.15644704A>T	CA351607351	BTD	c.788A>T (p.Glu263Val) c.399+2647A>T (n.399+2647A>T) c.165+2647A>T (n.165+2647A>T) c.848A>T (p.Glu283Val) c.854A>T (p.Glu285Val) c.566A>T (p.Glu189Val) c.2566A>T (n.2566A>T)
3	g.15644705G>A	CA432819428	BTD	c.789G>A (p.Glu263=) c.399+2648G>A (n.399+2648G>A) c.165+2648G>A (n.165+2648G>A) c.849G>A (p.Glu283=) c.855G>A (p.Glu285=) c.567G>A (p.Glu189=) c.2567G>A (n.2567G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.15644705G>C	CA351607352	BTD	c.789G>C (p.Glu263Asp) c.399+2648G>C (n.399+2648G>C) c.165+2648G>C (n.165+2648G>C) c.849G>C (p.Glu283Asp) c.855G>C (p.Glu285Asp) c.567G>C (p.Glu189Asp) c.2567G>C (n.2567G>C)
3	g.15644705G=	CA1347664291	BTD	c.789G= (p.Glu263=) c.399+2648G= (n.399+2648G=) c.165+2648G= (n.165+2648G=) c.849G= (p.Glu283=) c.855G= (p.Glu285=) c.567G= (p.Glu189=) c.2567G= (n.2567G=)
3	g.15644705G>T	CA351607353	BTD	c.789G>T (p.Glu263Asp) c.399+2648G>T (n.399+2648G>T) c.165+2648G>T (n.165+2648G>T) c.849G>T (p.Glu283Asp) c.855G>T (p.Glu285Asp) c.567G>T (p.Glu189Asp) c.2567G>T (n.2567G>T)
3	g.15644706A>C	CA351607354	BTD	c.790A>C (p.Ile264Leu) c.399+2649A>C (n.399+2649A>C) c.165+2649A>C (n.165+2649A>C) c.850A>C (p.Ile284Leu) c.856A>C (p.Ile286Leu) c.568A>C (p.Ile190Leu) c.2568A>C (n.2568A>C)
3	g.15644706A>G	CA351607355	BTD	c.790A>G (p.Ile264Val) c.399+2649A>G (n.399+2649A>G) c.165+2649A>G (n.165+2649A>G) c.850A>G (p.Ile284Val) c.856A>G (p.Ile286Val) c.568A>G (p.Ile190Val) c.2568A>G (n.2568A>G)	gnomAD v4
3	g.15644706A>T	CA351607356	BTD	c.790A>T (p.Ile264Phe) c.399+2649A>T (n.399+2649A>T) c.165+2649A>T (n.165+2649A>T) c.850A>T (p.Ile284Phe) c.856A>T (p.Ile286Phe) c.568A>T (p.Ile190Phe) c.2568A>T (n.2568A>T)
3	g.15644707T>A	CA351607357	BTD	c.791T>A (p.Ile264Asn) c.399+2650T>A (n.399+2650T>A) c.165+2650T>A (n.165+2650T>A) c.851T>A (p.Ile284Asn) c.857T>A (p.Ile286Asn) c.569T>A (p.Ile190Asn) c.2569T>A (n.2569T>A)
3	g.15644707T>C	CA351607358	BTD	c.791T>C (p.Ile264Thr) c.399+2650T>C (n.399+2650T>C) c.165+2650T>C (n.165+2650T>C) c.851T>C (p.Ile284Thr) c.857T>C (p.Ile286Thr) c.569T>C (p.Ile190Thr) c.2569T>C (n.2569T>C)	gnomAD v4
3	g.15644707T>G	CA351607359	BTD	c.791T>G (p.Ile264Ser) c.399+2650T>G (n.399+2650T>G) c.165+2650T>G (n.165+2650T>G) c.851T>G (p.Ile284Ser) c.857T>G (p.Ile286Ser) c.569T>G (p.Ile190Ser) c.2569T>G (n.2569T>G)
3	g.15644708T>A	CA432819437	BTD	c.792T>A (p.Ile264=) c.399+2651T>A (n.399+2651T>A) c.165+2651T>A (n.165+2651T>A) c.852T>A (p.Ile284=) c.858T>A (p.Ile286=) c.570T>A (p.Ile190=) c.2570T>A (n.2570T>A)
3	g.15644708T>C	CA432819435	BTD	c.792T>C (p.Ile264=) c.399+2651T>C (n.399+2651T>C) c.165+2651T>C (n.165+2651T>C) c.852T>C (p.Ile284=) c.858T>C (p.Ile286=) c.570T>C (p.Ile190=) c.2570T>C (n.2570T>C)
3	g.15644708T>G	CA351607360	BTD	c.792T>G (p.Ile264Met) c.399+2651T>G (n.399+2651T>G) c.165+2651T>G (n.165+2651T>G) c.852T>G (p.Ile284Met) c.858T>G (p.Ile286Met) c.570T>G (p.Ile190Met) c.2570T>G (n.2570T>G)	dbSNP
3	g.15644708T=	CA1347664292	BTD	c.792T= (p.Ile264=) c.399+2651T= (n.399+2651T=) c.165+2651T= (n.165+2651T=) c.852T= (p.Ile284=) c.858T= (p.Ile286=) c.570T= (p.Ile190=) c.2570T= (n.2570T=)
3	g.15644709C>A	CA351607363	BTD	c.793C>A (p.Gln265Lys) c.399+2652C>A (n.399+2652C>A) c.165+2652C>A (n.165+2652C>A) c.853C>A (p.Gln285Lys) c.859C>A (p.Gln287Lys) c.571C>A (p.Gln191Lys) c.2571C>A (n.2571C>A)
3	g.15644709C>G	CA351607361	BTD	c.793C>G (p.Gln265Glu) c.399+2652C>G (n.399+2652C>G) c.165+2652C>G (n.165+2652C>G) c.853C>G (p.Gln285Glu) c.859C>G (p.Gln287Glu) c.571C>G (p.Gln191Glu) c.2571C>G (n.2571C>G)	gnomAD v4
3	g.15644709C>T	CA351607362	BTD	c.793C>T (p.Gln265Ter) c.399+2652C>T (n.399+2652C>T) c.165+2652C>T (n.165+2652C>T) c.853C>T (p.Gln285Ter) c.859C>T (p.Gln287Ter) c.571C>T (p.Gln191Ter) c.2571C>T (n.2571C>T)
3	g.15644710A>C	CA351607364	BTD	c.794A>C (p.Gln265Pro) c.399+2653A>C (n.399+2653A>C) c.165+2653A>C (n.165+2653A>C) c.854A>C (p.Gln285Pro) c.860A>C (p.Gln287Pro) c.572A>C (p.Gln191Pro) c.2572A>C (n.2572A>C)
3	g.15644710A>G	CA351607365	BTD	c.794A>G (p.Gln265Arg) c.399+2653A>G (n.399+2653A>G) c.165+2653A>G (n.165+2653A>G) c.854A>G (p.Gln285Arg) c.860A>G (p.Gln287Arg) c.572A>G (p.Gln191Arg) c.2572A>G (n.2572A>G)
3	g.15644710A>T	CA351607366	BTD	c.794A>T (p.Gln265Leu) c.399+2653A>T (n.399+2653A>T) c.165+2653A>T (n.165+2653A>T) c.854A>T (p.Gln285Leu) c.860A>T (p.Gln287Leu) c.572A>T (p.Gln191Leu) c.2572A>T (n.2572A>T)
3	g.15644711G>A	CA432819443	BTD	c.795G>A (p.Gln265=) c.399+2654G>A (n.399+2654G>A) c.165+2654G>A (n.165+2654G>A) c.855G>A (p.Gln285=) c.861G>A (p.Gln287=) c.573G>A (p.Gln191=) c.2573G>A (n.2573G>A)
3	g.15644711G>C	CA351607367	BTD	c.795G>C (p.Gln265His) c.399+2654G>C (n.399+2654G>C) c.165+2654G>C (n.165+2654G>C) c.855G>C (p.Gln285His) c.861G>C (p.Gln287His) c.573G>C (p.Gln191His) c.2573G>C (n.2573G>C)	ClinVar dbSNP
3	g.15644711G=	CA1347664296	BTD	c.795G= (p.Gln265=) c.399+2654G= (n.399+2654G=) c.165+2654G= (n.165+2654G=) c.855G= (p.Gln285=) c.861G= (p.Gln287=) c.573G= (p.Gln191=) c.2573G= (n.2573G=)
3	g.15644711G>T	CA351607368	BTD	c.795G>T (p.Gln265His) c.399+2654G>T (n.399+2654G>T) c.165+2654G>T (n.165+2654G>T) c.855G>T (p.Gln285His) c.861G>T (p.Gln287His) c.573G>T (p.Gln191His) c.2573G>T (n.2573G>T)
3	g.15644711_15644712delinsGA	CA1347664298	BTD	c.795_796delinsGA (p.Gln265=) c.399+2654_399+2655delinsGA (n.399+2654_399+2655delinsGA) c.165+2654_165+2655delinsGA (n.165+2654_165+2655delinsGA) c.855_856delinsGA (p.Gln285=) c.861_862delinsGA (p.Gln287=) c.573_574delinsGA (p.Gln191=) c.2573_2574delinsGA (n.2573_2574delinsGA)
3	g.15644712A=	CA1347664304	BTD	c.796A= (p.Lys266=) c.399+2655A= (n.399+2655A=) c.165+2655A= (n.165+2655A=) c.856A= (p.Lys286=) c.862A= (p.Lys288=) c.574A= (p.Lys192=) c.2574A= (n.2574A=)
3	g.15644712A>C	CA351607369	BTD	c.796A>C (p.Lys266Gln) c.399+2655A>C (n.399+2655A>C) c.165+2655A>C (n.165+2655A>C) c.856A>C (p.Lys286Gln) c.862A>C (p.Lys288Gln) c.574A>C (p.Lys192Gln) c.2574A>C (n.2574A>C)
3	g.15644712A>G	CA351607370	BTD	c.796A>G (p.Lys266Glu) c.399+2655A>G (n.399+2655A>G) c.165+2655A>G (n.165+2655A>G) c.856A>G (p.Lys286Glu) c.862A>G (p.Lys288Glu) c.574A>G (p.Lys192Glu) c.2574A>G (n.2574A>G)
3	g.15644712A>T	CA351607371	BTD	c.796A>T (p.Lys266Ter) c.399+2655A>T (n.399+2655A>T) c.165+2655A>T (n.165+2655A>T) c.856A>T (p.Lys286Ter) c.862A>T (p.Lys288Ter) c.574A>T (p.Lys192Ter) c.2574A>T (n.2574A>T)
3	g.15644714del	CA915941881	BTD	c.798del (p.Ala267LeufsTer22) c.399+2657del (n.399+2657del) c.165+2657del (n.165+2657del) c.858del (p.Ala287LeufsTer22) c.864del (p.Ala289LeufsTer22) c.576del (p.Ala193LeufsTer22) c.2576del (n.2576del)	ClinVar dbSNP
3	g.15644713A>C	CA351607372	BTD	c.797A>C (p.Lys266Thr) c.399+2656A>C (n.399+2656A>C) c.165+2656A>C (n.165+2656A>C) c.857A>C (p.Lys286Thr) c.863A>C (p.Lys288Thr) c.575A>C (p.Lys192Thr) c.2575A>C (n.2575A>C)
3	g.15644713A>G	CA351607373	BTD	c.797A>G (p.Lys266Arg) c.399+2656A>G (n.399+2656A>G) c.165+2656A>G (n.165+2656A>G) c.857A>G (p.Lys286Arg) c.863A>G (p.Lys288Arg) c.575A>G (p.Lys192Arg) c.2575A>G (n.2575A>G)	gnomAD v4
3	g.15644713A>T	CA351607374	BTD	c.797A>T (p.Lys266Ile) c.399+2656A>T (n.399+2656A>T) c.165+2656A>T (n.165+2656A>T) c.857A>T (p.Lys286Ile) c.863A>T (p.Lys288Ile) c.575A>T (p.Lys192Ile) c.2575A>T (n.2575A>T)
3	g.15644714A=	CA1347664312	BTD	c.798A= (p.Lys266=) c.399+2657A= (n.399+2657A=) c.165+2657A= (n.165+2657A=) c.858A= (p.Lys286=) c.864A= (p.Lys288=) c.576A= (p.Lys192=) c.2576A= (n.2576A=)
3	g.15644714A>C	CA351607376	BTD	c.798A>C (p.Lys266Asn) c.399+2657A>C (n.399+2657A>C) c.165+2657A>C (n.165+2657A>C) c.858A>C (p.Lys286Asn) c.864A>C (p.Lys288Asn) c.576A>C (p.Lys192Asn) c.2576A>C (n.2576A>C)	gnomAD v4
3	g.15644714A>G	CA2277385	BTD	c.798A>G (p.Lys266=) c.399+2657A>G (n.399+2657A>G) c.165+2657A>G (n.165+2657A>G) c.858A>G (p.Lys286=) c.864A>G (p.Lys288=) c.576A>G (p.Lys192=) c.2576A>G (n.2576A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.15644714A>T	CA351607375	BTD	c.798A>T (p.Lys266Asn) c.399+2657A>T (n.399+2657A>T) c.165+2657A>T (n.165+2657A>T) c.858A>T (p.Lys286Asn) c.864A>T (p.Lys288Asn) c.576A>T (p.Lys192Asn) c.2576A>T (n.2576A>T)
3	g.15644715del	CA2695197751	BTD	c.799del (p.Ala267LeufsTer22) c.399+2658del (n.399+2658del) c.165+2658del (n.165+2658del) c.859del (p.Ala287LeufsTer22) c.865del (p.Ala289LeufsTer22) c.577del (p.Ala193LeufsTer22) c.2577del (n.2577del)	ClinVar
3	g.15644715G>A	CA351607377	BTD	c.799G>A (p.Ala267Thr) c.399+2658G>A (n.399+2658G>A) c.165+2658G>A (n.165+2658G>A) c.859G>A (p.Ala287Thr) c.865G>A (p.Ala289Thr) c.577G>A (p.Ala193Thr) c.2577G>A (n.2577G>A)
3	g.15644715G>C	CA351607378	BTD	c.799G>C (p.Ala267Pro) c.399+2658G>C (n.399+2658G>C) c.165+2658G>C (n.165+2658G>C) c.859G>C (p.Ala287Pro) c.865G>C (p.Ala289Pro) c.577G>C (p.Ala193Pro) c.2577G>C (n.2577G>C)
3	g.15644715G=	CA1347664317	BTD	c.799G= (p.Ala267=) c.399+2658G= (n.399+2658G=) c.165+2658G= (n.165+2658G=) c.859G= (p.Ala287=) c.865G= (p.Ala289=) c.577G= (p.Ala193=) c.2577G= (n.2577G=)
3	g.15644715G>T	CA351607379	BTD	c.799G>T (p.Ala267Ser) c.399+2658G>T (n.399+2658G>T) c.165+2658G>T (n.165+2658G>T) c.859G>T (p.Ala287Ser) c.865G>T (p.Ala289Ser) c.577G>T (p.Ala193Ser) c.2577G>T (n.2577G>T)	dbSNP gnomAD v4
3	g.15644716C>A	CA351607380	BTD	c.800C>A (p.Ala267Asp) c.399+2659C>A (n.399+2659C>A) c.165+2659C>A (n.165+2659C>A) c.860C>A (p.Ala287Asp) c.866C>A (p.Ala289Asp) c.578C>A (p.Ala193Asp) c.2578C>A (n.2578C>A)
3	g.15644716C>G	CA351607381	BTD	c.800C>G (p.Ala267Gly) c.399+2659C>G (n.399+2659C>G) c.165+2659C>G (n.165+2659C>G) c.860C>G (p.Ala287Gly) c.866C>G (p.Ala289Gly) c.578C>G (p.Ala193Gly) c.2578C>G (n.2578C>G)
3	g.15644716C>T	CA351607382	BTD	c.800C>T (p.Ala267Val) c.399+2659C>T (n.399+2659C>T) c.165+2659C>T (n.165+2659C>T) c.860C>T (p.Ala287Val) c.866C>T (p.Ala289Val) c.578C>T (p.Ala193Val) c.2578C>T (n.2578C>T)
3	g.15644717T>A	CA432819454	BTD	c.801T>A (p.Ala267=) c.399+2660T>A (n.399+2660T>A) c.165+2660T>A (n.165+2660T>A) c.861T>A (p.Ala287=) c.867T>A (p.Ala289=) c.579T>A (p.Ala193=) c.2579T>A (n.2579T>A)
3	g.15644717T>C	CA432819455	BTD	c.801T>C (p.Ala267=) c.399+2660T>C (n.399+2660T>C) c.165+2660T>C (n.165+2660T>C) c.861T>C (p.Ala287=) c.867T>C (p.Ala289=) c.579T>C (p.Ala193=) c.2579T>C (n.2579T>C)
3	g.15644717T>G	CA432819456	BTD	c.801T>G (p.Ala267=) c.399+2660T>G (n.399+2660T>G) c.165+2660T>G (n.165+2660T>G) c.861T>G (p.Ala287=) c.867T>G (p.Ala289=) c.579T>G (p.Ala193=) c.2579T>G (n.2579T>G)
3	g.15644720del	CA2664667152	BTD	c.804del (p.Phe268LeufsTer21) c.399+2663del (n.399+2663del) c.165+2663del (n.165+2663del) c.864del (p.Phe288LeufsTer21) c.870del (p.Phe290LeufsTer21) c.582del (p.Phe194LeufsTer21) c.2582del (n.2582del)	gnomAD v4
3	g.15644718T>A	CA351607383	BTD	c.802T>A (p.Phe268Ile) c.399+2661T>A (n.399+2661T>A) c.165+2661T>A (n.165+2661T>A) c.862T>A (p.Phe288Ile) c.868T>A (p.Phe290Ile) c.580T>A (p.Phe194Ile) c.2580T>A (n.2580T>A)
3	g.15644718T>C	CA351607384	BTD	c.802T>C (p.Phe268Leu) c.399+2661T>C (n.399+2661T>C) c.165+2661T>C (n.165+2661T>C) c.862T>C (p.Phe288Leu) c.868T>C (p.Phe290Leu) c.580T>C (p.Phe194Leu) c.2580T>C (n.2580T>C)
3	g.15644718T>G	CA351607385	BTD	c.802T>G (p.Phe268Val) c.399+2661T>G (n.399+2661T>G) c.165+2661T>G (n.165+2661T>G) c.862T>G (p.Phe288Val) c.868T>G (p.Phe290Val) c.580T>G (p.Phe194Val) c.2580T>G (n.2580T>G)
3	g.15644719T>A	CA351607386	BTD	c.803T>A (p.Phe268Tyr) c.399+2662T>A (n.399+2662T>A) c.165+2662T>A (n.165+2662T>A) c.863T>A (p.Phe288Tyr) c.869T>A (p.Phe290Tyr) c.581T>A (p.Phe194Tyr) c.2581T>A (n.2581T>A)
3	g.15644719T>C	CA351607387	BTD	c.803T>C (p.Phe268Ser) c.399+2662T>C (n.399+2662T>C) c.165+2662T>C (n.165+2662T>C) c.863T>C (p.Phe288Ser) c.869T>C (p.Phe290Ser) c.581T>C (p.Phe194Ser) c.2581T>C (n.2581T>C)
3	g.15644719T>G	CA351607388	BTD	c.803T>G (p.Phe268Cys) c.399+2662T>G (n.399+2662T>G) c.165+2662T>G (n.165+2662T>G) c.863T>G (p.Phe288Cys) c.869T>G (p.Phe290Cys) c.581T>G (p.Phe194Cys) c.2581T>G (n.2581T>G)
3	g.15644720T>A	CA351607389	BTD	c.804T>A (p.Phe268Leu) c.399+2663T>A (n.399+2663T>A) c.165+2663T>A (n.165+2663T>A) c.864T>A (p.Phe288Leu) c.870T>A (p.Phe290Leu) c.582T>A (p.Phe194Leu) c.2582T>A (n.2582T>A)
3	g.15644720T>C	CA432819462	BTD	c.804T>C (p.Phe268=) c.399+2663T>C (n.399+2663T>C) c.165+2663T>C (n.165+2663T>C) c.864T>C (p.Phe288=) c.870T>C (p.Phe290=) c.582T>C (p.Phe194=) c.2582T>C (n.2582T>C)
3	g.15644720T>G	CA2277386	BTD	c.804T>G (p.Phe268Leu) c.399+2663T>G (n.399+2663T>G) c.165+2663T>G (n.165+2663T>G) c.864T>G (p.Phe288Leu) c.870T>G (p.Phe290Leu) c.582T>G (p.Phe194Leu) c.2582T>G (n.2582T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.15644720T=	CA1347664319	BTD	c.804T= (p.Phe268=) c.399+2663T= (n.399+2663T=) c.165+2663T= (n.165+2663T=) c.864T= (p.Phe288=) c.870T= (p.Phe290=) c.582T= (p.Phe194=) c.2582T= (n.2582T=)
3	g.15644721G>A	CA351607390	BTD	c.805G>A (p.Ala269Thr) c.399+2664G>A (n.399+2664G>A) c.165+2664G>A (n.165+2664G>A) c.865G>A (p.Ala289Thr) c.871G>A (p.Ala291Thr) c.583G>A (p.Ala195Thr) c.2583G>A (n.2583G>A)	gnomAD v4
3	g.15644721G>C	CA081769	BTD	c.805G>C (p.Ala269Pro) c.399+2664G>C (n.399+2664G>C) c.165+2664G>C (n.165+2664G>C) c.865G>C (p.Ala289Pro) c.871G>C (p.Ala291Pro) c.583G>C (p.Ala195Pro) c.2583G>C (n.2583G>C)	ClinVar dbSNP
3	g.15644721G=	CA1347664324	BTD	c.805G= (p.Ala269=) c.399+2664G= (n.399+2664G=) c.165+2664G= (n.165+2664G=) c.865G= (p.Ala289=) c.871G= (p.Ala291=) c.583G= (p.Ala195=) c.2583G= (n.2583G=)
3	g.15644721G>T	CA351607391	BTD	c.805G>T (p.Ala269Ser) c.399+2664G>T (n.399+2664G>T) c.165+2664G>T (n.165+2664G>T) c.865G>T (p.Ala289Ser) c.871G>T (p.Ala291Ser) c.583G>T (p.Ala195Ser) c.2583G>T (n.2583G>T)	gnomAD v4
3	g.15644722C>A	CA351607392	BTD	c.806C>A (p.Ala269Asp) c.399+2665C>A (n.399+2665C>A) c.165+2665C>A (n.165+2665C>A) c.866C>A (p.Ala289Asp) c.872C>A (p.Ala291Asp) c.584C>A (p.Ala195Asp) c.2584C>A (n.2584C>A)	gnomAD v4
3	g.15644722C=	CA1347664330	BTD	c.806C= (p.Ala269=) c.399+2665C= (n.399+2665C=) c.165+2665C= (n.165+2665C=) c.866C= (p.Ala289=) c.872C= (p.Ala291=) c.584C= (p.Ala195=) c.2584C= (n.2584C=)
3	g.15644722C>G	CA351607393	BTD	c.806C>G (p.Ala269Gly) c.399+2665C>G (n.399+2665C>G) c.165+2665C>G (n.165+2665C>G) c.866C>G (p.Ala289Gly) c.872C>G (p.Ala291Gly) c.584C>G (p.Ala195Gly) c.2584C>G (n.2584C>G)
3	g.15644722C>T	CA16604827	BTD	c.806C>T (p.Ala269Val) c.399+2665C>T (n.399+2665C>T) c.165+2665C>T (n.165+2665C>T) c.866C>T (p.Ala289Val) c.872C>T (p.Ala291Val) c.584C>T (p.Ala195Val) c.2584C>T (n.2584C>T)	ClinVar dbSNP
3	g.15644723T>A	CA432819465	BTD	c.807T>A (p.Ala269=) c.399+2666T>A (n.399+2666T>A) c.165+2666T>A (n.165+2666T>A) c.867T>A (p.Ala289=) c.873T>A (p.Ala291=) c.585T>A (p.Ala195=) c.2585T>A (n.2585T>A)
3	g.15644723T>C	CA432819466	BTD	c.807T>C (p.Ala269=) c.399+2666T>C (n.399+2666T>C) c.165+2666T>C (n.165+2666T>C) c.867T>C (p.Ala289=) c.873T>C (p.Ala291=) c.585T>C (p.Ala195=) c.2585T>C (n.2585T>C)
3	g.15644723T>G	CA432819467	BTD	c.807T>G (p.Ala269=) c.399+2666T>G (n.399+2666T>G) c.165+2666T>G (n.165+2666T>G) c.867T>G (p.Ala289=) c.873T>G (p.Ala291=) c.585T>G (p.Ala195=) c.2585T>G (n.2585T>G)
3	g.15644723dup	CA2277387	BTD	c.807dup (p.Val270CysfsTer11) c.399+2666dup (n.399+2666dup) c.165+2666dup (n.165+2666dup) c.867dup (p.Val290CysfsTer11) c.873dup (p.Val292CysfsTer11) c.585dup (p.Val196CysfsTer11) c.2585dup (n.2585dup)	dbSNP ExAC gnomAD v2
3	g.15644724G>A	CA2277388	BTD	c.808G>A (p.Val270Ile) c.399+2667G>A (n.399+2667G>A) c.165+2667G>A (n.165+2667G>A) c.868G>A (p.Val290Ile) c.874G>A (p.Val292Ile) c.586G>A (p.Val196Ile) c.2586G>A (n.2586G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644724G>C	CA351607394	BTD	c.808G>C (p.Val270Leu) c.399+2667G>C (n.399+2667G>C) c.165+2667G>C (n.165+2667G>C) c.868G>C (p.Val290Leu) c.874G>C (p.Val292Leu) c.586G>C (p.Val196Leu) c.2586G>C (n.2586G>C)	gnomAD v4
3	g.15644724G=	CA1347664336	BTD	c.808G= (p.Val270=) c.399+2667G= (n.399+2667G=) c.165+2667G= (n.165+2667G=) c.868G= (p.Val290=) c.874G= (p.Val292=) c.586G= (p.Val196=) c.2586G= (n.2586G=)
3	g.15644724G>T	CA351607395	BTD	c.808G>T (p.Val270Phe) c.399+2667G>T (n.399+2667G>T) c.165+2667G>T (n.165+2667G>T) c.868G>T (p.Val290Phe) c.874G>T (p.Val292Phe) c.586G>T (p.Val196Phe) c.2586G>T (n.2586G>T)
3	g.15644725T>A	CA351607396	BTD	c.809T>A (p.Val270Asp) c.399+2668T>A (n.399+2668T>A) c.165+2668T>A (n.165+2668T>A) c.869T>A (p.Val290Asp) c.875T>A (p.Val292Asp) c.587T>A (p.Val196Asp) c.2587T>A (n.2587T>A)
3	g.15644725T>C	CA351607397	BTD	c.809T>C (p.Val270Ala) c.399+2668T>C (n.399+2668T>C) c.165+2668T>C (n.165+2668T>C) c.869T>C (p.Val290Ala) c.875T>C (p.Val292Ala) c.587T>C (p.Val196Ala) c.2587T>C (n.2587T>C)
3	g.15644725T>G	CA351607398	BTD	c.809T>G (p.Val270Gly) c.399+2668T>G (n.399+2668T>G) c.165+2668T>G (n.165+2668T>G) c.869T>G (p.Val290Gly) c.875T>G (p.Val292Gly) c.587T>G (p.Val196Gly) c.2587T>G (n.2587T>G)
3	g.15644726T>A	CA432819473	BTD	c.810T>A (p.Val270=) c.399+2669T>A (n.399+2669T>A) c.165+2669T>A (n.165+2669T>A) c.870T>A (p.Val290=) c.876T>A (p.Val292=) c.588T>A (p.Val196=) c.2588T>A (n.2588T>A)
3	g.15644726T>C	CA432819474	BTD	c.810T>C (p.Val270=) c.399+2669T>C (n.399+2669T>C) c.165+2669T>C (n.165+2669T>C) c.870T>C (p.Val290=) c.876T>C (p.Val292=) c.588T>C (p.Val196=) c.2588T>C (n.2588T>C)
3	g.15644726T>G	CA432819475	BTD	c.810T>G (p.Val270=) c.399+2669T>G (n.399+2669T>G) c.165+2669T>G (n.165+2669T>G) c.870T>G (p.Val290=) c.876T>G (p.Val292=) c.588T>G (p.Val196=) c.2588T>G (n.2588T>G)	dbSNP gnomAD v3 gnomAD v4
3	g.15644726T=	CA1347664340	BTD	c.810T= (p.Val270=) c.399+2669T= (n.399+2669T=) c.165+2669T= (n.165+2669T=) c.870T= (p.Val290=) c.876T= (p.Val292=) c.588T= (p.Val196=) c.2588T= (n.2588T=)
3	g.15644727G>A	CA351607399	BTD	c.811G>A (p.Ala271Thr) c.399+2670G>A (n.399+2670G>A) c.165+2670G>A (n.165+2670G>A) c.871G>A (p.Ala291Thr) c.877G>A (p.Ala293Thr) c.589G>A (p.Ala197Thr) c.2589G>A (n.2589G>A)
3	g.15644727G>C	CA351607400	BTD	c.811G>C (p.Ala271Pro) c.399+2670G>C (n.399+2670G>C) c.165+2670G>C (n.165+2670G>C) c.871G>C (p.Ala291Pro) c.877G>C (p.Ala293Pro) c.589G>C (p.Ala197Pro) c.2589G>C (n.2589G>C)
3	g.15644727G>T	CA351607401	BTD	c.811G>T (p.Ala271Ser) c.399+2670G>T (n.399+2670G>T) c.165+2670G>T (n.165+2670G>T) c.871G>T (p.Ala291Ser) c.877G>T (p.Ala293Ser) c.589G>T (p.Ala197Ser) c.2589G>T (n.2589G>T)
3	g.15644728C>A	CA351607402	BTD	c.812C>A (p.Ala271Asp) c.399+2671C>A (n.399+2671C>A) c.165+2671C>A (n.165+2671C>A) c.872C>A (p.Ala291Asp) c.878C>A (p.Ala293Asp) c.590C>A (p.Ala197Asp) c.2590C>A (n.2590C>A)	dbSNP gnomAD v4
3	g.15644728C=	CA1347664343	BTD	c.812C= (p.Ala271=) c.399+2671C= (n.399+2671C=) c.165+2671C= (n.165+2671C=) c.872C= (p.Ala291=) c.878C= (p.Ala293=) c.590C= (p.Ala197=) c.2590C= (n.2590C=)
3	g.15644728C>G	CA351607403	BTD	c.812C>G (p.Ala271Gly) c.399+2671C>G (n.399+2671C>G) c.165+2671C>G (n.165+2671C>G) c.872C>G (p.Ala291Gly) c.878C>G (p.Ala293Gly) c.590C>G (p.Ala197Gly) c.2590C>G (n.2590C>G)
3	g.15644728C>T	CA351607404	BTD	c.812C>T (p.Ala271Val) c.399+2671C>T (n.399+2671C>T) c.165+2671C>T (n.165+2671C>T) c.872C>T (p.Ala291Val) c.878C>T (p.Ala293Val) c.590C>T (p.Ala197Val) c.2590C>T (n.2590C>T)
3	g.15644729del	CA2664667153	BTD	c.813del (p.Phe272LeufsTer17) c.399+2672del (n.399+2672del) c.165+2672del (n.165+2672del) c.873del (p.Phe292LeufsTer17) c.879del (p.Phe294LeufsTer17) c.591del (p.Phe198LeufsTer17) c.2591del (n.2591del)	gnomAD v4
3	g.15644729C>A	CA432819477	BTD	c.813C>A (p.Ala271=) c.399+2672C>A (n.399+2672C>A) c.165+2672C>A (n.165+2672C>A) c.873C>A (p.Ala291=) c.879C>A (p.Ala293=) c.591C>A (p.Ala197=) c.2591C>A (n.2591C>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.15644729C=	CA1347664345	BTD	c.813C= (p.Ala271=) c.399+2672C= (n.399+2672C=) c.165+2672C= (n.165+2672C=) c.873C= (p.Ala291=) c.879C= (p.Ala293=) c.591C= (p.Ala197=) c.2591C= (n.2591C=)
3	g.15644729C>G	CA432819478	BTD	c.813C>G (p.Ala271=) c.399+2672C>G (n.399+2672C>G) c.165+2672C>G (n.165+2672C>G) c.873C>G (p.Ala291=) c.879C>G (p.Ala293=) c.591C>G (p.Ala197=) c.2591C>G (n.2591C>G)
3	g.15644729C>T	CA432819480	BTD	c.813C>T (p.Ala271=) c.399+2672C>T (n.399+2672C>T) c.165+2672C>T (n.165+2672C>T) c.873C>T (p.Ala291=) c.879C>T (p.Ala293=) c.591C>T (p.Ala197=) c.2591C>T (n.2591C>T)	gnomAD v4
3	g.15644730T>A	CA351607405	BTD	c.814T>A (p.Phe272Ile) c.399+2673T>A (n.399+2673T>A) c.165+2673T>A (n.165+2673T>A) c.874T>A (p.Phe292Ile) c.880T>A (p.Phe294Ile) c.592T>A (p.Phe198Ile) c.2592T>A (n.2592T>A)
3	g.15644730T>C	CA351607406	BTD	c.814T>C (p.Phe272Leu) c.399+2673T>C (n.399+2673T>C) c.165+2673T>C (n.165+2673T>C) c.874T>C (p.Phe292Leu) c.880T>C (p.Phe294Leu) c.592T>C (p.Phe198Leu) c.2592T>C (n.2592T>C)
3	g.15644730T>G	CA351607407	BTD	c.814T>G (p.Phe272Val) c.399+2673T>G (n.399+2673T>G) c.165+2673T>G (n.165+2673T>G) c.874T>G (p.Phe292Val) c.880T>G (p.Phe294Val) c.592T>G (p.Phe198Val) c.2592T>G (n.2592T>G)
3	g.15644731T>A	CA351607410	BTD	c.815T>A (p.Phe272Tyr) c.399+2674T>A (n.399+2674T>A) c.165+2674T>A (n.165+2674T>A) c.875T>A (p.Phe292Tyr) c.881T>A (p.Phe294Tyr) c.593T>A (p.Phe198Tyr) c.2593T>A (n.2593T>A)
3	g.15644731T>C	CA351607408	BTD	c.815T>C (p.Phe272Ser) c.399+2674T>C (n.399+2674T>C) c.165+2674T>C (n.165+2674T>C) c.875T>C (p.Phe292Ser) c.881T>C (p.Phe294Ser) c.593T>C (p.Phe198Ser) c.2593T>C (n.2593T>C)
3	g.15644731T>G	CA351607409	BTD	c.815T>G (p.Phe272Cys) c.399+2674T>G (n.399+2674T>G) c.165+2674T>G (n.165+2674T>G) c.875T>G (p.Phe292Cys) c.881T>G (p.Phe294Cys) c.593T>G (p.Phe198Cys) c.2593T>G (n.2593T>G)
3	g.15644732T>A	CA351607411	BTD	c.816T>A (p.Phe272Leu) c.399+2675T>A (n.399+2675T>A) c.165+2675T>A (n.165+2675T>A) c.876T>A (p.Phe292Leu) c.882T>A (p.Phe294Leu) c.594T>A (p.Phe198Leu) c.2594T>A (n.2594T>A)
3	g.15644732T>C	CA432819486	BTD	c.816T>C (p.Phe272=) c.399+2675T>C (n.399+2675T>C) c.165+2675T>C (n.165+2675T>C) c.876T>C (p.Phe292=) c.882T>C (p.Phe294=) c.594T>C (p.Phe198=) c.2594T>C (n.2594T>C)
3	g.15644732T>G	CA351607412	BTD	c.816T>G (p.Phe272Leu) c.399+2675T>G (n.399+2675T>G) c.165+2675T>G (n.165+2675T>G) c.876T>G (p.Phe292Leu) c.882T>G (p.Phe294Leu) c.594T>G (p.Phe198Leu) c.2594T>G (n.2594T>G)
3	g.15644733G>A	CA2277390	BTD	c.817G>A (p.Gly273Ser) c.399+2676G>A (n.399+2676G>A) c.165+2676G>A (n.165+2676G>A) c.877G>A (p.Gly293Ser) c.883G>A (p.Gly295Ser) c.595G>A (p.Gly199Ser) c.2595G>A (n.2595G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644733G>C	CA2277389	BTD	c.817G>C (p.Gly273Arg) c.399+2676G>C (n.399+2676G>C) c.165+2676G>C (n.165+2676G>C) c.877G>C (p.Gly293Arg) c.883G>C (p.Gly295Arg) c.595G>C (p.Gly199Arg) c.2595G>C (n.2595G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644733G=	CA1347664349	BTD	c.817G= (p.Gly273=) c.399+2676G= (n.399+2676G=) c.165+2676G= (n.165+2676G=) c.877G= (p.Gly293=) c.883G= (p.Gly295=) c.595G= (p.Gly199=) c.2595G= (n.2595G=)
3	g.15644733G>T	CA351607413	BTD	c.817G>T (p.Gly273Cys) c.399+2676G>T (n.399+2676G>T) c.165+2676G>T (n.165+2676G>T) c.877G>T (p.Gly293Cys) c.883G>T (p.Gly295Cys) c.595G>T (p.Gly199Cys) c.2595G>T (n.2595G>T)
3	g.15644734G>A	CA2277391	BTD	c.818G>A (p.Gly273Asp) c.399+2677G>A (n.399+2677G>A) c.165+2677G>A (n.165+2677G>A) c.878G>A (p.Gly293Asp) c.884G>A (p.Gly295Asp) c.596G>A (p.Gly199Asp) c.2596G>A (n.2596G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.15644734G>C	CA351607414	BTD	c.818G>C (p.Gly273Ala) c.399+2677G>C (n.399+2677G>C) c.165+2677G>C (n.165+2677G>C) c.878G>C (p.Gly293Ala) c.884G>C (p.Gly295Ala) c.596G>C (p.Gly199Ala) c.2596G>C (n.2596G>C)	dbSNP
3	g.15644734G=	CA1347664358	BTD	c.818G= (p.Gly273=) c.399+2677G= (n.399+2677G=) c.165+2677G= (n.165+2677G=) c.878G= (p.Gly293=) c.884G= (p.Gly295=) c.596G= (p.Gly199=) c.2596G= (n.2596G=)
3	g.15644734G>T	CA351607415	BTD	c.818G>T (p.Gly273Val) c.399+2677G>T (n.399+2677G>T) c.165+2677G>T (n.165+2677G>T) c.878G>T (p.Gly293Val) c.884G>T (p.Gly295Val) c.596G>T (p.Gly199Val) c.2596G>T (n.2596G>T)
3	g.15644735C>A	CA432819492	BTD	c.819C>A (p.Gly273=) c.399+2678C>A (n.399+2678C>A) c.165+2678C>A (n.165+2678C>A) c.879C>A (p.Gly293=) c.885C>A (p.Gly295=) c.597C>A (p.Gly199=) c.2597C>A (n.2597C>A)
3	g.15644735C>G	CA432819493	BTD	c.819C>G (p.Gly273=) c.399+2678C>G (n.399+2678C>G) c.165+2678C>G (n.165+2678C>G) c.879C>G (p.Gly293=) c.885C>G (p.Gly295=) c.597C>G (p.Gly199=) c.2597C>G (n.2597C>G)
3	g.15644735C>T	CA432819494	BTD	c.819C>T (p.Gly273=) c.399+2678C>T (n.399+2678C>T) c.165+2678C>T (n.165+2678C>T) c.879C>T (p.Gly293=) c.885C>T (p.Gly295=) c.597C>T (p.Gly199=) c.2597C>T (n.2597C>T)
3	g.15644736A=	CA1347664364	BTD	c.820A= (p.Ile274=) c.399+2679A= (n.399+2679A=) c.165+2679A= (n.165+2679A=) c.880A= (p.Ile294=) c.886A= (p.Ile296=) c.598A= (p.Ile200=) c.2598A= (n.2598A=)
3	g.15644736A>C	CA351607416	BTD	c.820A>C (p.Ile274Leu) c.399+2679A>C (n.399+2679A>C) c.165+2679A>C (n.165+2679A>C) c.880A>C (p.Ile294Leu) c.886A>C (p.Ile296Leu) c.598A>C (p.Ile200Leu) c.2598A>C (n.2598A>C)
3	g.15644736A>G	CA278270	BTD	c.820A>G (p.Ile274Val) c.399+2679A>G (n.399+2679A>G) c.165+2679A>G (n.165+2679A>G) c.880A>G (p.Ile294Val) c.886A>G (p.Ile296Val) c.598A>G (p.Ile200Val) c.2598A>G (n.2598A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644736A>T	CA351607417	BTD	c.820A>T (p.Ile274Phe) c.399+2679A>T (n.399+2679A>T) c.165+2679A>T (n.165+2679A>T) c.880A>T (p.Ile294Phe) c.886A>T (p.Ile296Phe) c.598A>T (p.Ile200Phe) c.2598A>T (n.2598A>T)	gnomAD v4
3	g.15644737T>A	CA351607420	BTD	c.821T>A (p.Ile274Asn) c.399+2680T>A (n.399+2680T>A) c.165+2680T>A (n.165+2680T>A) c.881T>A (p.Ile294Asn) c.887T>A (p.Ile296Asn) c.599T>A (p.Ile200Asn) c.2599T>A (n.2599T>A)
3	g.15644737T>C	CA351607419	BTD	c.821T>C (p.Ile274Thr) c.399+2680T>C (n.399+2680T>C) c.165+2680T>C (n.165+2680T>C) c.881T>C (p.Ile294Thr) c.887T>C (p.Ile296Thr) c.599T>C (p.Ile200Thr) c.2599T>C (n.2599T>C)
3	g.15644737T>G	CA351607418	BTD	c.821T>G (p.Ile274Ser) c.399+2680T>G (n.399+2680T>G) c.165+2680T>G (n.165+2680T>G) c.881T>G (p.Ile294Ser) c.887T>G (p.Ile296Ser) c.599T>G (p.Ile200Ser) c.2599T>G (n.2599T>G)
3	g.15644738C>A	CA432819499	BTD	c.822C>A (p.Ile274=) c.399+2681C>A (n.399+2681C>A) c.165+2681C>A (n.165+2681C>A) c.882C>A (p.Ile294=) c.888C>A (p.Ile296=) c.600C>A (p.Ile200=) c.2600C>A (n.2600C>A)
3	g.15644738C>G	CA351607421	BTD	c.822C>G (p.Ile274Met) c.399+2681C>G (n.399+2681C>G) c.165+2681C>G (n.165+2681C>G) c.882C>G (p.Ile294Met) c.888C>G (p.Ile296Met) c.600C>G (p.Ile200Met) c.2600C>G (n.2600C>G)
3	g.15644738C>T	CA432819501	BTD	c.822C>T (p.Ile274=) c.399+2681C>T (n.399+2681C>T) c.165+2681C>T (n.165+2681C>T) c.882C>T (p.Ile294=) c.888C>T (p.Ile296=) c.600C>T (p.Ile200=) c.2600C>T (n.2600C>T)
3	g.15644739A>C	CA351607422	BTD	c.823A>C (p.Asn275His) c.399+2682A>C (n.399+2682A>C) c.165+2682A>C (n.165+2682A>C) c.883A>C (p.Asn295His) c.889A>C (p.Asn297His) c.601A>C (p.Asn201His) c.2601A>C (n.2601A>C)
3	g.15644739A>G	CA351607423	BTD	c.823A>G (p.Asn275Asp) c.399+2682A>G (n.399+2682A>G) c.165+2682A>G (n.165+2682A>G) c.883A>G (p.Asn295Asp) c.889A>G (p.Asn297Asp) c.601A>G (p.Asn201Asp) c.2601A>G (n.2601A>G)
3	g.15644739A>T	CA351607424	BTD	c.823A>T (p.Asn275Tyr) c.399+2682A>T (n.399+2682A>T) c.165+2682A>T (n.165+2682A>T) c.883A>T (p.Asn295Tyr) c.889A>T (p.Asn297Tyr) c.601A>T (p.Asn201Tyr) c.2601A>T (n.2601A>T)
3	g.15644740A>C	CA351607425	BTD	c.824A>C (p.Asn275Thr) c.399+2683A>C (n.399+2683A>C) c.165+2683A>C (n.165+2683A>C) c.884A>C (p.Asn295Thr) c.890A>C (p.Asn297Thr) c.602A>C (p.Asn201Thr) c.2602A>C (n.2602A>C)
3	g.15644740A>G	CA351607426	BTD	c.824A>G (p.Asn275Ser) c.399+2683A>G (n.399+2683A>G) c.165+2683A>G (n.165+2683A>G) c.884A>G (p.Asn295Ser) c.890A>G (p.Asn297Ser) c.602A>G (p.Asn201Ser) c.2602A>G (n.2602A>G)
3	g.15644740A>T	CA351607427	BTD	c.824A>T (p.Asn275Ile) c.399+2683A>T (n.399+2683A>T) c.165+2683A>T (n.165+2683A>T) c.884A>T (p.Asn295Ile) c.890A>T (p.Asn297Ile) c.602A>T (p.Asn201Ile) c.2602A>T (n.2602A>T)
3	g.15644741C>A	CA351607428	BTD	c.825C>A (p.Asn275Lys) c.399+2684C>A (n.399+2684C>A) c.165+2684C>A (n.165+2684C>A) c.885C>A (p.Asn295Lys) c.891C>A (p.Asn297Lys) c.603C>A (p.Asn201Lys) c.2603C>A (n.2603C>A)	ClinVar
3	g.15644741C=	CA1347664369	BTD	c.825C= (p.Asn275=) c.399+2684C= (n.399+2684C=) c.165+2684C= (n.165+2684C=) c.885C= (p.Asn295=) c.891C= (p.Asn297=) c.603C= (p.Asn201=) c.2603C= (n.2603C=)
3	g.15644741C>G	CA351607429	BTD	c.825C>G (p.Asn275Lys) c.399+2684C>G (n.399+2684C>G) c.165+2684C>G (n.165+2684C>G) c.885C>G (p.Asn295Lys) c.891C>G (p.Asn297Lys) c.603C>G (p.Asn201Lys) c.2603C>G (n.2603C>G)
3	g.15644741C>T	CA2277392	BTD	c.825C>T (p.Asn275=) c.399+2684C>T (n.399+2684C>T) c.165+2684C>T (n.165+2684C>T) c.885C>T (p.Asn295=) c.891C>T (p.Asn297=) c.603C>T (p.Asn201=) c.2603C>T (n.2603C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644742G>A	CA2277393	BTD	c.826G>A (p.Val276Ile) c.399+2685G>A (n.399+2685G>A) c.165+2685G>A (n.165+2685G>A) c.886G>A (p.Val296Ile) c.892G>A (p.Val298Ile) c.604G>A (p.Val202Ile) c.2604G>A (n.2604G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644742G>C	CA351607430	BTD	c.826G>C (p.Val276Leu) c.399+2685G>C (n.399+2685G>C) c.165+2685G>C (n.165+2685G>C) c.886G>C (p.Val296Leu) c.892G>C (p.Val298Leu) c.604G>C (p.Val202Leu) c.2604G>C (n.2604G>C)	gnomAD v4
3	g.15644742G=	CA1347664372	BTD	c.826G= (p.Val276=) c.399+2685G= (n.399+2685G=) c.165+2685G= (n.165+2685G=) c.886G= (p.Val296=) c.892G= (p.Val298=) c.604G= (p.Val202=) c.2604G= (n.2604G=)
3	g.15644742G>T	CA351607431	BTD	c.826G>T (p.Val276Phe) c.399+2685G>T (n.399+2685G>T) c.165+2685G>T (n.165+2685G>T) c.886G>T (p.Val296Phe) c.892G>T (p.Val298Phe) c.604G>T (p.Val202Phe) c.2604G>T (n.2604G>T)	dbSNP gnomAD v2 gnomAD v4
3	g.15644743T>A	CA351607433	BTD	c.827T>A (p.Val276Asp) c.399+2686T>A (n.399+2686T>A) c.165+2686T>A (n.165+2686T>A) c.887T>A (p.Val296Asp) c.893T>A (p.Val298Asp) c.605T>A (p.Val202Asp) c.2605T>A (n.2605T>A)
3	g.15644743T>C	CA351607432	BTD	c.827T>C (p.Val276Ala) c.399+2686T>C (n.399+2686T>C) c.165+2686T>C (n.165+2686T>C) c.887T>C (p.Val296Ala) c.893T>C (p.Val298Ala) c.605T>C (p.Val202Ala) c.2605T>C (n.2605T>C)
3	g.15644743T>G	CA278272	BTD	c.827T>G (p.Val276Gly) c.399+2686T>G (n.399+2686T>G) c.165+2686T>G (n.165+2686T>G) c.887T>G (p.Val296Gly) c.893T>G (p.Val298Gly) c.605T>G (p.Val202Gly) c.2605T>G (n.2605T>G)	ClinVar dbSNP gnomAD v4
3	g.15644743T=	CA1347664377	BTD	c.827T= (p.Val276=) c.399+2686T= (n.399+2686T=) c.165+2686T= (n.165+2686T=) c.887T= (p.Val296=) c.893T= (p.Val298=) c.605T= (p.Val202=) c.2605T= (n.2605T=)
3	g.15644744T>A	CA432819513	BTD	c.828T>A (p.Val276=) c.399+2687T>A (n.399+2687T>A) c.165+2687T>A (n.165+2687T>A) c.888T>A (p.Val296=) c.894T>A (p.Val298=) c.606T>A (p.Val202=) c.2606T>A (n.2606T>A)
3	g.15644744T>C	CA432819516	BTD	c.828T>C (p.Val276=) c.399+2687T>C (n.399+2687T>C) c.165+2687T>C (n.165+2687T>C) c.888T>C (p.Val296=) c.894T>C (p.Val298=) c.606T>C (p.Val202=) c.2606T>C (n.2606T>C)
3	g.15644744T>G	CA432819515	BTD	c.828T>G (p.Val276=) c.399+2687T>G (n.399+2687T>G) c.165+2687T>G (n.165+2687T>G) c.888T>G (p.Val296=) c.894T>G (p.Val298=) c.606T>G (p.Val202=) c.2606T>G (n.2606T>G)
3	g.15644745C>A	CA351607434	BTD	c.829C>A (p.Leu277Met) c.399+2688C>A (n.399+2688C>A) c.165+2688C>A (n.165+2688C>A) c.889C>A (p.Leu297Met) c.895C>A (p.Leu299Met) c.607C>A (p.Leu203Met) c.2607C>A (n.2607C>A)
3	g.15644745C>G	CA351607435	BTD	c.829C>G (p.Leu277Val) c.399+2688C>G (n.399+2688C>G) c.165+2688C>G (n.165+2688C>G) c.889C>G (p.Leu297Val) c.895C>G (p.Leu299Val) c.607C>G (p.Leu203Val) c.2607C>G (n.2607C>G)
3	g.15644745C>T	CA432819520	BTD	c.829C>T (p.Leu277=) c.399+2688C>T (n.399+2688C>T) c.165+2688C>T (n.165+2688C>T) c.889C>T (p.Leu297=) c.895C>T (p.Leu299=) c.607C>T (p.Leu203=) c.2607C>T (n.2607C>T)	gnomAD v4
3	g.15644746T>A	CA351607436	BTD	c.830T>A (p.Leu277Gln) c.399+2689T>A (n.399+2689T>A) c.165+2689T>A (n.165+2689T>A) c.890T>A (p.Leu297Gln) c.896T>A (p.Leu299Gln) c.608T>A (p.Leu203Gln) c.2608T>A (n.2608T>A)
3	g.15644746T>C	CA351607437	BTD	c.830T>C (p.Leu277Pro) c.399+2689T>C (n.399+2689T>C) c.165+2689T>C (n.165+2689T>C) c.890T>C (p.Leu297Pro) c.896T>C (p.Leu299Pro) c.608T>C (p.Leu203Pro) c.2608T>C (n.2608T>C)
3	g.15644746T>G	CA351607438	BTD	c.830T>G (p.Leu277Arg) c.399+2689T>G (n.399+2689T>G) c.165+2689T>G (n.165+2689T>G) c.890T>G (p.Leu297Arg) c.896T>G (p.Leu299Arg) c.608T>G (p.Leu203Arg) c.2608T>G (n.2608T>G)
3	g.15644747G>A	CA432819523	BTD	c.831G>A (p.Leu277=) c.399+2690G>A (n.399+2690G>A) c.165+2690G>A (n.165+2690G>A) c.891G>A (p.Leu297=) c.897G>A (p.Leu299=) c.609G>A (p.Leu203=) c.2609G>A (n.2609G>A)	dbSNP gnomAD v2
3	g.15644747G>C	CA432819524	BTD	c.831G>C (p.Leu277=) c.399+2690G>C (n.399+2690G>C) c.165+2690G>C (n.165+2690G>C) c.891G>C (p.Leu297=) c.897G>C (p.Leu299=) c.609G>C (p.Leu203=) c.2609G>C (n.2609G>C)
3	g.15644747G=	CA1347664383	BTD	c.831G= (p.Leu277=) c.399+2690G= (n.399+2690G=) c.165+2690G= (n.165+2690G=) c.891G= (p.Leu297=) c.897G= (p.Leu299=) c.609G= (p.Leu203=) c.2609G= (n.2609G=)
3	g.15644747G>T	CA432819525	BTD	c.831G>T (p.Leu277=) c.399+2690G>T (n.399+2690G>T) c.165+2690G>T (n.165+2690G>T) c.891G>T (p.Leu297=) c.897G>T (p.Leu299=) c.609G>T (p.Leu203=) c.2609G>T (n.2609G>T)
3	g.15644748G>A	CA351607439	BTD	c.832G>A (p.Ala278Thr) c.399+2691G>A (n.399+2691G>A) c.165+2691G>A (n.165+2691G>A) c.892G>A (p.Ala298Thr) c.898G>A (p.Ala300Thr) c.610G>A (p.Ala204Thr) c.2610G>A (n.2610G>A)
3	g.15644748G>C	CA351607440	BTD	c.832G>C (p.Ala278Pro) c.399+2691G>C (n.399+2691G>C) c.165+2691G>C (n.165+2691G>C) c.892G>C (p.Ala298Pro) c.898G>C (p.Ala300Pro) c.610G>C (p.Ala204Pro) c.2610G>C (n.2610G>C)
3	g.15644748G>T	CA351607441	BTD	c.832G>T (p.Ala278Ser) c.399+2691G>T (n.399+2691G>T) c.165+2691G>T (n.165+2691G>T) c.892G>T (p.Ala298Ser) c.898G>T (p.Ala300Ser) c.610G>T (p.Ala204Ser) c.2610G>T (n.2610G>T)
3	g.15644749C>A	CA351607442	BTD	c.833C>A (p.Ala278Glu) c.399+2692C>A (n.399+2692C>A) c.165+2692C>A (n.165+2692C>A) c.893C>A (p.Ala298Glu) c.899C>A (p.Ala300Glu) c.611C>A (p.Ala204Glu) c.2611C>A (n.2611C>A)
3	g.15644749C>G	CA351607443	BTD	c.833C>G (p.Ala278Gly) c.399+2692C>G (n.399+2692C>G) c.165+2692C>G (n.165+2692C>G) c.893C>G (p.Ala298Gly) c.899C>G (p.Ala300Gly) c.611C>G (p.Ala204Gly) c.2611C>G (n.2611C>G)
3	g.15644749C>T	CA351607444	BTD	c.833C>T (p.Ala278Val) c.399+2692C>T (n.399+2692C>T) c.165+2692C>T (n.165+2692C>T) c.893C>T (p.Ala298Val) c.899C>T (p.Ala300Val) c.611C>T (p.Ala204Val) c.2611C>T (n.2611C>T)	COSMIC
3	g.15644750A>C	CA432819529	BTD	c.834A>C (p.Ala278=) c.399+2693A>C (n.399+2693A>C) c.165+2693A>C (n.165+2693A>C) c.894A>C (p.Ala298=) c.900A>C (p.Ala300=) c.612A>C (p.Ala204=) c.2612A>C (n.2612A>C)
3	g.15644750A>G	CA432819530	BTD	c.834A>G (p.Ala278=) c.399+2693A>G (n.399+2693A>G) c.165+2693A>G (n.165+2693A>G) c.894A>G (p.Ala298=) c.900A>G (p.Ala300=) c.612A>G (p.Ala204=) c.2612A>G (n.2612A>G)
3	g.15644750A>T	CA432819533	BTD	c.834A>T (p.Ala278=) c.399+2693A>T (n.399+2693A>T) c.165+2693A>T (n.165+2693A>T) c.894A>T (p.Ala298=) c.900A>T (p.Ala300=) c.612A>T (p.Ala204=) c.2612A>T (n.2612A>T)
3	g.15644751G>A	CA351607447	BTD	c.835G>A (p.Ala279Thr) c.399+2694G>A (n.399+2694G>A) c.165+2694G>A (n.165+2694G>A) c.895G>A (p.Ala299Thr) c.901G>A (p.Ala301Thr) c.613G>A (p.Ala205Thr) c.2613G>A (n.2613G>A)
3	g.15644751G>C	CA351607446	BTD	c.835G>C (p.Ala279Pro) c.399+2694G>C (n.399+2694G>C) c.165+2694G>C (n.165+2694G>C) c.895G>C (p.Ala299Pro) c.901G>C (p.Ala301Pro) c.613G>C (p.Ala205Pro) c.2613G>C (n.2613G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644751G=	CA1347664387	BTD	c.835G= (p.Ala279=) c.399+2694G= (n.399+2694G=) c.165+2694G= (n.165+2694G=) c.895G= (p.Ala299=) c.901G= (p.Ala301=) c.613G= (p.Ala205=) c.2613G= (n.2613G=)
3	g.15644751G>T	CA351607445	BTD	c.835G>T (p.Ala279Ser) c.399+2694G>T (n.399+2694G>T) c.165+2694G>T (n.165+2694G>T) c.895G>T (p.Ala299Ser) c.901G>T (p.Ala301Ser) c.613G>T (p.Ala205Ser) c.2613G>T (n.2613G>T)
3	g.15644752C>A	CA351607448	BTD	c.836C>A (p.Ala279Asp) c.399+2695C>A (n.399+2695C>A) c.165+2695C>A (n.165+2695C>A) c.896C>A (p.Ala299Asp) c.902C>A (p.Ala301Asp) c.614C>A (p.Ala205Asp) c.2614C>A (n.2614C>A)
3	g.15644752C=	CA1347664393	BTD	c.836C= (p.Ala279=) c.399+2695C= (n.399+2695C=) c.165+2695C= (n.165+2695C=) c.896C= (p.Ala299=) c.902C= (p.Ala301=) c.614C= (p.Ala205=) c.2614C= (n.2614C=)
3	g.15644752C>G	CA351607449	BTD	c.836C>G (p.Ala279Gly) c.399+2695C>G (n.399+2695C>G) c.165+2695C>G (n.165+2695C>G) c.896C>G (p.Ala299Gly) c.902C>G (p.Ala301Gly) c.614C>G (p.Ala205Gly) c.2614C>G (n.2614C>G)
3	g.15644752C>T	CA278274	BTD	c.836C>T (p.Ala279Val) c.399+2695C>T (n.399+2695C>T) c.165+2695C>T (n.165+2695C>T) c.896C>T (p.Ala299Val) c.902C>T (p.Ala301Val) c.614C>T (p.Ala205Val) c.2614C>T (n.2614C>T)	ClinVar dbSNP gnomAD v4
3	g.15644753T>A	CA432819540	BTD	c.837T>A (p.Ala279=) c.399+2696T>A (n.399+2696T>A) c.165+2696T>A (n.165+2696T>A) c.897T>A (p.Ala299=) c.903T>A (p.Ala301=) c.615T>A (p.Ala205=) c.2615T>A (n.2615T>A)
3	g.15644753T>C	CA432819538	BTD	c.837T>C (p.Ala279=) c.399+2696T>C (n.399+2696T>C) c.165+2696T>C (n.165+2696T>C) c.897T>C (p.Ala299=) c.903T>C (p.Ala301=) c.615T>C (p.Ala205=) c.2615T>C (n.2615T>C)
3	g.15644753T>G	CA432819539	BTD	c.837T>G (p.Ala279=) c.399+2696T>G (n.399+2696T>G) c.165+2696T>G (n.165+2696T>G) c.897T>G (p.Ala299=) c.903T>G (p.Ala301=) c.615T>G (p.Ala205=) c.2615T>G (n.2615T>G)
3	g.15644754A=	CA1347664398	BTD	c.838A= (p.Asn280=) c.399+2697A= (n.399+2697A=) c.165+2697A= (n.165+2697A=) c.898A= (p.Asn300=) c.904A= (p.Asn302=) c.616A= (p.Asn206=) c.2616A= (n.2616A=)
3	g.15644754A>C	CA278441	BTD	c.838A>C (p.Asn280His) c.399+2697A>C (n.399+2697A>C) c.165+2697A>C (n.165+2697A>C) c.898A>C (p.Asn300His) c.904A>C (p.Asn302His) c.616A>C (p.Asn206His) c.2616A>C (n.2616A>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.15644754A>G	CA351607450	BTD	c.838A>G (p.Asn280Asp) c.399+2697A>G (n.399+2697A>G) c.165+2697A>G (n.165+2697A>G) c.898A>G (p.Asn300Asp) c.904A>G (p.Asn302Asp) c.616A>G (p.Asn206Asp) c.2616A>G (n.2616A>G)
3	g.15644754A>T	CA351607451	BTD	c.838A>T (p.Asn280Tyr) c.399+2697A>T (n.399+2697A>T) c.165+2697A>T (n.165+2697A>T) c.898A>T (p.Asn300Tyr) c.904A>T (p.Asn302Tyr) c.616A>T (p.Asn206Tyr) c.2616A>T (n.2616A>T)
3	g.15644755A>C	CA351607452	BTD	c.839A>C (p.Asn280Thr) c.399+2698A>C (n.399+2698A>C) c.165+2698A>C (n.165+2698A>C) c.899A>C (p.Asn300Thr) c.905A>C (p.Asn302Thr) c.617A>C (p.Asn206Thr) c.2617A>C (n.2617A>C)
3	g.15644755A>G	CA351607453	BTD	c.839A>G (p.Asn280Ser) c.399+2698A>G (n.399+2698A>G) c.165+2698A>G (n.165+2698A>G) c.899A>G (p.Asn300Ser) c.905A>G (p.Asn302Ser) c.617A>G (p.Asn206Ser) c.2617A>G (n.2617A>G)
3	g.15644755A>T	CA351607454	BTD	c.839A>T (p.Asn280Ile) c.399+2698A>T (n.399+2698A>T) c.165+2698A>T (n.165+2698A>T) c.899A>T (p.Asn300Ile) c.905A>T (p.Asn302Ile) c.617A>T (p.Asn206Ile) c.2617A>T (n.2617A>T)
3	g.15644756T>A	CA351607455	BTD	c.840T>A (p.Asn280Lys) c.399+2699T>A (n.399+2699T>A) c.165+2699T>A (n.165+2699T>A) c.900T>A (p.Asn300Lys) c.906T>A (p.Asn302Lys) c.618T>A (p.Asn206Lys) c.2618T>A (n.2618T>A)
3	g.15644756T>C	CA432819548	BTD	c.840T>C (p.Asn280=) c.399+2699T>C (n.399+2699T>C) c.165+2699T>C (n.165+2699T>C) c.900T>C (p.Asn300=) c.906T>C (p.Asn302=) c.618T>C (p.Asn206=) c.2618T>C (n.2618T>C)	dbSNP
3	g.15644756T>G	CA351607456	BTD	c.840T>G (p.Asn280Lys) c.399+2699T>G (n.399+2699T>G) c.165+2699T>G (n.165+2699T>G) c.900T>G (p.Asn300Lys) c.906T>G (p.Asn302Lys) c.618T>G (p.Asn206Lys) c.2618T>G (n.2618T>G)
3	g.15644757G>A	CA351607457	BTD	c.841G>A (p.Val281Ile) c.399+2700G>A (n.399+2700G>A) c.165+2700G>A (n.165+2700G>A) c.901G>A (p.Val301Ile) c.907G>A (p.Val303Ile) c.619G>A (p.Val207Ile) c.2619G>A (n.2619G>A)	dbSNP
3	g.15644757G>C	CA351607458	BTD	c.841G>C (p.Val281Leu) c.399+2700G>C (n.399+2700G>C) c.165+2700G>C (n.165+2700G>C) c.901G>C (p.Val301Leu) c.907G>C (p.Val303Leu) c.619G>C (p.Val207Leu) c.2619G>C (n.2619G>C)
3	g.15644757G>T	CA351607459	BTD	c.841G>T (p.Val281Phe) c.399+2700G>T (n.399+2700G>T) c.165+2700G>T (n.165+2700G>T) c.901G>T (p.Val301Phe) c.907G>T (p.Val303Phe) c.619G>T (p.Val207Phe) c.2619G>T (n.2619G>T)
3	g.15644758T>A	CA351607462	BTD	c.842T>A (p.Val281Asp) c.399+2701T>A (n.399+2701T>A) c.165+2701T>A (n.165+2701T>A) c.902T>A (p.Val301Asp) c.908T>A (p.Val303Asp) c.620T>A (p.Val207Asp) c.2620T>A (n.2620T>A)
3	g.15644758T>C	CA351607461	BTD	c.842T>C (p.Val281Ala) c.399+2701T>C (n.399+2701T>C) c.165+2701T>C (n.165+2701T>C) c.902T>C (p.Val301Ala) c.908T>C (p.Val303Ala) c.620T>C (p.Val207Ala) c.2620T>C (n.2620T>C)
3	g.15644758T>G	CA351607460	BTD	c.842T>G (p.Val281Gly) c.399+2701T>G (n.399+2701T>G) c.165+2701T>G (n.165+2701T>G) c.902T>G (p.Val301Gly) c.908T>G (p.Val303Gly) c.620T>G (p.Val207Gly) c.2620T>G (n.2620T>G)
3	g.15644759C>A	CA432819552	BTD	c.843C>A (p.Val281=) c.399+2702C>A (n.399+2702C>A) c.165+2702C>A (n.165+2702C>A) c.903C>A (p.Val301=) c.909C>A (p.Val303=) c.621C>A (p.Val207=) c.2621C>A (n.2621C>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644759C=	CA1347664404	BTD	c.843C= (p.Val281=) c.399+2702C= (n.399+2702C=) c.165+2702C= (n.165+2702C=) c.903C= (p.Val301=) c.909C= (p.Val303=) c.621C= (p.Val207=) c.2621C= (n.2621C=)
3	g.15644759C>G	CA432819554	BTD	c.843C>G (p.Val281=) c.399+2702C>G (n.399+2702C>G) c.165+2702C>G (n.165+2702C>G) c.903C>G (p.Val301=) c.909C>G (p.Val303=) c.621C>G (p.Val207=) c.2621C>G (n.2621C>G)
3	g.15644759C>T	CA432819557	BTD	c.843C>T (p.Val281=) c.399+2702C>T (n.399+2702C>T) c.165+2702C>T (n.165+2702C>T) c.903C>T (p.Val301=) c.909C>T (p.Val303=) c.621C>T (p.Val207=) c.2621C>T (n.2621C>T)
3	g.15644760C>A	CA351607463	BTD	c.844C>A (p.His282Asn) c.399+2703C>A (n.399+2703C>A) c.165+2703C>A (n.165+2703C>A) c.904C>A (p.His302Asn) c.910C>A (p.His304Asn) c.622C>A (p.His208Asn) c.2622C>A (n.2622C>A)	gnomAD v4
3	g.15644760C=	CA1347664414	BTD	c.844C= (p.His282=) c.399+2703C= (n.399+2703C=) c.165+2703C= (n.165+2703C=) c.904C= (p.His302=) c.910C= (p.His304=) c.622C= (p.His208=) c.2622C= (n.2622C=)
3	g.15644760C>G	CA351607464	BTD	c.844C>G (p.His282Asp) c.399+2703C>G (n.399+2703C>G) c.165+2703C>G (n.165+2703C>G) c.904C>G (p.His302Asp) c.910C>G (p.His304Asp) c.622C>G (p.His208Asp) c.2622C>G (n.2622C>G)
3	g.15644760C>T	CA220337	BTD	c.844C>T (p.His282Tyr) c.399+2703C>T (n.399+2703C>T) c.165+2703C>T (n.165+2703C>T) c.904C>T (p.His302Tyr) c.910C>T (p.His304Tyr) c.622C>T (p.His208Tyr) c.2622C>T (n.2622C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.15644761A>C	CA351607465	BTD	c.845A>C (p.His282Pro) c.399+2704A>C (n.399+2704A>C) c.165+2704A>C (n.165+2704A>C) c.905A>C (p.His302Pro) c.911A>C (p.His304Pro) c.623A>C (p.His208Pro) c.2623A>C (n.2623A>C)
3	g.15644761A>G	CA351607466	BTD	c.845A>G (p.His282Arg) c.399+2704A>G (n.399+2704A>G) c.165+2704A>G (n.165+2704A>G) c.905A>G (p.His302Arg) c.911A>G (p.His304Arg) c.623A>G (p.His208Arg) c.2623A>G (n.2623A>G)
3	g.15644761A>T	CA351607467	BTD	c.845A>T (p.His282Leu) c.399+2704A>T (n.399+2704A>T) c.165+2704A>T (n.165+2704A>T) c.905A>T (p.His302Leu) c.911A>T (p.His304Leu) c.623A>T (p.His208Leu) c.2623A>T (n.2623A>T)
3	g.15644762C>A	CA351607468	BTD	c.846C>A (p.His282Gln) c.399+2705C>A (n.399+2705C>A) c.165+2705C>A (n.165+2705C>A) c.906C>A (p.His302Gln) c.912C>A (p.His304Gln) c.624C>A (p.His208Gln) c.2624C>A (n.2624C>A)	gnomAD v4
3	g.15644762C>G	CA351607469	BTD	c.846C>G (p.His282Gln) c.399+2705C>G (n.399+2705C>G) c.165+2705C>G (n.165+2705C>G) c.906C>G (p.His302Gln) c.912C>G (p.His304Gln) c.624C>G (p.His208Gln) c.2624C>G (n.2624C>G)	ClinVar dbSNP
3	g.15644762C>T	CA432819564	BTD	c.846C>T (p.His282=) c.399+2705C>T (n.399+2705C>T) c.165+2705C>T (n.165+2705C>T) c.906C>T (p.His302=) c.912C>T (p.His304=) c.624C>T (p.His208=) c.2624C>T (n.2624C>T)	ClinVar
3	g.15644763C>A	CA351607470	BTD	c.847C>A (p.His283Asn) c.399+2706C>A (n.399+2706C>A) c.165+2706C>A (n.165+2706C>A) c.907C>A (p.His303Asn) c.913C>A (p.His305Asn) c.625C>A (p.His209Asn) c.2625C>A (n.2625C>A)
3	g.15644763C=	CA1347664423	BTD	c.847C= (p.His283=) c.399+2706C= (n.399+2706C=) c.165+2706C= (n.165+2706C=) c.907C= (p.His303=) c.913C= (p.His305=) c.625C= (p.His209=) c.2625C= (n.2625C=)
3	g.15644763C>G	CA351607471	BTD	c.847C>G (p.His283Asp) c.399+2706C>G (n.399+2706C>G) c.165+2706C>G (n.165+2706C>G) c.907C>G (p.His303Asp) c.913C>G (p.His305Asp) c.625C>G (p.His209Asp) c.2625C>G (n.2625C>G)
3	g.15644763C>T	CA2277394	BTD	c.847C>T (p.His283Tyr) c.399+2706C>T (n.399+2706C>T) c.165+2706C>T (n.165+2706C>T) c.907C>T (p.His303Tyr) c.913C>T (p.His305Tyr) c.625C>T (p.His209Tyr) c.2625C>T (n.2625C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644764A>C	CA351607474	BTD	c.848A>C (p.His283Pro) c.399+2707A>C (n.399+2707A>C) c.165+2707A>C (n.165+2707A>C) c.908A>C (p.His303Pro) c.914A>C (p.His305Pro) c.626A>C (p.His209Pro) c.2626A>C (n.2626A>C)
3	g.15644764A>G	CA351607473	BTD	c.848A>G (p.His283Arg) c.399+2707A>G (n.399+2707A>G) c.165+2707A>G (n.165+2707A>G) c.908A>G (p.His303Arg) c.914A>G (p.His305Arg) c.626A>G (p.His209Arg) c.2626A>G (n.2626A>G)
3	g.15644764A>T	CA351607472	BTD	c.848A>T (p.His283Leu) c.399+2707A>T (n.399+2707A>T) c.165+2707A>T (n.165+2707A>T) c.908A>T (p.His303Leu) c.914A>T (p.His305Leu) c.626A>T (p.His209Leu) c.2626A>T (n.2626A>T)
3	g.15644765C>A	CA351607475	BTD	c.849C>A (p.His283Gln) c.399+2708C>A (n.399+2708C>A) c.165+2708C>A (n.165+2708C>A) c.909C>A (p.His303Gln) c.915C>A (p.His305Gln) c.627C>A (p.His209Gln) c.2627C>A (n.2627C>A)
3	g.15644765C>G	CA351607476	BTD	c.849C>G (p.His283Gln) c.399+2708C>G (n.399+2708C>G) c.165+2708C>G (n.165+2708C>G) c.909C>G (p.His303Gln) c.915C>G (p.His305Gln) c.627C>G (p.His209Gln) c.2627C>G (n.2627C>G)
3	g.15644765C>T	CA432819568	BTD	c.849C>T (p.His283=) c.399+2708C>T (n.399+2708C>T) c.165+2708C>T (n.165+2708C>T) c.909C>T (p.His303=) c.915C>T (p.His305=) c.627C>T (p.His209=) c.2627C>T (n.2627C>T)
3	g.15644766C>A	CA351607477	BTD	c.850C>A (p.Pro284Thr) c.399+2709C>A (n.399+2709C>A) c.165+2709C>A (n.165+2709C>A) c.910C>A (p.Pro304Thr) c.916C>A (p.Pro306Thr) c.628C>A (p.Pro210Thr) c.2628C>A (n.2628C>A)
3	g.15644766C>G	CA351607478	BTD	c.850C>G (p.Pro284Ala) c.399+2709C>G (n.399+2709C>G) c.165+2709C>G (n.165+2709C>G) c.910C>G (p.Pro304Ala) c.916C>G (p.Pro306Ala) c.628C>G (p.Pro210Ala) c.2628C>G (n.2628C>G)
3	g.15644766C>T	CA351607479	BTD	c.850C>T (p.Pro284Ser) c.399+2709C>T (n.399+2709C>T) c.165+2709C>T (n.165+2709C>T) c.910C>T (p.Pro304Ser) c.916C>T (p.Pro306Ser) c.628C>T (p.Pro210Ser) c.2628C>T (n.2628C>T)
3	g.15644767C>A	CA351607480	BTD	c.851C>A (p.Pro284Gln) c.399+2710C>A (n.399+2710C>A) c.165+2710C>A (n.165+2710C>A) c.911C>A (p.Pro304Gln) c.917C>A (p.Pro306Gln) c.629C>A (p.Pro210Gln) c.2629C>A (n.2629C>A)
3	g.15644767C>G	CA351607481	BTD	c.851C>G (p.Pro284Arg) c.399+2710C>G (n.399+2710C>G) c.165+2710C>G (n.165+2710C>G) c.911C>G (p.Pro304Arg) c.917C>G (p.Pro306Arg) c.629C>G (p.Pro210Arg) c.2629C>G (n.2629C>G)
3	g.15644767C>T	CA351607482	BTD	c.851C>T (p.Pro284Leu) c.399+2710C>T (n.399+2710C>T) c.165+2710C>T (n.165+2710C>T) c.911C>T (p.Pro304Leu) c.917C>T (p.Pro306Leu) c.629C>T (p.Pro210Leu) c.2629C>T (n.2629C>T)	gnomAD v4
3	g.15644768A=	CA1347664430	BTD	c.852A= (p.Pro284=) c.399+2711A= (n.399+2711A=) c.165+2711A= (n.165+2711A=) c.912A= (p.Pro304=) c.918A= (p.Pro306=) c.630A= (p.Pro210=) c.2630A= (n.2630A=)
3	g.15644768A>C	CA432819574	BTD	c.852A>C (p.Pro284=) c.399+2711A>C (n.399+2711A>C) c.165+2711A>C (n.165+2711A>C) c.912A>C (p.Pro304=) c.918A>C (p.Pro306=) c.630A>C (p.Pro210=) c.2630A>C (n.2630A>C)	gnomAD v4
3	g.15644768A>G	CA2277395	BTD	c.852A>G (p.Pro284=) c.399+2711A>G (n.399+2711A>G) c.165+2711A>G (n.165+2711A>G) c.912A>G (p.Pro304=) c.918A>G (p.Pro306=) c.630A>G (p.Pro210=) c.2630A>G (n.2630A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644768A>T	CA432819576	BTD	c.852A>T (p.Pro284=) c.399+2711A>T (n.399+2711A>T) c.165+2711A>T (n.165+2711A>T) c.912A>T (p.Pro304=) c.918A>T (p.Pro306=) c.630A>T (p.Pro210=) c.2630A>T (n.2630A>T)
3	g.15644769G>A	CA351607483	BTD	c.853G>A (p.Val285Ile) c.399+2712G>A (n.399+2712G>A) c.165+2712G>A (n.165+2712G>A) c.913G>A (p.Val305Ile) c.919G>A (p.Val307Ile) c.631G>A (p.Val211Ile) c.2631G>A (n.2631G>A)
3	g.15644769G>C	CA70622298	BTD	c.853G>C (p.Val285Leu) c.399+2712G>C (n.399+2712G>C) c.165+2712G>C (n.165+2712G>C) c.913G>C (p.Val305Leu) c.919G>C (p.Val307Leu) c.631G>C (p.Val211Leu) c.2631G>C (n.2631G>C)	dbSNP
3	g.15644769G=	CA1347664432	BTD	c.853G= (p.Val285=) c.399+2712G= (n.399+2712G=) c.165+2712G= (n.165+2712G=) c.913G= (p.Val305=) c.919G= (p.Val307=) c.631G= (p.Val211=) c.2631G= (n.2631G=)
3	g.15644769G>T	CA351607484	BTD	c.853G>T (p.Val285Phe) c.399+2712G>T (n.399+2712G>T) c.165+2712G>T (n.165+2712G>T) c.913G>T (p.Val305Phe) c.919G>T (p.Val307Phe) c.631G>T (p.Val211Phe) c.2631G>T (n.2631G>T)
3	g.15644770T>A	CA351607487	BTD	c.854T>A (p.Val285Asp) c.399+2713T>A (n.399+2713T>A) c.165+2713T>A (n.165+2713T>A) c.914T>A (p.Val305Asp) c.920T>A (p.Val307Asp) c.632T>A (p.Val211Asp) c.2632T>A (n.2632T>A)
3	g.15644770T>C	CA351607486	BTD	c.854T>C (p.Val285Ala) c.399+2713T>C (n.399+2713T>C) c.165+2713T>C (n.165+2713T>C) c.914T>C (p.Val305Ala) c.920T>C (p.Val307Ala) c.632T>C (p.Val211Ala) c.2632T>C (n.2632T>C)
3	g.15644770T>G	CA351607485	BTD	c.854T>G (p.Val285Gly) c.399+2713T>G (n.399+2713T>G) c.165+2713T>G (n.165+2713T>G) c.914T>G (p.Val305Gly) c.920T>G (p.Val307Gly) c.632T>G (p.Val211Gly) c.2632T>G (n.2632T>G)
3	g.15644771T>A	CA432819581	BTD	c.855T>A (p.Val285=) c.399+2714T>A (n.399+2714T>A) c.165+2714T>A (n.165+2714T>A) c.915T>A (p.Val305=) c.921T>A (p.Val307=) c.633T>A (p.Val211=) c.2633T>A (n.2633T>A)
3	g.15644771T>C	CA432819582	BTD	c.855T>C (p.Val285=) c.399+2714T>C (n.399+2714T>C) c.165+2714T>C (n.165+2714T>C) c.915T>C (p.Val305=) c.921T>C (p.Val307=) c.633T>C (p.Val211=) c.2633T>C (n.2633T>C)
3	g.15644771T>G	CA432819583	BTD	c.855T>G (p.Val285=) c.399+2714T>G (n.399+2714T>G) c.165+2714T>G (n.165+2714T>G) c.915T>G (p.Val305=) c.921T>G (p.Val307=) c.633T>G (p.Val211=) c.2633T>G (n.2633T>G)	ClinVar dbSNP gnomAD v4
3	g.15644772C>A	CA351607488	BTD	c.856C>A (p.Leu286Met) c.399+2715C>A (n.399+2715C>A) c.165+2715C>A (n.165+2715C>A) c.916C>A (p.Leu306Met) c.922C>A (p.Leu308Met) c.634C>A (p.Leu212Met) c.2634C>A (n.2634C>A)	gnomAD v4
3	g.15644772C>G	CA351607489	BTD	c.856C>G (p.Leu286Val) c.399+2715C>G (n.399+2715C>G) c.165+2715C>G (n.165+2715C>G) c.916C>G (p.Leu306Val) c.922C>G (p.Leu308Val) c.634C>G (p.Leu212Val) c.2634C>G (n.2634C>G)
3	g.15644772C>T	CA432819584	BTD	c.856C>T (p.Leu286=) c.399+2715C>T (n.399+2715C>T) c.165+2715C>T (n.165+2715C>T) c.916C>T (p.Leu306=) c.922C>T (p.Leu308=) c.634C>T (p.Leu212=) c.2634C>T (n.2634C>T)
3	g.15644773T>A	CA351607490	BTD	c.857T>A (p.Leu286Gln) c.399+2716T>A (n.399+2716T>A) c.165+2716T>A (n.165+2716T>A) c.917T>A (p.Leu306Gln) c.923T>A (p.Leu308Gln) c.635T>A (p.Leu212Gln) c.2635T>A (n.2635T>A)	gnomAD v4
3	g.15644773T>C	CA351607491	BTD	c.857T>C (p.Leu286Pro) c.399+2716T>C (n.399+2716T>C) c.165+2716T>C (n.165+2716T>C) c.917T>C (p.Leu306Pro) c.923T>C (p.Leu308Pro) c.635T>C (p.Leu212Pro) c.2635T>C (n.2635T>C)
3	g.15644773T>G	CA351607492	BTD	c.857T>G (p.Leu286Arg) c.399+2716T>G (n.399+2716T>G) c.165+2716T>G (n.165+2716T>G) c.917T>G (p.Leu306Arg) c.923T>G (p.Leu308Arg) c.635T>G (p.Leu212Arg) c.2635T>G (n.2635T>G)
3	g.15644774G>A	CA2277396	BTD	c.858G>A (p.Leu286=) c.399+2717G>A (n.399+2717G>A) c.165+2717G>A (n.165+2717G>A) c.918G>A (p.Leu306=) c.924G>A (p.Leu308=) c.636G>A (p.Leu212=) c.2636G>A (n.2636G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.15644774G>C	CA432819589	BTD	c.858G>C (p.Leu286=) c.399+2717G>C (n.399+2717G>C) c.165+2717G>C (n.165+2717G>C) c.918G>C (p.Leu306=) c.924G>C (p.Leu308=) c.636G>C (p.Leu212=) c.2636G>C (n.2636G>C)
3	g.15644774G=	CA1347664435	BTD	c.858G= (p.Leu286=) c.399+2717G= (n.399+2717G=) c.165+2717G= (n.165+2717G=) c.918G= (p.Leu306=) c.924G= (p.Leu308=) c.636G= (p.Leu212=) c.2636G= (n.2636G=)
3	g.15644774G>T	CA432819588	BTD	c.858G>T (p.Leu286=) c.399+2717G>T (n.399+2717G>T) c.165+2717G>T (n.165+2717G>T) c.918G>T (p.Leu306=) c.924G>T (p.Leu308=) c.636G>T (p.Leu212=) c.2636G>T (n.2636G>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.15644775G>A	CA351607493	BTD	c.859G>A (p.Gly287Arg) c.399+2718G>A (n.399+2718G>A) c.165+2718G>A (n.165+2718G>A) c.919G>A (p.Gly307Arg) c.925G>A (p.Gly309Arg) c.637G>A (p.Gly213Arg) c.2637G>A (n.2637G>A)	gnomAD v4
3	g.15644775G>C	CA351607494	BTD	c.859G>C (p.Gly287Arg) c.399+2718G>C (n.399+2718G>C) c.165+2718G>C (n.165+2718G>C) c.919G>C (p.Gly307Arg) c.925G>C (p.Gly309Arg) c.637G>C (p.Gly213Arg) c.2637G>C (n.2637G>C)
3	g.15644775G>T	CA351607495	BTD	c.859G>T (p.Gly287Trp) c.399+2718G>T (n.399+2718G>T) c.165+2718G>T (n.165+2718G>T) c.919G>T (p.Gly307Trp) c.925G>T (p.Gly309Trp) c.637G>T (p.Gly213Trp) c.2637G>T (n.2637G>T)
3	g.15644776G>A	CA351607496	BTD	c.860G>A (p.Gly287Glu) c.399+2719G>A (n.399+2719G>A) c.165+2719G>A (n.165+2719G>A) c.920G>A (p.Gly307Glu) c.926G>A (p.Gly309Glu) c.638G>A (p.Gly213Glu) c.2638G>A (n.2638G>A)	gnomAD v4
3	g.15644776G>C	CA351607497	BTD	c.860G>C (p.Gly287Ala) c.399+2719G>C (n.399+2719G>C) c.165+2719G>C (n.165+2719G>C) c.920G>C (p.Gly307Ala) c.926G>C (p.Gly309Ala) c.638G>C (p.Gly213Ala) c.2638G>C (n.2638G>C)
3	g.15644776G>T	CA351607498	BTD	c.860G>T (p.Gly287Val) c.399+2719G>T (n.399+2719G>T) c.165+2719G>T (n.165+2719G>T) c.920G>T (p.Gly307Val) c.926G>T (p.Gly309Val) c.638G>T (p.Gly213Val) c.2638G>T (n.2638G>T)
3	g.15644777G>A	CA432819597	BTD	c.861G>A (p.Gly287=) c.399+2720G>A (n.399+2720G>A) c.165+2720G>A (n.165+2720G>A) c.921G>A (p.Gly307=) c.927G>A (p.Gly309=) c.639G>A (p.Gly213=) c.2639G>A (n.2639G>A)	gnomAD v4
3	g.15644777G>C	CA432819598	BTD	c.861G>C (p.Gly287=) c.399+2720G>C (n.399+2720G>C) c.165+2720G>C (n.165+2720G>C) c.921G>C (p.Gly307=) c.927G>C (p.Gly309=) c.639G>C (p.Gly213=) c.2639G>C (n.2639G>C)
3	g.15644777G=	CA1347664437	BTD	c.861G= (p.Gly287=) c.399+2720G= (n.399+2720G=) c.165+2720G= (n.165+2720G=) c.921G= (p.Gly307=) c.927G= (p.Gly309=) c.639G= (p.Gly213=) c.2639G= (n.2639G=)
3	g.15644777G>T	CA432819599	BTD	c.861G>T (p.Gly287=) c.399+2720G>T (n.399+2720G>T) c.165+2720G>T (n.165+2720G>T) c.921G>T (p.Gly307=) c.927G>T (p.Gly309=) c.639G>T (p.Gly213=) c.2639G>T (n.2639G>T)	dbSNP
3	g.15644778A=	CA1347664443	BTD	c.862A= (p.Met288=) c.399+2721A= (n.399+2721A=) c.165+2721A= (n.165+2721A=) c.922A= (p.Met308=) c.928A= (p.Met310=) c.640A= (p.Met214=) c.2640A= (n.2640A=)
3	g.15644778A>C	CA2277398	BTD	c.862A>C (p.Met288Leu) c.399+2721A>C (n.399+2721A>C) c.165+2721A>C (n.165+2721A>C) c.922A>C (p.Met308Leu) c.928A>C (p.Met310Leu) c.640A>C (p.Met214Leu) c.2640A>C (n.2640A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.15644778A>G	CA2277397	BTD	c.862A>G (p.Met288Val) c.399+2721A>G (n.399+2721A>G) c.165+2721A>G (n.165+2721A>G) c.922A>G (p.Met308Val) c.928A>G (p.Met310Val) c.640A>G (p.Met214Val) c.2640A>G (n.2640A>G)	dbSNP ExAC gnomAD v2
3	g.15644778A>T	CA351607499	BTD	c.862A>T (p.Met288Leu) c.399+2721A>T (n.399+2721A>T) c.165+2721A>T (n.165+2721A>T) c.922A>T (p.Met308Leu) c.928A>T (p.Met310Leu) c.640A>T (p.Met214Leu) c.2640A>T (n.2640A>T)
3	g.15644779T>A	CA351607500	BTD	c.863T>A (p.Met288Lys) c.399+2722T>A (n.399+2722T>A) c.165+2722T>A (n.165+2722T>A) c.923T>A (p.Met308Lys) c.929T>A (p.Met310Lys) c.641T>A (p.Met214Lys) c.2641T>A (n.2641T>A)
3	g.15644779T>C	CA351607501	BTD	c.863T>C (p.Met288Thr) c.399+2722T>C (n.399+2722T>C) c.165+2722T>C (n.165+2722T>C) c.923T>C (p.Met308Thr) c.929T>C (p.Met310Thr) c.641T>C (p.Met214Thr) c.2641T>C (n.2641T>C)
3	g.15644779T>G	CA351607502	BTD	c.863T>G (p.Met288Arg) c.399+2722T>G (n.399+2722T>G) c.165+2722T>G (n.165+2722T>G) c.923T>G (p.Met308Arg) c.929T>G (p.Met310Arg) c.641T>G (p.Met214Arg) c.2641T>G (n.2641T>G)
3	g.15644780G>A	CA351607503	BTD	c.864G>A (p.Met288Ile) c.399+2723G>A (n.399+2723G>A) c.165+2723G>A (n.165+2723G>A) c.924G>A (p.Met308Ile) c.930G>A (p.Met310Ile) c.642G>A (p.Met214Ile) c.2642G>A (n.2642G>A)	gnomAD v4
3	g.15644780G>C	CA351607504	BTD	c.864G>C (p.Met288Ile) c.399+2723G>C (n.399+2723G>C) c.165+2723G>C (n.165+2723G>C) c.924G>C (p.Met308Ile) c.930G>C (p.Met310Ile) c.642G>C (p.Met214Ile) c.2642G>C (n.2642G>C)
3	g.15644780G>T	CA351607505	BTD	c.864G>T (p.Met288Ile) c.399+2723G>T (n.399+2723G>T) c.165+2723G>T (n.165+2723G>T) c.924G>T (p.Met308Ile) c.930G>T (p.Met310Ile) c.642G>T (p.Met214Ile) c.2642G>T (n.2642G>T)
3	g.15644781A>C	CA351607508	BTD	c.865A>C (p.Thr289Pro) c.399+2724A>C (n.399+2724A>C) c.165+2724A>C (n.165+2724A>C) c.925A>C (p.Thr309Pro) c.931A>C (p.Thr311Pro) c.643A>C (p.Thr215Pro) c.2643A>C (n.2643A>C)
3	g.15644781A>G	CA351607507	BTD	c.865A>G (p.Thr289Ala) c.399+2724A>G (n.399+2724A>G) c.165+2724A>G (n.165+2724A>G) c.925A>G (p.Thr309Ala) c.931A>G (p.Thr311Ala) c.643A>G (p.Thr215Ala) c.2643A>G (n.2643A>G)
3	g.15644781A>T	CA351607506	BTD	c.865A>T (p.Thr289Ser) c.399+2724A>T (n.399+2724A>T) c.165+2724A>T (n.165+2724A>T) c.925A>T (p.Thr309Ser) c.931A>T (p.Thr311Ser) c.643A>T (p.Thr215Ser) c.2643A>T (n.2643A>T)
3	g.15644782C>A	CA351607509	BTD	c.866C>A (p.Thr289Lys) c.399+2725C>A (n.399+2725C>A) c.165+2725C>A (n.165+2725C>A) c.926C>A (p.Thr309Lys) c.932C>A (p.Thr311Lys) c.644C>A (p.Thr215Lys) c.2644C>A (n.2644C>A)
3	g.15644782C>G	CA351607510	BTD	c.866C>G (p.Thr289Arg) c.399+2725C>G (n.399+2725C>G) c.165+2725C>G (n.165+2725C>G) c.926C>G (p.Thr309Arg) c.932C>G (p.Thr311Arg) c.644C>G (p.Thr215Arg) c.2644C>G (n.2644C>G)
3	g.15644782C>T	CA351607511	BTD	c.866C>T (p.Thr289Ile) c.399+2725C>T (n.399+2725C>T) c.165+2725C>T (n.165+2725C>T) c.926C>T (p.Thr309Ile) c.932C>T (p.Thr311Ile) c.644C>T (p.Thr215Ile) c.2644C>T (n.2644C>T)
3	g.15644783A=	CA1347664449	BTD	c.867A= (p.Thr289=) c.399+2726A= (n.399+2726A=) c.165+2726A= (n.165+2726A=) c.927A= (p.Thr309=) c.933A= (p.Thr311=) c.645A= (p.Thr215=) c.2645A= (n.2645A=)
3	g.15644783A>C	CA432819604	BTD	c.867A>C (p.Thr289=) c.399+2726A>C (n.399+2726A>C) c.165+2726A>C (n.165+2726A>C) c.927A>C (p.Thr309=) c.933A>C (p.Thr311=) c.645A>C (p.Thr215=) c.2645A>C (n.2645A>C)
3	g.15644783A>G	CA70622307	BTD	c.867A>G (p.Thr289=) c.399+2726A>G (n.399+2726A>G) c.165+2726A>G (n.165+2726A>G) c.927A>G (p.Thr309=) c.933A>G (p.Thr311=) c.645A>G (p.Thr215=) c.2645A>G (n.2645A>G)	ClinVar dbSNP gnomAD v4
3	g.15644783A>T	CA432819605	BTD	c.867A>T (p.Thr289=) c.399+2726A>T (n.399+2726A>T) c.165+2726A>T (n.165+2726A>T) c.927A>T (p.Thr309=) c.933A>T (p.Thr311=) c.645A>T (p.Thr215=) c.2645A>T (n.2645A>T)
3	g.15644784G>A	CA351607512	BTD	c.868G>A (p.Gly290Arg) c.399+2727G>A (n.399+2727G>A) c.165+2727G>A (n.165+2727G>A) c.928G>A (p.Gly310Arg) c.934G>A (p.Gly312Arg) c.646G>A (p.Gly216Arg) c.2646G>A (n.2646G>A)
3	g.15644784G>C	CA351607513	BTD	c.868G>C (p.Gly290Arg) c.399+2727G>C (n.399+2727G>C) c.165+2727G>C (n.165+2727G>C) c.928G>C (p.Gly310Arg) c.934G>C (p.Gly312Arg) c.646G>C (p.Gly216Arg) c.2646G>C (n.2646G>C)
3	g.15644784G>T	CA351607514	BTD	c.868G>T (p.Gly290Ter) c.399+2727G>T (n.399+2727G>T) c.165+2727G>T (n.165+2727G>T) c.928G>T (p.Gly310Ter) c.934G>T (p.Gly312Ter) c.646G>T (p.Gly216Ter) c.2646G>T (n.2646G>T)
3	g.15644785G>A	CA278276	BTD	c.869G>A (p.Gly290Glu) c.399+2728G>A (n.399+2728G>A) c.165+2728G>A (n.165+2728G>A) c.929G>A (p.Gly310Glu) c.935G>A (p.Gly312Glu) c.647G>A (p.Gly216Glu) c.2647G>A (n.2647G>A)	ClinVar dbSNP
3	g.15644785G>C	CA351607516	BTD	c.869G>C (p.Gly290Ala) c.399+2728G>C (n.399+2728G>C) c.165+2728G>C (n.165+2728G>C) c.929G>C (p.Gly310Ala) c.935G>C (p.Gly312Ala) c.647G>C (p.Gly216Ala) c.2647G>C (n.2647G>C)
3	g.15644785G=	CA1347664455	BTD	c.869G= (p.Gly290=) c.399+2728G= (n.399+2728G=) c.165+2728G= (n.165+2728G=) c.929G= (p.Gly310=) c.935G= (p.Gly312=) c.647G= (p.Gly216=) c.2647G= (n.2647G=)
3	g.15644785G>T	CA351607515	BTD	c.869G>T (p.Gly290Val) c.399+2728G>T (n.399+2728G>T) c.165+2728G>T (n.165+2728G>T) c.929G>T (p.Gly310Val) c.935G>T (p.Gly312Val) c.647G>T (p.Gly216Val) c.2647G>T (n.2647G>T)
3	g.15644786A>C	CA432819610	BTD	c.870A>C (p.Gly290=) c.399+2729A>C (n.399+2729A>C) c.165+2729A>C (n.165+2729A>C) c.930A>C (p.Gly310=) c.936A>C (p.Gly312=) c.648A>C (p.Gly216=) c.2648A>C (n.2648A>C)
3	g.15644786A>G	CA432819609	BTD	c.870A>G (p.Gly290=) c.399+2729A>G (n.399+2729A>G) c.165+2729A>G (n.165+2729A>G) c.930A>G (p.Gly310=) c.936A>G (p.Gly312=) c.648A>G (p.Gly216=) c.2648A>G (n.2648A>G)
3	g.15644786A>T	CA432819608	BTD	c.870A>T (p.Gly290=) c.399+2729A>T (n.399+2729A>T) c.165+2729A>T (n.165+2729A>T) c.930A>T (p.Gly310=) c.936A>T (p.Gly312=) c.648A>T (p.Gly216=) c.2648A>T (n.2648A>T)	ClinVar gnomAD v4
3	g.15644787A>C	CA351607517	BTD	c.871A>C (p.Ser291Arg) c.399+2730A>C (n.399+2730A>C) c.165+2730A>C (n.165+2730A>C) c.931A>C (p.Ser311Arg) c.937A>C (p.Ser313Arg) c.649A>C (p.Ser217Arg) c.2649A>C (n.2649A>C)
3	g.15644787A>G	CA351607518	BTD	c.871A>G (p.Ser291Gly) c.399+2730A>G (n.399+2730A>G) c.165+2730A>G (n.165+2730A>G) c.931A>G (p.Ser311Gly) c.937A>G (p.Ser313Gly) c.649A>G (p.Ser217Gly) c.2649A>G (n.2649A>G)
3	g.15644787A>T	CA351607519	BTD	c.871A>T (p.Ser291Cys) c.399+2730A>T (n.399+2730A>T) c.165+2730A>T (n.165+2730A>T) c.931A>T (p.Ser311Cys) c.937A>T (p.Ser313Cys) c.649A>T (p.Ser217Cys) c.2649A>T (n.2649A>T)
3	g.15644788G>A	CA278278	BTD	c.872G>A (p.Ser291Asn) c.399+2731G>A (n.399+2731G>A) c.165+2731G>A (n.165+2731G>A) c.932G>A (p.Ser311Asn) c.938G>A (p.Ser313Asn) c.650G>A (p.Ser217Asn) c.2650G>A (n.2650G>A)	dbSNP
3	g.15644788G>C	CA351607520	BTD	c.872G>C (p.Ser291Thr) c.399+2731G>C (n.399+2731G>C) c.165+2731G>C (n.165+2731G>C) c.932G>C (p.Ser311Thr) c.938G>C (p.Ser313Thr) c.650G>C (p.Ser217Thr) c.2650G>C (n.2650G>C)	gnomAD v4
3	g.15644788G=	CA1347664461	BTD	c.872G= (p.Ser291=) c.399+2731G= (n.399+2731G=) c.165+2731G= (n.165+2731G=) c.932G= (p.Ser311=) c.938G= (p.Ser313=) c.650G= (p.Ser217=) c.2650G= (n.2650G=)
3	g.15644788G>T	CA351607521	BTD	c.872G>T (p.Ser291Ile) c.399+2731G>T (n.399+2731G>T) c.165+2731G>T (n.165+2731G>T) c.932G>T (p.Ser311Ile) c.938G>T (p.Ser313Ile) c.650G>T (p.Ser217Ile) c.2650G>T (n.2650G>T)
3	g.15644788_15644789delinsGT	CA1347664464	BTD	c.872_873delinsGT (p.Ser291=) c.399+2731_399+2732delinsGT (n.399+2731_399+2732delinsGT) c.165+2731_165+2732delinsGT (n.165+2731_165+2732delinsGT) c.932_933delinsGT (p.Ser311=) c.938_939delinsGT (p.Ser313=) c.650_651delinsGT (p.Ser217=) c.2650_2651delinsGT (n.2650_2651delinsGT)
3	g.15644789del	CA278280	BTD	c.873del (p.Ser291ArgfsTer23) c.399+2732del (n.399+2732del) c.165+2732del (n.165+2732del) c.933del (p.Ser311ArgfsTer23) c.939del (p.Ser313ArgfsTer23) c.651del (p.Ser217ArgfsTer23) c.2651del (n.2651del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.15644789T>A	CA351607522	BTD	c.873T>A (p.Ser291Arg) c.399+2732T>A (n.399+2732T>A) c.165+2732T>A (n.165+2732T>A) c.933T>A (p.Ser311Arg) c.939T>A (p.Ser313Arg) c.651T>A (p.Ser217Arg) c.2651T>A (n.2651T>A)
3	g.15644789T>C	CA432819618	BTD	c.873T>C (p.Ser291=) c.399+2732T>C (n.399+2732T>C) c.165+2732T>C (n.165+2732T>C) c.933T>C (p.Ser311=) c.939T>C (p.Ser313=) c.651T>C (p.Ser217=) c.2651T>C (n.2651T>C)
3	g.15644789T>G	CA278281	BTD	c.873T>G (p.Ser291Arg) c.399+2732T>G (n.399+2732T>G) c.165+2732T>G (n.165+2732T>G) c.933T>G (p.Ser311Arg) c.939T>G (p.Ser313Arg) c.651T>G (p.Ser217Arg) c.2651T>G (n.2651T>G)	dbSNP
3	g.15644789T=	CA1347664473	BTD	c.873T= (p.Ser291=) c.399+2732T= (n.399+2732T=) c.165+2732T= (n.165+2732T=) c.933T= (p.Ser311=) c.939T= (p.Ser313=) c.651T= (p.Ser217=) c.2651T= (n.2651T=)
3	g.15644790G>A	CA278283	BTD	c.874G>A (p.Gly292Ser) c.399+2733G>A (n.399+2733G>A) c.165+2733G>A (n.165+2733G>A) c.934G>A (p.Gly312Ser) c.940G>A (p.Gly314Ser) c.652G>A (p.Gly218Ser) c.2652G>A (n.2652G>A)	ClinVar dbSNP gnomAD v4
3	g.15644790G>C	CA351607523	BTD	c.874G>C (p.Gly292Arg) c.399+2733G>C (n.399+2733G>C) c.165+2733G>C (n.165+2733G>C) c.934G>C (p.Gly312Arg) c.940G>C (p.Gly314Arg) c.652G>C (p.Gly218Arg) c.2652G>C (n.2652G>C)
3	g.15644790G=	CA1347664477	BTD	c.874G= (p.Gly292=) c.399+2733G= (n.399+2733G=) c.165+2733G= (n.165+2733G=) c.934G= (p.Gly312=) c.940G= (p.Gly314=) c.652G= (p.Gly218=) c.2652G= (n.2652G=)
3	g.15644790G>T	CA351607524	BTD	c.874G>T (p.Gly292Cys) c.399+2733G>T (n.399+2733G>T) c.165+2733G>T (n.165+2733G>T) c.934G>T (p.Gly312Cys) c.940G>T (p.Gly314Cys) c.652G>T (p.Gly218Cys) c.2652G>T (n.2652G>T)
3	g.15644791G>A	CA278285	BTD	c.875G>A (p.Gly292Asp) c.399+2734G>A (n.399+2734G>A) c.165+2734G>A (n.165+2734G>A) c.935G>A (p.Gly312Asp) c.941G>A (p.Gly314Asp) c.653G>A (p.Gly218Asp) c.2653G>A (n.2653G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
3	g.15644791G>C	CA351607525	BTD	c.875G>C (p.Gly292Ala) c.399+2734G>C (n.399+2734G>C) c.165+2734G>C (n.165+2734G>C) c.935G>C (p.Gly312Ala) c.941G>C (p.Gly314Ala) c.653G>C (p.Gly218Ala) c.2653G>C (n.2653G>C)
3	g.15644791G=	CA1347664482	BTD	c.875G= (p.Gly292=) c.399+2734G= (n.399+2734G=) c.165+2734G= (n.165+2734G=) c.935G= (p.Gly312=) c.941G= (p.Gly314=) c.653G= (p.Gly218=) c.2653G= (n.2653G=)
3	g.15644791G>T	CA351607526	BTD	c.875G>T (p.Gly292Val) c.399+2734G>T (n.399+2734G>T) c.165+2734G>T (n.165+2734G>T) c.935G>T (p.Gly312Val) c.941G>T (p.Gly314Val) c.653G>T (p.Gly218Val) c.2653G>T (n.2653G>T)	ClinVar dbSNP gnomAD v4
3	g.15644792C>A	CA432819625	BTD	c.876C>A (p.Gly292=) c.399+2735C>A (n.399+2735C>A) c.165+2735C>A (n.165+2735C>A) c.936C>A (p.Gly312=) c.942C>A (p.Gly314=) c.654C>A (p.Gly218=) c.2654C>A (n.2654C>A)	ClinVar
3	g.15644792C>G	CA432819626	BTD	c.876C>G (p.Gly292=) c.399+2735C>G (n.399+2735C>G) c.165+2735C>G (n.165+2735C>G) c.936C>G (p.Gly312=) c.942C>G (p.Gly314=) c.654C>G (p.Gly218=) c.2654C>G (n.2654C>G)
3	g.15644792C>T	CA432819627	BTD	c.876C>T (p.Gly292=) c.399+2735C>T (n.399+2735C>T) c.165+2735C>T (n.165+2735C>T) c.936C>T (p.Gly312=) c.942C>T (p.Gly314=) c.654C>T (p.Gly218=) c.2654C>T (n.2654C>T)
3	g.15644793A>C	CA351607527	BTD	c.877A>C (p.Ile293Leu) c.399+2736A>C (n.399+2736A>C) c.165+2736A>C (n.165+2736A>C) c.937A>C (p.Ile313Leu) c.943A>C (p.Ile315Leu) c.655A>C (p.Ile219Leu) c.2655A>C (n.2655A>C)
3	g.15644793A>G	CA351607528	BTD	c.877A>G (p.Ile293Val) c.399+2736A>G (n.399+2736A>G) c.165+2736A>G (n.165+2736A>G) c.937A>G (p.Ile313Val) c.943A>G (p.Ile315Val) c.655A>G (p.Ile219Val) c.2655A>G (n.2655A>G)
3	g.15644793A>T	CA351607529	BTD	c.877A>T (p.Ile293Leu) c.399+2736A>T (n.399+2736A>T) c.165+2736A>T (n.165+2736A>T) c.937A>T (p.Ile313Leu) c.943A>T (p.Ile315Leu) c.655A>T (p.Ile219Leu) c.2655A>T (n.2655A>T)
3	g.15644794T>A	CA351607530	BTD	c.878T>A (p.Ile293Lys) c.399+2737T>A (n.399+2737T>A) c.165+2737T>A (n.165+2737T>A) c.938T>A (p.Ile313Lys) c.944T>A (p.Ile315Lys) c.656T>A (p.Ile219Lys) c.2656T>A (n.2656T>A)
3	g.15644794T>C	CA351607531	BTD	c.878T>C (p.Ile293Thr) c.399+2737T>C (n.399+2737T>C) c.165+2737T>C (n.165+2737T>C) c.938T>C (p.Ile313Thr) c.944T>C (p.Ile315Thr) c.656T>C (p.Ile219Thr) c.2656T>C (n.2656T>C)	dbSNP gnomAD v3 gnomAD v4
3	g.15644794T>G	CA351607532	BTD	c.878T>G (p.Ile293Arg) c.399+2737T>G (n.399+2737T>G) c.165+2737T>G (n.165+2737T>G) c.938T>G (p.Ile313Arg) c.944T>G (p.Ile315Arg) c.656T>G (p.Ile219Arg) c.2656T>G (n.2656T>G)
3	g.15644794T=	CA1347664488	BTD	c.878T= (p.Ile293=) c.399+2737T= (n.399+2737T=) c.165+2737T= (n.165+2737T=) c.938T= (p.Ile313=) c.944T= (p.Ile315=) c.656T= (p.Ile219=) c.2656T= (n.2656T=)
3	g.15644794dup	CA2586971765	BTD	c.878dup (p.His294ThrfsTer11) c.399+2737dup (n.399+2737dup) c.165+2737dup (n.165+2737dup) c.938dup (p.His314ThrfsTer11) c.944dup (p.His316ThrfsTer11) c.656dup (p.His220ThrfsTer11) c.2656dup (n.2656dup)
3	g.15644795A>C	CA432819631	BTD	c.879A>C (p.Ile293=) c.399+2738A>C (n.399+2738A>C) c.165+2738A>C (n.165+2738A>C) c.939A>C (p.Ile313=) c.945A>C (p.Ile315=) c.657A>C (p.Ile219=) c.2657A>C (n.2657A>C)
3	g.15644795A>G	CA351607533	BTD	c.879A>G (p.Ile293Met) c.399+2738A>G (n.399+2738A>G) c.165+2738A>G (n.165+2738A>G) c.939A>G (p.Ile313Met) c.945A>G (p.Ile315Met) c.657A>G (p.Ile219Met) c.2657A>G (n.2657A>G)
3	g.15644795A>T	CA432819630	BTD	c.879A>T (p.Ile293=) c.399+2738A>T (n.399+2738A>T) c.165+2738A>T (n.165+2738A>T) c.939A>T (p.Ile313=) c.945A>T (p.Ile315=) c.657A>T (p.Ile219=) c.2657A>T (n.2657A>T)
3	g.15644796C>A	CA351607536	BTD	c.880C>A (p.His294Asn) c.399+2739C>A (n.399+2739C>A) c.165+2739C>A (n.165+2739C>A) c.940C>A (p.His314Asn) c.946C>A (p.His316Asn) c.658C>A (p.His220Asn) c.2658C>A (n.2658C>A)
3	g.15644796C>G	CA351607534	BTD	c.880C>G (p.His294Asp) c.399+2739C>G (n.399+2739C>G) c.165+2739C>G (n.165+2739C>G) c.940C>G (p.His314Asp) c.946C>G (p.His316Asp) c.658C>G (p.His220Asp) c.2658C>G (n.2658C>G)
3	g.15644796C>T	CA351607535	BTD	c.880C>T (p.His294Tyr) c.399+2739C>T (n.399+2739C>T) c.165+2739C>T (n.165+2739C>T) c.940C>T (p.His314Tyr) c.946C>T (p.His316Tyr) c.658C>T (p.His220Tyr) c.2658C>T (n.2658C>T)	gnomAD v4
3	g.15644797A=	CA1347664492	BTD	c.881A= (p.His294=) c.399+2740A= (n.399+2740A=) c.165+2740A= (n.165+2740A=) c.941A= (p.His314=) c.947A= (p.His316=) c.659A= (p.His220=) c.2659A= (n.2659A=)
3	g.15644797A>C	CA351607537	BTD	c.881A>C (p.His294Pro) c.399+2740A>C (n.399+2740A>C) c.165+2740A>C (n.165+2740A>C) c.941A>C (p.His314Pro) c.947A>C (p.His316Pro) c.659A>C (p.His220Pro) c.2659A>C (n.2659A>C)
3	g.15644797A>G	CA351607538	BTD	c.881A>G (p.His294Arg) c.399+2740A>G (n.399+2740A>G) c.165+2740A>G (n.165+2740A>G) c.941A>G (p.His314Arg) c.947A>G (p.His316Arg) c.659A>G (p.His220Arg) c.2659A>G (n.2659A>G)	ClinVar dbSNP
3	g.15644797A>T	CA351607539	BTD	c.881A>T (p.His294Leu) c.399+2740A>T (n.399+2740A>T) c.165+2740A>T (n.165+2740A>T) c.941A>T (p.His314Leu) c.947A>T (p.His316Leu) c.659A>T (p.His220Leu) c.2659A>T (n.2659A>T)	ClinVar
3	g.15644798C>A	CA351607540	BTD	c.882C>A (p.His294Gln) c.399+2741C>A (n.399+2741C>A) c.165+2741C>A (n.165+2741C>A) c.942C>A (p.His314Gln) c.948C>A (p.His316Gln) c.660C>A (p.His220Gln) c.2660C>A (n.2660C>A)
3	g.15644798C=	CA1347664498	BTD	c.882C= (p.His294=) c.399+2741C= (n.399+2741C=) c.165+2741C= (n.165+2741C=) c.942C= (p.His314=) c.948C= (p.His316=) c.660C= (p.His220=) c.2660C= (n.2660C=)
3	g.15644798C>G	CA351607541	BTD	c.882C>G (p.His294Gln) c.399+2741C>G (n.399+2741C>G) c.165+2741C>G (n.165+2741C>G) c.942C>G (p.His314Gln) c.948C>G (p.His316Gln) c.660C>G (p.His220Gln) c.2660C>G (n.2660C>G)	dbSNP
3	g.15644798C>T	CA432819638	BTD	c.882C>T (p.His294=) c.399+2741C>T (n.399+2741C>T) c.165+2741C>T (n.165+2741C>T) c.942C>T (p.His314=) c.948C>T (p.His316=) c.660C>T (p.His220=) c.2660C>T (n.2660C>T)
3	g.15644799A>C	CA351607542	BTD	c.883A>C (p.Thr295Pro) c.399+2742A>C (n.399+2742A>C) c.165+2742A>C (n.165+2742A>C) c.943A>C (p.Thr315Pro) c.949A>C (p.Thr317Pro) c.661A>C (p.Thr221Pro) c.2661A>C (n.2661A>C)
3	g.15644799A>G	CA351607544	BTD	c.883A>G (p.Thr295Ala) c.399+2742A>G (n.399+2742A>G) c.165+2742A>G (n.165+2742A>G) c.943A>G (p.Thr315Ala) c.949A>G (p.Thr317Ala) c.661A>G (p.Thr221Ala) c.2661A>G (n.2661A>G)
3	g.15644799A>T	CA351607543	BTD	c.883A>T (p.Thr295Ser) c.399+2742A>T (n.399+2742A>T) c.165+2742A>T (n.165+2742A>T) c.943A>T (p.Thr315Ser) c.949A>T (p.Thr317Ser) c.661A>T (p.Thr221Ser) c.2661A>T (n.2661A>T)
3	g.15644800C>A	CA351607545	BTD	c.884C>A (p.Thr295Asn) c.399+2743C>A (n.399+2743C>A) c.165+2743C>A (n.165+2743C>A) c.944C>A (p.Thr315Asn) c.950C>A (p.Thr317Asn) c.662C>A (p.Thr221Asn) c.2662C>A (n.2662C>A)
3	g.15644800C>G	CA351607546	BTD	c.884C>G (p.Thr295Ser) c.399+2743C>G (n.399+2743C>G) c.165+2743C>G (n.165+2743C>G) c.944C>G (p.Thr315Ser) c.950C>G (p.Thr317Ser) c.662C>G (p.Thr221Ser) c.2662C>G (n.2662C>G)
3	g.15644800C>T	CA351607547	BTD	c.884C>T (p.Thr295Ile) c.399+2743C>T (n.399+2743C>T) c.165+2743C>T (n.165+2743C>T) c.944C>T (p.Thr315Ile) c.950C>T (p.Thr317Ile) c.662C>T (p.Thr221Ile) c.2662C>T (n.2662C>T)	gnomAD v4
3	g.15644803del	CA2831039758	BTD	c.887del (p.Pro296LeufsTer18) c.399+2746del (n.399+2746del) c.165+2746del (n.165+2746del) c.947del (p.Pro316LeufsTer18) c.953del (p.Pro318LeufsTer18) c.665del (p.Pro222LeufsTer18) c.2665del (n.2665del)
3	g.15644801C>A	CA432819641	BTD	c.885C>A (p.Thr295=) c.399+2744C>A (n.399+2744C>A) c.165+2744C>A (n.165+2744C>A) c.945C>A (p.Thr315=) c.951C>A (p.Thr317=) c.663C>A (p.Thr221=) c.2663C>A (n.2663C>A)
3	g.15644801C>G	CA432819643	BTD	c.885C>G (p.Thr295=) c.399+2744C>G (n.399+2744C>G) c.165+2744C>G (n.165+2744C>G) c.945C>G (p.Thr315=) c.951C>G (p.Thr317=) c.663C>G (p.Thr221=) c.2663C>G (n.2663C>G)
3	g.15644801C>T	CA432819644	BTD	c.885C>T (p.Thr295=) c.399+2744C>T (n.399+2744C>T) c.165+2744C>T (n.165+2744C>T) c.945C>T (p.Thr315=) c.951C>T (p.Thr317=) c.663C>T (p.Thr221=) c.2663C>T (n.2663C>T)
3	g.15644802C>A	CA351607548	BTD	c.886C>A (p.Pro296Thr) c.399+2745C>A (n.399+2745C>A) c.165+2745C>A (n.165+2745C>A) c.946C>A (p.Pro316Thr) c.952C>A (p.Pro318Thr) c.664C>A (p.Pro222Thr) c.2664C>A (n.2664C>A)	ClinVar dbSNP
3	g.15644802C=	CA1347664500	BTD	c.886C= (p.Pro296=) c.399+2745C= (n.399+2745C=) c.165+2745C= (n.165+2745C=) c.946C= (p.Pro316=) c.952C= (p.Pro318=) c.664C= (p.Pro222=) c.2664C= (n.2664C=)
3	g.15644802C>G	CA351607549	BTD	c.886C>G (p.Pro296Ala) c.399+2745C>G (n.399+2745C>G) c.165+2745C>G (n.165+2745C>G) c.946C>G (p.Pro316Ala) c.952C>G (p.Pro318Ala) c.664C>G (p.Pro222Ala) c.2664C>G (n.2664C>G)
3	g.15644802C>T	CA351607550	BTD	c.886C>T (p.Pro296Ser) c.399+2745C>T (n.399+2745C>T) c.165+2745C>T (n.165+2745C>T) c.946C>T (p.Pro316Ser) c.952C>T (p.Pro318Ser) c.664C>T (p.Pro222Ser) c.2664C>T (n.2664C>T)	gnomAD v4
3	g.15644803C>A	CA351607551	BTD	c.887C>A (p.Pro296His) c.399+2746C>A (n.399+2746C>A) c.165+2746C>A (n.165+2746C>A) c.947C>A (p.Pro316His) c.953C>A (p.Pro318His) c.665C>A (p.Pro222His) c.2665C>A (n.2665C>A)	dbSNP gnomAD v2 gnomAD v4
3	g.15644803C=	CA1347664503	BTD	c.887C= (p.Pro296=) c.399+2746C= (n.399+2746C=) c.165+2746C= (n.165+2746C=) c.947C= (p.Pro316=) c.953C= (p.Pro318=) c.665C= (p.Pro222=) c.2665C= (n.2665C=)
3	g.15644803C>G	CA351607552	BTD	c.887C>G (p.Pro296Arg) c.399+2746C>G (n.399+2746C>G) c.165+2746C>G (n.165+2746C>G) c.947C>G (p.Pro316Arg) c.953C>G (p.Pro318Arg) c.665C>G (p.Pro222Arg) c.2665C>G (n.2665C>G)
3	g.15644803C>T	CA351607553	BTD	c.887C>T (p.Pro296Leu) c.399+2746C>T (n.399+2746C>T) c.165+2746C>T (n.165+2746C>T) c.947C>T (p.Pro316Leu) c.953C>T (p.Pro318Leu) c.665C>T (p.Pro222Leu) c.2665C>T (n.2665C>T)	gnomAD v4

Number of alleles fetched