Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1399056_1399073dupCA2582641072GAMTc.460-45_460-28dup (n.460-45_460-28dup)
c.143-45_143-28dup
n.293-45_293-28dup
c.391-45_391-28dup (n.391-45_391-28dup)
c.145-45_145-28dup (n.145-45_145-28dup)
 gnomAD v4
19g.1399070G>TCA2582641085GAMTc.460-44C>A (n.460-44C>A)
c.143-44C>A
n.293-44C>A
c.391-44C>A (n.391-44C>A)
c.145-44C>A (n.145-44C>A)
 gnomAD v4
19g.1399070_1399075dupCA2582641084GAMTc.460-49_460-44dup (n.460-49_460-44dup)
c.143-49_143-44dup
n.293-49_293-44dup
c.391-49_391-44dup (n.391-49_391-44dup)
c.145-49_145-44dup (n.145-49_145-44dup)
 gnomAD v4
19g.1399072G>TCA2813256008GAMTc.460-46C>A (n.460-46C>A)
c.143-46C>A
n.293-46C>A
c.391-46C>A (n.391-46C>A)
c.145-46C>A (n.145-46C>A)
19g.1399074G>ACA631300633GAMTc.460-48C>T (n.460-48C>T)
c.143-48C>T
n.293-48C>T
c.391-48C>T (n.391-48C>T)
c.145-48C>T (n.145-48C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1399074G=CA2317699077GAMTc.460-48C= (n.460-48C=)
c.143-48C=
n.293-48C=
c.391-48C= (n.391-48C=)
c.145-48C= (n.145-48C=)
19g.1399075C=CA2317699078GAMTc.460-49G= (n.460-49G=)
c.143-49G=
n.293-49G=
c.391-49G= (n.391-49G=)
c.145-49G= (n.145-49G=)
19g.1399075C>GCA304066026GAMTc.460-49G>C (n.460-49G>C)
c.143-49G>C
n.293-49G>C
c.391-49G>C (n.391-49G>C)
c.145-49G>C (n.145-49G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1399077G>ACA2582641087GAMTc.460-51C>T (n.460-51C>T)
c.143-51C>T
n.293-51C>T
c.391-51C>T (n.391-51C>T)
c.145-51C>T (n.145-51C>T)
 gnomAD v4
19g.1399077G>CCA2576548653GAMTc.460-51C>G (n.460-51C>G)
c.143-51C>G
n.293-51C>G
c.391-51C>G (n.391-51C>G)
c.145-51C>G (n.145-51C>G)
19g.1399082_1399094delCA2582641086GAMTc.459+39_460-51del (n.459+39_460-51del)
c.142+39_143-51del
n.292+39_293-51del
c.390+39_391-51del (n.390+39_391-51del)
c.144+39_145-51del (n.144+39_145-51del)
 gnomAD v4
19g.1399079G>ACA2582641088GAMTc.459+49C>T (n.459+49C>T)
c.142+49C>T
n.292+49C>T
c.390+49C>T (n.390+49C>T)
c.144+49C>T (n.144+49C>T)
 gnomAD v4
19g.1399080G>ACA2582641089GAMTc.459+48C>T (n.459+48C>T)
c.142+48C>T
n.292+48C>T
c.390+48C>T (n.390+48C>T)
c.144+48C>T (n.144+48C>T)
 gnomAD v4
19g.1399081G>ACA631300634GAMTc.459+47C>T (n.459+47C>T)
c.142+47C>T
n.292+47C>T
c.390+47C>T (n.390+47C>T)
c.144+47C>T (n.144+47C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.1399081G>CCA2576548654GAMTc.459+47C>G (n.459+47C>G)
c.142+47C>G
n.292+47C>G
c.390+47C>G (n.390+47C>G)
c.144+47C>G (n.144+47C>G)
 gnomAD v4
19g.1399081G=CA2317699079GAMTc.459+47C= (n.459+47C=)
c.142+47C=
n.292+47C=
c.390+47C= (n.390+47C=)
c.144+47C= (n.144+47C=)
19g.1399081_1399086delCA2813256009GAMTc.459+42_459+47del (n.459+42_459+47del)
c.142+42_142+47del
n.292+42_292+47del
c.390+42_390+47del (n.390+42_390+47del)
c.144+42_144+47del (n.144+42_144+47del)
19g.1399082G=CA2317699080GAMTc.459+46C= (n.459+46C=)
c.142+46C=
n.292+46C=
c.390+46C= (n.390+46C=)
c.144+46C= (n.144+46C=)
19g.1399082G>TCA2317699081GAMTc.459+46C>A (n.459+46C>A)
c.142+46C>A
n.292+46C>A
c.390+46C>A (n.390+46C>A)
c.144+46C>A (n.144+46C>A)
 dbSNP gnomAD v4
19g.1399083C=CA2317699083GAMTc.459+45G= (n.459+45G=)
c.142+45G=
n.292+45G=
c.390+45G= (n.390+45G=)
c.144+45G= (n.144+45G=)
19g.1399083C>TCA2317699082GAMTc.459+45G>A (n.459+45G>A)
c.142+45G>A
n.292+45G>A
c.390+45G>A (n.390+45G>A)
c.144+45G>A (n.144+45G>A)
 dbSNP
19g.1399084T>CCA2582641090GAMTc.459+44A>G (n.459+44A>G)
c.142+44A>G
n.292+44A>G
c.390+44A>G (n.390+44A>G)
c.144+44A>G (n.144+44A>G)
 gnomAD v4
19g.1399084T>GCA2582641091GAMTc.459+44A>C (n.459+44A>C)
c.142+44A>C
n.292+44A>C
c.390+44A>C (n.390+44A>C)
c.144+44A>C (n.144+44A>C)
 gnomAD v4
19g.1399086C=CA2317699084GAMTc.459+42G= (n.459+42G=)
c.142+42G=
n.292+42G=
c.390+42G= (n.390+42G=)
c.144+42G= (n.144+42G=)
19g.1399086C>TCA783446112GAMTc.459+42G>A (n.459+42G>A)
c.142+42G>A
n.292+42G>A
c.390+42G>A (n.390+42G>A)
c.144+42G>A (n.144+42G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.1399089C>ACA9043648GAMTc.459+39G>T (n.459+39G>T)
c.142+39G>T
n.292+39G>T
c.390+39G>T (n.390+39G>T)
c.144+39G>T (n.144+39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399089C=CA2317699085GAMTc.459+39G= (n.459+39G=)
c.142+39G=
n.292+39G=
c.390+39G= (n.390+39G=)
c.144+39G= (n.144+39G=)
19g.1399089C>GCA9043649GAMTc.459+39G>C (n.459+39G>C)
c.142+39G>C
n.292+39G>C
c.390+39G>C (n.390+39G>C)
c.144+39G>C (n.144+39G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1399089C>TCA9043647GAMTc.459+39G>A (n.459+39G>A)
c.142+39G>A
n.292+39G>A
c.390+39G>A (n.390+39G>A)
c.144+39G>A (n.144+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399090G>ACA9043650GAMTc.459+38C>T (n.459+38C>T)
c.142+38C>T
n.292+38C>T
c.390+38C>T (n.390+38C>T)
c.144+38C>T (n.144+38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399090G>CCA9043651GAMTc.459+38C>G (n.459+38C>G)
c.142+38C>G
n.292+38C>G
c.390+38C>G (n.390+38C>G)
c.144+38C>G (n.144+38C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399090G=CA2317699086GAMTc.459+38C= (n.459+38C=)
c.142+38C=
n.292+38C=
c.390+38C= (n.390+38C=)
c.144+38C= (n.144+38C=)
19g.1399090G>TCA2813256011GAMTc.459+38C>A (n.459+38C>A)
c.142+38C>A
n.292+38C>A
c.390+38C>A (n.390+38C>A)
c.144+38C>A (n.144+38C>A)
19g.1399091A>CCA2813256012GAMTc.459+37T>G (n.459+37T>G)
c.142+37T>G
n.292+37T>G
c.390+37T>G (n.390+37T>G)
c.144+37T>G (n.144+37T>G)
19g.1399092G>ACA2582641092GAMTc.459+36C>T (n.459+36C>T)
c.142+36C>T
n.292+36C>T
c.390+36C>T (n.390+36C>T)
c.144+36C>T (n.144+36C>T)
 gnomAD v4
19g.1399092G>CCA992513672GAMTc.459+36C>G (n.459+36C>G)
c.142+36C>G
n.292+36C>G
c.390+36C>G (n.390+36C>G)
c.144+36C>G (n.144+36C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.1399092G=CA2317699087GAMTc.459+36C= (n.459+36C=)
c.142+36C=
n.292+36C=
c.390+36C= (n.390+36C=)
c.144+36C= (n.144+36C=)
19g.1399094G>ACA304066032GAMTc.459+34C>T (n.459+34C>T)
c.142+34C>T
n.292+34C>T
c.390+34C>T (n.390+34C>T)
c.144+34C>T (n.144+34C>T)
 dbSNP gnomAD v4
19g.1399094G=CA2317699088GAMTc.459+34C= (n.459+34C=)
c.142+34C=
n.292+34C=
c.390+34C= (n.390+34C=)
c.144+34C= (n.144+34C=)
19g.1399094G>TCA992513673GAMTc.459+34C>A (n.459+34C>A)
c.142+34C>A
n.292+34C>A
c.390+34C>A (n.390+34C>A)
c.144+34C>A (n.144+34C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.1399095C=CA2317699089GAMTc.459+33G= (n.459+33G=)
c.142+33G=
n.292+33G=
c.390+33G= (n.390+33G=)
c.144+33G= (n.144+33G=)
19g.1399095C>TCA9043652GAMTc.459+33G>A (n.459+33G>A)
c.142+33G>A
n.292+33G>A
c.390+33G>A (n.390+33G>A)
c.144+33G>A (n.144+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399096C=CA2317699090GAMTc.459+32G= (n.459+32G=)
c.142+32G=
n.292+32G=
c.390+32G= (n.390+32G=)
c.144+32G= (n.144+32G=)
19g.1399096C>GCA631044728GAMTc.459+32G>C (n.459+32G>C)
c.142+32G>C
n.292+32G>C
c.390+32G>C (n.390+32G>C)
c.144+32G>C (n.144+32G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.1399098C=CA2317699091GAMTc.459+30G= (n.459+30G=)
c.142+30G=
n.292+30G=
c.390+30G= (n.390+30G=)
c.144+30G= (n.144+30G=)
19g.1399098C>GCA2576548655GAMTc.459+30G>C (n.459+30G>C)
c.142+30G>C
n.292+30G>C
c.390+30G>C (n.390+30G>C)
c.144+30G>C (n.144+30G>C)
 gnomAD v4
19g.1399098C>TCA2317699092GAMTc.459+30G>A (n.459+30G>A)
c.142+30G>A
n.292+30G>A
c.390+30G>A (n.390+30G>A)
c.144+30G>A (n.144+30G>A)
 dbSNP
19g.1399099C>ACA2576548656GAMTc.459+29G>T (n.459+29G>T)
c.142+29G>T
n.292+29G>T
c.390+29G>T (n.390+29G>T)
c.144+29G>T (n.144+29G>T)
 gnomAD v4
19g.1399100C=CA2317699093GAMTc.459+28G= (n.459+28G=)
c.142+28G=
n.292+28G=
c.390+28G= (n.390+28G=)
c.144+28G= (n.144+28G=)
19g.1399100C>GCA631044729GAMTc.459+28G>C (n.459+28G>C)
c.142+28G>C
n.292+28G>C
c.390+28G>C (n.390+28G>C)
c.144+28G>C (n.144+28G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.1399100C>TCA9043653GAMTc.459+28G>A (n.459+28G>A)
c.142+28G>A
n.292+28G>A
c.390+28G>A (n.390+28G>A)
c.144+28G>A (n.144+28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399101G>ACA2317699095GAMTc.459+27C>T (n.459+27C>T)
c.142+27C>T
n.292+27C>T
c.390+27C>T (n.390+27C>T)
c.144+27C>T (n.144+27C>T)
 dbSNP gnomAD v4
19g.1399101G>CCA631044730GAMTc.459+27C>G (n.459+27C>G)
c.142+27C>G
n.292+27C>G
c.390+27C>G (n.390+27C>G)
c.144+27C>G (n.144+27C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.1399101G=CA2317699096GAMTc.459+27C= (n.459+27C=)
c.142+27C=
n.292+27C=
c.390+27C= (n.390+27C=)
c.144+27C= (n.144+27C=)
19g.1399101G>TCA9043654GAMTc.459+27C>A (n.459+27C>A)
c.142+27C>A
n.292+27C>A
c.390+27C>A (n.390+27C>A)
c.144+27C>A (n.144+27C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399101_1399102delinsGCCA2317699094GAMTc.459+26_459+27delinsGC (n.459+26_459+27delinsGC)
c.142+26_142+27delinsGC
n.292+26_292+27delinsGC
c.390+26_390+27delinsGC (n.390+26_390+27delinsGC)
c.144+26_144+27delinsGC (n.144+26_144+27delinsGC)
19g.1399102delCA631044731GAMTc.459+26del (n.459+26del)
c.142+26del
n.292+26del
c.390+26del (n.390+26del)
c.144+26del (n.144+26del)
 dbSNP gnomAD v2 gnomAD v4
19g.1399102C>ACA304066054GAMTc.459+26G>T (n.459+26G>T)
c.142+26G>T
n.292+26G>T
c.390+26G>T (n.390+26G>T)
c.144+26G>T (n.144+26G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.1399102C=CA2317699097GAMTc.459+26G= (n.459+26G=)
c.142+26G=
n.292+26G=
c.390+26G= (n.390+26G=)
c.144+26G= (n.144+26G=)
19g.1399103dupCA2582641093GAMTc.459+25dup (n.459+25dup)
c.142+25dup
n.292+25dup
c.390+25dup (n.390+25dup)
c.144+25dup (n.144+25dup)
 gnomAD v4
19g.1399107C=CA2317699098GAMTc.459+21G= (n.459+21G=)
c.142+21G=
n.292+21G=
c.390+21G= (n.390+21G=)
c.144+21G= (n.144+21G=)
19g.1399107C>TCA9043655GAMTc.459+21G>A (n.459+21G>A)
c.142+21G>A
n.292+21G>A
c.390+21G>A (n.390+21G>A)
c.144+21G>A (n.144+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399109G>ACA992513677GAMTc.459+19C>T (n.459+19C>T)
c.142+19C>T
n.292+19C>T
c.390+19C>T (n.390+19C>T)
c.144+19C>T (n.144+19C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1399109G=CA2317699099GAMTc.459+19C= (n.459+19C=)
c.142+19C=
n.292+19C=
c.390+19C= (n.390+19C=)
c.144+19C= (n.144+19C=)
19g.1399109G>TCA2582641094GAMTc.459+19C>A (n.459+19C>A)
c.142+19C>A
n.292+19C>A
c.390+19C>A (n.390+19C>A)
c.144+19C>A (n.144+19C>A)
 gnomAD v4
19g.1399110C>TCA2582641095GAMTc.459+18G>A (n.459+18G>A)
c.142+18G>A
n.292+18G>A
c.390+18G>A (n.390+18G>A)
c.144+18G>A (n.144+18G>A)
 gnomAD v4
19g.1399111A=CA2317699100GAMTc.459+17T= (n.459+17T=)
c.142+17T=
n.292+17T=
c.390+17T= (n.390+17T=)
c.144+17T= (n.144+17T=)
19g.1399111A>GCA16608094GAMTc.459+17T>C (n.459+17T>C)
c.142+17T>C
n.292+17T>C
c.390+17T>C (n.390+17T>C)
c.144+17T>C (n.144+17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1399113G>ACA9043656GAMTc.459+15C>T (n.459+15C>T)
c.142+15C>T
n.292+15C>T
c.390+15C>T (n.390+15C>T)
c.144+15C>T (n.144+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1399113G=CA2317699101GAMTc.459+15C= (n.459+15C=)
c.142+15C=
n.292+15C=
c.390+15C= (n.390+15C=)
c.144+15C= (n.144+15C=)
19g.1399115C>ACA2582641096GAMTc.459+13G>T (n.459+13G>T)
c.142+13G>T
n.292+13G>T
c.390+13G>T (n.390+13G>T)
c.144+13G>T (n.144+13G>T)
 gnomAD v4
19g.1399115C=CA2317699103GAMTc.459+13G= (n.459+13G=)
c.142+13G=
n.292+13G=
c.390+13G= (n.390+13G=)
c.144+13G= (n.144+13G=)
19g.1399115_1399119delinsCAGAGCA2317699102GAMTc.459+9_459+13delinsCTCTG (n.459+9_459+13delinsCTCTG)
c.142+9_142+13delinsCTCTG
n.292+9_292+13delinsCTCTG
c.390+9_390+13delinsCTCTG (n.390+9_390+13delinsCTCTG)
c.144+9_144+13delinsCTCTG (n.144+9_144+13delinsCTCTG)
19g.1399116A>GCA2582641097GAMTc.459+12T>C (n.459+12T>C)
c.142+12T>C
n.292+12T>C
c.390+12T>C (n.390+12T>C)
c.144+12T>C (n.144+12T>C)
 gnomAD v4
19g.1399116dupCA631044732GAMTc.459+12dup (n.459+12dup)
c.142+12dup
n.292+12dup
c.390+12dup (n.390+12dup)
c.144+12dup (n.144+12dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1399119_1399122delCA9043657GAMTc.459+9_459+12del (n.459+9_459+12del)
c.142+9_142+12del
n.292+9_292+12del
c.390+9_390+12del (n.390+9_390+12del)
c.144+9_144+12del (n.144+9_144+12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399117G>ACA2739276351GAMTc.459+11C>T (n.459+11C>T)
c.142+11C>T
n.292+11C>T
c.390+11C>T (n.390+11C>T)
c.144+11C>T (n.144+11C>T)
 ClinVar
19g.1399120A>GCA2573155790GAMTc.459+8T>C (n.459+8T>C)
c.142+8T>C
n.292+8T>C
c.390+8T>C (n.390+8T>C)
c.144+8T>C (n.144+8T>C)
 ClinVar dbSNP
19g.1399121G>ACA2582641098GAMTc.459+7C>T (n.459+7C>T)
c.142+7C>T
n.292+7C>T
c.390+7C>T (n.390+7C>T)
c.144+7C>T (n.144+7C>T)
 gnomAD v4
19g.1399123A>GCA2576548657GAMTc.459+5T>C (n.459+5T>C)
c.142+5T>C
n.292+5T>C
c.390+5T>C (n.390+5T>C)
c.144+5T>C (n.144+5T>C)
19g.1399125C>ACA2573155791GAMTc.459+3G>T (n.459+3G>T)
c.142+3G>T
n.292+3G>T
c.390+3G>T (n.390+3G>T)
c.144+3G>T (n.144+3G>T)
 ClinVar dbSNP gnomAD v4
19g.1399125C=CA2317699104GAMTc.459+3G= (n.459+3G=)
c.142+3G=
n.292+3G=
c.390+3G= (n.390+3G=)
c.144+3G= (n.144+3G=)
19g.1399125C>TCA9043658GAMTc.459+3G>A (n.459+3G>A)
c.142+3G>A
n.292+3G>A
c.390+3G>A (n.390+3G>A)
c.144+3G>A (n.144+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1399126A>CCA402994869GAMTc.459+2T>G (n.459+2T>G)
c.142+2T>G
n.292+2T>G
c.390+2T>G (n.390+2T>G)
c.144+2T>G (n.144+2T>G)
19g.1399126A>GCA402994872GAMTc.459+2T>C (n.459+2T>C)
c.142+2T>C
n.292+2T>C
c.390+2T>C (n.390+2T>C)
c.144+2T>C (n.144+2T>C)
19g.1399126A>TCA402994877GAMTc.459+2T>A (n.459+2T>A)
c.142+2T>A
n.292+2T>A
c.390+2T>A (n.390+2T>A)
c.144+2T>A (n.144+2T>A)
19g.1399127C>ACA402994880GAMTc.459+1G>T (n.459+1G>T)
c.142+1G>T
n.292+1G>T
c.390+1G>T (n.390+1G>T)
c.144+1G>T (n.144+1G>T)
19g.1399127C=CA2317699105GAMTc.459+1G= (n.459+1G=)
c.142+1G=
n.292+1G=
c.390+1G= (n.390+1G=)
c.144+1G= (n.144+1G=)
19g.1399127C>GCA304066069GAMTc.459+1G>C (n.459+1G>C)
c.142+1G>C
n.292+1G>C
c.390+1G>C (n.390+1G>C)
c.144+1G>C (n.144+1G>C)
 dbSNP
19g.1399127C>TCA304066072GAMTc.459+1G>A (n.459+1G>A)
c.142+1G>A
n.292+1G>A
c.390+1G>A (n.390+1G>A)
c.144+1G>A (n.144+1G>A)
 ClinVar dbSNP
19g.1399128C>ACA402994893GAMTc.459G>T (p.Lys153Asn)
c.142G>T
n.292G>T
c.390G>T (p.Lys130Asn)
c.144G>T (p.Lys48Asn)
19g.1399128C>GCA402994896GAMTc.459G>C (p.Lys153Asn)
c.142G>C
n.292G>C
c.390G>C (p.Lys130Asn)
c.144G>C (p.Lys48Asn)
19g.1399128C>TCA504730057GAMTc.459G>A (p.Lys153=)
c.142G>A
n.292G>A
c.390G>A (p.Lys130=)
c.144G>A (p.Lys48=)
19g.1399129T>ACA402994900GAMTc.458A>T (p.Lys153Met)
c.141A>T
n.291A>T
c.389A>T (p.Lys130Met)
c.143A>T (p.Lys48Met)
19g.1399129T>CCA402994903GAMTc.458A>G (p.Lys153Arg)
c.141A>G
n.291A>G
c.389A>G (p.Lys130Arg)
c.143A>G (p.Lys48Arg)
 gnomAD v4
19g.1399129T>GCA402994907GAMTc.458A>C (p.Lys153Thr)
c.141A>C
n.291A>C
c.389A>C (p.Lys130Thr)
c.143A>C (p.Lys48Thr)
19g.1399130T>ACA402994914GAMTc.457A>T (p.Lys153Ter)
c.140A>T
n.290A>T
c.388A>T (p.Lys130Ter)
c.142A>T (p.Lys48Ter)
 gnomAD v4
19g.1399130T>CCA402994925GAMTc.457A>G (p.Lys153Glu)
c.140A>G
n.290A>G
c.388A>G (p.Lys130Glu)
c.142A>G (p.Lys48Glu)
 gnomAD v4 COSMIC COSMIC
19g.1399130T>GCA402994912GAMTc.457A>C (p.Lys153Gln)
c.140A>C
n.290A>C
c.388A>C (p.Lys130Gln)
c.142A>C (p.Lys48Gln)
 dbSNP
19g.1399130T=CA2317699106GAMTc.457A= (p.Lys153=)
c.140A=
n.290A=
c.388A= (p.Lys130=)
c.142A= (p.Lys48=)
19g.1399131G>ACA504730060GAMTc.456C>T (p.Ile152=)
c.139C>T
n.289C>T
c.387C>T (p.Ile129=)
c.141C>T (p.Ile47=)
19g.1399131G>CCA402994927GAMTc.456C>G (p.Ile152Met)
c.139C>G
n.289C>G
c.387C>G (p.Ile129Met)
c.141C>G (p.Ile47Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1399131G=CA2317699107GAMTc.456C= (p.Ile152=)
c.139C=
n.289C=
c.387C= (p.Ile129=)
c.141C= (p.Ile47=)
19g.1399131G>TCA504730061GAMTc.456C>A (p.Ile152=)
c.139C>A
n.289C>A
c.387C>A (p.Ile129=)
c.141C>A (p.Ile47=)
 ClinVar dbSNP
19g.1399132A=CA2317699108GAMTc.455T= (p.Ile152=)
c.138T=
n.288T=
c.386T= (p.Ile129=)
c.140T= (p.Ile47=)
19g.1399132A>CCA402994936GAMTc.455T>G (p.Ile152Ser)
c.138T>G
n.288T>G
c.386T>G (p.Ile129Ser)
c.140T>G (p.Ile47Ser)
19g.1399132A>GCA402994930GAMTc.455T>C (p.Ile152Thr)
c.138T>C
n.288T>C
c.386T>C (p.Ile129Thr)
c.140T>C (p.Ile47Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.1399132A>TCA402994934GAMTc.455T>A (p.Ile152Asn)
c.138T>A
n.288T>A
c.386T>A (p.Ile129Asn)
c.140T>A (p.Ile47Asn)
19g.1399133T>ACA402994939GAMTc.454A>T (p.Ile152Phe)
c.137A>T
n.287A>T
c.385A>T (p.Ile129Phe)
c.139A>T (p.Ile47Phe)
19g.1399133T>CCA402994942GAMTc.454A>G (p.Ile152Val)
c.137A>G
n.287A>G
c.385A>G (p.Ile129Val)
c.139A>G (p.Ile47Val)
19g.1399133T>GCA402994944GAMTc.454A>C (p.Ile152Leu)
c.137A>C
n.287A>C
c.385A>C (p.Ile129Leu)
c.139A>C (p.Ile47Leu)
19g.1399134G>ACA504730064GAMTc.453C>T (p.Phe151=)
c.136C>T
n.286C>T
c.384C>T (p.Phe128=)
c.138C>T (p.Phe46=)
19g.1399134G>CCA402994948GAMTc.453C>G (p.Phe151Leu)
c.136C>G
n.286C>G
c.384C>G (p.Phe128Leu)
c.138C>G (p.Phe46Leu)
19g.1399134G>TCA402994951GAMTc.453C>A (p.Phe151Leu)
c.136C>A
n.286C>A
c.384C>A (p.Phe128Leu)
c.138C>A (p.Phe46Leu)
19g.1399134_1399135delinsGACA2317699109GAMTc.452_453delinsTC (p.Phe151=)
c.135_136delinsTC
n.285_286delinsTC
c.383_384delinsTC (p.Phe128=)
c.137_138delinsTC (p.Phe46=)
19g.1399135A>CCA402994961GAMTc.452T>G (p.Phe151Cys)
c.135T>G
n.285T>G
c.383T>G (p.Phe128Cys)
c.137T>G (p.Phe46Cys)
19g.1399135A>GCA402994954GAMTc.452T>C (p.Phe151Ser)
c.135T>C
n.285T>C
c.383T>C (p.Phe128Ser)
c.137T>C (p.Phe46Ser)
19g.1399135A>TCA402994957GAMTc.452T>A (p.Phe151Tyr)
c.135T>A
n.285T>A
c.383T>A (p.Phe128Tyr)
c.137T>A (p.Phe46Tyr)
19g.1399136delCA631044733GAMTc.452del (p.Phe151SerfsTer10)
c.135del
n.285del
c.383del (p.Phe128SerfsTer10)
c.137del (p.Phe46SerfsTer10)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1399136A>CCA402994963GAMTc.451T>G (p.Phe151Val)
c.134T>G
n.284T>G
c.382T>G (p.Phe128Val)
c.136T>G (p.Phe46Val)
 gnomAD v4
19g.1399136A>GCA402994969GAMTc.451T>C (p.Phe151Leu)
c.134T>C
n.284T>C
c.382T>C (p.Phe128Leu)
c.136T>C (p.Phe46Leu)
19g.1399136A>TCA402994970GAMTc.451T>A (p.Phe151Ile)
c.134T>A
n.284T>A
c.382T>A (p.Phe128Ile)
c.136T>A (p.Phe46Ile)
19g.1399137G>ACA504730067GAMTc.450C>T (p.Asn150=)
c.133C>T
n.283C>T
c.381C>T (p.Asn127=)
c.135C>T (p.Asn45=)
19g.1399137G>CCA402994972GAMTc.450C>G (p.Asn150Lys)
c.133C>G
n.283C>G
c.381C>G (p.Asn127Lys)
c.135C>G (p.Asn45Lys)
19g.1399137G>TCA402994974GAMTc.450C>A (p.Asn150Lys)
c.133C>A
n.283C>A
c.381C>A (p.Asn127Lys)
c.135C>A (p.Asn45Lys)
19g.1399138T>ACA402994981GAMTc.449A>T (p.Asn150Ile)
c.132A>T
n.282A>T
c.380A>T (p.Asn127Ile)
c.134A>T (p.Asn45Ile)
19g.1399138T>CCA9043659GAMTc.449A>G (p.Asn150Ser)
c.132A>G
n.282A>G
c.380A>G (p.Asn127Ser)
c.134A>G (p.Asn45Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399138T>GCA402994988GAMTc.449A>C (p.Asn150Thr)
c.132A>C
n.282A>C
c.380A>C (p.Asn127Thr)
c.134A>C (p.Asn45Thr)
19g.1399138T=CA2317699110GAMTc.449A= (p.Asn150=)
c.132A=
n.282A=
c.380A= (p.Asn127=)
c.134A= (p.Asn45=)
19g.1399139T>ACA402994989GAMTc.448A>T (p.Asn150Tyr)
c.131A>T
n.281A>T
c.379A>T (p.Asn127Tyr)
c.133A>T (p.Asn45Tyr)
19g.1399139T>CCA402994990GAMTc.448A>G (p.Asn150Asp)
c.131A>G
n.281A>G
c.379A>G (p.Asn127Asp)
c.133A>G (p.Asn45Asp)
19g.1399139T>GCA402994994GAMTc.448A>C (p.Asn150His)
c.131A>C
n.281A>C
c.379A>C (p.Asn127His)
c.133A>C (p.Asn45His)
19g.1399141_1399145delCA2739276352GAMTc.444_448del (p.Phe149LeufsTer?)
c.127_131del
n.277_281del
c.375_379del (p.Phe126LeufsTer?)
c.129_133del (p.Phe44LeufsTer?)
 ClinVar
19g.1399140G>ACA504730072GAMTc.447C>T (p.Phe149=)
c.130C>T
n.280C>T
c.378C>T (p.Phe126=)
c.132C>T (p.Phe44=)
 dbSNP
19g.1399140G>CCA402995006GAMTc.447C>G (p.Phe149Leu)
c.130C>G
n.280C>G
c.378C>G (p.Phe126Leu)
c.132C>G (p.Phe44Leu)
19g.1399140G=CA2317699111GAMTc.447C= (p.Phe149=)
c.130C=
n.280C=
c.378C= (p.Phe126=)
c.132C= (p.Phe44=)
19g.1399140G>TCA402995011GAMTc.447C>A (p.Phe149Leu)
c.130C>A
n.280C>A
c.378C>A (p.Phe126Leu)
c.132C>A (p.Phe44Leu)
19g.1399141A>CCA402995024GAMTc.446T>G (p.Phe149Cys)
c.129T>G
n.279T>G
c.377T>G (p.Phe126Cys)
c.131T>G (p.Phe44Cys)
19g.1399141A>GCA402995026GAMTc.446T>C (p.Phe149Ser)
c.129T>C
n.279T>C
c.377T>C (p.Phe126Ser)
c.131T>C (p.Phe44Ser)
19g.1399141A>TCA402995030GAMTc.446T>A (p.Phe149Tyr)
c.129T>A
n.279T>A
c.377T>A (p.Phe126Tyr)
c.131T>A (p.Phe44Tyr)
19g.1399142A>CCA402995033GAMTc.445T>G (p.Phe149Val)
c.128T>G
n.278T>G
c.376T>G (p.Phe126Val)
c.130T>G (p.Phe44Val)
19g.1399142A>GCA402995034GAMTc.445T>C (p.Phe149Leu)
c.128T>C
n.278T>C
c.376T>C (p.Phe126Leu)
c.130T>C (p.Phe44Leu)
19g.1399142A>TCA402995035GAMTc.445T>A (p.Phe149Ile)
c.128T>A
n.278T>A
c.376T>A (p.Phe126Ile)
c.130T>A (p.Phe44Ile)
19g.1399142_1399145delinsACTGCA2317699112GAMTc.442_445delinsCAGT (p.Gln148=)
c.125_128delinsCAGT
n.275_278delinsCAGT
c.373_376delinsCAGT (p.Gln125=)
c.127_130delinsCAGT (p.Gln43=)
19g.1399143C>ACA402995036GAMTc.444G>T (p.Gln148His)
c.127G>T
n.277G>T
c.375G>T (p.Gln125His)
c.129G>T (p.Gln43His)
19g.1399143C>GCA402995037GAMTc.444G>C (p.Gln148His)
c.127G>C
n.277G>C
c.375G>C (p.Gln125His)
c.129G>C (p.Gln43His)
19g.1399143C>TCA504730077GAMTc.444G>A (p.Gln148=)
c.127G>A
n.277G>A
c.375G>A (p.Gln125=)
c.129G>A (p.Gln43=)
19g.1399143_1399145delCA9043660GAMTc.442_444del (p.Gln148del)
c.125_127del
n.275_277del
c.373_375del (p.Gln125del)
c.127_129del (p.Gln43del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399144T>ACA402995038GAMTc.443A>T (p.Gln148Leu)
c.126A>T
n.276A>T
c.374A>T (p.Gln125Leu)
c.128A>T (p.Gln43Leu)
19g.1399144T>CCA402995039GAMTc.443A>G (p.Gln148Arg)
c.126A>G
n.276A>G
c.374A>G (p.Gln125Arg)
c.128A>G (p.Gln43Arg)
19g.1399144T>GCA402995042GAMTc.443A>C (p.Gln148Pro)
c.126A>C
n.276A>C
c.374A>C (p.Gln125Pro)
c.128A>C (p.Gln43Pro)
 gnomAD v4
19g.1399144T=CA2317699113GAMTc.443A= (p.Gln148=)
c.126A=
n.276A=
c.374A= (p.Gln125=)
c.128A= (p.Gln43=)
19g.1399145G>ACA402995050GAMTc.442C>T (p.Gln148Ter)
c.125C>T
n.275C>T
c.373C>T (p.Gln125Ter)
c.127C>T (p.Gln43Ter)
 ClinVar
19g.1399145G>CCA402995059GAMTc.442C>G (p.Gln148Glu)
c.125C>G
n.275C>G
c.373C>G (p.Gln125Glu)
c.127C>G (p.Gln43Glu)
19g.1399145G>TCA402995062GAMTc.442C>A (p.Gln148Lys)
c.125C>A
n.275C>A
c.373C>A (p.Gln125Lys)
c.127C>A (p.Gln43Lys)
19g.1399146dupCA1139666168GAMTc.442dup (p.Gln148ProfsTer?)
c.125dup
n.275dup
c.373dup (p.Gln125ProfsTer?)
c.127dup (p.Gln43ProfsTer?)
 ClinVar dbSNP gnomAD v4
19g.1399145_1399147delinsGGTCA2317699114GAMTc.440_442delinsACC (p.His147=)
c.123_125delinsACC
n.273_275delinsACC
c.371_373delinsACC (p.His124=)
c.125_127delinsACC (p.His42=)
19g.1399146G>ACA504730082GAMTc.441C>T (p.His147=)
c.124C>T
n.274C>T
c.372C>T (p.His124=)
c.126C>T (p.His42=)
19g.1399146G>CCA402995066GAMTc.441C>G (p.His147Gln)
c.124C>G
n.274C>G
c.372C>G (p.His124Gln)
c.126C>G (p.His42Gln)
 dbSNP
19g.1399146G=CA2317699115GAMTc.441C= (p.His147=)
c.124C=
n.274C=
c.372C= (p.His124=)
c.126C= (p.His42=)
19g.1399146G>TCA402995067GAMTc.441C>A (p.His147Gln)
c.124C>A
n.274C>A
c.372C>A (p.His124Gln)
c.126C>A (p.His42Gln)
 ClinVar dbSNP gnomAD v4
19g.1399153_1399154dupCA2580612585GAMTc.440_441dup (p.Gln148ThrfsTer14)
c.123_124dup
n.273_274dup
c.371_372dup (p.Gln125ThrfsTer14)
c.125_126dup (p.Gln43ThrfsTer14)
 ClinVar dbSNP
19g.1399153_1399154delCA631044734GAMTc.440_441del (p.His147ProfsTer?)
c.123_124del
n.273_274del
c.371_372del (p.His124ProfsTer?)
c.125_126del (p.His42ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.1399147T>ACA402995068GAMTc.440A>T (p.His147Leu)
c.123A>T
n.273A>T
c.371A>T (p.His124Leu)
c.125A>T (p.His42Leu)
19g.1399147T>CCA402995069GAMTc.440A>G (p.His147Arg)
c.123A>G
n.273A>G
c.371A>G (p.His124Arg)
c.125A>G (p.His42Arg)
 gnomAD v4
19g.1399147T>GCA402995070GAMTc.440A>C (p.His147Pro)
c.123A>C
n.273A>C
c.371A>C (p.His124Pro)
c.125A>C (p.His42Pro)
19g.1399148G>ACA402995088GAMTc.439C>T (p.His147Tyr)
c.122C>T
n.272C>T
c.370C>T (p.His124Tyr)
c.124C>T (p.His42Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1399148G>CCA402995087GAMTc.439C>G (p.His147Asp)
c.122C>G
n.272C>G
c.370C>G (p.His124Asp)
c.124C>G (p.His42Asp)
19g.1399148G=CA2317699116GAMTc.439C= (p.His147=)
c.122C=
n.272C=
c.370C= (p.His124=)
c.124C= (p.His42=)
19g.1399148G>TCA402995075GAMTc.439C>A (p.His147Asn)
c.122C>A
n.272C>A
c.370C>A (p.His124Asn)
c.124C>A (p.His42Asn)
19g.1399148_1399149delinsGTCA2317699117GAMTc.438_439delinsAC (p.Thr146=)
c.121_122delinsAC
n.271_272delinsAC
c.369_370delinsAC (p.Thr123=)
c.123_124delinsAC (p.Thr41=)
19g.1399149delCA2317699118GAMTc.438del (p.His147ThrfsTer14)
c.121del
n.271del
c.369del (p.His124ThrfsTer14)
c.123del (p.His42ThrfsTer14)
 dbSNP
19g.1399149T>ACA504730083GAMTc.438A>T (p.Thr146=)
c.121A>T
n.271A>T
c.369A>T (p.Thr123=)
c.123A>T (p.Thr41=)
 dbSNP gnomAD v2 gnomAD v4
19g.1399149T>CCA341572GAMTc.438A>G (p.Thr146=)
c.121A>G
n.271A>G
c.369A>G (p.Thr123=)
c.123A>G (p.Thr41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399149T>GCA504730084GAMTc.438A>C (p.Thr146=)
c.121A>C
n.271A>C
c.369A>C (p.Thr123=)
c.123A>C (p.Thr41=)
19g.1399149T=CA2317699119GAMTc.438A= (p.Thr146=)
c.121A=
n.271A=
c.369A= (p.Thr123=)
c.123A= (p.Thr41=)
19g.1399150G>ACA402995100GAMTc.437C>T (p.Thr146Ile)
c.120C>T
n.270C>T
c.368C>T (p.Thr123Ile)
c.122C>T (p.Thr41Ile)
19g.1399150G>CCA9043661GAMTc.437C>G (p.Thr146Arg)
c.120C>G
n.270C>G
c.368C>G (p.Thr123Arg)
c.122C>G (p.Thr41Arg)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.1399150G=CA2317699120GAMTc.437C= (p.Thr146=)
c.120C=
n.270C=
c.368C= (p.Thr123=)
c.122C= (p.Thr41=)
19g.1399150G>TCA402995104GAMTc.437C>A (p.Thr146Lys)
c.120C>A
n.270C>A
c.368C>A (p.Thr123Lys)
c.122C>A (p.Thr41Lys)
19g.1399151T>ACA402995105GAMTc.436A>T (p.Thr146Ser)
c.119A>T
n.269A>T
c.367A>T (p.Thr123Ser)
c.121A>T (p.Thr41Ser)
19g.1399151T>CCA402995108GAMTc.436A>G (p.Thr146Ala)
c.119A>G
n.269A>G
c.367A>G (p.Thr123Ala)
c.121A>G (p.Thr41Ala)
19g.1399151T>GCA402995114GAMTc.436A>C (p.Thr146Pro)
c.119A>C
n.269A>C
c.367A>C (p.Thr123Pro)
c.121A>C (p.Thr41Pro)
19g.1399152G>ACA504730088GAMTc.435C>T (p.His145=)
c.118C>T
n.268C>T
c.366C>T (p.His122=)
c.120C>T (p.His40=)
 gnomAD v4
19g.1399152G>CCA402995115GAMTc.435C>G (p.His145Gln)
c.118C>G
n.268C>G
c.366C>G (p.His122Gln)
c.120C>G (p.His40Gln)
 ClinVar dbSNP
19g.1399152G>TCA402995116GAMTc.435C>A (p.His145Gln)
c.118C>A
n.268C>A
c.366C>A (p.His122Gln)
c.120C>A (p.His40Gln)
19g.1399153T>ACA402995119GAMTc.434A>T (p.His145Leu)
c.117A>T
n.267A>T
c.365A>T (p.His122Leu)
c.119A>T (p.His40Leu)
19g.1399153T>CCA402995123GAMTc.434A>G (p.His145Arg)
c.117A>G
n.267A>G
c.365A>G (p.His122Arg)
c.119A>G (p.His40Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.1399153T>GCA402995127GAMTc.434A>C (p.His145Pro)
c.117A>C
n.267A>C
c.365A>C (p.His122Pro)
c.119A>C (p.His40Pro)
19g.1399153T=CA2317699121GAMTc.434A= (p.His145=)
c.117A=
n.267A=
c.365A= (p.His122=)
c.119A= (p.His40=)
19g.1399154G>ACA402995134GAMTc.433C>T (p.His145Tyr)
c.116C>T
n.266C>T
c.364C>T (p.His122Tyr)
c.118C>T (p.His40Tyr)
 gnomAD v4
19g.1399154G>CCA402995140GAMTc.433C>G (p.His145Asp)
c.116C>G
n.266C>G
c.364C>G (p.His122Asp)
c.118C>G (p.His40Asp)
19g.1399154G>TCA402995129GAMTc.433C>A (p.His145Asn)
c.116C>A
n.266C>A
c.364C>A (p.His122Asn)
c.118C>A (p.His40Asn)
19g.1399154_1399155dupCA2573155792GAMTc.432_433dup (p.His145ArgfsTer17)
c.115_116dup
n.265_266dup
c.363_364dup (p.His122ArgfsTer17)
c.117_118dup (p.His40ArgfsTer17)
 ClinVar dbSNP
19g.1399155C>ACA402995143GAMTc.432G>T (p.Trp144Cys)
c.115G>T
n.265G>T
c.363G>T (p.Trp121Cys)
c.117G>T (p.Trp39Cys)
19g.1399155C=CA2317699122GAMTc.432G= (p.Trp144=)
c.115G=
n.265G=
c.363G= (p.Trp121=)
c.117G= (p.Trp39=)
19g.1399155C>GCA402995148GAMTc.432G>C (p.Trp144Cys)
c.115G>C
n.265G>C
c.363G>C (p.Trp121Cys)
c.117G>C (p.Trp39Cys)
19g.1399155C>TCA402995151GAMTc.432G>A (p.Trp144Ter)
c.115G>A
n.265G>A
c.363G>A (p.Trp121Ter)
c.117G>A (p.Trp39Ter)
 ClinVar dbSNP
19g.1399156C>ACA402995155GAMTc.431G>T (p.Trp144Leu)
c.114G>T
n.264G>T
c.362G>T (p.Trp121Leu)
c.116G>T (p.Trp39Leu)
19g.1399156C>GCA402995157GAMTc.431G>C (p.Trp144Ser)
c.114G>C
n.264G>C
c.362G>C (p.Trp121Ser)
c.116G>C (p.Trp39Ser)
19g.1399156C>TCA402995158GAMTc.431G>A (p.Trp144Ter)
c.114G>A
n.264G>A
c.362G>A (p.Trp121Ter)
c.116G>A (p.Trp39Ter)
 gnomAD v4
19g.1399156_1399159delinsCAGGCA2317699123GAMTc.428_431delinsCCTG (p.Thr143=)
c.111_114delinsCCTG
n.261_264delinsCCTG
c.359_362delinsCCTG (p.Thr120=)
c.113_116delinsCCTG (p.Thr38=)
19g.1399157A>CCA402995159GAMTc.430T>G (p.Trp144Gly)
c.113T>G
n.263T>G
c.361T>G (p.Trp121Gly)
c.115T>G (p.Trp39Gly)
19g.1399157A>GCA402995161GAMTc.430T>C (p.Trp144Arg)
c.113T>C
n.263T>C
c.361T>C (p.Trp121Arg)
c.115T>C (p.Trp39Arg)
19g.1399157A>TCA402995169GAMTc.430T>A (p.Trp144Arg)
c.113T>A
n.263T>A
c.361T>A (p.Trp121Arg)
c.115T>A (p.Trp39Arg)
19g.1399157_1399159delCA783446235GAMTc.428_430del (p.Thr143_Trp144delinsArg)
c.111_113del
n.261_263del
c.359_361del (p.Thr120_Trp121delinsArg)
c.113_115del (p.Thr38_Trp39delinsArg)
 dbSNP
19g.1399158G>ACA504730092GAMTc.429C>T (p.Thr143=)
c.112C>T
n.262C>T
c.360C>T (p.Thr120=)
c.114C>T (p.Thr38=)
 ClinVar dbSNP
19g.1399158G>CCA9043662GAMTc.429C>G (p.Thr143=)
c.112C>G
n.262C>G
c.360C>G (p.Thr120=)
c.114C>G (p.Thr38=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399158G=CA2317699124GAMTc.429C= (p.Thr143=)
c.112C=
n.262C=
c.360C= (p.Thr120=)
c.114C= (p.Thr38=)
19g.1399158G>TCA504730093GAMTc.429C>A (p.Thr143=)
c.112C>A
n.262C>A
c.360C>A (p.Thr120=)
c.114C>A (p.Thr38=)
19g.1399159G>ACA9043663GAMTc.428C>T (p.Thr143Ile)
c.111C>T
n.261C>T
c.359C>T (p.Thr120Ile)
c.113C>T (p.Thr38Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399159G>CCA402995182GAMTc.428C>G (p.Thr143Ser)
c.111C>G
n.261C>G
c.359C>G (p.Thr120Ser)
c.113C>G (p.Thr38Ser)
 gnomAD v4
19g.1399159G=CA2317699125GAMTc.428C= (p.Thr143=)
c.111C=
n.261C=
c.359C= (p.Thr120=)
c.113C= (p.Thr38=)
19g.1399159G>TCA402995185GAMTc.428C>A (p.Thr143Asn)
c.111C>A
n.261C>A
c.359C>A (p.Thr120Asn)
c.113C>A (p.Thr38Asn)
19g.1399160T>ACA402995197GAMTc.427A>T (p.Thr143Ser)
c.110A>T
n.260A>T
c.358A>T (p.Thr120Ser)
c.112A>T (p.Thr38Ser)
 ClinVar gnomAD v4
19g.1399160T>CCA402995194GAMTc.427A>G (p.Thr143Ala)
c.110A>G
n.260A>G
c.358A>G (p.Thr120Ala)
c.112A>G (p.Thr38Ala)
19g.1399160T>GCA402995190GAMTc.427A>C (p.Thr143Pro)
c.110A>C
n.260A>C
c.358A>C (p.Thr120Pro)
c.112A>C (p.Thr38Pro)
19g.1399160T=CA2317699126GAMTc.427A= (p.Thr143=)
c.110A=
n.260A=
c.358A= (p.Thr120=)
c.112A= (p.Thr38=)
19g.1399160_1399163delinsTCTCCA2317699127GAMTc.424_427delinsGAGA (p.Glu142=)
c.107_110delinsGAGA
n.257_260delinsGAGA
c.355_358delinsGAGA (p.Glu119=)
c.109_112delinsGAGA (p.Glu37=)
19g.1399161C>ACA402995202GAMTc.426G>T (p.Glu142Asp)
c.109G>T
n.259G>T
c.357G>T (p.Glu119Asp)
c.111G>T (p.Glu37Asp)
19g.1399161C=CA2317699128GAMTc.426G= (p.Glu142=)
c.109G=
n.259G=
c.357G= (p.Glu119=)
c.111G= (p.Glu37=)
19g.1399161C>GCA402995207GAMTc.426G>C (p.Glu142Asp)
c.109G>C
n.259G>C
c.357G>C (p.Glu119Asp)
c.111G>C (p.Glu37Asp)
19g.1399161C>TCA9043664GAMTc.426G>A (p.Glu142=)
c.109G>A
n.259G>A
c.357G>A (p.Glu119=)
c.111G>A (p.Glu37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399161_1399162insCACACACCA783446248GAMTc.426_427insTGTGTGG (p.Thr143CysfsTer?)
c.109_110insTGTGTGG
n.259_260insTGTGTGG
c.357_358insTGTGTGG (p.Thr120CysfsTer?)
c.111_112insTGTGTGG (p.Thr38CysfsTer?)
 dbSNP
19g.1399165_1399167delCA992513703GAMTc.424_426del (p.Glu142del)
c.107_109del
n.257_259del
c.355_357del (p.Glu119del)
c.109_111del (p.Glu37del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.1399162T>ACA402995214GAMTc.425A>T (p.Glu142Val)
c.108A>T
n.258A>T
c.356A>T (p.Glu119Val)
c.110A>T (p.Glu37Val)
19g.1399162T>CCA402995218GAMTc.425A>G (p.Glu142Gly)
c.108A>G
n.258A>G
c.356A>G (p.Glu119Gly)
c.110A>G (p.Glu37Gly)
19g.1399162T>GCA402995221GAMTc.425A>C (p.Glu142Ala)
c.108A>C
n.258A>C
c.356A>C (p.Glu119Ala)
c.110A>C (p.Glu37Ala)
19g.1399163C>ACA402995225GAMTc.424G>T (p.Glu142Ter)
c.107G>T
n.257G>T
c.355G>T (p.Glu119Ter)
c.109G>T (p.Glu37Ter)
19g.1399163C>GCA402995226GAMTc.424G>C (p.Glu142Gln)
c.107G>C
n.257G>C
c.355G>C (p.Glu119Gln)
c.109G>C (p.Glu37Gln)
19g.1399163C>TCA402995227GAMTc.424G>A (p.Glu142Lys)
c.107G>A
n.257G>A
c.355G>A (p.Glu119Lys)
c.109G>A (p.Glu37Lys)
19g.1399164C>ACA402995228GAMTc.423G>T (p.Glu141Asp)
c.106G>T
n.256G>T
c.354G>T (p.Glu118Asp)
c.108G>T (p.Glu36Asp)
19g.1399164C>GCA402995230GAMTc.423G>C (p.Glu141Asp)
c.106G>C
n.256G>C
c.354G>C (p.Glu118Asp)
c.108G>C (p.Glu36Asp)
 gnomAD v4
19g.1399164C>TCA504730099GAMTc.423G>A (p.Glu141=)
c.106G>A
n.256G>A
c.354G>A (p.Glu118=)
c.108G>A (p.Glu36=)
19g.1399165T>ACA402995238GAMTc.422A>T (p.Glu141Val)
c.105A>T
n.255A>T
c.353A>T (p.Glu118Val)
c.107A>T (p.Glu36Val)
19g.1399165T>CCA402995240GAMTc.422A>G (p.Glu141Gly)
c.105A>G
n.255A>G
c.353A>G (p.Glu118Gly)
c.107A>G (p.Glu36Gly)
19g.1399165T>GCA402995241GAMTc.422A>C (p.Glu141Ala)
c.105A>C
n.255A>C
c.353A>C (p.Glu118Ala)
c.107A>C (p.Glu36Ala)
19g.1399166C>ACA402995249GAMTc.421G>T (p.Glu141Ter)
c.104G>T
n.254G>T
c.352G>T (p.Glu118Ter)
c.106G>T (p.Glu36Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.1399166C=CA2317699129GAMTc.421G= (p.Glu141=)
c.104G=
n.254G=
c.352G= (p.Glu118=)
c.106G= (p.Glu36=)
19g.1399166C>GCA402995260GAMTc.421G>C (p.Glu141Gln)
c.104G>C
n.254G>C
c.352G>C (p.Glu118Gln)
c.106G>C (p.Glu36Gln)
19g.1399166C>TCA402995245GAMTc.421G>A (p.Glu141Lys)
c.104G>A
n.254G>A
c.352G>A (p.Glu118Lys)
c.106G>A (p.Glu36Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1399167C>ACA504730101GAMTc.420G>T (p.Ser140=)
c.103G>T
n.253G>T
c.351G>T (p.Ser117=)
c.105G>T (p.Ser35=)
19g.1399167C=CA2317699130GAMTc.420G= (p.Ser140=)
c.103G=
n.253G=
c.351G= (p.Ser117=)
c.105G= (p.Ser35=)
19g.1399167C>GCA504730102GAMTc.420G>C (p.Ser140=)
c.103G>C
n.253G>C
c.351G>C (p.Ser117=)
c.105G>C (p.Ser35=)
 dbSNP gnomAD v3 gnomAD v4
19g.1399167C>TCA9043665GAMTc.420G>A (p.Ser140=)
c.103G>A
n.253G>A
c.351G>A (p.Ser117=)
c.105G>A (p.Ser35=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399168G>ACA9043666GAMTc.419C>T (p.Ser140Leu)
c.102C>T
n.252C>T
c.350C>T (p.Ser117Leu)
c.104C>T (p.Ser35Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1399168G>CCA402995271GAMTc.419C>G (p.Ser140Trp)
c.102C>G
n.252C>G
c.350C>G (p.Ser117Trp)
c.104C>G (p.Ser35Trp)
19g.1399168G=CA2317699131GAMTc.419C= (p.Ser140=)
c.102C=
n.252C=
c.350C= (p.Ser117=)
c.104C= (p.Ser35=)
19g.1399168G>TCA402995274GAMTc.419C>A (p.Ser140Ter)
c.102C>A
n.252C>A
c.350C>A (p.Ser117Ter)
c.104C>A (p.Ser35Ter)
 ClinVar dbSNP
19g.1399171_1399172delCA2695223152GAMTc.418_419del (p.Ser140GlyfsTer?)
c.101_102del
n.251_252del
c.349_350del (p.Ser117GlyfsTer?)
c.103_104del (p.Ser35GlyfsTer?)
19g.1399169A=CA2317699132GAMTc.418T= (p.Ser140=)
c.101T=
n.251T=
c.349T= (p.Ser117=)
c.103T= (p.Ser35=)
19g.1399169A>CCA402995278GAMTc.418T>G (p.Ser140Ala)
c.101T>G
n.251T>G
c.349T>G (p.Ser117Ala)
c.103T>G (p.Ser35Ala)
19g.1399169A>GCA402995280GAMTc.418T>C (p.Ser140Pro)
c.101T>C
n.251T>C
c.349T>C (p.Ser117Pro)
c.103T>C (p.Ser35Pro)
19g.1399169A>TCA402995281GAMTc.418T>A (p.Ser140Thr)
c.101T>A
n.251T>A
c.349T>A (p.Ser117Thr)
c.103T>A (p.Ser35Thr)
 ClinVar dbSNP gnomAD v4
19g.1399170G>ACA504730104GAMTc.417C>T (p.Leu139=)
c.100C>T
n.250C>T
c.348C>T (p.Leu116=)
c.102C>T (p.Leu34=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1399170G>CCA504730106GAMTc.417C>G (p.Leu139=)
c.100C>G
n.250C>G
c.348C>G (p.Leu116=)
c.102C>G (p.Leu34=)
19g.1399170G=CA2317699133GAMTc.417C= (p.Leu139=)
c.100C=
n.250C=
c.348C= (p.Leu116=)
c.102C= (p.Leu34=)
19g.1399170G>TCA504730108GAMTc.417C>A (p.Leu139=)
c.100C>A
n.250C>A
c.348C>A (p.Leu116=)
c.102C>A (p.Leu34=)

Number of alleles fetched