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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101757466_101757673dup | CA16609425 | GNPTAB | c.3250-10_3335+112dup n.116-10_201+112dup c.62-10_147+112dup c.3169-10_3254+112dup c.3034-10_3119+112dup c.2023-10_2108+112dup | ClinVar dbSNP |
| 12 | g.101757468_101757673dup | CA1139662822 | GNPTAB | c.3250-16_3335+104dup n.116-16_201+104dup c.62-16_147+104dup c.3169-16_3254+104dup c.3034-16_3119+104dup c.2023-16_2108+104dup | ClinVar dbSNP |
| 12 | g.101757570A>C | CA386293427 | GNPTAB | c.3335+2T>G (n.3335+2T>G) n.201+2T>G c.86+2T>G (n.86+2T>G) c.147+2T>G c.3254+2T>G (n.3254+2T>G) c.3119+2T>G (n.3119+2T>G) c.2108+2T>G (n.2108+2T>G) | |
| 12 | g.101757570A>G | CA386293430 | GNPTAB | c.3335+2T>C (n.3335+2T>C) n.201+2T>C c.86+2T>C (n.86+2T>C) c.147+2T>C c.3254+2T>C (n.3254+2T>C) c.3119+2T>C (n.3119+2T>C) c.2108+2T>C (n.2108+2T>C) | gnomAD v4 |
| 12 | g.101757570A>T | CA386293431 | GNPTAB | c.3335+2T>A (n.3335+2T>A) n.201+2T>A c.86+2T>A (n.86+2T>A) c.147+2T>A c.3254+2T>A (n.3254+2T>A) c.3119+2T>A (n.3119+2T>A) c.2108+2T>A (n.2108+2T>A) | gnomAD v4 |
| 12 | g.101757571C>A | CA386293438 | GNPTAB | c.3335+1G>T (n.3335+1G>T) n.201+1G>T c.86+1G>T (n.86+1G>T) c.147+1G>T c.3254+1G>T (n.3254+1G>T) c.3119+1G>T (n.3119+1G>T) c.2108+1G>T (n.2108+1G>T) | dbSNP |
| 12 | g.101757571C= | CA2058952334 | GNPTAB | c.3335+1G= (n.3335+1G=) n.201+1G= c.86+1G= (n.86+1G=) c.147+1G= c.3254+1G= (n.3254+1G=) c.3119+1G= (n.3119+1G=) c.2108+1G= (n.2108+1G=) | |
| 12 | g.101757571C>G | CA386293441 | GNPTAB | c.3335+1G>C (n.3335+1G>C) n.201+1G>C c.86+1G>C (n.86+1G>C) c.147+1G>C c.3254+1G>C (n.3254+1G>C) c.3119+1G>C (n.3119+1G>C) c.2108+1G>C (n.2108+1G>C) | |
| 12 | g.101757571C>T | CA340017 | GNPTAB | c.3335+1G>A (n.3335+1G>A) n.201+1G>A c.86+1G>A (n.86+1G>A) c.147+1G>A c.3254+1G>A (n.3254+1G>A) c.3119+1G>A (n.3119+1G>A) c.2108+1G>A (n.2108+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757572C>A | CA386293444 | GNPTAB | c.3335G>T (p.Arg1112Met) n.201G>T c.86G>T (p.Arg29Met) c.147G>T c.3254G>T (p.Arg1085Met) c.3119G>T (p.Arg1040Met) c.2108G>T (p.Arg703Met) | gnomAD v4 |
| 12 | g.101757572C= | CA2058952335 | GNPTAB | c.3335G= (p.Arg1112=) n.201G= c.86G= (p.Arg29=) c.147G= c.3254G= (p.Arg1085=) c.3119G= (p.Arg1040=) c.2108G= (p.Arg703=) | |
| 12 | g.101757572C>G | CA386293447 | GNPTAB | c.3335G>C (p.Arg1112Thr) n.201G>C c.86G>C (p.Arg29Thr) c.147G>C c.3254G>C (p.Arg1085Thr) c.3119G>C (p.Arg1040Thr) c.2108G>C (p.Arg703Thr) | |
| 12 | g.101757572C>T | CA386293450 | GNPTAB | c.3335G>A (p.Arg1112Lys) n.201G>A c.86G>A (p.Arg29Lys) c.147G>A c.3254G>A (p.Arg1085Lys) c.3119G>A (p.Arg1040Lys) c.2108G>A (p.Arg703Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757573T>A | CA386293453 | GNPTAB | c.3334A>T (p.Arg1112Trp) n.200A>T c.85A>T (p.Arg29Trp) c.146A>T c.3253A>T (p.Arg1085Trp) c.3118A>T (p.Arg1040Trp) c.2107A>T (p.Arg703Trp) | |
| 12 | g.101757573T>C | CA386293455 | GNPTAB | c.3334A>G (p.Arg1112Gly) n.200A>G c.85A>G (p.Arg29Gly) c.146A>G c.3253A>G (p.Arg1085Gly) c.3118A>G (p.Arg1040Gly) c.2107A>G (p.Arg703Gly) | gnomAD v4 |
| 12 | g.101757573T>G | CA481318080 | GNPTAB | c.3334A>C (p.Arg1112=) n.200A>C c.85A>C (p.Arg29=) c.146A>C c.3253A>C (p.Arg1085=) c.3118A>C (p.Arg1040=) c.2107A>C (p.Arg703=) | |
| 12 | g.101757574A= | CA2058952336 | GNPTAB | c.3333T= (p.Tyr1111=) n.199T= c.84T= (p.Tyr28=) c.145T= c.3252T= (p.Tyr1084=) c.3117T= (p.Tyr1039=) c.2106T= (p.Tyr702=) | |
| 12 | g.101757574A>C | CA386293462 | GNPTAB | c.3333T>G (p.Tyr1111Ter) n.199T>G c.84T>G (p.Tyr28Ter) c.145T>G c.3252T>G (p.Tyr1084Ter) c.3117T>G (p.Tyr1039Ter) c.2106T>G (p.Tyr702Ter) | |
| 12 | g.101757574A>G | CA242451118 | GNPTAB | c.3333T>C (p.Tyr1111=) n.199T>C c.84T>C (p.Tyr28=) c.145T>C c.3252T>C (p.Tyr1084=) c.3117T>C (p.Tyr1039=) c.2106T>C (p.Tyr702=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757574A>T | CA386293460 | GNPTAB | c.3333T>A (p.Tyr1111Ter) n.199T>A c.84T>A (p.Tyr28Ter) c.145T>A c.3252T>A (p.Tyr1084Ter) c.3117T>A (p.Tyr1039Ter) c.2106T>A (p.Tyr702Ter) | |
| 12 | g.101757575T>A | CA386293465 | GNPTAB | c.3332A>T (p.Tyr1111Phe) n.198A>T c.83A>T (p.Tyr28Phe) c.144A>T c.3251A>T (p.Tyr1084Phe) c.3116A>T (p.Tyr1039Phe) c.2105A>T (p.Tyr702Phe) | |
| 12 | g.101757575T>C | CA386293469 | GNPTAB | c.3332A>G (p.Tyr1111Cys) n.198A>G c.83A>G (p.Tyr28Cys) c.144A>G c.3251A>G (p.Tyr1084Cys) c.3116A>G (p.Tyr1039Cys) c.2105A>G (p.Tyr702Cys) | gnomAD v4 |
| 12 | g.101757575T>G | CA386293471 | GNPTAB | c.3332A>C (p.Tyr1111Ser) n.198A>C c.83A>C (p.Tyr28Ser) c.144A>C c.3251A>C (p.Tyr1084Ser) c.3116A>C (p.Tyr1039Ser) c.2105A>C (p.Tyr702Ser) | |
| 12 | g.101757576A= | CA2058952337 | GNPTAB | c.3331T= (p.Tyr1111=) n.197T= c.82T= (p.Tyr28=) c.143T= c.3250T= (p.Tyr1084=) c.3115T= (p.Tyr1039=) c.2104T= (p.Tyr702=) | |
| 12 | g.101757576A>C | CA386293474 | GNPTAB | c.3331T>G (p.Tyr1111Asp) n.197T>G c.82T>G (p.Tyr28Asp) c.143T>G c.3250T>G (p.Tyr1084Asp) c.3115T>G (p.Tyr1039Asp) c.2104T>G (p.Tyr702Asp) | |
| 12 | g.101757576A>G | CA386293476 | GNPTAB | c.3331T>C (p.Tyr1111His) n.197T>C c.82T>C (p.Tyr28His) c.143T>C c.3250T>C (p.Tyr1084His) c.3115T>C (p.Tyr1039His) c.2104T>C (p.Tyr702His) | gnomAD v4 |
| 12 | g.101757576A>T | CA386293479 | GNPTAB | c.3331T>A (p.Tyr1111Asn) n.197T>A c.82T>A (p.Tyr28Asn) c.143T>A c.3250T>A (p.Tyr1084Asn) c.3115T>A (p.Tyr1039Asn) c.2104T>A (p.Tyr702Asn) | |
| 12 | g.101757577T>A | CA386293482 | GNPTAB | c.3330A>T (p.Lys1110Asn) n.196A>T c.81A>T (p.Lys27Asn) c.142A>T c.3249A>T (p.Lys1083Asn) c.3114A>T (p.Lys1038Asn) c.2103A>T (p.Lys701Asn) | |
| 12 | g.101757577T>C | CA481318086 | GNPTAB | c.3330A>G (p.Lys1110=) n.196A>G c.81A>G (p.Lys27=) c.142A>G c.3249A>G (p.Lys1083=) c.3114A>G (p.Lys1038=) c.2103A>G (p.Lys701=) | gnomAD v4 |
| 12 | g.101757577T>G | CA386293483 | GNPTAB | c.3330A>C (p.Lys1110Asn) n.196A>C c.81A>C (p.Lys27Asn) c.142A>C c.3249A>C (p.Lys1083Asn) c.3114A>C (p.Lys1038Asn) c.2103A>C (p.Lys701Asn) | |
| 12 | g.101757579dup | CA343396 | GNPTAB | c.3330dup (p.Tyr1111IlefsTer2) n.196dup c.81dup (p.Tyr28IlefsTer2) c.142dup c.3249dup (p.Tyr1084IlefsTer2) c.3114dup (p.Tyr1039IlefsTer2) c.2103dup (p.Tyr702IlefsTer2) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757579del | CA2620427355 | GNPTAB | c.3330del (p.Lys1110AsnfsTer16) n.196del c.81del (p.Lys27AsnfsTer16) c.142del c.3249del (p.Lys1083AsnfsTer16) c.3114del (p.Lys1038AsnfsTer16) c.2103del (p.Lys701AsnfsTer16) | gnomAD v4 |
| 12 | g.101757578T>A | CA386293484 | GNPTAB | c.3329A>T (p.Lys1110Ile) n.195A>T c.80A>T (p.Lys27Ile) c.141A>T c.3248A>T (p.Lys1083Ile) c.3113A>T (p.Lys1038Ile) c.2102A>T (p.Lys701Ile) | |
| 12 | g.101757578T>C | CA386293486 | GNPTAB | c.3329A>G (p.Lys1110Arg) n.195A>G c.80A>G (p.Lys27Arg) c.141A>G c.3248A>G (p.Lys1083Arg) c.3113A>G (p.Lys1038Arg) c.2102A>G (p.Lys701Arg) | gnomAD v4 |
| 12 | g.101757578T>G | CA386293485 | GNPTAB | c.3329A>C (p.Lys1110Thr) n.195A>C c.80A>C (p.Lys27Thr) c.141A>C c.3248A>C (p.Lys1083Thr) c.3113A>C (p.Lys1038Thr) c.2102A>C (p.Lys701Thr) | |
| 12 | g.101757579T>A | CA386293488 | GNPTAB | c.3328A>T (p.Lys1110Ter) n.194A>T c.79A>T (p.Lys27Ter) c.140A>T c.3247A>T (p.Lys1083Ter) c.3112A>T (p.Lys1038Ter) c.2101A>T (p.Lys701Ter) | |
| 12 | g.101757579T>C | CA386293491 | GNPTAB | c.3328A>G (p.Lys1110Glu) n.194A>G c.79A>G (p.Lys27Glu) c.140A>G c.3247A>G (p.Lys1083Glu) c.3112A>G (p.Lys1038Glu) c.2101A>G (p.Lys701Glu) | gnomAD v4 |
| 12 | g.101757579T>G | CA386293489 | GNPTAB | c.3328A>C (p.Lys1110Gln) n.194A>C c.79A>C (p.Lys27Gln) c.140A>C c.3247A>C (p.Lys1083Gln) c.3112A>C (p.Lys1038Gln) c.2101A>C (p.Lys701Gln) | |
| 12 | g.101757580G>A | CA481318088 | GNPTAB | c.3327C>T (p.Asn1109=) n.193C>T c.78C>T (p.Asn26=) c.139C>T c.3246C>T (p.Asn1082=) c.3111C>T (p.Asn1037=) c.2100C>T (p.Asn700=) | dbSNP gnomAD v4 |
| 12 | g.101757580G>C | CA386293495 | GNPTAB | c.3327C>G (p.Asn1109Lys) n.193C>G c.78C>G (p.Asn26Lys) c.139C>G c.3246C>G (p.Asn1082Lys) c.3111C>G (p.Asn1037Lys) c.2100C>G (p.Asn700Lys) | |
| 12 | g.101757580G= | CA2058952338 | GNPTAB | c.3327C= (p.Asn1109=) n.193C= c.78C= (p.Asn26=) c.139C= c.3246C= (p.Asn1082=) c.3111C= (p.Asn1037=) c.2100C= (p.Asn700=) | |
| 12 | g.101757580G>T | CA386293498 | GNPTAB | c.3327C>A (p.Asn1109Lys) n.193C>A c.78C>A (p.Asn26Lys) c.139C>A c.3246C>A (p.Asn1082Lys) c.3111C>A (p.Asn1037Lys) c.2100C>A (p.Asn700Lys) | gnomAD v4 |
| 12 | g.101757581T>A | CA386293505 | GNPTAB | c.3326A>T (p.Asn1109Ile) n.192A>T c.77A>T (p.Asn26Ile) c.138A>T c.3245A>T (p.Asn1082Ile) c.3110A>T (p.Asn1037Ile) c.2099A>T (p.Asn700Ile) | |
| 12 | g.101757581T>C | CA386293508 | GNPTAB | c.3326A>G (p.Asn1109Ser) n.192A>G c.77A>G (p.Asn26Ser) c.138A>G c.3245A>G (p.Asn1082Ser) c.3110A>G (p.Asn1037Ser) c.2099A>G (p.Asn700Ser) | |
| 12 | g.101757581T>G | CA386293513 | GNPTAB | c.3326A>C (p.Asn1109Thr) n.192A>C c.77A>C (p.Asn26Thr) c.138A>C c.3245A>C (p.Asn1082Thr) c.3110A>C (p.Asn1037Thr) c.2099A>C (p.Asn700Thr) | gnomAD v4 |
| 12 | g.101757585dup | CA275048 | GNPTAB | c.3326dup (p.Asn1109LysfsTer4) n.192dup c.77dup (p.Asn26LysfsTer4) c.138dup c.3245dup (p.Asn1082LysfsTer4) c.3110dup (p.Asn1037LysfsTer4) c.2099dup (p.Asn700LysfsTer4) | ClinVar dbSNP |
| 12 | g.101757585del | CA2620427356 | GNPTAB | c.3326del (p.Asn1109ThrfsTer17) n.192del c.77del (p.Asn26ThrfsTer17) c.138del c.3245del (p.Asn1082ThrfsTer17) c.3110del (p.Asn1037ThrfsTer17) c.2099del (p.Asn700ThrfsTer17) | gnomAD v4 |
| 12 | g.101757582T>A | CA386293522 | GNPTAB | c.3325A>T (p.Asn1109Tyr) n.191A>T c.76A>T (p.Asn26Tyr) c.137A>T c.3244A>T (p.Asn1082Tyr) c.3109A>T (p.Asn1037Tyr) c.2098A>T (p.Asn700Tyr) | |
| 12 | g.101757582T>C | CA386293516 | GNPTAB | c.3325A>G (p.Asn1109Asp) n.191A>G c.76A>G (p.Asn26Asp) c.137A>G c.3244A>G (p.Asn1082Asp) c.3109A>G (p.Asn1037Asp) c.2098A>G (p.Asn700Asp) | |
| 12 | g.101757582T>G | CA386293519 | GNPTAB | c.3325A>C (p.Asn1109His) n.191A>C c.76A>C (p.Asn26His) c.137A>C c.3244A>C (p.Asn1082His) c.3109A>C (p.Asn1037His) c.2098A>C (p.Asn700His) | |
| 12 | g.101757583T>A | CA386293525 | GNPTAB | c.3324A>T (p.Lys1108Asn) n.190A>T c.75A>T (p.Lys25Asn) c.136A>T c.3243A>T (p.Lys1081Asn) c.3108A>T (p.Lys1036Asn) c.2097A>T (p.Lys699Asn) | |
| 12 | g.101757583T>C | CA481318093 | GNPTAB | c.3324A>G (p.Lys1108=) n.190A>G c.75A>G (p.Lys25=) c.136A>G c.3243A>G (p.Lys1081=) c.3108A>G (p.Lys1036=) c.2097A>G (p.Lys699=) | gnomAD v4 |
| 12 | g.101757583T>G | CA386293528 | GNPTAB | c.3324A>C (p.Lys1108Asn) n.190A>C c.75A>C (p.Lys25Asn) c.136A>C c.3243A>C (p.Lys1081Asn) c.3108A>C (p.Lys1036Asn) c.2097A>C (p.Lys699Asn) | |
| 12 | g.101757584T>A | CA386293532 | GNPTAB | c.3323A>T (p.Lys1108Ile) n.189A>T c.74A>T (p.Lys25Ile) c.135A>T c.3242A>T (p.Lys1081Ile) c.3107A>T (p.Lys1036Ile) c.2096A>T (p.Lys699Ile) | |
| 12 | g.101757584T>C | CA386293535 | GNPTAB | c.3323A>G (p.Lys1108Arg) n.189A>G c.74A>G (p.Lys25Arg) c.135A>G c.3242A>G (p.Lys1081Arg) c.3107A>G (p.Lys1036Arg) c.2096A>G (p.Lys699Arg) | gnomAD v4 |
| 12 | g.101757584T>G | CA386293537 | GNPTAB | c.3323A>C (p.Lys1108Thr) n.189A>C c.74A>C (p.Lys25Thr) c.135A>C c.3242A>C (p.Lys1081Thr) c.3107A>C (p.Lys1036Thr) c.2096A>C (p.Lys699Thr) | |
| 12 | g.101757585T>A | CA386293546 | GNPTAB | c.3322A>T (p.Lys1108Ter) n.188A>T c.73A>T (p.Lys25Ter) c.134A>T c.3241A>T (p.Lys1081Ter) c.3106A>T (p.Lys1036Ter) c.2095A>T (p.Lys699Ter) | |
| 12 | g.101757585T>C | CA386293540 | GNPTAB | c.3322A>G (p.Lys1108Glu) n.188A>G c.73A>G (p.Lys25Glu) c.134A>G c.3241A>G (p.Lys1081Glu) c.3106A>G (p.Lys1036Glu) c.2095A>G (p.Lys699Glu) | gnomAD v4 |
| 12 | g.101757585T>G | CA386293542 | GNPTAB | c.3322A>C (p.Lys1108Gln) n.188A>C c.73A>C (p.Lys25Gln) c.134A>C c.3241A>C (p.Lys1081Gln) c.3106A>C (p.Lys1036Gln) c.2095A>C (p.Lys699Gln) | |
| 12 | g.101757586del | CA2575264908 | GNPTAB | c.3321del (p.Asp1107GlufsTer19) n.187del c.72del (p.Asp24GlufsTer19) c.133del c.3240del (p.Asp1080GlufsTer19) c.3105del (p.Asp1035GlufsTer19) c.2094del (p.Asp698GlufsTer19) | |
| 12 | g.101757586G>A | CA481318098 | GNPTAB | c.3321C>T (p.Asp1107=) n.187C>T c.72C>T (p.Asp24=) c.133C>T c.3240C>T (p.Asp1080=) c.3105C>T (p.Asp1035=) c.2094C>T (p.Asp698=) | gnomAD v4 |
| 12 | g.101757586G>C | CA386293550 | GNPTAB | c.3321C>G (p.Asp1107Glu) n.187C>G c.72C>G (p.Asp24Glu) c.133C>G c.3240C>G (p.Asp1080Glu) c.3105C>G (p.Asp1035Glu) c.2094C>G (p.Asp698Glu) | |
| 12 | g.101757586G>T | CA386293552 | GNPTAB | c.3321C>A (p.Asp1107Glu) n.187C>A c.72C>A (p.Asp24Glu) c.133C>A c.3240C>A (p.Asp1080Glu) c.3105C>A (p.Asp1035Glu) c.2094C>A (p.Asp698Glu) | gnomAD v4 |
| 12 | g.101757587T>A | CA386293554 | GNPTAB | c.3320A>T (p.Asp1107Val) n.186A>T c.71A>T (p.Asp24Val) c.132A>T c.3239A>T (p.Asp1080Val) c.3104A>T (p.Asp1035Val) c.2093A>T (p.Asp698Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757587T>C | CA386293558 | GNPTAB | c.3320A>G (p.Asp1107Gly) n.186A>G c.71A>G (p.Asp24Gly) c.132A>G c.3239A>G (p.Asp1080Gly) c.3104A>G (p.Asp1035Gly) c.2093A>G (p.Asp698Gly) | gnomAD v4 |
| 12 | g.101757587T>G | CA386293560 | GNPTAB | c.3320A>C (p.Asp1107Ala) n.186A>C c.71A>C (p.Asp24Ala) c.132A>C c.3239A>C (p.Asp1080Ala) c.3104A>C (p.Asp1035Ala) c.2093A>C (p.Asp698Ala) | |
| 12 | g.101757587T= | CA2058952339 | GNPTAB | c.3320A= (p.Asp1107=) n.186A= c.71A= (p.Asp24=) c.132A= c.3239A= (p.Asp1080=) c.3104A= (p.Asp1035=) c.2093A= (p.Asp698=) | |
| 12 | g.101757587dup | CA2843478674 | GNPTAB | c.3320dup (p.Asp1107GlufsTer6) n.186dup c.71dup (p.Asp24GlufsTer6) c.132dup c.3239dup (p.Asp1080GlufsTer6) c.3104dup (p.Asp1035GlufsTer6) c.2093dup (p.Asp698GlufsTer6) | |
| 12 | g.101757588C>A | CA386293563 | GNPTAB | c.3319G>T (p.Asp1107Tyr) n.185G>T c.70G>T (p.Asp24Tyr) c.131G>T c.3238G>T (p.Asp1080Tyr) c.3103G>T (p.Asp1035Tyr) c.2092G>T (p.Asp698Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757588C= | CA2058952340 | GNPTAB | c.3319G= (p.Asp1107=) n.185G= c.70G= (p.Asp24=) c.131G= c.3238G= (p.Asp1080=) c.3103G= (p.Asp1035=) c.2092G= (p.Asp698=) | |
| 12 | g.101757588C>G | CA386293565 | GNPTAB | c.3319G>C (p.Asp1107His) n.185G>C c.70G>C (p.Asp24His) c.131G>C c.3238G>C (p.Asp1080His) c.3103G>C (p.Asp1035His) c.2092G>C (p.Asp698His) | |
| 12 | g.101757588C>T | CA386293568 | GNPTAB | c.3319G>A (p.Asp1107Asn) n.185G>A c.70G>A (p.Asp24Asn) c.131G>A c.3238G>A (p.Asp1080Asn) c.3103G>A (p.Asp1035Asn) c.2092G>A (p.Asp698Asn) | |
| 12 | g.101757588_101757600delinsCCTTATATGCTTT | CA2058952341 | GNPTAB | c.3307_3319delinsAAAGCATATAAGG (p.Lys1103=) n.173_185delinsAAAGCATATAAGG c.58_70delinsAAAGCATATAAGG (p.Lys20=) c.119_131delinsAAAGCATATAAGG c.3226_3238delinsAAAGCATATAAGG (p.Lys1076=) c.3091_3103delinsAAAGCATATAAGG (p.Lys1031=) c.2080_2092delinsAAAGCATATAAGG (p.Lys694=) | |
| 12 | g.101757589C>A | CA386293570 | GNPTAB | c.3318G>T (p.Lys1106Asn) n.184G>T c.69G>T (p.Lys23Asn) c.130G>T c.3237G>T (p.Lys1079Asn) c.3102G>T (p.Lys1034Asn) c.2091G>T (p.Lys697Asn) | |
| 12 | g.101757589C>G | CA386293572 | GNPTAB | c.3318G>C (p.Lys1106Asn) n.184G>C c.69G>C (p.Lys23Asn) c.130G>C c.3237G>C (p.Lys1079Asn) c.3102G>C (p.Lys1034Asn) c.2091G>C (p.Lys697Asn) | |
| 12 | g.101757589C>T | CA481318103 | GNPTAB | c.3318G>A (p.Lys1106=) n.184G>A c.69G>A (p.Lys23=) c.130G>A c.3237G>A (p.Lys1079=) c.3102G>A (p.Lys1034=) c.2091G>A (p.Lys697=) | gnomAD v4 |
| 12 | g.101757589_101757600delinsAGTTACTG | CA1139662823 | GNPTAB | c.3307_3318delinsCAGTAACT (p.Lys1103GlnfsTer2) n.173_184delinsCAGTAACT c.58_69delinsCAGTAACT (p.Lys20GlnfsTer2) c.119_130delinsCAGTAACT c.3226_3237delinsCAGTAACT (p.Lys1076GlnfsTer2) c.3091_3102delinsCAGTAACT (p.Lys1031GlnfsTer2) c.2080_2091delinsCAGTAACT (p.Lys694GlnfsTer2) | ClinVar dbSNP |
| 12 | g.101757590T>A | CA6746197 | GNPTAB | c.3317A>T (p.Lys1106Met) n.183A>T c.68A>T (p.Lys23Met) c.129A>T c.3236A>T (p.Lys1079Met) c.3101A>T (p.Lys1034Met) c.2090A>T (p.Lys697Met) | dbSNP ExAC gnomAD v4 |
| 12 | g.101757590T>C | CA386293576 | GNPTAB | c.3317A>G (p.Lys1106Arg) n.183A>G c.68A>G (p.Lys23Arg) c.129A>G c.3236A>G (p.Lys1079Arg) c.3101A>G (p.Lys1034Arg) c.2090A>G (p.Lys697Arg) | gnomAD v4 |
| 12 | g.101757590T>G | CA386293578 | GNPTAB | c.3317A>C (p.Lys1106Thr) n.183A>C c.68A>C (p.Lys23Thr) c.129A>C c.3236A>C (p.Lys1079Thr) c.3101A>C (p.Lys1034Thr) c.2090A>C (p.Lys697Thr) | |
| 12 | g.101757590T= | CA2058952342 | GNPTAB | c.3317A= (p.Lys1106=) n.183A= c.68A= (p.Lys23=) c.129A= c.3236A= (p.Lys1079=) c.3101A= (p.Lys1034=) c.2090A= (p.Lys697=) | |
| 12 | g.101757591del | CA2575264909 | GNPTAB | c.3317del (p.Lys1106ArgfsTer20) n.183del c.68del (p.Lys23ArgfsTer20) c.129del c.3236del (p.Lys1079ArgfsTer20) c.3101del (p.Lys1034ArgfsTer20) c.2090del (p.Lys697ArgfsTer20) | gnomAD v4 |
| 12 | g.101757591T>A | CA386293588 | GNPTAB | c.3316A>T (p.Lys1106Ter) n.182A>T c.67A>T (p.Lys23Ter) c.128A>T c.3235A>T (p.Lys1079Ter) c.3100A>T (p.Lys1034Ter) c.2089A>T (p.Lys697Ter) | |
| 12 | g.101757591T>C | CA386293581 | GNPTAB | c.3316A>G (p.Lys1106Glu) n.182A>G c.67A>G (p.Lys23Glu) c.128A>G c.3235A>G (p.Lys1079Glu) c.3100A>G (p.Lys1034Glu) c.2089A>G (p.Lys697Glu) | gnomAD v4 |
| 12 | g.101757591T>G | CA386293584 | GNPTAB | c.3316A>C (p.Lys1106Gln) n.182A>C c.67A>C (p.Lys23Gln) c.128A>C c.3235A>C (p.Lys1079Gln) c.3100A>C (p.Lys1034Gln) c.2089A>C (p.Lys697Gln) | |
| 12 | g.101757594_101757595del | CA2797209711 | GNPTAB | c.3315_3316del (p.Tyr1105Ter) n.181_182del c.66_67del (p.Tyr22Ter) c.127_128del c.3234_3235del (p.Tyr1078Ter) c.3099_3100del (p.Tyr1033Ter) c.2088_2089del (p.Tyr696Ter) | |
| 12 | g.101757592A>C | CA386293591 | GNPTAB | c.3315T>G (p.Tyr1105Ter) n.181T>G c.66T>G (p.Tyr22Ter) c.127T>G c.3234T>G (p.Tyr1078Ter) c.3099T>G (p.Tyr1033Ter) c.2088T>G (p.Tyr696Ter) | |
| 12 | g.101757592A>G | CA481318105 | GNPTAB | c.3315T>C (p.Tyr1105=) n.181T>C c.66T>C (p.Tyr22=) c.127T>C c.3234T>C (p.Tyr1078=) c.3099T>C (p.Tyr1033=) c.2088T>C (p.Tyr696=) | gnomAD v4 |
| 12 | g.101757592A>T | CA386293594 | GNPTAB | c.3315T>A (p.Tyr1105Ter) n.181T>A c.66T>A (p.Tyr22Ter) c.127T>A c.3234T>A (p.Tyr1078Ter) c.3099T>A (p.Tyr1033Ter) c.2088T>A (p.Tyr696Ter) | gnomAD v4 |
| 12 | g.101757593T>A | CA386293597 | GNPTAB | c.3314A>T (p.Tyr1105Phe) n.180A>T c.65A>T (p.Tyr22Phe) c.126A>T c.3233A>T (p.Tyr1078Phe) c.3098A>T (p.Tyr1033Phe) c.2087A>T (p.Tyr696Phe) | |
| 12 | g.101757593T>C | CA6746198 | GNPTAB | c.3314A>G (p.Tyr1105Cys) n.180A>G c.65A>G (p.Tyr22Cys) c.126A>G c.3233A>G (p.Tyr1078Cys) c.3098A>G (p.Tyr1033Cys) c.2087A>G (p.Tyr696Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757593T>G | CA386293601 | GNPTAB | c.3314A>C (p.Tyr1105Ser) n.180A>C c.65A>C (p.Tyr22Ser) c.126A>C c.3233A>C (p.Tyr1078Ser) c.3098A>C (p.Tyr1033Ser) c.2087A>C (p.Tyr696Ser) | |
| 12 | g.101757593T= | CA2058952343 | GNPTAB | c.3314A= (p.Tyr1105=) n.180A= c.65A= (p.Tyr22=) c.126A= c.3233A= (p.Tyr1078=) c.3098A= (p.Tyr1033=) c.2087A= (p.Tyr696=) | |
| 12 | g.101757594A= | CA2058952344 | GNPTAB | c.3313T= (p.Tyr1105=) n.179T= c.64T= (p.Tyr22=) c.125T= c.3232T= (p.Tyr1078=) c.3097T= (p.Tyr1033=) c.2086T= (p.Tyr696=) | |
| 12 | g.101757594A>C | CA6746199 | GNPTAB | c.3313T>G (p.Tyr1105Asp) n.179T>G c.64T>G (p.Tyr22Asp) c.125T>G c.3232T>G (p.Tyr1078Asp) c.3097T>G (p.Tyr1033Asp) c.2086T>G (p.Tyr696Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757594A>G | CA386293607 | GNPTAB | c.3313T>C (p.Tyr1105His) n.179T>C c.64T>C (p.Tyr22His) c.125T>C c.3232T>C (p.Tyr1078His) c.3097T>C (p.Tyr1033His) c.2086T>C (p.Tyr696His) | gnomAD v4 |
| 12 | g.101757594A>T | CA386293609 | GNPTAB | c.3313T>A (p.Tyr1105Asn) n.179T>A c.64T>A (p.Tyr22Asn) c.125T>A c.3232T>A (p.Tyr1078Asn) c.3097T>A (p.Tyr1033Asn) c.2086T>A (p.Tyr696Asn) | |
| 12 | g.101757595T>A | CA481318112 | GNPTAB | c.3312A>T (p.Ala1104=) n.178A>T c.63A>T (p.Ala21=) c.124A>T c.3231A>T (p.Ala1077=) c.3096A>T (p.Ala1032=) c.2085A>T (p.Ala695=) | |
| 12 | g.101757595T>C | CA481318113 | GNPTAB | c.3312A>G (p.Ala1104=) n.178A>G c.63A>G (p.Ala21=) c.124A>G c.3231A>G (p.Ala1077=) c.3096A>G (p.Ala1032=) c.2085A>G (p.Ala695=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757595T>G | CA481318111 | GNPTAB | c.3312A>C (p.Ala1104=) n.178A>C c.63A>C (p.Ala21=) c.124A>C c.3231A>C (p.Ala1077=) c.3096A>C (p.Ala1032=) c.2085A>C (p.Ala695=) | |
| 12 | g.101757595T= | CA2058952345 | GNPTAB | c.3312A= (p.Ala1104=) n.178A= c.63A= (p.Ala21=) c.124A= c.3231A= (p.Ala1077=) c.3096A= (p.Ala1032=) c.2085A= (p.Ala695=) | |
| 12 | g.101757596G>A | CA386293614 | GNPTAB | c.3311C>T (p.Ala1104Val) n.177C>T c.62C>T (p.Ala21Val) c.123C>T c.3230C>T (p.Ala1077Val) c.3095C>T (p.Ala1032Val) c.2084C>T (p.Ala695Val) | |
| 12 | g.101757596G>C | CA386293616 | GNPTAB | c.3311C>G (p.Ala1104Gly) n.177C>G c.62C>G (p.Ala21Gly) c.123C>G c.3230C>G (p.Ala1077Gly) c.3095C>G (p.Ala1032Gly) c.2084C>G (p.Ala695Gly) | |
| 12 | g.101757596G>T | CA386293619 | GNPTAB | c.3311C>A (p.Ala1104Glu) n.177C>A c.62C>A (p.Ala21Glu) c.123C>A c.3230C>A (p.Ala1077Glu) c.3095C>A (p.Ala1032Glu) c.2084C>A (p.Ala695Glu) | gnomAD v4 |
| 12 | g.101757596_101757597delinsGC | CA2058952346 | GNPTAB | c.3310_3311delinsGC (p.Ala1104=) n.176_177delinsGC c.61_62delinsGC (p.Ala21=) c.122_123delinsGC c.3229_3230delinsGC (p.Ala1077=) c.3094_3095delinsGC (p.Ala1032=) c.2083_2084delinsGC (p.Ala695=) | |
| 12 | g.101757597del | CA343395 | GNPTAB | c.3310del (p.Ala1104HisfsTer22) n.176del c.61del (p.Ala21HisfsTer22) c.122del c.3229del (p.Ala1077HisfsTer22) c.3094del (p.Ala1032HisfsTer22) c.2083del (p.Ala695HisfsTer22) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757597C>A | CA386293623 | GNPTAB | c.3310G>T (p.Ala1104Ser) n.176G>T c.61G>T (p.Ala21Ser) c.122G>T c.3229G>T (p.Ala1077Ser) c.3094G>T (p.Ala1032Ser) c.2083G>T (p.Ala695Ser) | COSMIC |
| 12 | g.101757597C>G | CA386293621 | GNPTAB | c.3310G>C (p.Ala1104Pro) n.176G>C c.61G>C (p.Ala21Pro) c.122G>C c.3229G>C (p.Ala1077Pro) c.3094G>C (p.Ala1032Pro) c.2083G>C (p.Ala695Pro) | |
| 12 | g.101757597C>T | CA386293620 | GNPTAB | c.3310G>A (p.Ala1104Thr) n.176G>A c.61G>A (p.Ala21Thr) c.122G>A c.3229G>A (p.Ala1077Thr) c.3094G>A (p.Ala1032Thr) c.2083G>A (p.Ala695Thr) | gnomAD v4 |
| 12 | g.101757598T>A | CA386293626 | GNPTAB | c.3309A>T (p.Lys1103Asn) n.175A>T c.60A>T (p.Lys20Asn) c.121A>T c.3228A>T (p.Lys1076Asn) c.3093A>T (p.Lys1031Asn) c.2082A>T (p.Lys694Asn) | |
| 12 | g.101757598T>C | CA481318118 | GNPTAB | c.3309A>G (p.Lys1103=) n.175A>G c.60A>G (p.Lys20=) c.121A>G c.3228A>G (p.Lys1076=) c.3093A>G (p.Lys1031=) c.2082A>G (p.Lys694=) | gnomAD v4 |
| 12 | g.101757598T>G | CA386293629 | GNPTAB | c.3309A>C (p.Lys1103Asn) n.175A>C c.60A>C (p.Lys20Asn) c.121A>C c.3228A>C (p.Lys1076Asn) c.3093A>C (p.Lys1031Asn) c.2082A>C (p.Lys694Asn) | |
| 12 | g.101757599T>A | CA386293639 | GNPTAB | c.3308A>T (p.Lys1103Ile) n.174A>T c.59A>T (p.Lys20Ile) c.120A>T c.3227A>T (p.Lys1076Ile) c.3092A>T (p.Lys1031Ile) c.2081A>T (p.Lys694Ile) | |
| 12 | g.101757599T>C | CA386293643 | GNPTAB | c.3308A>G (p.Lys1103Arg) n.174A>G c.59A>G (p.Lys20Arg) c.120A>G c.3227A>G (p.Lys1076Arg) c.3092A>G (p.Lys1031Arg) c.2081A>G (p.Lys694Arg) | gnomAD v4 |
| 12 | g.101757599T>G | CA386293644 | GNPTAB | c.3308A>C (p.Lys1103Thr) n.174A>C c.59A>C (p.Lys20Thr) c.120A>C c.3227A>C (p.Lys1076Thr) c.3092A>C (p.Lys1031Thr) c.2081A>C (p.Lys694Thr) | |
| 12 | g.101757600T>A | CA386293648 | GNPTAB | c.3307A>T (p.Lys1103Ter) n.173A>T c.58A>T (p.Lys20Ter) c.119A>T c.3226A>T (p.Lys1076Ter) c.3091A>T (p.Lys1031Ter) c.2080A>T (p.Lys694Ter) | |
| 12 | g.101757600T>C | CA386293650 | GNPTAB | c.3307A>G (p.Lys1103Glu) n.173A>G c.58A>G (p.Lys20Glu) c.119A>G c.3226A>G (p.Lys1076Glu) c.3091A>G (p.Lys1031Glu) c.2080A>G (p.Lys694Glu) | dbSNP gnomAD v4 |
| 12 | g.101757600T>G | CA386293653 | GNPTAB | c.3307A>C (p.Lys1103Gln) n.173A>C c.58A>C (p.Lys20Gln) c.119A>C c.3226A>C (p.Lys1076Gln) c.3091A>C (p.Lys1031Gln) c.2080A>C (p.Lys694Gln) | |
| 12 | g.101757600T= | CA2058952347 | GNPTAB | c.3307A= (p.Lys1103=) n.173A= c.58A= (p.Lys20=) c.119A= c.3226A= (p.Lys1076=) c.3091A= (p.Lys1031=) c.2080A= (p.Lys694=) | |
| 12 | g.101757601G>A | CA481318122 | GNPTAB | c.3306C>T (p.His1102=) n.172C>T c.57C>T (p.His19=) c.118C>T c.3225C>T (p.His1075=) c.3090C>T (p.His1030=) c.2079C>T (p.His693=) | gnomAD v4 |
| 12 | g.101757601G>C | CA10636148 | GNPTAB | c.3306C>G (p.His1102Gln) n.172C>G c.57C>G (p.His19Gln) c.118C>G c.3225C>G (p.His1075Gln) c.3090C>G (p.His1030Gln) c.2079C>G (p.His693Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757601G= | CA2058952348 | GNPTAB | c.3306C= (p.His1102=) n.172C= c.57C= (p.His19=) c.118C= c.3225C= (p.His1075=) c.3090C= (p.His1030=) c.2079C= (p.His693=) | |
| 12 | g.101757601G>T | CA386293654 | GNPTAB | c.3306C>A (p.His1102Gln) n.172C>A c.57C>A (p.His19Gln) c.118C>A c.3225C>A (p.His1075Gln) c.3090C>A (p.His1030Gln) c.2079C>A (p.His693Gln) | gnomAD v4 |
| 12 | g.101757602T>A | CA386293655 | GNPTAB | c.3305A>T (p.His1102Leu) n.171A>T c.56A>T (p.His19Leu) c.117A>T c.3224A>T (p.His1075Leu) c.3089A>T (p.His1030Leu) c.2078A>T (p.His693Leu) | |
| 12 | g.101757602T>C | CA386293656 | GNPTAB | c.3305A>G (p.His1102Arg) n.171A>G c.56A>G (p.His19Arg) c.117A>G c.3224A>G (p.His1075Arg) c.3089A>G (p.His1030Arg) c.2078A>G (p.His693Arg) | gnomAD v4 |
| 12 | g.101757602T>G | CA386293658 | GNPTAB | c.3305A>C (p.His1102Pro) n.171A>C c.56A>C (p.His19Pro) c.117A>C c.3224A>C (p.His1075Pro) c.3089A>C (p.His1030Pro) c.2078A>C (p.His693Pro) | gnomAD v4 |
| 12 | g.101757603G>A | CA386293664 | GNPTAB | c.3304C>T (p.His1102Tyr) n.170C>T c.55C>T (p.His19Tyr) c.116C>T c.3223C>T (p.His1075Tyr) c.3088C>T (p.His1030Tyr) c.2077C>T (p.His693Tyr) | gnomAD v4 |
| 12 | g.101757603G>C | CA386293663 | GNPTAB | c.3304C>G (p.His1102Asp) n.170C>G c.55C>G (p.His19Asp) c.116C>G c.3223C>G (p.His1075Asp) c.3088C>G (p.His1030Asp) c.2077C>G (p.His693Asp) | |
| 12 | g.101757603G>T | CA386293660 | GNPTAB | c.3304C>A (p.His1102Asn) n.170C>A c.55C>A (p.His19Asn) c.116C>A c.3223C>A (p.His1075Asn) c.3088C>A (p.His1030Asn) c.2077C>A (p.His693Asn) | gnomAD v4 |
| 12 | g.101757604G>A | CA6746200 | GNPTAB | c.3303C>T (p.Ile1101=) n.169C>T c.54C>T (p.Ile18=) c.115C>T c.3222C>T (p.Ile1074=) c.3087C>T (p.Ile1029=) c.2076C>T (p.Ile692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757604G>C | CA386293669 | GNPTAB | c.3303C>G (p.Ile1101Met) n.169C>G c.54C>G (p.Ile18Met) c.115C>G c.3222C>G (p.Ile1074Met) c.3087C>G (p.Ile1029Met) c.2076C>G (p.Ile692Met) | |
| 12 | g.101757604G= | CA2058952349 | GNPTAB | c.3303C= (p.Ile1101=) n.169C= c.54C= (p.Ile18=) c.115C= c.3222C= (p.Ile1074=) c.3087C= (p.Ile1029=) c.2076C= (p.Ile692=) | |
| 12 | g.101757604G>T | CA481318124 | GNPTAB | c.3303C>A (p.Ile1101=) n.169C>A c.54C>A (p.Ile18=) c.115C>A c.3222C>A (p.Ile1074=) c.3087C>A (p.Ile1029=) c.2076C>A (p.Ile692=) | gnomAD v4 |
| 12 | g.101757605A= | CA2058952350 | GNPTAB | c.3302T= (p.Ile1101=) n.168T= c.53T= (p.Ile18=) c.114T= c.3221T= (p.Ile1074=) c.3086T= (p.Ile1029=) c.2075T= (p.Ile692=) | |
| 12 | g.101757605A>C | CA386293674 | GNPTAB | c.3302T>G (p.Ile1101Ser) n.168T>G c.53T>G (p.Ile18Ser) c.114T>G c.3221T>G (p.Ile1074Ser) c.3086T>G (p.Ile1029Ser) c.2075T>G (p.Ile692Ser) | |
| 12 | g.101757605A>G | CA386293677 | GNPTAB | c.3302T>C (p.Ile1101Thr) n.168T>C c.53T>C (p.Ile18Thr) c.114T>C c.3221T>C (p.Ile1074Thr) c.3086T>C (p.Ile1029Thr) c.2075T>C (p.Ile692Thr) | |
| 12 | g.101757605A>T | CA386293679 | GNPTAB | c.3302T>A (p.Ile1101Asn) n.168T>A c.53T>A (p.Ile18Asn) c.114T>A c.3221T>A (p.Ile1074Asn) c.3086T>A (p.Ile1029Asn) c.2075T>A (p.Ile692Asn) | |
| 12 | g.101757606T>A | CA386293681 | GNPTAB | c.3301A>T (p.Ile1101Phe) n.167A>T c.52A>T (p.Ile18Phe) c.113A>T c.3220A>T (p.Ile1074Phe) c.3085A>T (p.Ile1029Phe) c.2074A>T (p.Ile692Phe) | |
| 12 | g.101757606T>C | CA386293684 | GNPTAB | c.3301A>G (p.Ile1101Val) n.167A>G c.52A>G (p.Ile18Val) c.113A>G c.3220A>G (p.Ile1074Val) c.3085A>G (p.Ile1029Val) c.2074A>G (p.Ile692Val) | |
| 12 | g.101757606T>G | CA242451149 | GNPTAB | c.3301A>C (p.Ile1101Leu) n.167A>C c.52A>C (p.Ile18Leu) c.113A>C c.3220A>C (p.Ile1074Leu) c.3085A>C (p.Ile1029Leu) c.2074A>C (p.Ile692Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757606T= | CA2058952351 | GNPTAB | c.3301A= (p.Ile1101=) n.167A= c.52A= (p.Ile18=) c.113A= c.3220A= (p.Ile1074=) c.3085A= (p.Ile1029=) c.2074A= (p.Ile692=) | |
| 12 | g.101757609dup | CA607597936 | GNPTAB | c.3301dup (p.Ile1101AsnfsTer6) n.167dup c.52dup (p.Ile18AsnfsTer6) c.113dup c.3220dup (p.Ile1074AsnfsTer6) c.3085dup (p.Ile1029AsnfsTer6) c.2074dup (p.Ile692AsnfsTer6) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757609del | CA2575264911 | GNPTAB | c.3301del (p.Ile1101SerfsTer25) n.167del c.52del (p.Ile18SerfsTer25) c.113del c.3220del (p.Ile1074SerfsTer25) c.3085del (p.Ile1029SerfsTer25) c.2074del (p.Ile692SerfsTer25) | |
| 12 | g.101757608_101757609del | CA2499221381 | GNPTAB | c.3300_3301del (p.Lys1100AsnfsTer6) n.166_167del c.51_52del (p.Lys17AsnfsTer6) c.112_113del c.3219_3220del (p.Lys1073AsnfsTer6) c.3084_3085del (p.Lys1028AsnfsTer6) c.2073_2074del (p.Lys691AsnfsTer6) | ClinVar dbSNP |
| 12 | g.101757607T>A | CA386293692 | GNPTAB | c.3300A>T (p.Lys1100Asn) n.166A>T c.51A>T (p.Lys17Asn) c.112A>T c.3219A>T (p.Lys1073Asn) c.3084A>T (p.Lys1028Asn) c.2073A>T (p.Lys691Asn) | |
| 12 | g.101757607T>C | CA481318130 | GNPTAB | c.3300A>G (p.Lys1100=) n.166A>G c.51A>G (p.Lys17=) c.112A>G c.3219A>G (p.Lys1073=) c.3084A>G (p.Lys1028=) c.2073A>G (p.Lys691=) | |
| 12 | g.101757607T>G | CA386293695 | GNPTAB | c.3300A>C (p.Lys1100Asn) n.166A>C c.51A>C (p.Lys17Asn) c.112A>C c.3219A>C (p.Lys1073Asn) c.3084A>C (p.Lys1028Asn) c.2073A>C (p.Lys691Asn) | |
| 12 | g.101757608T>A | CA386293697 | GNPTAB | c.3299A>T (p.Lys1100Ile) n.165A>T c.50A>T (p.Lys17Ile) c.111A>T c.3218A>T (p.Lys1073Ile) c.3083A>T (p.Lys1028Ile) c.2072A>T (p.Lys691Ile) | |
| 12 | g.101757608T>C | CA386293699 | GNPTAB | c.3299A>G (p.Lys1100Arg) n.165A>G c.50A>G (p.Lys17Arg) c.111A>G c.3218A>G (p.Lys1073Arg) c.3083A>G (p.Lys1028Arg) c.2072A>G (p.Lys691Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757608T>G | CA386293703 | GNPTAB | c.3299A>C (p.Lys1100Thr) n.165A>C c.50A>C (p.Lys17Thr) c.111A>C c.3218A>C (p.Lys1073Thr) c.3083A>C (p.Lys1028Thr) c.2072A>C (p.Lys691Thr) | |
| 12 | g.101757608T= | CA2058952352 | GNPTAB | c.3299A= (p.Lys1100=) n.165A= c.50A= (p.Lys17=) c.111A= c.3218A= (p.Lys1073=) c.3083A= (p.Lys1028=) c.2072A= (p.Lys691=) | |
| 12 | g.101757609T>A | CA386293715 | GNPTAB | c.3298A>T (p.Lys1100Ter) n.164A>T c.49A>T (p.Lys17Ter) c.110A>T c.3217A>T (p.Lys1073Ter) c.3082A>T (p.Lys1028Ter) c.2071A>T (p.Lys691Ter) | |
| 12 | g.101757609T>C | CA386293711 | GNPTAB | c.3298A>G (p.Lys1100Glu) n.164A>G c.49A>G (p.Lys17Glu) c.110A>G c.3217A>G (p.Lys1073Glu) c.3082A>G (p.Lys1028Glu) c.2071A>G (p.Lys691Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757609T>G | CA386293707 | GNPTAB | c.3298A>C (p.Lys1100Gln) n.164A>C c.49A>C (p.Lys17Gln) c.110A>C c.3217A>C (p.Lys1073Gln) c.3082A>C (p.Lys1028Gln) c.2071A>C (p.Lys691Gln) | |
| 12 | g.101757609T= | CA2058952353 | GNPTAB | c.3298A= (p.Lys1100=) n.164A= c.49A= (p.Lys17=) c.110A= c.3217A= (p.Lys1073=) c.3082A= (p.Lys1028=) c.2071A= (p.Lys691=) | |
| 12 | g.101757610G>A | CA481318131 | GNPTAB | c.3297C>T (p.Asp1099=) n.163C>T c.48C>T (p.Asp16=) c.109C>T c.3216C>T (p.Asp1072=) c.3081C>T (p.Asp1027=) c.2070C>T (p.Asp690=) | |
| 12 | g.101757610G>C | CA386293719 | GNPTAB | c.3297C>G (p.Asp1099Glu) n.163C>G c.48C>G (p.Asp16Glu) c.109C>G c.3216C>G (p.Asp1072Glu) c.3081C>G (p.Asp1027Glu) c.2070C>G (p.Asp690Glu) | |
| 12 | g.101757610G>T | CA386293724 | GNPTAB | c.3297C>A (p.Asp1099Glu) n.163C>A c.48C>A (p.Asp16Glu) c.109C>A c.3216C>A (p.Asp1072Glu) c.3081C>A (p.Asp1027Glu) c.2070C>A (p.Asp690Glu) | gnomAD v4 |
| 12 | g.101757612_101757615del | CA2580085647 | GNPTAB | c.3294_3297del (p.Asp1099LysfsTer26) n.160_163del c.45_48del (p.Asp16LysfsTer26) c.106_109del c.3213_3216del (p.Asp1072LysfsTer26) c.3078_3081del (p.Asp1027LysfsTer26) c.2067_2070del (p.Asp690LysfsTer26) | ClinVar |
| 12 | g.101757611T>A | CA386293728 | GNPTAB | c.3296A>T (p.Asp1099Val) n.162A>T c.47A>T (p.Asp16Val) c.108A>T c.3215A>T (p.Asp1072Val) c.3080A>T (p.Asp1027Val) c.2069A>T (p.Asp690Val) | |
| 12 | g.101757611T>C | CA386293729 | GNPTAB | c.3296A>G (p.Asp1099Gly) n.162A>G c.47A>G (p.Asp16Gly) c.108A>G c.3215A>G (p.Asp1072Gly) c.3080A>G (p.Asp1027Gly) c.2069A>G (p.Asp690Gly) | gnomAD v4 |
| 12 | g.101757611T>G | CA386293732 | GNPTAB | c.3296A>C (p.Asp1099Ala) n.162A>C c.47A>C (p.Asp16Ala) c.108A>C c.3215A>C (p.Asp1072Ala) c.3080A>C (p.Asp1027Ala) c.2069A>C (p.Asp690Ala) | |
| 12 | g.101757612C>A | CA386293735 | GNPTAB | c.3295G>T (p.Asp1099Tyr) n.161G>T c.46G>T (p.Asp16Tyr) c.107G>T c.3214G>T (p.Asp1072Tyr) c.3079G>T (p.Asp1027Tyr) c.2068G>T (p.Asp690Tyr) | |
| 12 | g.101757612C>G | CA386293738 | GNPTAB | c.3295G>C (p.Asp1099His) n.161G>C c.46G>C (p.Asp16His) c.107G>C c.3214G>C (p.Asp1072His) c.3079G>C (p.Asp1027His) c.2068G>C (p.Asp690His) | |
| 12 | g.101757612C>T | CA386293741 | GNPTAB | c.3295G>A (p.Asp1099Asn) n.161G>A c.46G>A (p.Asp16Asn) c.107G>A c.3214G>A (p.Asp1072Asn) c.3079G>A (p.Asp1027Asn) c.2068G>A (p.Asp690Asn) | gnomAD v4 |
| 12 | g.101757613A>C | CA481318137 | GNPTAB | c.3294T>G (p.Thr1098=) n.160T>G c.45T>G (p.Thr15=) c.106T>G c.3213T>G (p.Thr1071=) c.3078T>G (p.Thr1026=) c.2067T>G (p.Thr689=) | |
| 12 | g.101757613A>G | CA481318138 | GNPTAB | c.3294T>C (p.Thr1098=) n.160T>C c.45T>C (p.Thr15=) c.106T>C c.3213T>C (p.Thr1071=) c.3078T>C (p.Thr1026=) c.2067T>C (p.Thr689=) | gnomAD v4 |
| 12 | g.101757613A>T | CA481318139 | GNPTAB | c.3294T>A (p.Thr1098=) n.160T>A c.45T>A (p.Thr15=) c.106T>A c.3213T>A (p.Thr1071=) c.3078T>A (p.Thr1026=) c.2067T>A (p.Thr689=) | |
| 12 | g.101757614G>A | CA386293743 | GNPTAB | c.3293C>T (p.Thr1098Ile) n.159C>T c.44C>T (p.Thr15Ile) c.105C>T c.3212C>T (p.Thr1071Ile) c.3077C>T (p.Thr1026Ile) c.2066C>T (p.Thr689Ile) | gnomAD v4 |
| 12 | g.101757614G>C | CA386293745 | GNPTAB | c.3293C>G (p.Thr1098Ser) n.159C>G c.44C>G (p.Thr15Ser) c.105C>G c.3212C>G (p.Thr1071Ser) c.3077C>G (p.Thr1026Ser) c.2066C>G (p.Thr689Ser) | |
| 12 | g.101757614G>T | CA386293747 | GNPTAB | c.3293C>A (p.Thr1098Asn) n.159C>A c.44C>A (p.Thr15Asn) c.105C>A c.3212C>A (p.Thr1071Asn) c.3077C>A (p.Thr1026Asn) c.2066C>A (p.Thr689Asn) | gnomAD v4 |
| 12 | g.101757615T>A | CA386293758 | GNPTAB | c.3292A>T (p.Thr1098Ser) n.158A>T c.43A>T (p.Thr15Ser) c.104A>T c.3211A>T (p.Thr1071Ser) c.3076A>T (p.Thr1026Ser) c.2065A>T (p.Thr689Ser) | gnomAD v4 |
| 12 | g.101757615T>C | CA386293761 | GNPTAB | c.3292A>G (p.Thr1098Ala) n.158A>G c.43A>G (p.Thr15Ala) c.104A>G c.3211A>G (p.Thr1071Ala) c.3076A>G (p.Thr1026Ala) c.2065A>G (p.Thr689Ala) | gnomAD v4 |
| 12 | g.101757615T>G | CA386293764 | GNPTAB | c.3292A>C (p.Thr1098Pro) n.158A>C c.43A>C (p.Thr15Pro) c.104A>C c.3211A>C (p.Thr1071Pro) c.3076A>C (p.Thr1026Pro) c.2065A>C (p.Thr689Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757615T= | CA2058952354 | GNPTAB | c.3292A= (p.Thr1098=) n.158A= c.43A= (p.Thr15=) c.104A= c.3211A= (p.Thr1071=) c.3076A= (p.Thr1026=) c.2065A= (p.Thr689=) | |
| 12 | g.101757616del | CA2620427388 | GNPTAB | c.3292del (p.Thr1098LeufsTer28) n.158del c.43del (p.Thr15LeufsTer28) c.104del c.3211del (p.Thr1071LeufsTer28) c.3076del (p.Thr1026LeufsTer28) c.2065del (p.Thr689LeufsTer28) | gnomAD v4 |
| 12 | g.101757616T>A | CA481318142 | GNPTAB | c.3291A>T (p.Val1097=) n.157A>T c.42A>T (p.Val14=) c.103A>T c.3210A>T (p.Val1070=) c.3075A>T (p.Val1025=) c.2064A>T (p.Val688=) | |
| 12 | g.101757616T>C | CA481318144 | GNPTAB | c.3291A>G (p.Val1097=) n.157A>G c.42A>G (p.Val14=) c.103A>G c.3210A>G (p.Val1070=) c.3075A>G (p.Val1025=) c.2064A>G (p.Val688=) | |
| 12 | g.101757616T>G | CA481318143 | GNPTAB | c.3291A>C (p.Val1097=) n.157A>C c.42A>C (p.Val14=) c.103A>C c.3210A>C (p.Val1070=) c.3075A>C (p.Val1025=) c.2064A>C (p.Val688=) | |
| 12 | g.101757617A>C | CA386293768 | GNPTAB | c.3290T>G (p.Val1097Gly) n.156T>G c.41T>G (p.Val14Gly) c.102T>G c.3209T>G (p.Val1070Gly) c.3074T>G (p.Val1025Gly) c.2063T>G (p.Val688Gly) | |
| 12 | g.101757617A>G | CA386293770 | GNPTAB | c.3290T>C (p.Val1097Ala) n.156T>C c.41T>C (p.Val14Ala) c.102T>C c.3209T>C (p.Val1070Ala) c.3074T>C (p.Val1025Ala) c.2063T>C (p.Val688Ala) | gnomAD v4 |
| 12 | g.101757617A>T | CA386293767 | GNPTAB | c.3290T>A (p.Val1097Glu) n.156T>A c.41T>A (p.Val14Glu) c.102T>A c.3209T>A (p.Val1070Glu) c.3074T>A (p.Val1025Glu) c.2063T>A (p.Val688Glu) | |
| 12 | g.101757618C>A | CA386293772 | GNPTAB | c.3289G>T (p.Val1097Leu) n.155G>T c.40G>T (p.Val14Leu) c.101G>T c.3208G>T (p.Val1070Leu) c.3073G>T (p.Val1025Leu) c.2062G>T (p.Val688Leu) | |
| 12 | g.101757618C= | CA2058952355 | GNPTAB | c.3289G= (p.Val1097=) n.155G= c.40G= (p.Val14=) c.101G= c.3208G= (p.Val1070=) c.3073G= (p.Val1025=) c.2062G= (p.Val688=) | |
| 12 | g.101757618C>G | CA386293773 | GNPTAB | c.3289G>C (p.Val1097Leu) n.155G>C c.40G>C (p.Val14Leu) c.101G>C c.3208G>C (p.Val1070Leu) c.3073G>C (p.Val1025Leu) c.2062G>C (p.Val688Leu) | |
| 12 | g.101757618C>T | CA386293774 | GNPTAB | c.3289G>A (p.Val1097Ile) n.155G>A c.40G>A (p.Val14Ile) c.101G>A c.3208G>A (p.Val1070Ile) c.3073G>A (p.Val1025Ile) c.2062G>A (p.Val688Ile) | dbSNP gnomAD v4 |
| 12 | g.101757619T>A | CA481318146 | GNPTAB | c.3288A>T (p.Pro1096=) n.154A>T c.39A>T (p.Pro13=) c.100A>T c.3207A>T (p.Pro1069=) c.3072A>T (p.Pro1024=) c.2061A>T (p.Pro687=) | gnomAD v4 |
| 12 | g.101757619T>C | CA481318147 | GNPTAB | c.3288A>G (p.Pro1096=) n.154A>G c.39A>G (p.Pro13=) c.100A>G c.3207A>G (p.Pro1069=) c.3072A>G (p.Pro1024=) c.2061A>G (p.Pro687=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757619T>G | CA481318148 | GNPTAB | c.3288A>C (p.Pro1096=) n.154A>C c.39A>C (p.Pro13=) c.100A>C c.3207A>C (p.Pro1069=) c.3072A>C (p.Pro1024=) c.2061A>C (p.Pro687=) | |
| 12 | g.101757619T= | CA2058952356 | GNPTAB | c.3288A= (p.Pro1096=) n.154A= c.39A= (p.Pro13=) c.100A= c.3207A= (p.Pro1069=) c.3072A= (p.Pro1024=) c.2061A= (p.Pro687=) | |
| 12 | g.101757620G>A | CA386293775 | GNPTAB | c.3287C>T (p.Pro1096Leu) n.153C>T c.38C>T (p.Pro13Leu) c.99C>T c.3206C>T (p.Pro1069Leu) c.3071C>T (p.Pro1024Leu) c.2060C>T (p.Pro687Leu) | |
| 12 | g.101757620G>C | CA386293776 | GNPTAB | c.3287C>G (p.Pro1096Arg) n.153C>G c.38C>G (p.Pro13Arg) c.99C>G c.3206C>G (p.Pro1069Arg) c.3071C>G (p.Pro1024Arg) c.2060C>G (p.Pro687Arg) | |
| 12 | g.101757620G>T | CA386293778 | GNPTAB | c.3287C>A (p.Pro1096Gln) n.153C>A c.38C>A (p.Pro13Gln) c.99C>A c.3206C>A (p.Pro1069Gln) c.3071C>A (p.Pro1024Gln) c.2060C>A (p.Pro687Gln) | gnomAD v4 |
| 12 | g.101757621G>A | CA10640655 | GNPTAB | c.3286C>T (p.Pro1096Ser) n.152C>T c.37C>T (p.Pro13Ser) c.98C>T c.3205C>T (p.Pro1069Ser) c.3070C>T (p.Pro1024Ser) c.2059C>T (p.Pro687Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.101757621G>C | CA386293781 | GNPTAB | c.3286C>G (p.Pro1096Ala) n.152C>G c.37C>G (p.Pro13Ala) c.98C>G c.3205C>G (p.Pro1069Ala) c.3070C>G (p.Pro1024Ala) c.2059C>G (p.Pro687Ala) | |
| 12 | g.101757621G= | CA2058952357 | GNPTAB | c.3286C= (p.Pro1096=) n.152C= c.37C= (p.Pro13=) c.98C= c.3205C= (p.Pro1069=) c.3070C= (p.Pro1024=) c.2059C= (p.Pro687=) | |
| 12 | g.101757621G>T | CA386293782 | GNPTAB | c.3286C>A (p.Pro1096Thr) n.152C>A c.37C>A (p.Pro13Thr) c.98C>A c.3205C>A (p.Pro1069Thr) c.3070C>A (p.Pro1024Thr) c.2059C>A (p.Pro687Thr) | gnomAD v4 |
| 12 | g.101757622T>A | CA386293788 | GNPTAB | c.3285A>T (p.Lys1095Asn) n.151A>T c.36A>T (p.Lys12Asn) c.97A>T c.3204A>T (p.Lys1068Asn) c.3069A>T (p.Lys1023Asn) c.2058A>T (p.Lys686Asn) | |
| 12 | g.101757622T>C | CA481318150 | GNPTAB | c.3285A>G (p.Lys1095=) n.151A>G c.36A>G (p.Lys12=) c.97A>G c.3204A>G (p.Lys1068=) c.3069A>G (p.Lys1023=) c.2058A>G (p.Lys686=) | |
| 12 | g.101757622T>G | CA386293792 | GNPTAB | c.3285A>C (p.Lys1095Asn) n.151A>C c.36A>C (p.Lys12Asn) c.97A>C c.3204A>C (p.Lys1068Asn) c.3069A>C (p.Lys1023Asn) c.2058A>C (p.Lys686Asn) | |
| 12 | g.101757624del | CA2620427405 | GNPTAB | c.3285del (p.Lys1095AsnfsTer3) n.151del c.36del (p.Lys12AsnfsTer3) c.97del c.3204del (p.Lys1068AsnfsTer3) c.3069del (p.Lys1023AsnfsTer3) c.2058del (p.Lys686AsnfsTer3) | gnomAD v4 |
| 12 | g.101757623T>A | CA386293794 | GNPTAB | c.3284A>T (p.Lys1095Ile) n.150A>T c.35A>T (p.Lys12Ile) c.96A>T c.3203A>T (p.Lys1068Ile) c.3068A>T (p.Lys1023Ile) c.2057A>T (p.Lys686Ile) | |
| 12 | g.101757623T>C | CA386293795 | GNPTAB | c.3284A>G (p.Lys1095Arg) n.150A>G c.35A>G (p.Lys12Arg) c.96A>G c.3203A>G (p.Lys1068Arg) c.3068A>G (p.Lys1023Arg) c.2057A>G (p.Lys686Arg) | gnomAD v4 |
| 12 | g.101757623T>G | CA386293800 | GNPTAB | c.3284A>C (p.Lys1095Thr) n.150A>C c.35A>C (p.Lys12Thr) c.96A>C c.3203A>C (p.Lys1068Thr) c.3068A>C (p.Lys1023Thr) c.2057A>C (p.Lys686Thr) | |
| 12 | g.101757624T>A | CA386293814 | GNPTAB | c.3283A>T (p.Lys1095Ter) n.149A>T c.34A>T (p.Lys12Ter) c.95A>T c.3202A>T (p.Lys1068Ter) c.3067A>T (p.Lys1023Ter) c.2056A>T (p.Lys686Ter) | gnomAD v4 |
| 12 | g.101757624T>C | CA386293820 | GNPTAB | c.3283A>G (p.Lys1095Glu) n.149A>G c.34A>G (p.Lys12Glu) c.95A>G c.3202A>G (p.Lys1068Glu) c.3067A>G (p.Lys1023Glu) c.2056A>G (p.Lys686Glu) | |
| 12 | g.101757624T>G | CA386293817 | GNPTAB | c.3283A>C (p.Lys1095Gln) n.149A>C c.34A>C (p.Lys12Gln) c.95A>C c.3202A>C (p.Lys1068Gln) c.3067A>C (p.Lys1023Gln) c.2056A>C (p.Lys686Gln) | |
| 12 | g.101757624_101757626delinsTAC | CA2058952358 | GNPTAB | c.3281_3283delinsGTA (p.Cys1094=) n.147_149delinsGTA c.32_34delinsGTA (p.Cys11=) c.93_95delinsGTA c.3200_3202delinsGTA (p.Cys1067=) c.3065_3067delinsGTA (p.Cys1022=) c.2054_2056delinsGTA (p.Cys685=) | |
| 12 | g.101757625A>C | CA386293822 | GNPTAB | c.3282T>G (p.Cys1094Trp) n.148T>G c.33T>G (p.Cys11Trp) c.94T>G c.3201T>G (p.Cys1067Trp) c.3066T>G (p.Cys1022Trp) c.2055T>G (p.Cys685Trp) | |
| 12 | g.101757625A>G | CA481318151 | GNPTAB | c.3282T>C (p.Cys1094=) n.148T>C c.33T>C (p.Cys11=) c.94T>C c.3201T>C (p.Cys1067=) c.3066T>C (p.Cys1022=) c.2055T>C (p.Cys685=) | |
| 12 | g.101757625A>T | CA386293829 | GNPTAB | c.3282T>A (p.Cys1094Ter) n.148T>A c.33T>A (p.Cys11Ter) c.94T>A c.3201T>A (p.Cys1067Ter) c.3066T>A (p.Cys1022Ter) c.2055T>A (p.Cys685Ter) | |
| 12 | g.101757626_101757627del | CA915946676 | GNPTAB | c.3281_3282del (p.Cys1094Ter) n.147_148del c.32_33del (p.Cys11Ter) c.93_94del c.3200_3201del (p.Cys1067Ter) c.3065_3066del (p.Cys1022Ter) c.2054_2055del (p.Cys685Ter) | ClinVar dbSNP |
| 12 | g.101757626C>A | CA386293832 | GNPTAB | c.3281G>T (p.Cys1094Phe) n.147G>T c.32G>T (p.Cys11Phe) c.93G>T c.3200G>T (p.Cys1067Phe) c.3065G>T (p.Cys1022Phe) c.2054G>T (p.Cys685Phe) | gnomAD v4 |
| 12 | g.101757626C>G | CA386293835 | GNPTAB | c.3281G>C (p.Cys1094Ser) n.147G>C c.32G>C (p.Cys11Ser) c.93G>C c.3200G>C (p.Cys1067Ser) c.3065G>C (p.Cys1022Ser) c.2054G>C (p.Cys685Ser) | |
| 12 | g.101757626C>T | CA386293838 | GNPTAB | c.3281G>A (p.Cys1094Tyr) n.147G>A c.32G>A (p.Cys11Tyr) c.93G>A c.3200G>A (p.Cys1067Tyr) c.3065G>A (p.Cys1022Tyr) c.2054G>A (p.Cys685Tyr) | gnomAD v4 |
| 12 | g.101757627A>C | CA386293841 | GNPTAB | c.3280T>G (p.Cys1094Gly) n.146T>G c.31T>G (p.Cys11Gly) c.92T>G c.3199T>G (p.Cys1067Gly) c.3064T>G (p.Cys1022Gly) c.2053T>G (p.Cys685Gly) | |
| 12 | g.101757627A>G | CA386293844 | GNPTAB | c.3280T>C (p.Cys1094Arg) n.146T>C c.31T>C (p.Cys11Arg) c.92T>C c.3199T>C (p.Cys1067Arg) c.3064T>C (p.Cys1022Arg) c.2053T>C (p.Cys685Arg) | gnomAD v4 |
| 12 | g.101757627A>T | CA386293845 | GNPTAB | c.3280T>A (p.Cys1094Ser) n.146T>A c.31T>A (p.Cys11Ser) c.92T>A c.3199T>A (p.Cys1067Ser) c.3064T>A (p.Cys1022Ser) c.2053T>A (p.Cys685Ser) | |
| 12 | g.101757628_101757635del | CA2740092544 | GNPTAB | c.3273_3280del (p.Thr1092Ter) n.139_146del c.24_31del (p.Thr9Ter) c.85_92del c.3192_3199del (p.Thr1065Ter) c.3057_3064del (p.Thr1020Ter) c.2046_2053del (p.Thr683Ter) | ClinVar |
| 12 | g.101757628G>A | CA481318154 | GNPTAB | c.3279C>T (p.Asn1093=) n.145C>T c.30C>T (p.Asn10=) c.91C>T c.3198C>T (p.Asn1066=) c.3063C>T (p.Asn1021=) c.2052C>T (p.Asn684=) | gnomAD v4 |
| 12 | g.101757628G>C | CA386293847 | GNPTAB | c.3279C>G (p.Asn1093Lys) n.145C>G c.30C>G (p.Asn10Lys) c.91C>G c.3198C>G (p.Asn1066Lys) c.3063C>G (p.Asn1021Lys) c.2052C>G (p.Asn684Lys) | |
| 12 | g.101757628G>T | CA386293850 | GNPTAB | c.3279C>A (p.Asn1093Lys) n.145C>A c.30C>A (p.Asn10Lys) c.91C>A c.3198C>A (p.Asn1066Lys) c.3063C>A (p.Asn1021Lys) c.2052C>A (p.Asn684Lys) | gnomAD v4 |
| 12 | g.101757629T>A | CA386293854 | GNPTAB | c.3278A>T (p.Asn1093Ile) n.144A>T c.29A>T (p.Asn10Ile) c.90A>T c.3197A>T (p.Asn1066Ile) c.3062A>T (p.Asn1021Ile) c.2051A>T (p.Asn684Ile) | |
| 12 | g.101757629T>C | CA386293860 | GNPTAB | c.3278A>G (p.Asn1093Ser) n.144A>G c.29A>G (p.Asn10Ser) c.90A>G c.3197A>G (p.Asn1066Ser) c.3062A>G (p.Asn1021Ser) c.2051A>G (p.Asn684Ser) | |
| 12 | g.101757629T>G | CA386293858 | GNPTAB | c.3278A>C (p.Asn1093Thr) n.144A>C c.29A>C (p.Asn10Thr) c.90A>C c.3197A>C (p.Asn1066Thr) c.3062A>C (p.Asn1021Thr) c.2051A>C (p.Asn684Thr) | |
| 12 | g.101757630T>A | CA386293864 | GNPTAB | c.3277A>T (p.Asn1093Tyr) n.143A>T c.28A>T (p.Asn10Tyr) c.89A>T c.3196A>T (p.Asn1066Tyr) c.3061A>T (p.Asn1021Tyr) c.2050A>T (p.Asn684Tyr) | |
| 12 | g.101757630T>C | CA386293873 | GNPTAB | c.3277A>G (p.Asn1093Asp) n.143A>G c.28A>G (p.Asn10Asp) c.89A>G c.3196A>G (p.Asn1066Asp) c.3061A>G (p.Asn1021Asp) c.2050A>G (p.Asn684Asp) | |
| 12 | g.101757630T>G | CA386293868 | GNPTAB | c.3277A>C (p.Asn1093His) n.143A>C c.28A>C (p.Asn10His) c.89A>C c.3196A>C (p.Asn1066His) c.3061A>C (p.Asn1021His) c.2050A>C (p.Asn684His) | |
| 12 | g.101757631T>A | CA6746201 | GNPTAB | c.3276A>T (p.Thr1092=) n.142A>T c.27A>T (p.Thr9=) c.88A>T c.3195A>T (p.Thr1065=) c.3060A>T (p.Thr1020=) c.2049A>T (p.Thr683=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757631T>C | CA481318157 | GNPTAB | c.3276A>G (p.Thr1092=) n.142A>G c.27A>G (p.Thr9=) c.88A>G c.3195A>G (p.Thr1065=) c.3060A>G (p.Thr1020=) c.2049A>G (p.Thr683=) | gnomAD v4 |
| 12 | g.101757631T>G | CA481318158 | GNPTAB | c.3276A>C (p.Thr1092=) n.142A>C c.27A>C (p.Thr9=) c.88A>C c.3195A>C (p.Thr1065=) c.3060A>C (p.Thr1020=) c.2049A>C (p.Thr683=) | |
| 12 | g.101757631T= | CA2058952359 | GNPTAB | c.3276A= (p.Thr1092=) n.142A= c.27A= (p.Thr9=) c.88A= c.3195A= (p.Thr1065=) c.3060A= (p.Thr1020=) c.2049A= (p.Thr683=) | |
| 12 | g.101757632G>A | CA386293906 | GNPTAB | c.3275C>T (p.Thr1092Ile) n.141C>T c.26C>T (p.Thr9Ile) c.87C>T c.3194C>T (p.Thr1065Ile) c.3059C>T (p.Thr1020Ile) c.2048C>T (p.Thr683Ile) | gnomAD v4 |
| 12 | g.101757632G>C | CA386293880 | GNPTAB | c.3275C>G (p.Thr1092Arg) n.141C>G c.26C>G (p.Thr9Arg) c.87C>G c.3194C>G (p.Thr1065Arg) c.3059C>G (p.Thr1020Arg) c.2048C>G (p.Thr683Arg) | |
| 12 | g.101757632G>T | CA386293893 | GNPTAB | c.3275C>A (p.Thr1092Lys) n.141C>A c.26C>A (p.Thr9Lys) c.87C>A c.3194C>A (p.Thr1065Lys) c.3059C>A (p.Thr1020Lys) c.2048C>A (p.Thr683Lys) | gnomAD v4 |
| 12 | g.101757633T>A | CA386293909 | GNPTAB | c.3274A>T (p.Thr1092Ser) n.140A>T c.25A>T (p.Thr9Ser) c.86A>T c.3193A>T (p.Thr1065Ser) c.3058A>T (p.Thr1020Ser) c.2047A>T (p.Thr683Ser) | |
| 12 | g.101757633T>C | CA386293917 | GNPTAB | c.3274A>G (p.Thr1092Ala) n.140A>G c.25A>G (p.Thr9Ala) c.86A>G c.3193A>G (p.Thr1065Ala) c.3058A>G (p.Thr1020Ala) c.2047A>G (p.Thr683Ala) | gnomAD v4 |
| 12 | g.101757633T>G | CA386293919 | GNPTAB | c.3274A>C (p.Thr1092Pro) n.140A>C c.25A>C (p.Thr9Pro) c.86A>C c.3193A>C (p.Thr1065Pro) c.3058A>C (p.Thr1020Pro) c.2047A>C (p.Thr683Pro) | |
| 12 | g.101757634del | CA2620427429 | GNPTAB | c.3274del (p.Thr1092GlnfsTer6) n.140del c.25del (p.Thr9GlnfsTer6) c.86del c.3193del (p.Thr1065GlnfsTer6) c.3058del (p.Thr1020GlnfsTer6) c.2047del (p.Thr683GlnfsTer6) | gnomAD v4 |
| 12 | g.101757634T>A | CA481318166 | GNPTAB | c.3273A>T (p.Val1091=) n.139A>T c.24A>T (p.Val8=) c.85A>T c.3192A>T (p.Val1064=) c.3057A>T (p.Val1019=) c.2046A>T (p.Val682=) | |
| 12 | g.101757634T>C | CA481318163 | GNPTAB | c.3273A>G (p.Val1091=) n.139A>G c.24A>G (p.Val8=) c.85A>G c.3192A>G (p.Val1064=) c.3057A>G (p.Val1019=) c.2046A>G (p.Val682=) | gnomAD v4 |
| 12 | g.101757634T>G | CA481318164 | GNPTAB | c.3273A>C (p.Val1091=) n.139A>C c.24A>C (p.Val8=) c.85A>C c.3192A>C (p.Val1064=) c.3057A>C (p.Val1019=) c.2046A>C (p.Val682=) | gnomAD v4 |
| 12 | g.101757635A= | CA2058952360 | GNPTAB | c.3272T= (p.Val1091=) n.138T= c.23T= (p.Val8=) c.84T= c.3191T= (p.Val1064=) c.3056T= (p.Val1019=) c.2045T= (p.Val682=) | |
| 12 | g.101757635A>C | CA6746202 | GNPTAB | c.3272T>G (p.Val1091Gly) n.138T>G c.23T>G (p.Val8Gly) c.84T>G c.3191T>G (p.Val1064Gly) c.3056T>G (p.Val1019Gly) c.2045T>G (p.Val682Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757635A>G | CA386293932 | GNPTAB | c.3272T>C (p.Val1091Ala) n.138T>C c.23T>C (p.Val8Ala) c.84T>C c.3191T>C (p.Val1064Ala) c.3056T>C (p.Val1019Ala) c.2045T>C (p.Val682Ala) | gnomAD v4 |
| 12 | g.101757635A>T | CA386293935 | GNPTAB | c.3272T>A (p.Val1091Glu) n.138T>A c.23T>A (p.Val8Glu) c.84T>A c.3191T>A (p.Val1064Glu) c.3056T>A (p.Val1019Glu) c.2045T>A (p.Val682Glu) | |
| 12 | g.101757635dup | CA645594558 | GNPTAB | c.3272dup (p.Thr1092AsnfsTer4) n.138dup c.23dup (p.Thr9AsnfsTer4) c.84dup c.3191dup (p.Thr1065AsnfsTer4) c.3056dup (p.Thr1020AsnfsTer4) c.2045dup (p.Thr683AsnfsTer4) | COSMIC |
| 12 | g.101757635_101757636del | CA2580085648 | GNPTAB | c.3271_3272del (p.Val1091AsnfsTer4) n.137_138del c.22_23del (p.Val8AsnfsTer4) c.83_84del c.3190_3191del (p.Val1064AsnfsTer4) c.3055_3056del (p.Val1019AsnfsTer4) c.2044_2045del (p.Val682AsnfsTer4) | ClinVar |
| 12 | g.101757635_101757636insT | CA481318168 | GNPTAB | c.3271_3272insA (p.Val1091AspfsTer5) n.137_138insA c.22_23insA (p.Val8AspfsTer5) c.83_84insA c.3190_3191insA (p.Val1064AspfsTer5) c.3055_3056insA (p.Val1019AspfsTer5) c.2044_2045insA (p.Val682AspfsTer5) | |
| 12 | g.101757636C>A | CA386293940 | GNPTAB | c.3271G>T (p.Val1091Leu) n.137G>T c.22G>T (p.Val8Leu) c.83G>T c.3190G>T (p.Val1064Leu) c.3055G>T (p.Val1019Leu) c.2044G>T (p.Val682Leu) | |
| 12 | g.101757636C= | CA2058952361 | GNPTAB | c.3271G= (p.Val1091=) n.137G= c.22G= (p.Val8=) c.83G= c.3190G= (p.Val1064=) c.3055G= (p.Val1019=) c.2044G= (p.Val682=) | |
| 12 | g.101757636C>G | CA6746204 | GNPTAB | c.3271G>C (p.Val1091Leu) n.137G>C c.22G>C (p.Val8Leu) c.83G>C c.3190G>C (p.Val1064Leu) c.3055G>C (p.Val1019Leu) c.2044G>C (p.Val682Leu) | dbSNP ExAC gnomAD v2 |
| 12 | g.101757636C>T | CA6746203 | GNPTAB | c.3271G>A (p.Val1091Ile) n.137G>A c.22G>A (p.Val8Ile) c.83G>A c.3190G>A (p.Val1064Ile) c.3055G>A (p.Val1019Ile) c.2044G>A (p.Val682Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757637del | CA2575264914 | GNPTAB | c.3270del (p.Val1091Ter) n.136del c.21del (p.Val8Ter) c.82del c.3189del (p.Val1064Ter) c.3054del (p.Val1019Ter) c.2043del (p.Val682Ter) | gnomAD v4 |
| 12 | g.101757637T>A | CA481318171 | GNPTAB | c.3270A>T (p.Leu1090=) n.136A>T c.21A>T (p.Leu7=) c.82A>T c.3189A>T (p.Leu1063=) c.3054A>T (p.Leu1018=) c.2043A>T (p.Leu681=) | ClinVar gnomAD v4 |
| 12 | g.101757637T>C | CA481318174 | GNPTAB | c.3270A>G (p.Leu1090=) n.136A>G c.21A>G (p.Leu7=) c.82A>G c.3189A>G (p.Leu1063=) c.3054A>G (p.Leu1018=) c.2043A>G (p.Leu681=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757637T>G | CA481318176 | GNPTAB | c.3270A>C (p.Leu1090=) n.136A>C c.21A>C (p.Leu7=) c.82A>C c.3189A>C (p.Leu1063=) c.3054A>C (p.Leu1018=) c.2043A>C (p.Leu681=) | |
| 12 | g.101757637T= | CA2058952362 | GNPTAB | c.3270A= (p.Leu1090=) n.136A= c.21A= (p.Leu7=) c.82A= c.3189A= (p.Leu1063=) c.3054A= (p.Leu1018=) c.2043A= (p.Leu681=) | |
| 12 | g.101757638A>C | CA386293953 | GNPTAB | c.3269T>G (p.Leu1090Arg) n.135T>G c.20T>G (p.Leu7Arg) c.81T>G c.3188T>G (p.Leu1063Arg) c.3053T>G (p.Leu1018Arg) c.2042T>G (p.Leu681Arg) | |
| 12 | g.101757638A>G | CA386293949 | GNPTAB | c.3269T>C (p.Leu1090Pro) n.135T>C c.20T>C (p.Leu7Pro) c.81T>C c.3188T>C (p.Leu1063Pro) c.3053T>C (p.Leu1018Pro) c.2042T>C (p.Leu681Pro) | gnomAD v4 |
| 12 | g.101757638A>T | CA386293950 | GNPTAB | c.3269T>A (p.Leu1090Gln) n.135T>A c.20T>A (p.Leu7Gln) c.81T>A c.3188T>A (p.Leu1063Gln) c.3053T>A (p.Leu1018Gln) c.2042T>A (p.Leu681Gln) | |
| 12 | g.101757639G>A | CA6746205 | GNPTAB | c.3268C>T (p.Leu1090=) n.134C>T c.19C>T (p.Leu7=) c.80C>T c.3187C>T (p.Leu1063=) c.3052C>T (p.Leu1018=) c.2041C>T (p.Leu681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757639G>C | CA386293958 | GNPTAB | c.3268C>G (p.Leu1090Val) n.134C>G c.19C>G (p.Leu7Val) c.80C>G c.3187C>G (p.Leu1063Val) c.3052C>G (p.Leu1018Val) c.2041C>G (p.Leu681Val) | |
| 12 | g.101757639G= | CA2058952363 | GNPTAB | c.3268C= (p.Leu1090=) n.134C= c.19C= (p.Leu7=) c.80C= c.3187C= (p.Leu1063=) c.3052C= (p.Leu1018=) c.2041C= (p.Leu681=) | |
| 12 | g.101757639G>T | CA386293960 | GNPTAB | c.3268C>A (p.Leu1090Ile) n.134C>A c.19C>A (p.Leu7Ile) c.80C>A c.3187C>A (p.Leu1063Ile) c.3052C>A (p.Leu1018Ile) c.2041C>A (p.Leu681Ile) | gnomAD v4 |
| 12 | g.101757640A= | CA2058952364 | GNPTAB | c.3267T= (p.Ser1089=) n.133T= c.18T= (p.Ser6=) c.79T= c.3186T= (p.Ser1062=) c.3051T= (p.Ser1017=) c.2040T= (p.Ser680=) | |
| 12 | g.101757640A>C | CA386293962 | GNPTAB | c.3267T>G (p.Ser1089Arg) n.133T>G c.18T>G (p.Ser6Arg) c.79T>G c.3186T>G (p.Ser1062Arg) c.3051T>G (p.Ser1017Arg) c.2040T>G (p.Ser680Arg) | |
| 12 | g.101757640A>G | CA481318178 | GNPTAB | c.3267T>C (p.Ser1089=) n.133T>C c.18T>C (p.Ser6=) c.79T>C c.3186T>C (p.Ser1062=) c.3051T>C (p.Ser1017=) c.2040T>C (p.Ser680=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757640A>T | CA386293964 | GNPTAB | c.3267T>A (p.Ser1089Arg) n.133T>A c.18T>A (p.Ser6Arg) c.79T>A c.3186T>A (p.Ser1062Arg) c.3051T>A (p.Ser1017Arg) c.2040T>A (p.Ser680Arg) | |
| 12 | g.101757641C>A | CA386293970 | GNPTAB | c.3266G>T (p.Ser1089Ile) n.132G>T c.17G>T (p.Ser6Ile) c.78G>T c.3185G>T (p.Ser1062Ile) c.3050G>T (p.Ser1017Ile) c.2039G>T (p.Ser680Ile) | |
| 12 | g.101757641C= | CA2058952365 | GNPTAB | c.3266G= (p.Ser1089=) n.132G= c.17G= (p.Ser6=) c.78G= c.3185G= (p.Ser1062=) c.3050G= (p.Ser1017=) c.2039G= (p.Ser680=) | |
| 12 | g.101757641C>G | CA386293972 | GNPTAB | c.3266G>C (p.Ser1089Thr) n.132G>C c.17G>C (p.Ser6Thr) c.78G>C c.3185G>C (p.Ser1062Thr) c.3050G>C (p.Ser1017Thr) c.2039G>C (p.Ser680Thr) | |
| 12 | g.101757641C>T | CA386293976 | GNPTAB | c.3266G>A (p.Ser1089Asn) n.132G>A c.17G>A (p.Ser6Asn) c.78G>A c.3185G>A (p.Ser1062Asn) c.3050G>A (p.Ser1017Asn) c.2039G>A (p.Ser680Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757642T>A | CA6746206 | GNPTAB | c.3265A>T (p.Ser1089Cys) n.131A>T c.16A>T (p.Ser6Cys) c.77A>T c.3184A>T (p.Ser1062Cys) c.3049A>T (p.Ser1017Cys) c.2038A>T (p.Ser680Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757642T>C | CA386293979 | GNPTAB | c.3265A>G (p.Ser1089Gly) n.131A>G c.16A>G (p.Ser6Gly) c.77A>G c.3184A>G (p.Ser1062Gly) c.3049A>G (p.Ser1017Gly) c.2038A>G (p.Ser680Gly) | gnomAD v4 |
| 12 | g.101757642T>G | CA386293984 | GNPTAB | c.3265A>C (p.Ser1089Arg) n.131A>C c.16A>C (p.Ser6Arg) c.77A>C c.3184A>C (p.Ser1062Arg) c.3049A>C (p.Ser1017Arg) c.2038A>C (p.Ser680Arg) | |
| 12 | g.101757642T= | CA2058952366 | GNPTAB | c.3265A= (p.Ser1089=) n.131A= c.16A= (p.Ser6=) c.77A= c.3184A= (p.Ser1062=) c.3049A= (p.Ser1017=) c.2038A= (p.Ser680=) | |
| 12 | g.101757645del | CA2575264924 | GNPTAB | c.3265del (p.Ser1089ValfsTer2) n.131del c.16del (p.Ser6ValfsTer2) c.77del c.3184del (p.Ser1062ValfsTer2) c.3049del (p.Ser1017ValfsTer2) c.2038del (p.Ser680ValfsTer2) | gnomAD v4 |
| 12 | g.101757644_101757645del | CA2575264925 | GNPTAB | c.3264_3265del (p.Leu1090SerfsTer5) n.130_131del c.15_16del (p.Leu7SerfsTer5) c.76_77del c.3183_3184del (p.Leu1063SerfsTer5) c.3048_3049del (p.Leu1018SerfsTer5) c.2037_2038del (p.Leu681SerfsTer5) | |
| 12 | g.101757643T>A | CA386293991 | GNPTAB | c.3264A>T (p.Lys1088Asn) n.130A>T c.15A>T (p.Lys5Asn) c.76A>T c.3183A>T (p.Lys1061Asn) c.3048A>T (p.Lys1016Asn) c.2037A>T (p.Lys679Asn) | |
| 12 | g.101757643T>C | CA481318182 | GNPTAB | c.3264A>G (p.Lys1088=) n.130A>G c.15A>G (p.Lys5=) c.76A>G c.3183A>G (p.Lys1061=) c.3048A>G (p.Lys1016=) c.2037A>G (p.Lys679=) | gnomAD v4 |
| 12 | g.101757643T>G | CA386293988 | GNPTAB | c.3264A>C (p.Lys1088Asn) n.130A>C c.15A>C (p.Lys5Asn) c.76A>C c.3183A>C (p.Lys1061Asn) c.3048A>C (p.Lys1016Asn) c.2037A>C (p.Lys679Asn) | |
| 12 | g.101757644T>A | CA386293994 | GNPTAB | c.3263A>T (p.Lys1088Ile) n.129A>T c.14A>T (p.Lys5Ile) c.75A>T c.3182A>T (p.Lys1061Ile) c.3047A>T (p.Lys1016Ile) c.2036A>T (p.Lys679Ile) | |
| 12 | g.101757644T>C | CA386293995 | GNPTAB | c.3263A>G (p.Lys1088Arg) n.129A>G c.14A>G (p.Lys5Arg) c.75A>G c.3182A>G (p.Lys1061Arg) c.3047A>G (p.Lys1016Arg) c.2036A>G (p.Lys679Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757644T>G | CA386293996 | GNPTAB | c.3263A>C (p.Lys1088Thr) n.129A>C c.14A>C (p.Lys5Thr) c.75A>C c.3182A>C (p.Lys1061Thr) c.3047A>C (p.Lys1016Thr) c.2036A>C (p.Lys679Thr) | |
| 12 | g.101757644T= | CA2058952367 | GNPTAB | c.3263A= (p.Lys1088=) n.129A= c.14A= (p.Lys5=) c.75A= c.3182A= (p.Lys1061=) c.3047A= (p.Lys1016=) c.2036A= (p.Lys679=) | |
| 12 | g.101757645T>A | CA386293999 | GNPTAB | c.3262A>T (p.Lys1088Ter) n.128A>T c.13A>T (p.Lys5Ter) c.74A>T c.3181A>T (p.Lys1061Ter) c.3046A>T (p.Lys1016Ter) c.2035A>T (p.Lys679Ter) | |
| 12 | g.101757645T>C | CA386294001 | GNPTAB | c.3262A>G (p.Lys1088Glu) n.128A>G c.13A>G (p.Lys5Glu) c.74A>G c.3181A>G (p.Lys1061Glu) c.3046A>G (p.Lys1016Glu) c.2035A>G (p.Lys679Glu) | gnomAD v4 |
| 12 | g.101757645T>G | CA386294003 | GNPTAB | c.3262A>C (p.Lys1088Gln) n.128A>C c.13A>C (p.Lys5Gln) c.74A>C c.3181A>C (p.Lys1061Gln) c.3046A>C (p.Lys1016Gln) c.2035A>C (p.Lys679Gln) | |
| 12 | g.101757646A>C | CA481318186 | GNPTAB | c.3261T>G (p.Thr1087=) n.127T>G c.12T>G (p.Thr4=) c.73T>G c.3180T>G (p.Thr1060=) c.3045T>G (p.Thr1015=) c.2034T>G (p.Thr678=) | |
| 12 | g.101757646A>G | CA481318189 | GNPTAB | c.3261T>C (p.Thr1087=) n.127T>C c.12T>C (p.Thr4=) c.73T>C c.3180T>C (p.Thr1060=) c.3045T>C (p.Thr1015=) c.2034T>C (p.Thr678=) | gnomAD v4 |
| 12 | g.101757646A>T | CA481318191 | GNPTAB | c.3261T>A (p.Thr1087=) n.127T>A c.12T>A (p.Thr4=) c.73T>A c.3180T>A (p.Thr1060=) c.3045T>A (p.Thr1015=) c.2034T>A (p.Thr678=) | |
| 12 | g.101757647G>A | CA6746207 | GNPTAB | c.3260C>T (p.Thr1087Ile) n.126C>T c.11C>T (p.Thr4Ile) c.72C>T c.3179C>T (p.Thr1060Ile) c.3044C>T (p.Thr1015Ile) c.2033C>T (p.Thr678Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757647G>C | CA6746208 | GNPTAB | c.3260C>G (p.Thr1087Ser) n.126C>G c.11C>G (p.Thr4Ser) c.72C>G c.3179C>G (p.Thr1060Ser) c.3044C>G (p.Thr1015Ser) c.2033C>G (p.Thr678Ser) | dbSNP ExAC gnomAD v2 |
| 12 | g.101757647G= | CA2058952368 | GNPTAB | c.3260C= (p.Thr1087=) n.126C= c.11C= (p.Thr4=) c.72C= c.3179C= (p.Thr1060=) c.3044C= (p.Thr1015=) c.2033C= (p.Thr678=) | |
| 12 | g.101757647G>T | CA386294008 | GNPTAB | c.3260C>A (p.Thr1087Asn) n.126C>A c.11C>A (p.Thr4Asn) c.72C>A c.3179C>A (p.Thr1060Asn) c.3044C>A (p.Thr1015Asn) c.2033C>A (p.Thr678Asn) | gnomAD v4 |
| 12 | g.101757648T>A | CA386294011 | GNPTAB | c.3259A>T (p.Thr1087Ser) n.125A>T c.10A>T (p.Thr4Ser) c.71A>T c.3178A>T (p.Thr1060Ser) c.3043A>T (p.Thr1015Ser) c.2032A>T (p.Thr678Ser) | |
| 12 | g.101757648T>C | CA386294013 | GNPTAB | c.3259A>G (p.Thr1087Ala) n.125A>G c.10A>G (p.Thr4Ala) c.71A>G c.3178A>G (p.Thr1060Ala) c.3043A>G (p.Thr1015Ala) c.2032A>G (p.Thr678Ala) | gnomAD v4 |
| 12 | g.101757648T>G | CA386294018 | GNPTAB | c.3259A>C (p.Thr1087Pro) n.125A>C c.10A>C (p.Thr4Pro) c.71A>C c.3178A>C (p.Thr1060Pro) c.3043A>C (p.Thr1015Pro) c.2032A>C (p.Thr678Pro) | |
| 12 | g.101757649G>A | CA481318195 | GNPTAB | c.3258C>T (p.Val1086=) n.124C>T c.9C>T (p.Val3=) c.70C>T c.3177C>T (p.Val1059=) c.3042C>T (p.Val1014=) c.2031C>T (p.Val677=) | gnomAD v4 |
| 12 | g.101757649G>C | CA481318199 | GNPTAB | c.3258C>G (p.Val1086=) n.124C>G c.9C>G (p.Val3=) c.70C>G c.3177C>G (p.Val1059=) c.3042C>G (p.Val1014=) c.2031C>G (p.Val677=) | |
| 12 | g.101757649G>T | CA481318196 | GNPTAB | c.3258C>A (p.Val1086=) n.124C>A c.9C>A (p.Val3=) c.70C>A c.3177C>A (p.Val1059=) c.3042C>A (p.Val1014=) c.2031C>A (p.Val677=) | gnomAD v4 |
| 12 | g.101757650A>C | CA386294029 | GNPTAB | c.3257T>G (p.Val1086Gly) n.123T>G c.8T>G (p.Val3Gly) c.69T>G c.3176T>G (p.Val1059Gly) c.3041T>G (p.Val1014Gly) c.2030T>G (p.Val677Gly) | |
| 12 | g.101757650A>G | CA386294020 | GNPTAB | c.3257T>C (p.Val1086Ala) n.123T>C c.8T>C (p.Val3Ala) c.69T>C c.3176T>C (p.Val1059Ala) c.3041T>C (p.Val1014Ala) c.2030T>C (p.Val677Ala) | gnomAD v4 |
| 12 | g.101757650A>T | CA386294022 | GNPTAB | c.3257T>A (p.Val1086Asp) n.123T>A c.8T>A (p.Val3Asp) c.69T>A c.3176T>A (p.Val1059Asp) c.3041T>A (p.Val1014Asp) c.2030T>A (p.Val677Asp) | |
| 12 | g.101757651C>A | CA386294033 | GNPTAB | c.3256G>T (p.Val1086Phe) n.122G>T c.7G>T (p.Val3Phe) c.68G>T c.3175G>T (p.Val1059Phe) c.3040G>T (p.Val1014Phe) c.2029G>T (p.Val677Phe) | dbSNP |
| 12 | g.101757651C= | CA2058952369 | GNPTAB | c.3256G= (p.Val1086=) n.122G= c.7G= (p.Val3=) c.68G= c.3175G= (p.Val1059=) c.3040G= (p.Val1014=) c.2029G= (p.Val677=) | |
| 12 | g.101757651C>G | CA386294040 | GNPTAB | c.3256G>C (p.Val1086Leu) n.122G>C c.7G>C (p.Val3Leu) c.68G>C c.3175G>C (p.Val1059Leu) c.3040G>C (p.Val1014Leu) c.2029G>C (p.Val677Leu) | |
| 12 | g.101757651C>T | CA386294044 | GNPTAB | c.3256G>A (p.Val1086Ile) n.122G>A c.7G>A (p.Val3Ile) c.68G>A c.3175G>A (p.Val1059Ile) c.3040G>A (p.Val1014Ile) c.2029G>A (p.Val677Ile) | gnomAD v4 |
| 12 | g.101757652del | CA2620427513 | GNPTAB | c.3256del (p.Val1086SerfsTer5) n.122del c.7del (p.Val3SerfsTer5) c.68del c.3175del (p.Val1059SerfsTer5) c.3040del (p.Val1014SerfsTer5) c.2029del (p.Val677SerfsTer5) | gnomAD v4 |
| 12 | g.101757652C>A | CA481318202 | GNPTAB | c.3255G>T (p.Pro1085=) n.121G>T c.6G>T (p.Pro2=) c.67G>T c.3174G>T (p.Pro1058=) c.3039G>T (p.Pro1013=) c.2028G>T (p.Pro676=) | gnomAD v4 |
| 12 | g.101757652C= | CA2058952370 | GNPTAB | c.3255G= (p.Pro1085=) n.121G= c.6G= (p.Pro2=) c.67G= c.3174G= (p.Pro1058=) c.3039G= (p.Pro1013=) c.2028G= (p.Pro676=) | |
| 12 | g.101757652C>G | CA6746209 | GNPTAB | c.3255G>C (p.Pro1085=) n.121G>C c.6G>C (p.Pro2=) c.67G>C c.3174G>C (p.Pro1058=) c.3039G>C (p.Pro1013=) c.2028G>C (p.Pro676=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757652C>T | CA6746210 | GNPTAB | c.3255G>A (p.Pro1085=) n.121G>A c.6G>A (p.Pro2=) c.67G>A c.3174G>A (p.Pro1058=) c.3039G>A (p.Pro1013=) c.2028G>A (p.Pro676=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757653G>A | CA6746211 | GNPTAB | c.3254C>T (p.Pro1085Leu) n.120C>T c.5C>T (p.Pro2Leu) c.66C>T c.3173C>T (p.Pro1058Leu) c.3038C>T (p.Pro1013Leu) c.2027C>T (p.Pro676Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.101757653G>C | CA386294057 | GNPTAB | c.3254C>G (p.Pro1085Arg) n.120C>G c.5C>G (p.Pro2Arg) c.66C>G c.3173C>G (p.Pro1058Arg) c.3038C>G (p.Pro1013Arg) c.2027C>G (p.Pro676Arg) | dbSNP gnomAD v4 |
| 12 | g.101757653G= | CA2058952371 | GNPTAB | c.3254C= (p.Pro1085=) n.120C= c.5C= (p.Pro2=) c.66C= c.3173C= (p.Pro1058=) c.3038C= (p.Pro1013=) c.2027C= (p.Pro676=) | |
| 12 | g.101757653G>T | CA386294060 | GNPTAB | c.3254C>A (p.Pro1085Gln) n.120C>A c.5C>A (p.Pro2Gln) c.66C>A c.3173C>A (p.Pro1058Gln) c.3038C>A (p.Pro1013Gln) c.2027C>A (p.Pro676Gln) | gnomAD v4 |
| 12 | g.101757654dup | CA2580085650 | GNPTAB | c.3254dup (p.Val1086GlyfsTer3) n.120dup c.5dup (p.Val3GlyfsTer3) c.66dup c.3173dup (p.Val1059GlyfsTer3) c.3038dup (p.Val1014GlyfsTer3) c.2027dup (p.Val677GlyfsTer3) | ClinVar |
| 12 | g.101757654G>A | CA386294064 | GNPTAB | c.3253C>T (p.Pro1085Ser) n.119C>T c.4C>T (p.Pro2Ser) c.65C>T c.3172C>T (p.Pro1058Ser) c.3037C>T (p.Pro1013Ser) c.2026C>T (p.Pro676Ser) | gnomAD v4 |
| 12 | g.101757654G>C | CA386294065 | GNPTAB | c.3253C>G (p.Pro1085Ala) n.119C>G c.4C>G (p.Pro2Ala) c.65C>G c.3172C>G (p.Pro1058Ala) c.3037C>G (p.Pro1013Ala) c.2026C>G (p.Pro676Ala) | |
| 12 | g.101757654G>T | CA386294068 | GNPTAB | c.3253C>A (p.Pro1085Thr) n.119C>A c.4C>A (p.Pro2Thr) c.65C>A c.3172C>A (p.Pro1058Thr) c.3037C>A (p.Pro1013Thr) c.2026C>A (p.Pro676Thr) | gnomAD v4 |
| 12 | g.101757654_101757655delinsGT | CA2058952372 | GNPTAB | c.3252_3253delinsAC (p.Pro1084=) n.118_119delinsAC c.3_4delinsAC (p.Pro1=) c.64_65delinsAC c.3171_3172delinsAC (p.Pro1057=) c.3036_3037delinsAC (p.Pro1012=) c.2025_2026delinsAC (p.Pro675=) | |
| 12 | g.101757655del | CA343077 | GNPTAB | c.3252del (p.Pro1085ArgfsTer6) n.118del c.3del (p.Pro2ArgfsTer6) c.64del c.3171del (p.Pro1058ArgfsTer6) c.3036del (p.Pro1013ArgfsTer6) c.2025del (p.Pro676ArgfsTer6) | ClinVar dbSNP |
| 12 | g.101757655T>A | CA481318207 | GNPTAB | c.3252A>T (p.Pro1084=) n.118A>T c.3A>T (p.Pro1=) c.64A>T c.3171A>T (p.Pro1057=) c.3036A>T (p.Pro1012=) c.2025A>T (p.Pro675=) | |
| 12 | g.101757655T>C | CA481318208 | GNPTAB | c.3252A>G (p.Pro1084=) n.118A>G c.3A>G (p.Pro1=) c.64A>G c.3171A>G (p.Pro1057=) c.3036A>G (p.Pro1012=) c.2025A>G (p.Pro675=) | gnomAD v4 |
| 12 | g.101757655T>G | CA481318209 | GNPTAB | c.3252A>C (p.Pro1084=) n.118A>C c.3A>C (p.Pro1=) c.64A>C c.3171A>C (p.Pro1057=) c.3036A>C (p.Pro1012=) c.2025A>C (p.Pro675=) | |
| 12 | g.101757656G>A | CA386294076 | GNPTAB | c.3251C>T (p.Pro1084Leu) n.117C>T c.2C>T (p.Pro1Leu) c.63C>T c.3170C>T (p.Pro1057Leu) c.3035C>T (p.Pro1012Leu) c.2024C>T (p.Pro675Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757656G>C | CA6746212 | GNPTAB | c.3251C>G (p.Pro1084Arg) n.117C>G c.2C>G (p.Pro1Arg) c.63C>G c.3170C>G (p.Pro1057Arg) c.3035C>G (p.Pro1012Arg) c.2024C>G (p.Pro675Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101757656G= | CA2058952373 | GNPTAB | c.3251C= (p.Pro1084=) n.117C= c.2C= (p.Pro1=) c.63C= c.3170C= (p.Pro1057=) c.3035C= (p.Pro1012=) c.2024C= (p.Pro675=) | |
| 12 | g.101757656G>T | CA386294073 | GNPTAB | c.3251C>A (p.Pro1084Gln) n.117C>A c.2C>A (p.Pro1Gln) c.63C>A c.3170C>A (p.Pro1057Gln) c.3035C>A (p.Pro1012Gln) c.2024C>A (p.Pro675Gln) | gnomAD v4 |
| 12 | g.101757657del | CA2620427559 | GNPTAB | c.3251del (p.Pro1084HisfsTer7) n.117del c.2del (p.Pro1HisfsTer7) c.63del c.3170del (p.Pro1057HisfsTer7) c.3035del (p.Pro1012HisfsTer7) c.2024del (p.Pro675HisfsTer7) | gnomAD v4 |
| 12 | g.101757657G>A | CA386294090 | GNPTAB | c.3250C>T (p.Pro1084Ser) n.116C>T c.1C>T (p.Pro1Ser) c.62C>T c.3169C>T (p.Pro1057Ser) c.3034C>T (p.Pro1012Ser) c.2023C>T (p.Pro675Ser) | gnomAD v4 |
| 12 | g.101757657G>C | CA386294080 | GNPTAB | c.3250C>G (p.Pro1084Ala) n.116C>G c.1C>G (p.Pro1Ala) c.62C>G c.3169C>G (p.Pro1057Ala) c.3034C>G (p.Pro1012Ala) c.2023C>G (p.Pro675Ala) | |
| 12 | g.101757657G>T | CA386294084 | GNPTAB | c.3250C>A (p.Pro1084Thr) n.116C>A c.1C>A (p.Pro1Thr) c.62C>A c.3169C>A (p.Pro1057Thr) c.3034C>A (p.Pro1012Thr) c.2023C>A (p.Pro675Thr) | gnomAD v4 |
| 12 | g.101757657_101757658delinsAT | CA16609426 | GNPTAB | c.3250-1_3250delinsAT n.116-1_116delinsAT c.62-1_62delinsAT c.3169-1_3169delinsAT c.3034-1_3034delinsAT c.2023-1_2023delinsAT | ClinVar dbSNP |
| 12 | g.101757657_101757658delinsGC | CA2058952374 | GNPTAB | c.3250-1_3250delinsGC n.116-1_116delinsGC c.62-1_62delinsGC c.3169-1_3169delinsGC c.3034-1_3034delinsGC c.2023-1_2023delinsGC | |
| 12 | g.101757658C>A | CA386294094 | GNPTAB | c.3250-1G>T (n.3250-1G>T) n.116-1G>T c.62-1G>T c.3169-1G>T (n.3169-1G>T) c.3034-1G>T (n.3034-1G>T) c.2023-1G>T (n.2023-1G>T) | |
| 12 | g.101757658C= | CA2058952375 | GNPTAB | c.3250-1G= (n.3250-1G=) n.116-1G= c.62-1G= c.3169-1G= (n.3169-1G=) c.3034-1G= (n.3034-1G=) c.2023-1G= (n.2023-1G=) | |
| 12 | g.101757658C>G | CA386294098 | GNPTAB | c.3250-1G>C (n.3250-1G>C) n.116-1G>C c.62-1G>C c.3169-1G>C (n.3169-1G>C) c.3034-1G>C (n.3034-1G>C) c.2023-1G>C (n.2023-1G>C) | |
| 12 | g.101757658C>T | CA386294100 | GNPTAB | c.3250-1G>A (n.3250-1G>A) n.116-1G>A c.62-1G>A c.3169-1G>A (n.3169-1G>A) c.3034-1G>A (n.3034-1G>A) c.2023-1G>A (n.2023-1G>A) | gnomAD v4 |
| 12 | g.101757658_101757659insAGG | CA607597937 | GNPTAB | c.3250-2_3250-1insCCT (n.3250-2_3250-1insCCT) n.116-2_116-1insCCT c.62-2_62-1insCCT c.3169-2_3169-1insCCT (n.3169-2_3169-1insCCT) c.3034-2_3034-1insCCT (n.3034-2_3034-1insCCT) c.2023-2_2023-1insCCT (n.2023-2_2023-1insCCT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCA | CA607597938 | GNPTAB | c.3250-2_3250-1insTGATCCCAACCT (n.3250-2_3250-1insTGATCCCAACCT) n.116-2_116-1insTGATCCCAACCT c.62-2_62-1insTGATCCCAACCT c.3169-2_3169-1insTGATCCCAACCT (n.3169-2_3169-1insTGATCCCAACCT) c.3034-2_3034-1insTGATCCCAACCT (n.3034-2_3034-1insTGATCCCAACCT) c.2023-2_2023-1insTGATCCCAACCT (n.2023-2_2023-1insTGATCCCAACCT) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAG | CA2620427597 | GNPTAB | c.3250-2_3250-1insCTATGATCCCAACCT (n.3250-2_3250-1insCTATGATCCCAACCT) n.116-2_116-1insCTATGATCCCAACCT c.62-2_62-1insCTATGATCCCAACCT c.3169-2_3169-1insCTATGATCCCAACCT (n.3169-2_3169-1insCTATGATCCCAACCT) c.3034-2_3034-1insCTATGATCCCAACCT (n.3034-2_3034-1insCTATGATCCCAACCT) c.2023-2_2023-1insCTATGATCCCAACCT (n.2023-2_2023-1insCTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGT | CA2620427586 | GNPTAB | c.3250-2_3250-1insACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insACTCAGGAATCCTACTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGG | CA2620427596 | GNPTAB | c.3250-2_3250-1insCCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insCCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insCCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insCCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insCCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insCCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insCCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insCCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insCCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insCCAACTCAGGAATCCTACTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAA | CA2620427593 | GNPTAB | c.3250-2_3250-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insTTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATAT | CA2620427592 | GNPTAB | c.3250-2_3250-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATATTATT | CA2620427591 | GNPTAB | c.3250-2_3250-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGA | CA2797209726 | GNPTAB | c.3250-2_3250-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insTCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGATATCAGCAGGAAGCATTTT | CA951172565 | GNPTAB | c.3250-2_3250-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757658_101757659insAGGTTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGATATCAGCAGGAAGCATTTTTGAGCAATT | CA607597939 | GNPTAB | c.3250-2_3250-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3250-2_3250-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) n.116-2_116-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.62-2_62-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT c.3169-2_3169-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3169-2_3169-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.3034-2_3034-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.3034-2_3034-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) c.2023-2_2023-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT (n.2023-2_2023-1insAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCAACCT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757659T>A | CA386294103 | GNPTAB | c.3250-2A>T (n.3250-2A>T) n.116-2A>T c.62-2A>T c.3169-2A>T (n.3169-2A>T) c.3034-2A>T (n.3034-2A>T) c.2023-2A>T (n.2023-2A>T) | gnomAD v4 |
| 12 | g.101757659T>C | CA10576341 | GNPTAB | c.3250-2A>G (n.3250-2A>G) n.116-2A>G c.62-2A>G c.3169-2A>G (n.3169-2A>G) c.3034-2A>G (n.3034-2A>G) c.2023-2A>G (n.2023-2A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757659T>G | CA386294105 | GNPTAB | c.3250-2A>C (n.3250-2A>C) n.116-2A>C c.62-2A>C c.3169-2A>C (n.3169-2A>C) c.3034-2A>C (n.3034-2A>C) c.2023-2A>C (n.2023-2A>C) | |
| 12 | g.101757659T= | CA2058952376 | GNPTAB | c.3250-2A= (n.3250-2A=) n.116-2A= c.62-2A= c.3169-2A= (n.3169-2A=) c.3034-2A= (n.3034-2A=) c.2023-2A= (n.2023-2A=) | |
| 12 | g.101757659_101757660insTGGGATCATAGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGATATCAGCAGGAAGCATTTTTGAGCAATTTATTAGC | CA951172569 | GNPTAB | c.3250-3_3250-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA (n.3250-3_3250-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA) n.116-3_116-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA c.62-3_62-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA c.3169-3_3169-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA (n.3169-3_3169-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA) c.3034-3_3034-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA (n.3034-3_3034-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA) c.2023-3_2023-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA (n.2023-3_2023-2insGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGATCCCA) | gnomAD v3 gnomAD v4 |
| 12 | g.101757660A>G | CA2620427606 | GNPTAB | c.3250-3T>C (n.3250-3T>C) n.116-3T>C c.62-3T>C c.3169-3T>C (n.3169-3T>C) c.3034-3T>C (n.3034-3T>C) c.2023-3T>C (n.2023-3T>C) | gnomAD v4 |
| 12 | g.101757660_101757661insGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGATATCAGCAGGAAGCATTTT | CA607597940 | GNPTAB | c.3250-4_3250-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3250-4_3250-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) n.116-4_116-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC c.62-4_62-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC c.3169-4_3169-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3169-4_3169-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) c.3034-4_3034-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3034-4_3034-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) c.2023-4_2023-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.2023-4_2023-3insAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101757660_101757661insGTAGGATTCCTGAGTTGGTGGAATATTATTTAGCTGCGTGATATCAGCAGGAAGCATTTTTGAGCAATTTATTAGCATG | CA951172574 | GNPTAB | c.3250-4_3250-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3250-4_3250-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) n.116-4_116-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC c.62-4_62-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC c.3169-4_3169-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3169-4_3169-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) c.3034-4_3034-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.3034-4_3034-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) c.2023-4_2023-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC (n.2023-4_2023-3insCATGCTAATAAATTGCTCAAAAATGCTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTAC) | gnomAD v3 gnomAD v4 |
| 12 | g.101757661T>A | CA682780346 | GNPTAB | c.3250-4A>T (n.3250-4A>T) n.116-4A>T c.62-4A>T c.3169-4A>T (n.3169-4A>T) c.3034-4A>T (n.3034-4A>T) c.2023-4A>T (n.2023-4A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101757661T>C | CA607597941 | GNPTAB | c.3250-4A>G (n.3250-4A>G) n.116-4A>G c.62-4A>G c.3169-4A>G (n.3169-4A>G) c.3034-4A>G (n.3034-4A>G) c.2023-4A>G (n.2023-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101757661T= | CA2058952377 | GNPTAB | c.3250-4A= (n.3250-4A=) n.116-4A= c.62-4A= c.3169-4A= (n.3169-4A=) c.3034-4A= (n.3034-4A=) c.2023-4A= (n.2023-4A=) | |
| 12 | g.101757662G>A | CA242451258 | GNPTAB | c.3250-5C>T (n.3250-5C>T) n.116-5C>T c.62-5C>T c.3169-5C>T (n.3169-5C>T) c.3034-5C>T (n.3034-5C>T) c.2023-5C>T (n.2023-5C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757662G>C | CA2797209728 | GNPTAB | c.3250-5C>G (n.3250-5C>G) n.116-5C>G c.62-5C>G c.3169-5C>G (n.3169-5C>G) c.3034-5C>G (n.3034-5C>G) c.2023-5C>G (n.2023-5C>G) | |
| 12 | g.101757662G= | CA2058952378 | GNPTAB | c.3250-5C= (n.3250-5C=) n.116-5C= c.62-5C= c.3169-5C= (n.3169-5C=) c.3034-5C= (n.3034-5C=) c.2023-5C= (n.2023-5C=) | |
| 12 | g.101757662G>T | CA2620427621 | GNPTAB | c.3250-5C>A (n.3250-5C>A) n.116-5C>A c.62-5C>A c.3169-5C>A (n.3169-5C>A) c.3034-5C>A (n.3034-5C>A) c.2023-5C>A (n.2023-5C>A) | gnomAD v4 |
| 12 | g.101757663A>G | CA2620427627 | GNPTAB | c.3250-6T>C (n.3250-6T>C) n.116-6T>C c.62-6T>C c.3169-6T>C (n.3169-6T>C) c.3034-6T>C (n.3034-6T>C) c.2023-6T>C (n.2023-6T>C) | gnomAD v4 |
| 12 | g.101757664G>A | CA2620427628 | GNPTAB | c.3250-7C>T (n.3250-7C>T) n.116-7C>T c.62-7C>T c.3169-7C>T (n.3169-7C>T) c.3034-7C>T (n.3034-7C>T) c.2023-7C>T (n.2023-7C>T) | gnomAD v4 |
| 12 | g.101757664G>T | CA2620427630 | GNPTAB | c.3250-7C>A (n.3250-7C>A) n.116-7C>A c.62-7C>A c.3169-7C>A (n.3169-7C>A) c.3034-7C>A (n.3034-7C>A) c.2023-7C>A (n.2023-7C>A) | gnomAD v4 |
| 12 | g.101757665A= | CA2058952379 | GNPTAB | c.3250-8T= (n.3250-8T=) n.116-8T= c.62-8T= c.3169-8T= (n.3169-8T=) c.3034-8T= (n.3034-8T=) c.2023-8T= (n.2023-8T=) | |
| 12 | g.101757665A>C | CA2797209729 | GNPTAB | c.3250-8T>G (n.3250-8T>G) n.116-8T>G c.62-8T>G c.3169-8T>G (n.3169-8T>G) c.3034-8T>G (n.3034-8T>G) c.2023-8T>G (n.2023-8T>G) | |
| 12 | g.101757665A>G | CA1139662824 | GNPTAB | c.3250-8T>C (n.3250-8T>C) n.116-8T>C c.62-8T>C c.3169-8T>C (n.3169-8T>C) c.3034-8T>C (n.3034-8T>C) c.2023-8T>C (n.2023-8T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101757668del | CA2575264940 | GNPTAB | c.3250-8del (n.3250-8del) n.116-8del c.62-8del c.3169-8del (n.3169-8del) c.3034-8del (n.3034-8del) c.2023-8del (n.2023-8del) | |
| 12 | g.101757666A>G | CA2620427641 | GNPTAB | c.3250-9T>C (n.3250-9T>C) n.116-9T>C c.62-9T>C c.3169-9T>C (n.3169-9T>C) c.3034-9T>C (n.3034-9T>C) c.2023-9T>C (n.2023-9T>C) | gnomAD v4 |
| 12 | g.101757667A>C | CA2499221382 | GNPTAB | c.3250-10T>G (n.3250-10T>G) n.116-10T>G c.62-10T>G c.3169-10T>G (n.3169-10T>G) c.3034-10T>G (n.3034-10T>G) c.2023-10T>G (n.2023-10T>G) | ClinVar dbSNP |
| 12 | g.101757667A>G | CA2620427644 | GNPTAB | c.3250-10T>C (n.3250-10T>C) n.116-10T>C c.62-10T>C c.3169-10T>C (n.3169-10T>C) c.3034-10T>C (n.3034-10T>C) c.2023-10T>C (n.2023-10T>C) | gnomAD v4 |
| 12 | g.101757669_101757673del | CA2620427643 | GNPTAB | c.3250-14_3250-10del (n.3250-14_3250-10del) n.116-14_116-10del c.62-14_62-10del c.3169-14_3169-10del (n.3169-14_3169-10del) c.3034-14_3034-10del (n.3034-14_3034-10del) c.2023-14_2023-10del (n.2023-14_2023-10del) | gnomAD v4 |
| 12 | g.101757668A>G | CA2620427647 | GNPTAB | c.3250-11T>C (n.3250-11T>C) n.116-11T>C c.62-11T>C c.3169-11T>C (n.3169-11T>C) c.3034-11T>C (n.3034-11T>C) c.2023-11T>C (n.2023-11T>C) | gnomAD v4 |
| 12 | g.101757669T>C | CA6746213 | GNPTAB | c.3250-12A>G (n.3250-12A>G) n.116-12A>G c.62-12A>G c.3169-12A>G (n.3169-12A>G) c.3034-12A>G (n.3034-12A>G) c.2023-12A>G (n.2023-12A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.101757669T= | CA2058952380 | GNPTAB | c.3250-12A= (n.3250-12A=) n.116-12A= c.62-12A= c.3169-12A= (n.3169-12A=) c.3034-12A= (n.3034-12A=) c.2023-12A= (n.2023-12A=) | |
| 12 | g.101757670A= | CA2058952381 | GNPTAB | c.3250-13T= (n.3250-13T=) n.116-13T= c.62-13T= c.3169-13T= (n.3169-13T=) c.3034-13T= (n.3034-13T=) c.2023-13T= (n.2023-13T=) | |
| 12 | g.101757670A>G | CA6746214 | GNPTAB | c.3250-13T>C (n.3250-13T>C) n.116-13T>C c.62-13T>C c.3169-13T>C (n.3169-13T>C) c.3034-13T>C (n.3034-13T>C) c.2023-13T>C (n.2023-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |