Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
3 | g.122284842_122285665del | CA2740094578 | CASR | c.2657_*474del (n.[c.2657_*474del;Lys886ThrfsTer5]) c.2918_*474del (n.[c.2918_*474del;Lys973ThrfsTer5]) c.2888_*474del (n.[c.2888_*474del;Lys963ThrfsTer5]) c.2405_*474del (n.[c.2405_*474del;Lys802ThrfsTer5]) c.2300_*474del (n.[c.2300_*474del;Lys767ThrfsTer5]) | ClinVar |
3 | g.122284899_122284973del | CA2667224801 | CASR | c.2714_2788del (p.Pro905_Thr929del) c.2975_3049del (p.Pro992_Thr1016del) c.2945_3019del (p.Pro982_Thr1006del) c.2462_2536del (p.Pro821_Thr845del) c.2357_2431del (p.Pro786_Thr810del) | gnomAD v4 |
3 | g.122284916G>A | CA82749374 | CASR | c.2731G>A (p.Ala911Thr) c.2992G>A (p.Ala998Thr) c.2962G>A (p.Ala988Thr) c.2479G>A (p.Ala827Thr) c.2374G>A (p.Ala792Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284916G>C | CA354161154 | CASR | c.2731G>C (p.Ala911Pro) c.2992G>C (p.Ala998Pro) c.2962G>C (p.Ala988Pro) c.2479G>C (p.Ala827Pro) c.2374G>C (p.Ala792Pro) | |
3 | g.122284916G= | CA1397873067 | CASR | c.2731G= (p.Ala911=) c.2992G= (p.Ala998=) c.2962G= (p.Ala988=) c.2479G= (p.Ala827=) c.2374G= (p.Ala792=) | |
3 | g.122284916G>T | CA354161155 | CASR | c.2731G>T (p.Ala911Ser) c.2992G>T (p.Ala998Ser) c.2962G>T (p.Ala988Ser) c.2479G>T (p.Ala827Ser) c.2374G>T (p.Ala792Ser) | |
3 | g.122284917C>A | CA354161156 | CASR | c.2732C>A (p.Ala911Asp) c.2993C>A (p.Ala998Asp) c.2963C>A (p.Ala988Asp) c.2480C>A (p.Ala827Asp) c.2375C>A (p.Ala792Asp) | |
3 | g.122284917C= | CA1397873068 | CASR | c.2732C= (p.Ala911=) c.2993C= (p.Ala998=) c.2963C= (p.Ala988=) c.2480C= (p.Ala827=) c.2375C= (p.Ala792=) | |
3 | g.122284917C>G | CA354161157 | CASR | c.2732C>G (p.Ala911Gly) c.2993C>G (p.Ala998Gly) c.2963C>G (p.Ala988Gly) c.2480C>G (p.Ala827Gly) c.2375C>G (p.Ala792Gly) | |
3 | g.122284917C>T | CA2569899 | CASR | c.2732C>T (p.Ala911Val) c.2993C>T (p.Ala998Val) c.2963C>T (p.Ala988Val) c.2480C>T (p.Ala827Val) c.2375C>T (p.Ala792Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284918C>A | CA435425776 | CASR | c.2733C>A (p.Ala911=) c.2994C>A (p.Ala998=) c.2964C>A (p.Ala988=) c.2481C>A (p.Ala827=) c.2376C>A (p.Ala792=) | |
3 | g.122284918C= | CA1397873070 | CASR | c.2733C= (p.Ala911=) c.2994C= (p.Ala998=) c.2964C= (p.Ala988=) c.2481C= (p.Ala827=) c.2376C= (p.Ala792=) | |
3 | g.122284918C>G | CA82749380 | CASR | c.2733C>G (p.Ala911=) c.2994C>G (p.Ala998=) c.2964C>G (p.Ala988=) c.2481C>G (p.Ala827=) c.2376C>G (p.Ala792=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284918C>T | CA435425777 | CASR | c.2733C>T (p.Ala911=) c.2994C>T (p.Ala998=) c.2964C>T (p.Ala988=) c.2481C>T (p.Ala827=) c.2376C>T (p.Ala792=) | |
3 | g.122284919C>A | CA354161158 | CASR | c.2734C>A (p.His912Asn) c.2995C>A (p.His999Asn) c.2965C>A (p.His989Asn) c.2482C>A (p.His828Asn) c.2377C>A (p.His793Asn) | dbSNP gnomAD v4 |
3 | g.122284919C= | CA1397873072 | CASR | c.2734C= (p.His912=) c.2995C= (p.His999=) c.2965C= (p.His989=) c.2482C= (p.His828=) c.2377C= (p.His793=) | |
3 | g.122284919C>G | CA354161159 | CASR | c.2734C>G (p.His912Asp) c.2995C>G (p.His999Asp) c.2965C>G (p.His989Asp) c.2482C>G (p.His828Asp) c.2377C>G (p.His793Asp) | |
3 | g.122284919C>T | CA354161160 | CASR | c.2734C>T (p.His912Tyr) c.2995C>T (p.His999Tyr) c.2965C>T (p.His989Tyr) c.2482C>T (p.His828Tyr) c.2377C>T (p.His793Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.122284920A= | CA1397873073 | CASR | c.2735A= (p.His912=) c.2996A= (p.His999=) c.2966A= (p.His989=) c.2483A= (p.His828=) c.2378A= (p.His793=) | |
3 | g.122284920A>C | CA354161161 | CASR | c.2735A>C (p.His912Pro) c.2996A>C (p.His999Pro) c.2966A>C (p.His989Pro) c.2483A>C (p.His828Pro) c.2378A>C (p.His793Pro) | |
3 | g.122284920A>G | CA354161162 | CASR | c.2735A>G (p.His912Arg) c.2996A>G (p.His999Arg) c.2966A>G (p.His989Arg) c.2483A>G (p.His828Arg) c.2378A>G (p.His793Arg) | dbSNP gnomAD v4 |
3 | g.122284920A>T | CA354161163 | CASR | c.2735A>T (p.His912Leu) c.2996A>T (p.His999Leu) c.2966A>T (p.His989Leu) c.2483A>T (p.His828Leu) c.2378A>T (p.His793Leu) | |
3 | g.122284921C>A | CA354161164 | CASR | c.2736C>A (p.His912Gln) c.2997C>A (p.His999Gln) c.2967C>A (p.His989Gln) c.2484C>A (p.His828Gln) c.2379C>A (p.His793Gln) | |
3 | g.122284921C>G | CA354161165 | CASR | c.2736C>G (p.His912Gln) c.2997C>G (p.His999Gln) c.2967C>G (p.His989Gln) c.2484C>G (p.His828Gln) c.2379C>G (p.His793Gln) | |
3 | g.122284921C>T | CA435425779 | CASR | c.2736C>T (p.His912=) c.2997C>T (p.His999=) c.2967C>T (p.His989=) c.2484C>T (p.His828=) c.2379C>T (p.His793=) | gnomAD v4 |
3 | g.122284922A= | CA1397873076 | CASR | c.2737A= (p.Arg913=) c.2998A= (p.Arg1000=) c.2968A= (p.Arg990=) c.2485A= (p.Arg829=) c.2380A= (p.Arg794=) | |
3 | g.122284922A>C | CA435425780 | CASR | c.2737A>C (p.Arg913=) c.2998A>C (p.Arg1000=) c.2968A>C (p.Arg990=) c.2485A>C (p.Arg829=) c.2380A>C (p.Arg794=) | |
3 | g.122284922A>G | CA203219 | CASR | c.2737A>G (p.Arg913Gly) c.2998A>G (p.Arg1000Gly) c.2968A>G (p.Arg990Gly) c.2485A>G (p.Arg829Gly) c.2380A>G (p.Arg794Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284922A>T | CA354161166 | CASR | c.2737A>T (p.Arg913Trp) c.2998A>T (p.Arg1000Trp) c.2968A>T (p.Arg990Trp) c.2485A>T (p.Arg829Trp) c.2380A>T (p.Arg794Trp) | |
3 | g.122284923G>A | CA354161167 | CASR | c.2738G>A (p.Arg913Lys) c.2999G>A (p.Arg1000Lys) c.2969G>A (p.Arg990Lys) c.2486G>A (p.Arg829Lys) c.2381G>A (p.Arg794Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284923G>C | CA354161168 | CASR | c.2738G>C (p.Arg913Thr) c.2999G>C (p.Arg1000Thr) c.2969G>C (p.Arg990Thr) c.2486G>C (p.Arg829Thr) c.2381G>C (p.Arg794Thr) | |
3 | g.122284923G= | CA1397873077 | CASR | c.2738G= (p.Arg913=) c.2999G= (p.Arg1000=) c.2969G= (p.Arg990=) c.2486G= (p.Arg829=) c.2381G= (p.Arg794=) | |
3 | g.122284923G>T | CA354161169 | CASR | c.2738G>T (p.Arg913Met) c.2999G>T (p.Arg1000Met) c.2969G>T (p.Arg990Met) c.2486G>T (p.Arg829Met) c.2381G>T (p.Arg794Met) | |
3 | g.122284924G>A | CA2569900 | CASR | c.2739G>A (p.Arg913=) c.3000G>A (p.Arg1000=) c.2970G>A (p.Arg990=) c.2487G>A (p.Arg829=) c.2382G>A (p.Arg794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284924G>C | CA354161170 | CASR | c.2739G>C (p.Arg913Ser) c.3000G>C (p.Arg1000Ser) c.2970G>C (p.Arg990Ser) c.2487G>C (p.Arg829Ser) c.2382G>C (p.Arg794Ser) | |
3 | g.122284924G= | CA1397873079 | CASR | c.2739G= (p.Arg913=) c.3000G= (p.Arg1000=) c.2970G= (p.Arg990=) c.2487G= (p.Arg829=) c.2382G= (p.Arg794=) | |
3 | g.122284924G>T | CA354161171 | CASR | c.2739G>T (p.Arg913Ser) c.3000G>T (p.Arg1000Ser) c.2970G>T (p.Arg990Ser) c.2487G>T (p.Arg829Ser) c.2382G>T (p.Arg794Ser) | |
3 | g.122284925A= | CA1397873081 | CASR | c.2740A= (p.Asn914=) c.3001A= (p.Asn1001=) c.2971A= (p.Asn991=) c.2488A= (p.Asn830=) c.2383A= (p.Asn795=) | |
3 | g.122284925A>C | CA354161172 | CASR | c.2740A>C (p.Asn914His) c.3001A>C (p.Asn1001His) c.2971A>C (p.Asn991His) c.2488A>C (p.Asn830His) c.2383A>C (p.Asn795His) | ClinVar dbSNP |
3 | g.122284925A>G | CA354161173 | CASR | c.2740A>G (p.Asn914Asp) c.3001A>G (p.Asn1001Asp) c.2971A>G (p.Asn991Asp) c.2488A>G (p.Asn830Asp) c.2383A>G (p.Asn795Asp) | |
3 | g.122284925A>T | CA354161174 | CASR | c.2740A>T (p.Asn914Tyr) c.3001A>T (p.Asn1001Tyr) c.2971A>T (p.Asn991Tyr) c.2488A>T (p.Asn830Tyr) c.2383A>T (p.Asn795Tyr) | |
3 | g.122284926A>C | CA354161176 | CASR | c.2741A>C (p.Asn914Thr) c.3002A>C (p.Asn1001Thr) c.2972A>C (p.Asn991Thr) c.2489A>C (p.Asn830Thr) c.2384A>C (p.Asn795Thr) | |
3 | g.122284926A>G | CA354161177 | CASR | c.2741A>G (p.Asn914Ser) c.3002A>G (p.Asn1001Ser) c.2972A>G (p.Asn991Ser) c.2489A>G (p.Asn830Ser) c.2384A>G (p.Asn795Ser) | COSMIC |
3 | g.122284926A>T | CA354161175 | CASR | c.2741A>T (p.Asn914Ile) c.3002A>T (p.Asn1001Ile) c.2972A>T (p.Asn991Ile) c.2489A>T (p.Asn830Ile) c.2384A>T (p.Asn795Ile) | |
3 | g.122284927T>A | CA354161179 | CASR | c.2742T>A (p.Asn914Lys) c.3003T>A (p.Asn1001Lys) c.2973T>A (p.Asn991Lys) c.2490T>A (p.Asn830Lys) c.2385T>A (p.Asn795Lys) | ClinVar |
3 | g.122284927T>C | CA435425782 | CASR | c.2742T>C (p.Asn914=) c.3003T>C (p.Asn1001=) c.2973T>C (p.Asn991=) c.2490T>C (p.Asn830=) c.2385T>C (p.Asn795=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284927T>G | CA354161178 | CASR | c.2742T>G (p.Asn914Lys) c.3003T>G (p.Asn1001Lys) c.2973T>G (p.Asn991Lys) c.2490T>G (p.Asn830Lys) c.2385T>G (p.Asn795Lys) | |
3 | g.122284927T= | CA1397873083 | CASR | c.2742T= (p.Asn914=) c.3003T= (p.Asn1001=) c.2973T= (p.Asn991=) c.2490T= (p.Asn830=) c.2385T= (p.Asn795=) | |
3 | g.122284928T>A | CA354161180 | CASR | c.2743T>A (p.Ser915Thr) c.3004T>A (p.Ser1002Thr) c.2974T>A (p.Ser992Thr) c.2491T>A (p.Ser831Thr) c.2386T>A (p.Ser796Thr) | |
3 | g.122284928T>C | CA354161181 | CASR | c.2743T>C (p.Ser915Pro) c.3004T>C (p.Ser1002Pro) c.2974T>C (p.Ser992Pro) c.2491T>C (p.Ser831Pro) c.2386T>C (p.Ser796Pro) | |
3 | g.122284928T>G | CA354161182 | CASR | c.2743T>G (p.Ser915Ala) c.3004T>G (p.Ser1002Ala) c.2974T>G (p.Ser992Ala) c.2491T>G (p.Ser831Ala) c.2386T>G (p.Ser796Ala) | |
3 | g.122284929C>A | CA354161183 | CASR | c.2744C>A (p.Ser915Tyr) c.3005C>A (p.Ser1002Tyr) c.2975C>A (p.Ser992Tyr) c.2492C>A (p.Ser831Tyr) c.2387C>A (p.Ser796Tyr) | gnomAD v4 |
3 | g.122284929C>G | CA354161184 | CASR | c.2744C>G (p.Ser915Cys) c.3005C>G (p.Ser1002Cys) c.2975C>G (p.Ser992Cys) c.2492C>G (p.Ser831Cys) c.2387C>G (p.Ser796Cys) | |
3 | g.122284929C>T | CA354161185 | CASR | c.2744C>T (p.Ser915Phe) c.3005C>T (p.Ser1002Phe) c.2975C>T (p.Ser992Phe) c.2492C>T (p.Ser831Phe) c.2387C>T (p.Ser796Phe) | |
3 | g.122284930T>A | CA435425786 | CASR | c.2745T>A (p.Ser915=) c.3006T>A (p.Ser1002=) c.2976T>A (p.Ser992=) c.2493T>A (p.Ser831=) c.2388T>A (p.Ser796=) | |
3 | g.122284930T>C | CA435425787 | CASR | c.2745T>C (p.Ser915=) c.3006T>C (p.Ser1002=) c.2976T>C (p.Ser992=) c.2493T>C (p.Ser831=) c.2388T>C (p.Ser796=) | ClinVar dbSNP |
3 | g.122284930T>G | CA435425789 | CASR | c.2745T>G (p.Ser915=) c.3006T>G (p.Ser1002=) c.2976T>G (p.Ser992=) c.2493T>G (p.Ser831=) c.2388T>G (p.Ser796=) | |
3 | g.122284931A>C | CA354161186 | CASR | c.2746A>C (p.Thr916Pro) c.3007A>C (p.Thr1003Pro) c.2977A>C (p.Thr993Pro) c.2494A>C (p.Thr832Pro) c.2389A>C (p.Thr797Pro) | |
3 | g.122284931A>G | CA354161187 | CASR | c.2746A>G (p.Thr916Ala) c.3007A>G (p.Thr1003Ala) c.2977A>G (p.Thr993Ala) c.2494A>G (p.Thr832Ala) c.2389A>G (p.Thr797Ala) | |
3 | g.122284931A>T | CA354161188 | CASR | c.2746A>T (p.Thr916Ser) c.3007A>T (p.Thr1003Ser) c.2977A>T (p.Thr993Ser) c.2494A>T (p.Thr832Ser) c.2389A>T (p.Thr797Ser) | gnomAD v4 |
3 | g.122284932C>A | CA354161189 | CASR | c.2747C>A (p.Thr916Lys) c.3008C>A (p.Thr1003Lys) c.2978C>A (p.Thr993Lys) c.2495C>A (p.Thr832Lys) c.2390C>A (p.Thr797Lys) | |
3 | g.122284932C= | CA1397873085 | CASR | c.2747C= (p.Thr916=) c.3008C= (p.Thr1003=) c.2978C= (p.Thr993=) c.2495C= (p.Thr832=) c.2390C= (p.Thr797=) | |
3 | g.122284932C>G | CA354161190 | CASR | c.2747C>G (p.Thr916Arg) c.3008C>G (p.Thr1003Arg) c.2978C>G (p.Thr993Arg) c.2495C>G (p.Thr832Arg) c.2390C>G (p.Thr797Arg) | |
3 | g.122284932C>T | CA2569901 | CASR | c.2747C>T (p.Thr916Met) c.3008C>T (p.Thr1003Met) c.2978C>T (p.Thr993Met) c.2495C>T (p.Thr832Met) c.2390C>T (p.Thr797Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284933G>A | CA82749391 | CASR | c.2748G>A (p.Thr916=) c.3009G>A (p.Thr1003=) c.2979G>A (p.Thr993=) c.2496G>A (p.Thr832=) c.2391G>A (p.Thr797=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284933G>C | CA435425497 | CASR | c.2748G>C (p.Thr916=) c.3009G>C (p.Thr1003=) c.2979G>C (p.Thr993=) c.2496G>C (p.Thr832=) c.2391G>C (p.Thr797=) | ClinVar |
3 | g.122284933G= | CA1397873088 | CASR | c.2748G= (p.Thr916=) c.3009G= (p.Thr1003=) c.2979G= (p.Thr993=) c.2496G= (p.Thr832=) c.2391G= (p.Thr797=) | |
3 | g.122284933G>T | CA435425498 | CASR | c.2748G>T (p.Thr916=) c.3009G>T (p.Thr1003=) c.2979G>T (p.Thr993=) c.2496G>T (p.Thr832=) c.2391G>T (p.Thr797=) | gnomAD v4 COSMIC |
3 | g.122284934C>A | CA354161191 | CASR | c.2749C>A (p.His917Asn) c.3010C>A (p.His1004Asn) c.2980C>A (p.His994Asn) c.2497C>A (p.His833Asn) c.2392C>A (p.His798Asn) | |
3 | g.122284934C= | CA1397873090 | CASR | c.2749C= (p.His917=) c.3010C= (p.His1004=) c.2980C= (p.His994=) c.2497C= (p.His833=) c.2392C= (p.His798=) | |
3 | g.122284934C>G | CA354161193 | CASR | c.2749C>G (p.His917Asp) c.3010C>G (p.His1004Asp) c.2980C>G (p.His994Asp) c.2497C>G (p.His833Asp) c.2392C>G (p.His798Asp) | |
3 | g.122284934C>T | CA354161192 | CASR | c.2749C>T (p.His917Tyr) c.3010C>T (p.His1004Tyr) c.2980C>T (p.His994Tyr) c.2497C>T (p.His833Tyr) c.2392C>T (p.His798Tyr) | ClinVar dbSNP gnomAD v4 |
3 | g.122284935A>C | CA354161194 | CASR | c.2750A>C (p.His917Pro) c.3011A>C (p.His1004Pro) c.2981A>C (p.His994Pro) c.2498A>C (p.His833Pro) c.2393A>C (p.His798Pro) | ClinVar |
3 | g.122284935A>G | CA354161195 | CASR | c.2750A>G (p.His917Arg) c.3011A>G (p.His1004Arg) c.2981A>G (p.His994Arg) c.2498A>G (p.His833Arg) c.2393A>G (p.His798Arg) | |
3 | g.122284935A>T | CA354161196 | CASR | c.2750A>T (p.His917Leu) c.3011A>T (p.His1004Leu) c.2981A>T (p.His994Leu) c.2498A>T (p.His833Leu) c.2393A>T (p.His798Leu) | |
3 | g.122284936C>A | CA354161197 | CASR | c.2751C>A (p.His917Gln) c.3012C>A (p.His1004Gln) c.2982C>A (p.His994Gln) c.2499C>A (p.His833Gln) c.2394C>A (p.His798Gln) | |
3 | g.122284936C>G | CA354161198 | CASR | c.2751C>G (p.His917Gln) c.3012C>G (p.His1004Gln) c.2982C>G (p.His994Gln) c.2499C>G (p.His833Gln) c.2394C>G (p.His798Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.122284936C>T | CA435425503 | CASR | c.2751C>T (p.His917=) c.3012C>T (p.His1004=) c.2982C>T (p.His994=) c.2499C>T (p.His833=) c.2394C>T (p.His798=) | |
3 | g.122284937C>A | CA354161199 | CASR | c.2752C>A (p.Gln918Lys) c.3013C>A (p.Gln1005Lys) c.2983C>A (p.Gln995Lys) c.2500C>A (p.Gln834Lys) c.2395C>A (p.Gln799Lys) | ClinVar |
3 | g.122284937C>G | CA354161200 | CASR | c.2752C>G (p.Gln918Glu) c.3013C>G (p.Gln1005Glu) c.2983C>G (p.Gln995Glu) c.2500C>G (p.Gln834Glu) c.2395C>G (p.Gln799Glu) | |
3 | g.122284937C>T | CA354161201 | CASR | c.2752C>T (p.Gln918Ter) c.3013C>T (p.Gln1005Ter) c.2983C>T (p.Gln995Ter) c.2500C>T (p.Gln834Ter) c.2395C>T (p.Gln799Ter) | |
3 | g.122284938A>C | CA354161202 | CASR | c.2753A>C (p.Gln918Pro) c.3014A>C (p.Gln1005Pro) c.2984A>C (p.Gln995Pro) c.2501A>C (p.Gln834Pro) c.2396A>C (p.Gln799Pro) | |
3 | g.122284938A>G | CA354161203 | CASR | c.2753A>G (p.Gln918Arg) c.3014A>G (p.Gln1005Arg) c.2984A>G (p.Gln995Arg) c.2501A>G (p.Gln834Arg) c.2396A>G (p.Gln799Arg) | |
3 | g.122284938A>T | CA354161204 | CASR | c.2753A>T (p.Gln918Leu) c.3014A>T (p.Gln1005Leu) c.2984A>T (p.Gln995Leu) c.2501A>T (p.Gln834Leu) c.2396A>T (p.Gln799Leu) | |
3 | g.122284939G>A | CA435425504 | CASR | c.2754G>A (p.Gln918=) c.3015G>A (p.Gln1005=) c.2985G>A (p.Gln995=) c.2502G>A (p.Gln834=) c.2397G>A (p.Gln799=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284939G>C | CA82749393 | CASR | c.2754G>C (p.Gln918His) c.3015G>C (p.Gln1005His) c.2985G>C (p.Gln995His) c.2502G>C (p.Gln834His) c.2397G>C (p.Gln799His) | ClinVar dbSNP gnomAD v4 |
3 | g.122284939G= | CA1397873093 | CASR | c.2754G= (p.Gln918=) c.3015G= (p.Gln1005=) c.2985G= (p.Gln995=) c.2502G= (p.Gln834=) c.2397G= (p.Gln799=) | |
3 | g.122284939G>T | CA354161205 | CASR | c.2754G>T (p.Gln918His) c.3015G>T (p.Gln1005His) c.2985G>T (p.Gln995His) c.2502G>T (p.Gln834His) c.2397G>T (p.Gln799His) | |
3 | g.122284940A= | CA1397873094 | CASR | c.2755A= (p.Asn919=) c.3016A= (p.Asn1006=) c.2986A= (p.Asn996=) c.2503A= (p.Asn835=) c.2398A= (p.Asn800=) | |
3 | g.122284940A>C | CA354161206 | CASR | c.2755A>C (p.Asn919His) c.3016A>C (p.Asn1006His) c.2986A>C (p.Asn996His) c.2503A>C (p.Asn835His) c.2398A>C (p.Asn800His) | ClinVar dbSNP |
3 | g.122284940A>G | CA354161208 | CASR | c.2755A>G (p.Asn919Asp) c.3016A>G (p.Asn1006Asp) c.2986A>G (p.Asn996Asp) c.2503A>G (p.Asn835Asp) c.2398A>G (p.Asn800Asp) | |
3 | g.122284940A>T | CA354161207 | CASR | c.2755A>T (p.Asn919Tyr) c.3016A>T (p.Asn1006Tyr) c.2986A>T (p.Asn996Tyr) c.2503A>T (p.Asn835Tyr) c.2398A>T (p.Asn800Tyr) | |
3 | g.122284941A= | CA1397873096 | CASR | c.2756A= (p.Asn919=) c.3017A= (p.Asn1006=) c.2987A= (p.Asn996=) c.2504A= (p.Asn835=) c.2399A= (p.Asn800=) | |
3 | g.122284941A>C | CA2569902 | CASR | c.2756A>C (p.Asn919Thr) c.3017A>C (p.Asn1006Thr) c.2987A>C (p.Asn996Thr) c.2504A>C (p.Asn835Thr) c.2399A>C (p.Asn800Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284941A>G | CA354161209 | CASR | c.2756A>G (p.Asn919Ser) c.3017A>G (p.Asn1006Ser) c.2987A>G (p.Asn996Ser) c.2504A>G (p.Asn835Ser) c.2399A>G (p.Asn800Ser) | |
3 | g.122284941A>T | CA354161210 | CASR | c.2756A>T (p.Asn919Ile) c.3017A>T (p.Asn1006Ile) c.2987A>T (p.Asn996Ile) c.2504A>T (p.Asn835Ile) c.2399A>T (p.Asn800Ile) | |
3 | g.122284942C>A | CA354161211 | CASR | c.2757C>A (p.Asn919Lys) c.3018C>A (p.Asn1006Lys) c.2988C>A (p.Asn996Lys) c.2505C>A (p.Asn835Lys) c.2400C>A (p.Asn800Lys) | |
3 | g.122284942C>G | CA354161212 | CASR | c.2757C>G (p.Asn919Lys) c.3018C>G (p.Asn1006Lys) c.2988C>G (p.Asn996Lys) c.2505C>G (p.Asn835Lys) c.2400C>G (p.Asn800Lys) | |
3 | g.122284942C>T | CA435425507 | CASR | c.2757C>T (p.Asn919=) c.3018C>T (p.Asn1006=) c.2988C>T (p.Asn996=) c.2505C>T (p.Asn835=) c.2400C>T (p.Asn800=) | |
3 | g.122284943T>A | CA354161213 | CASR | c.2758T>A (p.Ser920Thr) c.3019T>A (p.Ser1007Thr) c.2989T>A (p.Ser997Thr) c.2506T>A (p.Ser836Thr) c.2401T>A (p.Ser801Thr) | |
3 | g.122284943T>C | CA354161214 | CASR | c.2758T>C (p.Ser920Pro) c.3019T>C (p.Ser1007Pro) c.2989T>C (p.Ser997Pro) c.2506T>C (p.Ser836Pro) c.2401T>C (p.Ser801Pro) | |
3 | g.122284943T>G | CA354161215 | CASR | c.2758T>G (p.Ser920Ala) c.3019T>G (p.Ser1007Ala) c.2989T>G (p.Ser997Ala) c.2506T>G (p.Ser836Ala) c.2401T>G (p.Ser801Ala) | |
3 | g.122284944C>A | CA354161216 | CASR | c.2759C>A (p.Ser920Tyr) c.3020C>A (p.Ser1007Tyr) c.2990C>A (p.Ser997Tyr) c.2507C>A (p.Ser836Tyr) c.2402C>A (p.Ser801Tyr) | ClinVar dbSNP |
3 | g.122284944C= | CA1397873098 | CASR | c.2759C= (p.Ser920=) c.3020C= (p.Ser1007=) c.2990C= (p.Ser997=) c.2507C= (p.Ser836=) c.2402C= (p.Ser801=) | |
3 | g.122284944C>G | CA354161217 | CASR | c.2759C>G (p.Ser920Cys) c.3020C>G (p.Ser1007Cys) c.2990C>G (p.Ser997Cys) c.2507C>G (p.Ser836Cys) c.2402C>G (p.Ser801Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284944C>T | CA354161218 | CASR | c.2759C>T (p.Ser920Phe) c.3020C>T (p.Ser1007Phe) c.2990C>T (p.Ser997Phe) c.2507C>T (p.Ser836Phe) c.2402C>T (p.Ser801Phe) | ClinVar dbSNP COSMIC |
3 | g.122284945C>A | CA435425511 | CASR | c.2760C>A (p.Ser920=) c.3021C>A (p.Ser1007=) c.2991C>A (p.Ser997=) c.2508C>A (p.Ser836=) c.2403C>A (p.Ser801=) | |
3 | g.122284945C= | CA1397873101 | CASR | c.2760C= (p.Ser920=) c.3021C= (p.Ser1007=) c.2991C= (p.Ser997=) c.2508C= (p.Ser836=) c.2403C= (p.Ser801=) | |
3 | g.122284945C>G | CA435425513 | CASR | c.2760C>G (p.Ser920=) c.3021C>G (p.Ser1007=) c.2991C>G (p.Ser997=) c.2508C>G (p.Ser836=) c.2403C>G (p.Ser801=) | ClinVar |
3 | g.122284945C>T | CA82749401 | CASR | c.2760C>T (p.Ser920=) c.3021C>T (p.Ser1007=) c.2991C>T (p.Ser997=) c.2508C>T (p.Ser836=) c.2403C>T (p.Ser801=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284946C>A | CA354161219 | CASR | c.2761C>A (p.Leu921Met) c.3022C>A (p.Leu1008Met) c.2992C>A (p.Leu998Met) c.2509C>A (p.Leu837Met) c.2404C>A (p.Leu802Met) | |
3 | g.122284946C>G | CA354161220 | CASR | c.2761C>G (p.Leu921Val) c.3022C>G (p.Leu1008Val) c.2992C>G (p.Leu998Val) c.2509C>G (p.Leu837Val) c.2404C>G (p.Leu802Val) | |
3 | g.122284946C>T | CA435425514 | CASR | c.2761C>T (p.Leu921=) c.3022C>T (p.Leu1008=) c.2992C>T (p.Leu998=) c.2509C>T (p.Leu837=) c.2404C>T (p.Leu802=) | gnomAD v4 |
3 | g.122284947T>A | CA354161221 | CASR | c.2762T>A (p.Leu921Gln) c.3023T>A (p.Leu1008Gln) c.2993T>A (p.Leu998Gln) c.2510T>A (p.Leu837Gln) c.2405T>A (p.Leu802Gln) | ClinVar |
3 | g.122284947T>C | CA354161222 | CASR | c.2762T>C (p.Leu921Pro) c.3023T>C (p.Leu1008Pro) c.2993T>C (p.Leu998Pro) c.2510T>C (p.Leu837Pro) c.2405T>C (p.Leu802Pro) | |
3 | g.122284947T>G | CA354161223 | CASR | c.2762T>G (p.Leu921Arg) c.3023T>G (p.Leu1008Arg) c.2993T>G (p.Leu998Arg) c.2510T>G (p.Leu837Arg) c.2405T>G (p.Leu802Arg) | |
3 | g.122284948G>A | CA2569903 | CASR | c.2763G>A (p.Leu921=) c.3024G>A (p.Leu1008=) c.2994G>A (p.Leu998=) c.2511G>A (p.Leu837=) c.2406G>A (p.Leu802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284948G>C | CA435425515 | CASR | c.2763G>C (p.Leu921=) c.3024G>C (p.Leu1008=) c.2994G>C (p.Leu998=) c.2511G>C (p.Leu837=) c.2406G>C (p.Leu802=) | |
3 | g.122284948G= | CA1397873103 | CASR | c.2763G= (p.Leu921=) c.3024G= (p.Leu1008=) c.2994G= (p.Leu998=) c.2511G= (p.Leu837=) c.2406G= (p.Leu802=) | |
3 | g.122284948G>T | CA435425516 | CASR | c.2763G>T (p.Leu921=) c.3024G>T (p.Leu1008=) c.2994G>T (p.Leu998=) c.2511G>T (p.Leu837=) c.2406G>T (p.Leu802=) | |
3 | g.122284949G>A | CA354161224 | CASR | c.2764G>A (p.Glu922Lys) c.3025G>A (p.Glu1009Lys) c.2995G>A (p.Glu999Lys) c.2512G>A (p.Glu838Lys) c.2407G>A (p.Glu803Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.122284949G>C | CA354161225 | CASR | c.2764G>C (p.Glu922Gln) c.3025G>C (p.Glu1009Gln) c.2995G>C (p.Glu999Gln) c.2512G>C (p.Glu838Gln) c.2407G>C (p.Glu803Gln) | |
3 | g.122284949G= | CA1397873105 | CASR | c.2764G= (p.Glu922=) c.3025G= (p.Glu1009=) c.2995G= (p.Glu999=) c.2512G= (p.Glu838=) c.2407G= (p.Glu803=) | |
3 | g.122284949G>T | CA354161226 | CASR | c.2764G>T (p.Glu922Ter) c.3025G>T (p.Glu1009Ter) c.2995G>T (p.Glu999Ter) c.2512G>T (p.Glu838Ter) c.2407G>T (p.Glu803Ter) | |
3 | g.122284950A= | CA1397873107 | CASR | c.2765A= (p.Glu922=) c.3026A= (p.Glu1009=) c.2996A= (p.Glu999=) c.2513A= (p.Glu838=) c.2408A= (p.Glu803=) | |
3 | g.122284950A>C | CA82749408 | CASR | c.2765A>C (p.Glu922Ala) c.3026A>C (p.Glu1009Ala) c.2996A>C (p.Glu999Ala) c.2513A>C (p.Glu838Ala) c.2408A>C (p.Glu803Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284950A>G | CA354161227 | CASR | c.2765A>G (p.Glu922Gly) c.3026A>G (p.Glu1009Gly) c.2996A>G (p.Glu999Gly) c.2513A>G (p.Glu838Gly) c.2408A>G (p.Glu803Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284950A>T | CA354161228 | CASR | c.2765A>T (p.Glu922Val) c.3026A>T (p.Glu1009Val) c.2996A>T (p.Glu999Val) c.2513A>T (p.Glu838Val) c.2408A>T (p.Glu803Val) | ClinVar dbSNP |
3 | g.122284951G>A | CA435425521 | CASR | c.2766G>A (p.Glu922=) c.3027G>A (p.Glu1009=) c.2997G>A (p.Glu999=) c.2514G>A (p.Glu838=) c.2409G>A (p.Glu803=) | gnomAD v4 |
3 | g.122284951G>C | CA354161229 | CASR | c.2766G>C (p.Glu922Asp) c.3027G>C (p.Glu1009Asp) c.2997G>C (p.Glu999Asp) c.2514G>C (p.Glu838Asp) c.2409G>C (p.Glu803Asp) | |
3 | g.122284951G>T | CA354161230 | CASR | c.2766G>T (p.Glu922Asp) c.3027G>T (p.Glu1009Asp) c.2997G>T (p.Glu999Asp) c.2514G>T (p.Glu838Asp) c.2409G>T (p.Glu803Asp) | |
3 | g.122284952G>A | CA354161233 | CASR | c.2767G>A (p.Ala923Thr) c.3028G>A (p.Ala1010Thr) c.2998G>A (p.Ala1000Thr) c.2515G>A (p.Ala839Thr) c.2410G>A (p.Ala804Thr) | ClinVar gnomAD v4 |
3 | g.122284952G>C | CA354161232 | CASR | c.2767G>C (p.Ala923Pro) c.3028G>C (p.Ala1010Pro) c.2998G>C (p.Ala1000Pro) c.2515G>C (p.Ala839Pro) c.2410G>C (p.Ala804Pro) | |
3 | g.122284952G>T | CA354161231 | CASR | c.2767G>T (p.Ala923Ser) c.3028G>T (p.Ala1010Ser) c.2998G>T (p.Ala1000Ser) c.2515G>T (p.Ala839Ser) c.2410G>T (p.Ala804Ser) | |
3 | g.122284953C>A | CA354161234 | CASR | c.2768C>A (p.Ala923Asp) c.3029C>A (p.Ala1010Asp) c.2999C>A (p.Ala1000Asp) c.2516C>A (p.Ala839Asp) c.2411C>A (p.Ala804Asp) | |
3 | g.122284953C>G | CA354161236 | CASR | c.2768C>G (p.Ala923Gly) c.3029C>G (p.Ala1010Gly) c.2999C>G (p.Ala1000Gly) c.2516C>G (p.Ala839Gly) c.2411C>G (p.Ala804Gly) | |
3 | g.122284953C>T | CA354161235 | CASR | c.2768C>T (p.Ala923Val) c.3029C>T (p.Ala1010Val) c.2999C>T (p.Ala1000Val) c.2516C>T (p.Ala839Val) c.2411C>T (p.Ala804Val) | ClinVar |
3 | g.122284954C>A | CA435425523 | CASR | c.2769C>A (p.Ala923=) c.3030C>A (p.Ala1010=) c.3000C>A (p.Ala1000=) c.2517C>A (p.Ala839=) c.2412C>A (p.Ala804=) | |
3 | g.122284954C>G | CA435425525 | CASR | c.2769C>G (p.Ala923=) c.3030C>G (p.Ala1010=) c.3000C>G (p.Ala1000=) c.2517C>G (p.Ala839=) c.2412C>G (p.Ala804=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284954C>T | CA435425527 | CASR | c.2769C>T (p.Ala923=) c.3030C>T (p.Ala1010=) c.3000C>T (p.Ala1000=) c.2517C>T (p.Ala839=) c.2412C>T (p.Ala804=) | |
3 | g.122284955C>A | CA2569904 | CASR | c.2770C>A (p.Gln924Lys) c.3031C>A (p.Gln1011Lys) c.3001C>A (p.Gln1001Lys) c.2518C>A (p.Gln840Lys) c.2413C>A (p.Gln805Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284955C= | CA1397873110 | CASR | c.2770C= (p.Gln924=) c.3031C= (p.Gln1011=) c.3001C= (p.Gln1001=) c.2518C= (p.Gln840=) c.2413C= (p.Gln805=) | |
3 | g.122284955C>G | CA354161238 | CASR | c.2770C>G (p.Gln924Glu) c.3031C>G (p.Gln1011Glu) c.3001C>G (p.Gln1001Glu) c.2518C>G (p.Gln840Glu) c.2413C>G (p.Gln805Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284955C>T | CA354161237 | CASR | c.2770C>T (p.Gln924Ter) c.3031C>T (p.Gln1011Ter) c.3001C>T (p.Gln1001Ter) c.2518C>T (p.Gln840Ter) c.2413C>T (p.Gln805Ter) | ClinVar |
3 | g.122284956A= | CA1397873112 | CASR | c.2771A= (p.Gln924=) c.3032A= (p.Gln1011=) c.3002A= (p.Gln1001=) c.2519A= (p.Gln840=) c.2414A= (p.Gln805=) | |
3 | g.122284956A>C | CA354161239 | CASR | c.2771A>C (p.Gln924Pro) c.3032A>C (p.Gln1011Pro) c.3002A>C (p.Gln1001Pro) c.2519A>C (p.Gln840Pro) c.2414A>C (p.Gln805Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122284956A>G | CA354161240 | CASR | c.2771A>G (p.Gln924Arg) c.3032A>G (p.Gln1011Arg) c.3002A>G (p.Gln1001Arg) c.2519A>G (p.Gln840Arg) c.2414A>G (p.Gln805Arg) | gnomAD v4 |
3 | g.122284956A>T | CA354161241 | CASR | c.2771A>T (p.Gln924Leu) c.3032A>T (p.Gln1011Leu) c.3002A>T (p.Gln1001Leu) c.2519A>T (p.Gln840Leu) c.2414A>T (p.Gln805Leu) | |
3 | g.122284957G>A | CA435425528 | CASR | c.2772G>A (p.Gln924=) c.3033G>A (p.Gln1011=) c.3003G>A (p.Gln1001=) c.2520G>A (p.Gln840=) c.2415G>A (p.Gln805=) | |
3 | g.122284957G>C | CA354161242 | CASR | c.2772G>C (p.Gln924His) c.3033G>C (p.Gln1011His) c.3003G>C (p.Gln1001His) c.2520G>C (p.Gln840His) c.2415G>C (p.Gln805His) | |
3 | g.122284957G>T | CA354161243 | CASR | c.2772G>T (p.Gln924His) c.3033G>T (p.Gln1011His) c.3003G>T (p.Gln1001His) c.2520G>T (p.Gln840His) c.2415G>T (p.Gln805His) | |
3 | g.122284958A= | CA1397873114 | CASR | c.2773A= (p.Lys925=) c.3034A= (p.Lys1012=) c.3004A= (p.Lys1002=) c.2521A= (p.Lys841=) c.2416A= (p.Lys806=) | |
3 | g.122284958A>C | CA354161244 | CASR | c.2773A>C (p.Lys925Gln) c.3034A>C (p.Lys1012Gln) c.3004A>C (p.Lys1002Gln) c.2521A>C (p.Lys841Gln) c.2416A>C (p.Lys806Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284958A>G | CA354161245 | CASR | c.2773A>G (p.Lys925Glu) c.3034A>G (p.Lys1012Glu) c.3004A>G (p.Lys1002Glu) c.2521A>G (p.Lys841Glu) c.2416A>G (p.Lys806Glu) | ClinVar dbSNP |
3 | g.122284958A>T | CA354161246 | CASR | c.2773A>T (p.Lys925Ter) c.3034A>T (p.Lys1012Ter) c.3004A>T (p.Lys1002Ter) c.2521A>T (p.Lys841Ter) c.2416A>T (p.Lys806Ter) | |
3 | g.122284959A>C | CA354161247 | CASR | c.2774A>C (p.Lys925Thr) c.3035A>C (p.Lys1012Thr) c.3005A>C (p.Lys1002Thr) c.2522A>C (p.Lys841Thr) c.2417A>C (p.Lys806Thr) | |
3 | g.122284959A>G | CA354161248 | CASR | c.2774A>G (p.Lys925Arg) c.3035A>G (p.Lys1012Arg) c.3005A>G (p.Lys1002Arg) c.2522A>G (p.Lys841Arg) c.2417A>G (p.Lys806Arg) | |
3 | g.122284959A>T | CA354161249 | CASR | c.2774A>T (p.Lys925Ile) c.3035A>T (p.Lys1012Ile) c.3005A>T (p.Lys1002Ile) c.2522A>T (p.Lys841Ile) c.2417A>T (p.Lys806Ile) | |
3 | g.122284960A>C | CA354161251 | CASR | c.2775A>C (p.Lys925Asn) c.3036A>C (p.Lys1012Asn) c.3006A>C (p.Lys1002Asn) c.2523A>C (p.Lys841Asn) c.2418A>C (p.Lys806Asn) | |
3 | g.122284960A>G | CA435425532 | CASR | c.2775A>G (p.Lys925=) c.3036A>G (p.Lys1012=) c.3006A>G (p.Lys1002=) c.2523A>G (p.Lys841=) c.2418A>G (p.Lys806=) | |
3 | g.122284960A>T | CA354161250 | CASR | c.2775A>T (p.Lys925Asn) c.3036A>T (p.Lys1012Asn) c.3006A>T (p.Lys1002Asn) c.2523A>T (p.Lys841Asn) c.2418A>T (p.Lys806Asn) | |
3 | g.122284961A>C | CA354161252 | CASR | c.2776A>C (p.Ser926Arg) c.3037A>C (p.Ser1013Arg) c.3007A>C (p.Ser1003Arg) c.2524A>C (p.Ser842Arg) c.2419A>C (p.Ser807Arg) | |
3 | g.122284961A>G | CA354161253 | CASR | c.2776A>G (p.Ser926Gly) c.3037A>G (p.Ser1013Gly) c.3007A>G (p.Ser1003Gly) c.2524A>G (p.Ser842Gly) c.2419A>G (p.Ser807Gly) | |
3 | g.122284961A>T | CA354161254 | CASR | c.2776A>T (p.Ser926Cys) c.3037A>T (p.Ser1013Cys) c.3007A>T (p.Ser1003Cys) c.2524A>T (p.Ser842Cys) c.2419A>T (p.Ser807Cys) | |
3 | g.122284962G>A | CA354161255 | CASR | c.2777G>A (p.Ser926Asn) c.3038G>A (p.Ser1013Asn) c.3008G>A (p.Ser1003Asn) c.2525G>A (p.Ser842Asn) c.2420G>A (p.Ser807Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.122284962G>C | CA354161256 | CASR | c.2777G>C (p.Ser926Thr) c.3038G>C (p.Ser1013Thr) c.3008G>C (p.Ser1003Thr) c.2525G>C (p.Ser842Thr) c.2420G>C (p.Ser807Thr) | |
3 | g.122284962G= | CA1397873117 | CASR | c.2777G= (p.Ser926=) c.3038G= (p.Ser1013=) c.3008G= (p.Ser1003=) c.2525G= (p.Ser842=) c.2420G= (p.Ser807=) | |
3 | g.122284962G>T | CA354161257 | CASR | c.2777G>T (p.Ser926Ile) c.3038G>T (p.Ser1013Ile) c.3008G>T (p.Ser1003Ile) c.2525G>T (p.Ser842Ile) c.2420G>T (p.Ser807Ile) | |
3 | g.122284963C>A | CA354161258 | CASR | c.2778C>A (p.Ser926Arg) c.3039C>A (p.Ser1013Arg) c.3009C>A (p.Ser1003Arg) c.2526C>A (p.Ser842Arg) c.2421C>A (p.Ser807Arg) | |
3 | g.122284963C>G | CA354161259 | CASR | c.2778C>G (p.Ser926Arg) c.3039C>G (p.Ser1013Arg) c.3009C>G (p.Ser1003Arg) c.2526C>G (p.Ser842Arg) c.2421C>G (p.Ser807Arg) | |
3 | g.122284963C>T | CA435425535 | CASR | c.2778C>T (p.Ser926=) c.3039C>T (p.Ser1013=) c.3009C>T (p.Ser1003=) c.2526C>T (p.Ser842=) c.2421C>T (p.Ser807=) | |
3 | g.122284963_122284964delinsCA | CA1397873119 | CASR | c.2778_2779delinsCA (p.Ser926=) c.3039_3040delinsCA (p.Ser1013=) c.3009_3010delinsCA (p.Ser1003=) c.2526_2527delinsCA (p.Ser842=) c.2421_2422delinsCA (p.Ser807=) | |
3 | g.122284964del | CA645369338 | CASR | c.2779del (p.Ser927AlafsTer4) c.3040del (p.Ser1014AlafsTer4) c.3010del (p.Ser1004AlafsTer4) c.2527del (p.Ser843AlafsTer4) c.2422del (p.Ser808AlafsTer4) | ClinVar dbSNP |
3 | g.122284964A= | CA1397873121 | CASR | c.2779A= (p.Ser927=) c.3040A= (p.Ser1014=) c.3010A= (p.Ser1004=) c.2527A= (p.Ser843=) c.2422A= (p.Ser808=) | |
3 | g.122284964A>C | CA2569905 | CASR | c.2779A>C (p.Ser927Arg) c.3040A>C (p.Ser1014Arg) c.3010A>C (p.Ser1004Arg) c.2527A>C (p.Ser843Arg) c.2422A>C (p.Ser808Arg) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122284964A>G | CA354161260 | CASR | c.2779A>G (p.Ser927Gly) c.3040A>G (p.Ser1014Gly) c.3010A>G (p.Ser1004Gly) c.2527A>G (p.Ser843Gly) c.2422A>G (p.Ser808Gly) | |
3 | g.122284964A>T | CA354161261 | CASR | c.2779A>T (p.Ser927Cys) c.3040A>T (p.Ser1014Cys) c.3010A>T (p.Ser1004Cys) c.2527A>T (p.Ser843Cys) c.2422A>T (p.Ser808Cys) | ClinVar dbSNP |
3 | g.122284965G>A | CA354161263 | CASR | c.2780G>A (p.Ser927Asn) c.3041G>A (p.Ser1014Asn) c.3011G>A (p.Ser1004Asn) c.2528G>A (p.Ser843Asn) c.2423G>A (p.Ser808Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284965G>C | CA354161264 | CASR | c.2780G>C (p.Ser927Thr) c.3041G>C (p.Ser1014Thr) c.3011G>C (p.Ser1004Thr) c.2528G>C (p.Ser843Thr) c.2423G>C (p.Ser808Thr) | |
3 | g.122284965G= | CA1397873126 | CASR | c.2780G= (p.Ser927=) c.3041G= (p.Ser1014=) c.3011G= (p.Ser1004=) c.2528G= (p.Ser843=) c.2423G= (p.Ser808=) | |
3 | g.122284965G>T | CA354161262 | CASR | c.2780G>T (p.Ser927Ile) c.3041G>T (p.Ser1014Ile) c.3011G>T (p.Ser1004Ile) c.2528G>T (p.Ser843Ile) c.2423G>T (p.Ser808Ile) | |
3 | g.122284966C>A | CA354161265 | CASR | c.2781C>A (p.Ser927Arg) c.3042C>A (p.Ser1014Arg) c.3012C>A (p.Ser1004Arg) c.2529C>A (p.Ser843Arg) c.2424C>A (p.Ser808Arg) | dbSNP gnomAD v4 |
3 | g.122284966C= | CA1397873127 | CASR | c.2781C= (p.Ser927=) c.3042C= (p.Ser1014=) c.3012C= (p.Ser1004=) c.2529C= (p.Ser843=) c.2424C= (p.Ser808=) | |
3 | g.122284966C>G | CA354161266 | CASR | c.2781C>G (p.Ser927Arg) c.3042C>G (p.Ser1014Arg) c.3012C>G (p.Ser1004Arg) c.2529C>G (p.Ser843Arg) c.2424C>G (p.Ser808Arg) | |
3 | g.122284966C>T | CA435425537 | CASR | c.2781C>T (p.Ser927=) c.3042C>T (p.Ser1014=) c.3012C>T (p.Ser1004=) c.2529C>T (p.Ser843=) c.2424C>T (p.Ser808=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284967G>A | CA2569906 | CASR | c.2782G>A (p.Asp928Asn) c.3043G>A (p.Asp1015Asn) c.3013G>A (p.Asp1005Asn) c.2530G>A (p.Asp844Asn) c.2425G>A (p.Asp809Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284967G>C | CA354161267 | CASR | c.2782G>C (p.Asp928His) c.3043G>C (p.Asp1015His) c.3013G>C (p.Asp1005His) c.2530G>C (p.Asp844His) c.2425G>C (p.Asp809His) | ClinVar dbSNP gnomAD v4 |
3 | g.122284967G= | CA1397873129 | CASR | c.2782G= (p.Asp928=) c.3043G= (p.Asp1015=) c.3013G= (p.Asp1005=) c.2530G= (p.Asp844=) c.2425G= (p.Asp809=) | |
3 | g.122284967G>T | CA2569907 | CASR | c.2782G>T (p.Asp928Tyr) c.3043G>T (p.Asp1015Tyr) c.3013G>T (p.Asp1005Tyr) c.2530G>T (p.Asp844Tyr) c.2425G>T (p.Asp809Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.122284968A>C | CA354161270 | CASR | c.2783A>C (p.Asp928Ala) c.3044A>C (p.Asp1015Ala) c.3014A>C (p.Asp1005Ala) c.2531A>C (p.Asp844Ala) c.2426A>C (p.Asp809Ala) | |
3 | g.122284968A>G | CA354161268 | CASR | c.2783A>G (p.Asp928Gly) c.3044A>G (p.Asp1015Gly) c.3014A>G (p.Asp1005Gly) c.2531A>G (p.Asp844Gly) c.2426A>G (p.Asp809Gly) | |
3 | g.122284968A>T | CA354161269 | CASR | c.2783A>T (p.Asp928Val) c.3044A>T (p.Asp1015Val) c.3014A>T (p.Asp1005Val) c.2531A>T (p.Asp844Val) c.2426A>T (p.Asp809Val) | |
3 | g.122284969T>A | CA354161271 | CASR | c.2784T>A (p.Asp928Glu) c.3045T>A (p.Asp1015Glu) c.3015T>A (p.Asp1005Glu) c.2532T>A (p.Asp844Glu) c.2427T>A (p.Asp809Glu) | |
3 | g.122284969T>C | CA435425541 | CASR | c.2784T>C (p.Asp928=) c.3045T>C (p.Asp1015=) c.3015T>C (p.Asp1005=) c.2532T>C (p.Asp844=) c.2427T>C (p.Asp809=) | ClinVar |
3 | g.122284969T>G | CA354161272 | CASR | c.2784T>G (p.Asp928Glu) c.3045T>G (p.Asp1015Glu) c.3015T>G (p.Asp1005Glu) c.2532T>G (p.Asp844Glu) c.2427T>G (p.Asp809Glu) | |
3 | g.122284970A= | CA1397873132 | CASR | c.2785A= (p.Thr929=) c.3046A= (p.Thr1016=) c.3016A= (p.Thr1006=) c.2533A= (p.Thr845=) c.2428A= (p.Thr810=) | |
3 | g.122284970A>C | CA354161273 | CASR | c.2785A>C (p.Thr929Pro) c.3046A>C (p.Thr1016Pro) c.3016A>C (p.Thr1006Pro) c.2533A>C (p.Thr845Pro) c.2428A>C (p.Thr810Pro) | |
3 | g.122284970A>G | CA354161274 | CASR | c.2785A>G (p.Thr929Ala) c.3046A>G (p.Thr1016Ala) c.3016A>G (p.Thr1006Ala) c.2533A>G (p.Thr845Ala) c.2428A>G (p.Thr810Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284970A>T | CA354161275 | CASR | c.2785A>T (p.Thr929Ser) c.3046A>T (p.Thr1016Ser) c.3016A>T (p.Thr1006Ser) c.2533A>T (p.Thr845Ser) c.2428A>T (p.Thr810Ser) | dbSNP |
3 | g.122284971C>A | CA354161276 | CASR | c.2786C>A (p.Thr929Lys) c.3047C>A (p.Thr1016Lys) c.3017C>A (p.Thr1006Lys) c.2534C>A (p.Thr845Lys) c.2429C>A (p.Thr810Lys) | dbSNP gnomAD v4 |
3 | g.122284971C= | CA1397873134 | CASR | c.2786C= (p.Thr929=) c.3047C= (p.Thr1016=) c.3017C= (p.Thr1006=) c.2534C= (p.Thr845=) c.2429C= (p.Thr810=) | |
3 | g.122284971C>G | CA354161277 | CASR | c.2786C>G (p.Thr929Arg) c.3047C>G (p.Thr1016Arg) c.3017C>G (p.Thr1006Arg) c.2534C>G (p.Thr845Arg) c.2429C>G (p.Thr810Arg) | ClinVar |
3 | g.122284971C>T | CA2569908 | CASR | c.2786C>T (p.Thr929Met) c.3047C>T (p.Thr1016Met) c.3017C>T (p.Thr1006Met) c.2534C>T (p.Thr845Met) c.2429C>T (p.Thr810Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122284972G>A | CA2569909 | CASR | c.2787G>A (p.Thr929=) c.3048G>A (p.Thr1016=) c.3018G>A (p.Thr1006=) c.2535G>A (p.Thr845=) c.2430G>A (p.Thr810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284972G>C | CA435425542 | CASR | c.2787G>C (p.Thr929=) c.3048G>C (p.Thr1016=) c.3018G>C (p.Thr1006=) c.2535G>C (p.Thr845=) c.2430G>C (p.Thr810=) | dbSNP |
3 | g.122284972G= | CA1397873138 | CASR | c.2787G= (p.Thr929=) c.3048G= (p.Thr1016=) c.3018G= (p.Thr1006=) c.2535G= (p.Thr845=) c.2430G= (p.Thr810=) | |
3 | g.122284972G>T | CA435425543 | CASR | c.2787G>T (p.Thr929=) c.3048G>T (p.Thr1016=) c.3018G>T (p.Thr1006=) c.2535G>T (p.Thr845=) c.2430G>T (p.Thr810=) | ClinVar dbSNP |
3 | g.122284973C>A | CA354161278 | CASR | c.2788C>A (p.Leu930Met) c.3049C>A (p.Leu1017Met) c.3019C>A (p.Leu1007Met) c.2536C>A (p.Leu846Met) c.2431C>A (p.Leu811Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284973C= | CA1397873140 | CASR | c.2788C= (p.Leu930=) c.3049C= (p.Leu1017=) c.3019C= (p.Leu1007=) c.2536C= (p.Leu846=) c.2431C= (p.Leu811=) | |
3 | g.122284973C>G | CA354161279 | CASR | c.2788C>G (p.Leu930Val) c.3049C>G (p.Leu1017Val) c.3019C>G (p.Leu1007Val) c.2536C>G (p.Leu846Val) c.2431C>G (p.Leu811Val) | |
3 | g.122284973C>T | CA435425544 | CASR | c.2788C>T (p.Leu930=) c.3049C>T (p.Leu1017=) c.3019C>T (p.Leu1007=) c.2536C>T (p.Leu846=) c.2431C>T (p.Leu811=) | |
3 | g.122284974T>A | CA82749437 | CASR | c.2789T>A (p.Leu930Gln) c.3050T>A (p.Leu1017Gln) c.3020T>A (p.Leu1007Gln) c.2537T>A (p.Leu846Gln) c.2432T>A (p.Leu811Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284974T>C | CA354161280 | CASR | c.2789T>C (p.Leu930Pro) c.3050T>C (p.Leu1017Pro) c.3020T>C (p.Leu1007Pro) c.2537T>C (p.Leu846Pro) c.2432T>C (p.Leu811Pro) | |
3 | g.122284974T>G | CA354161281 | CASR | c.2789T>G (p.Leu930Arg) c.3050T>G (p.Leu1017Arg) c.3020T>G (p.Leu1007Arg) c.2537T>G (p.Leu846Arg) c.2432T>G (p.Leu811Arg) | |
3 | g.122284974T= | CA1397873142 | CASR | c.2789T= (p.Leu930=) c.3050T= (p.Leu1017=) c.3020T= (p.Leu1007=) c.2537T= (p.Leu846=) c.2432T= (p.Leu811=) | |
3 | g.122284975G>A | CA435425545 | CASR | c.2790G>A (p.Leu930=) c.3051G>A (p.Leu1017=) c.3021G>A (p.Leu1007=) c.2538G>A (p.Leu846=) c.2433G>A (p.Leu811=) | |
3 | g.122284975G>C | CA435425546 | CASR | c.2790G>C (p.Leu930=) c.3051G>C (p.Leu1017=) c.3021G>C (p.Leu1007=) c.2538G>C (p.Leu846=) c.2433G>C (p.Leu811=) | ClinVar |
3 | g.122284975G>T | CA435425547 | CASR | c.2790G>T (p.Leu930=) c.3051G>T (p.Leu1017=) c.3021G>T (p.Leu1007=) c.2538G>T (p.Leu846=) c.2433G>T (p.Leu811=) | ClinVar gnomAD v4 |
3 | g.122284976A= | CA1397873144 | CASR | c.2791A= (p.Thr931=) c.3052A= (p.Thr1018=) c.3022A= (p.Thr1008=) c.2539A= (p.Thr847=) c.2434A= (p.Thr812=) | |
3 | g.122284976A>C | CA2569910 | CASR | c.2791A>C (p.Thr931Pro) c.3052A>C (p.Thr1018Pro) c.3022A>C (p.Thr1008Pro) c.2539A>C (p.Thr847Pro) c.2434A>C (p.Thr812Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284976A>G | CA354161282 | CASR | c.2791A>G (p.Thr931Ala) c.3052A>G (p.Thr1018Ala) c.3022A>G (p.Thr1008Ala) c.2539A>G (p.Thr847Ala) c.2434A>G (p.Thr812Ala) | |
3 | g.122284976A>T | CA354161283 | CASR | c.2791A>T (p.Thr931Ser) c.3052A>T (p.Thr1018Ser) c.3022A>T (p.Thr1008Ser) c.2539A>T (p.Thr847Ser) c.2434A>T (p.Thr812Ser) | |
3 | g.122284977C>A | CA354161284 | CASR | c.2792C>A (p.Thr931Asn) c.3053C>A (p.Thr1018Asn) c.3023C>A (p.Thr1008Asn) c.2540C>A (p.Thr847Asn) c.2435C>A (p.Thr812Asn) | |
3 | g.122284977C>G | CA354161285 | CASR | c.2792C>G (p.Thr931Ser) c.3053C>G (p.Thr1018Ser) c.3023C>G (p.Thr1008Ser) c.2540C>G (p.Thr847Ser) c.2435C>G (p.Thr812Ser) | dbSNP |
3 | g.122284977C>T | CA354161286 | CASR | c.2792C>T (p.Thr931Ile) c.3053C>T (p.Thr1018Ile) c.3023C>T (p.Thr1008Ile) c.2540C>T (p.Thr847Ile) c.2435C>T (p.Thr812Ile) | |
3 | g.122284978C>A | CA435425549 | CASR | c.2793C>A (p.Thr931=) c.3054C>A (p.Thr1018=) c.3024C>A (p.Thr1008=) c.2541C>A (p.Thr847=) c.2436C>A (p.Thr812=) | |
3 | g.122284978C= | CA1397873146 | CASR | c.2793C= (p.Thr931=) c.3054C= (p.Thr1018=) c.3024C= (p.Thr1008=) c.2541C= (p.Thr847=) c.2436C= (p.Thr812=) | |
3 | g.122284978C>G | CA435425548 | CASR | c.2793C>G (p.Thr931=) c.3054C>G (p.Thr1018=) c.3024C>G (p.Thr1008=) c.2541C>G (p.Thr847=) c.2436C>G (p.Thr812=) | |
3 | g.122284978C>T | CA2569911 | CASR | c.2793C>T (p.Thr931=) c.3054C>T (p.Thr1018=) c.3024C>T (p.Thr1008=) c.2541C>T (p.Thr847=) c.2436C>T (p.Thr812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284979C>A | CA435425550 | CASR | c.2794C>A (p.Arg932=) c.3055C>A (p.Arg1019=) c.3025C>A (p.Arg1009=) c.2542C>A (p.Arg848=) c.2437C>A (p.Arg813=) | |
3 | g.122284979C= | CA1397873149 | CASR | c.2794C= (p.Arg932=) c.3055C= (p.Arg1019=) c.3025C= (p.Arg1009=) c.2542C= (p.Arg848=) c.2437C= (p.Arg813=) | |
3 | g.122284979C>G | CA354161288 | CASR | c.2794C>G (p.Arg932Gly) c.3055C>G (p.Arg1019Gly) c.3025C>G (p.Arg1009Gly) c.2542C>G (p.Arg848Gly) c.2437C>G (p.Arg813Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284979C>T | CA354161287 | CASR | c.2794C>T (p.Arg932Ter) c.3055C>T (p.Arg1019Ter) c.3025C>T (p.Arg1009Ter) c.2542C>T (p.Arg848Ter) c.2437C>T (p.Arg813Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284979_122284985delinsCGACACG | CA1397873148 | CASR | c.2794_2800delinsCGACACG (p.Arg932=) c.3055_3061delinsCGACACG (p.Arg1019=) c.3025_3031delinsCGACACG (p.Arg1009=) c.2542_2548delinsCGACACG (p.Arg848=) c.2437_2443delinsCGACACG (p.Arg813=) | |
3 | g.122284980G>A | CA2569912 | CASR | c.2795G>A (p.Arg932Gln) c.3056G>A (p.Arg1019Gln) c.3026G>A (p.Arg1009Gln) c.2543G>A (p.Arg848Gln) c.2438G>A (p.Arg813Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284980G>C | CA354161289 | CASR | c.2795G>C (p.Arg932Pro) c.3056G>C (p.Arg1019Pro) c.3026G>C (p.Arg1009Pro) c.2543G>C (p.Arg848Pro) c.2438G>C (p.Arg813Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284980G= | CA1397873151 | CASR | c.2795G= (p.Arg932=) c.3056G= (p.Arg1019=) c.3026G= (p.Arg1009=) c.2543G= (p.Arg848=) c.2438G= (p.Arg813=) | |
3 | g.122284980G>T | CA2569913 | CASR | c.2795G>T (p.Arg932Leu) c.3056G>T (p.Arg1019Leu) c.3026G>T (p.Arg1009Leu) c.2543G>T (p.Arg848Leu) c.2438G>T (p.Arg813Leu) | dbSNP ExAC gnomAD v4 |
3 | g.122284980_122284985del | CA82749451 | CASR | c.2795_2800del (p.Arg932_Glu934delinsGln) c.3056_3061del (p.Arg1019_Glu1021delinsGln) c.3026_3031del (p.Arg1009_Glu1011delinsGln) c.2543_2548del (p.Arg848_Glu850delinsGln) c.2438_2443del (p.Arg813_Glu815delinsGln) | dbSNP |
3 | g.122284981A= | CA1397873153 | CASR | c.2796A= (p.Arg932=) c.3057A= (p.Arg1019=) c.3027A= (p.Arg1009=) c.2544A= (p.Arg848=) c.2439A= (p.Arg813=) | |
3 | g.122284981A>C | CA82749458 | CASR | c.2796A>C (p.Arg932=) c.3057A>C (p.Arg1019=) c.3027A>C (p.Arg1009=) c.2544A>C (p.Arg848=) c.2439A>C (p.Arg813=) | dbSNP |
3 | g.122284981A>G | CA435425551 | CASR | c.2796A>G (p.Arg932=) c.3057A>G (p.Arg1019=) c.3027A>G (p.Arg1009=) c.2544A>G (p.Arg848=) c.2439A>G (p.Arg813=) | |
3 | g.122284981A>T | CA435425552 | CASR | c.2796A>T (p.Arg932=) c.3057A>T (p.Arg1019=) c.3027A>T (p.Arg1009=) c.2544A>T (p.Arg848=) c.2439A>T (p.Arg813=) | |
3 | g.122284981_122284986del | CA354161290 | CASR | c.2796_2801del (p.His933_Glu934del) c.3057_3062del (p.His1020_Glu1021del) c.3027_3032del (p.His1010_Glu1011del) c.2544_2549del (p.His849_Glu850del) c.2439_2444del (p.His814_Glu815del) | |
3 | g.122284982C>A | CA354161291 | CASR | c.2797C>A (p.His933Asn) c.3058C>A (p.His1020Asn) c.3028C>A (p.His1010Asn) c.2545C>A (p.His849Asn) c.2440C>A (p.His814Asn) | |
3 | g.122284982C= | CA1397873155 | CASR | c.2797C= (p.His933=) c.3058C= (p.His1020=) c.3028C= (p.His1010=) c.2545C= (p.His849=) c.2440C= (p.His814=) | |
3 | g.122284982C>G | CA354161292 | CASR | c.2797C>G (p.His933Asp) c.3058C>G (p.His1020Asp) c.3028C>G (p.His1010Asp) c.2545C>G (p.His849Asp) c.2440C>G (p.His814Asp) | |
3 | g.122284982C>T | CA2569914 | CASR | c.2797C>T (p.His933Tyr) c.3058C>T (p.His1020Tyr) c.3028C>T (p.His1010Tyr) c.2545C>T (p.His849Tyr) c.2440C>T (p.His814Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284983A= | CA1397873156 | CASR | c.2798A= (p.His933=) c.3059A= (p.His1020=) c.3029A= (p.His1010=) c.2546A= (p.His849=) c.2441A= (p.His814=) | |
3 | g.122284983A>C | CA2569915 | CASR | c.2798A>C (p.His933Pro) c.3059A>C (p.His1020Pro) c.3029A>C (p.His1010Pro) c.2546A>C (p.His849Pro) c.2441A>C (p.His814Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284983A>G | CA354161293 | CASR | c.2798A>G (p.His933Arg) c.3059A>G (p.His1020Arg) c.3029A>G (p.His1010Arg) c.2546A>G (p.His849Arg) c.2441A>G (p.His814Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284983A>T | CA354161294 | CASR | c.2798A>T (p.His933Leu) c.3059A>T (p.His1020Leu) c.3029A>T (p.His1010Leu) c.2546A>T (p.His849Leu) c.2441A>T (p.His814Leu) | |
3 | g.122284983dup | CA2667224936 | CASR | c.2798dup (p.His933GlnfsTer?) c.3059dup (p.His1020GlnfsTer?) c.3029dup (p.His1010GlnfsTer?) c.2546dup (p.His849GlnfsTer?) c.2441dup (p.His814GlnfsTer?) | gnomAD v4 |
3 | g.122284984C>A | CA354161295 | CASR | c.2799C>A (p.His933Gln) c.3060C>A (p.His1020Gln) c.3030C>A (p.His1010Gln) c.2547C>A (p.His849Gln) c.2442C>A (p.His814Gln) | |
3 | g.122284984C= | CA1397873160 | CASR | c.2799C= (p.His933=) c.3060C= (p.His1020=) c.3030C= (p.His1010=) c.2547C= (p.His849=) c.2442C= (p.His814=) | |
3 | g.122284984C>G | CA2569916 | CASR | c.2799C>G (p.His933Gln) c.3060C>G (p.His1020Gln) c.3030C>G (p.His1010Gln) c.2547C>G (p.His849Gln) c.2442C>G (p.His814Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284984C>T | CA2569917 | CASR | c.2799C>T (p.His933=) c.3060C>T (p.His1020=) c.3030C>T (p.His1010=) c.2547C>T (p.His849=) c.2442C>T (p.His814=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284984_122284985delinsAC | CA2573136468 | CASR | c.2799_2800delinsAC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsAC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsAC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsAC (p.His814_Glu815delinsGlnGln) | ClinVar dbSNP |
3 | g.122284984_122284985delinsCG | CA1397873159 | CASR | c.2799_2800delinsCG (p.His933=) c.3060_3061delinsCG (p.His1020=) c.3030_3031delinsCG (p.His1010=) c.2547_2548delinsCG (p.His849=) c.2442_2443delinsCG (p.His814=) | |
3 | g.122284984_122284985delinsGC | CA82749469 | CASR | c.2799_2800delinsGC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsGC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsGC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsGC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsGC (p.His814_Glu815delinsGlnGln) | dbSNP |
3 | g.122284985G>A | CA354161296 | CASR | c.2800G>A (p.Glu934Lys) c.3061G>A (p.Glu1021Lys) c.3031G>A (p.Glu1011Lys) c.2548G>A (p.Glu850Lys) c.2443G>A (p.Glu815Lys) | dbSNP |
3 | g.122284985G>C | CA179846 | CASR | c.2800G>C (p.Glu934Gln) c.3061G>C (p.Glu1021Gln) c.3031G>C (p.Glu1011Gln) c.2548G>C (p.Glu850Gln) c.2443G>C (p.Glu815Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284985G= | CA10582124 | CASR | c.2800G= (p.Glu934=) c.3061G= (p.Glu1021=) c.3031G= (p.Glu1011=) c.2548G= (p.Glu850=) c.2443G= (p.Glu815=) | |
3 | g.122284985G>T | CA354161297 | CASR | c.2800G>T (p.Glu934Ter) c.3061G>T (p.Glu1021Ter) c.3031G>T (p.Glu1011Ter) c.2548G>T (p.Glu850Ter) c.2443G>T (p.Glu815Ter) | |
3 | g.122284985_122284986insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC | CA1052945246 | CASR | c.2800_2801insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu934AlafsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1021AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1011AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1011ProfsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1021ProfsTer14) c.2548_2549insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu850AlafsTer14) c.2443_2444insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu815AlafsTer14) | gnomAD v3 gnomAD v4 |
3 | g.122284986A>C | CA354161298 | CASR | c.2801A>C (p.Glu934Ala) c.3062A>C (p.Glu1021Ala) c.3032A>C (p.Glu1011Ala) c.3032A>C (p.Gln1011Pro) c.3062A>C (p.Gln1021Pro) c.2549A>C (p.Glu850Ala) c.2444A>C (p.Glu815Ala) | |
3 | g.122284986A>G | CA354161299 | CASR | c.2801A>G (p.Glu934Gly) c.3062A>G (p.Glu1021Gly) c.3032A>G (p.Glu1011Gly) c.3032A>G (p.Gln1011Arg) c.3062A>G (p.Gln1021Arg) c.2549A>G (p.Glu850Gly) c.2444A>G (p.Glu815Gly) | |
3 | g.122284986A>T | CA354161300 | CASR | c.2801A>T (p.Glu934Val) c.3062A>T (p.Glu1021Val) c.3032A>T (p.Glu1011Val) c.3032A>T (p.Gln1011Leu) c.3062A>T (p.Gln1021Leu) c.2549A>T (p.Glu850Val) c.2444A>T (p.Glu815Val) | |
3 | g.122284987G>A | CA435425553 | CASR | c.2802G>A (p.Glu934=) c.3063G>A (p.Glu1021=) c.3033G>A (p.Glu1011=) c.3033G>A (p.Gln1011=) c.3063G>A (p.Gln1021=) c.2550G>A (p.Glu850=) c.2445G>A (p.Glu815=) | ClinVar |
3 | g.122284987G>C | CA354161301 | CASR | c.2802G>C (p.Glu934Asp) c.3063G>C (p.Glu1021Asp) c.3033G>C (p.Glu1011Asp) c.3033G>C (p.Gln1011His) c.3063G>C (p.Gln1021His) c.2550G>C (p.Glu850Asp) c.2445G>C (p.Glu815Asp) | |
3 | g.122284987G>T | CA354161302 | CASR | c.2802G>T (p.Glu934Asp) c.3063G>T (p.Glu1021Asp) c.3033G>T (p.Glu1011Asp) c.3033G>T (p.Gln1011His) c.3063G>T (p.Gln1021His) c.2550G>T (p.Glu850Asp) c.2445G>T (p.Glu815Asp) | |
3 | g.122284988C>A | CA2569918 | CASR | c.2803C>A (p.Pro935Thr) c.3064C>A (p.Pro1022Thr) c.3034C>A (p.Pro1012Thr) c.2551C>A (p.Pro851Thr) c.2446C>A (p.Pro816Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284988C= | CA1397873163 | CASR | c.2803C= (p.Pro935=) c.3064C= (p.Pro1022=) c.3034C= (p.Pro1012=) c.2551C= (p.Pro851=) c.2446C= (p.Pro816=) | |
3 | g.122284988C>G | CA354161303 | CASR | c.2803C>G (p.Pro935Ala) c.3064C>G (p.Pro1022Ala) c.3034C>G (p.Pro1012Ala) c.2551C>G (p.Pro851Ala) c.2446C>G (p.Pro816Ala) | ClinVar |
3 | g.122284988C>T | CA354161304 | CASR | c.2803C>T (p.Pro935Ser) c.3064C>T (p.Pro1022Ser) c.3034C>T (p.Pro1012Ser) c.2551C>T (p.Pro851Ser) c.2446C>T (p.Pro816Ser) | |
3 | g.122284989C>A | CA354161306 | CASR | c.2804C>A (p.Pro935Gln) c.3065C>A (p.Pro1022Gln) c.3035C>A (p.Pro1012Gln) c.2552C>A (p.Pro851Gln) c.2447C>A (p.Pro816Gln) | ClinVar dbSNP |
3 | g.122284989C= | CA1397873165 | CASR | c.2804C= (p.Pro935=) c.3065C= (p.Pro1022=) c.3035C= (p.Pro1012=) c.2552C= (p.Pro851=) c.2447C= (p.Pro816=) | |
3 | g.122284989C>G | CA354161307 | CASR | c.2804C>G (p.Pro935Arg) c.3065C>G (p.Pro1022Arg) c.3035C>G (p.Pro1012Arg) c.2552C>G (p.Pro851Arg) c.2447C>G (p.Pro816Arg) | |
3 | g.122284989C>T | CA354161305 | CASR | c.2804C>T (p.Pro935Leu) c.3065C>T (p.Pro1022Leu) c.3035C>T (p.Pro1012Leu) c.2552C>T (p.Pro851Leu) c.2447C>T (p.Pro816Leu) | |
3 | g.122284990A= | CA1397873167 | CASR | c.2805A= (p.Pro935=) c.3066A= (p.Pro1022=) c.3036A= (p.Pro1012=) c.2553A= (p.Pro851=) c.2448A= (p.Pro816=) | |
3 | g.122284990A>C | CA435425554 | CASR | c.2805A>C (p.Pro935=) c.3066A>C (p.Pro1022=) c.3036A>C (p.Pro1012=) c.2553A>C (p.Pro851=) c.2448A>C (p.Pro816=) | |
3 | g.122284990A>G | CA435425555 | CASR | c.2805A>G (p.Pro935=) c.3066A>G (p.Pro1022=) c.3036A>G (p.Pro1012=) c.2553A>G (p.Pro851=) c.2448A>G (p.Pro816=) | ClinVar dbSNP gnomAD v2 |
3 | g.122284990A>T | CA435425556 | CASR | c.2805A>T (p.Pro935=) c.3066A>T (p.Pro1022=) c.3036A>T (p.Pro1012=) c.2553A>T (p.Pro851=) c.2448A>T (p.Pro816=) | |
3 | g.122284991T>A | CA354161308 | CASR | c.2806T>A (p.Leu936Ile) c.3067T>A (p.Leu1023Ile) c.3037T>A (p.Leu1013Ile) c.2554T>A (p.Leu852Ile) c.2449T>A (p.Leu817Ile) | |
3 | g.122284991T>C | CA435425557 | CASR | c.2806T>C (p.Leu936=) c.3067T>C (p.Leu1023=) c.3037T>C (p.Leu1013=) c.2554T>C (p.Leu852=) c.2449T>C (p.Leu817=) | |
3 | g.122284991T>G | CA354161309 | CASR | c.2806T>G (p.Leu936Val) c.3067T>G (p.Leu1023Val) c.3037T>G (p.Leu1013Val) c.2554T>G (p.Leu852Val) c.2449T>G (p.Leu817Val) | |
3 | g.122284992T>A | CA354161310 | CASR | c.2807T>A (p.Leu936Ter) c.3068T>A (p.Leu1023Ter) c.3038T>A (p.Leu1013Ter) c.2555T>A (p.Leu852Ter) c.2450T>A (p.Leu817Ter) | |
3 | g.122284992T>C | CA2569919 | CASR | c.2807T>C (p.Leu936Ser) c.3068T>C (p.Leu1023Ser) c.3038T>C (p.Leu1013Ser) c.2555T>C (p.Leu852Ser) c.2450T>C (p.Leu817Ser) | dbSNP ExAC gnomAD v2 |
3 | g.122284992T>G | CA354161311 | CASR | c.2807T>G (p.Leu936Ter) c.3068T>G (p.Leu1023Ter) c.3038T>G (p.Leu1013Ter) c.2555T>G (p.Leu852Ter) c.2450T>G (p.Leu817Ter) | |
3 | g.122284992T= | CA1397873168 | CASR | c.2807T= (p.Leu936=) c.3068T= (p.Leu1023=) c.3038T= (p.Leu1013=) c.2555T= (p.Leu852=) c.2450T= (p.Leu817=) | |
3 | g.122284993A>C | CA354161312 | CASR | c.2808A>C (p.Leu936Phe) c.3069A>C (p.Leu1023Phe) c.3039A>C (p.Leu1013Phe) c.2556A>C (p.Leu852Phe) c.2451A>C (p.Leu817Phe) | |
3 | g.122284993A>G | CA435425558 | CASR | c.2808A>G (p.Leu936=) c.3069A>G (p.Leu1023=) c.3039A>G (p.Leu1013=) c.2556A>G (p.Leu852=) c.2451A>G (p.Leu817=) | |
3 | g.122284993A>T | CA354161313 | CASR | c.2808A>T (p.Leu936Phe) c.3069A>T (p.Leu1023Phe) c.3039A>T (p.Leu1013Phe) c.2556A>T (p.Leu852Phe) c.2451A>T (p.Leu817Phe) | |
3 | g.122284994C>A | CA2569920 | CASR | c.2809C>A (p.Leu937Ile) c.3070C>A (p.Leu1024Ile) c.3040C>A (p.Leu1014Ile) c.2557C>A (p.Leu853Ile) c.2452C>A (p.Leu818Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284994C= | CA1397873170 | CASR | c.2809C= (p.Leu937=) c.3070C= (p.Leu1024=) c.3040C= (p.Leu1014=) c.2557C= (p.Leu853=) c.2452C= (p.Leu818=) | |
3 | g.122284994C>G | CA354161314 | CASR | c.2809C>G (p.Leu937Val) c.3070C>G (p.Leu1024Val) c.3040C>G (p.Leu1014Val) c.2557C>G (p.Leu853Val) c.2452C>G (p.Leu818Val) | |
3 | g.122284994C>T | CA82749487 | CASR | c.2809C>T (p.Leu937Phe) c.3070C>T (p.Leu1024Phe) c.3040C>T (p.Leu1014Phe) c.2557C>T (p.Leu853Phe) c.2452C>T (p.Leu818Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284995T>A | CA354161315 | CASR | c.2810T>A (p.Leu937His) c.3071T>A (p.Leu1024His) c.3041T>A (p.Leu1014His) c.2558T>A (p.Leu853His) c.2453T>A (p.Leu818His) | |
3 | g.122284995T>C | CA354161316 | CASR | c.2810T>C (p.Leu937Pro) c.3071T>C (p.Leu1024Pro) c.3041T>C (p.Leu1014Pro) c.2558T>C (p.Leu853Pro) c.2453T>C (p.Leu818Pro) | ClinVar |
3 | g.122284995T>G | CA354161317 | CASR | c.2810T>G (p.Leu937Arg) c.3071T>G (p.Leu1024Arg) c.3041T>G (p.Leu1014Arg) c.2558T>G (p.Leu853Arg) c.2453T>G (p.Leu818Arg) | |
3 | g.122284995_122284996delinsTC | CA1397873171 | CASR | c.2810_2811delinsTC (p.Leu937=) c.3071_3072delinsTC (p.Leu1024=) c.3041_3042delinsTC (p.Leu1014=) c.2558_2559delinsTC (p.Leu853=) c.2453_2454delinsTC (p.Leu818=) | |
3 | g.122284996C>A | CA435425559 | CASR | c.2811C>A (p.Leu937=) c.3072C>A (p.Leu1024=) c.3042C>A (p.Leu1014=) c.2559C>A (p.Leu853=) c.2454C>A (p.Leu818=) | ClinVar dbSNP |
3 | g.122284996C= | CA1397873176 | CASR | c.2811C= (p.Leu937=) c.3072C= (p.Leu1024=) c.3042C= (p.Leu1014=) c.2559C= (p.Leu853=) c.2454C= (p.Leu818=) | |
3 | g.122284996C>G | CA435425560 | CASR | c.2811C>G (p.Leu937=) c.3072C>G (p.Leu1024=) c.3042C>G (p.Leu1014=) c.2559C>G (p.Leu853=) c.2454C>G (p.Leu818=) | ClinVar dbSNP |
3 | g.122284996C>T | CA435425561 | CASR | c.2811C>T (p.Leu937=) c.3072C>T (p.Leu1024=) c.3042C>T (p.Leu1014=) c.2559C>T (p.Leu853=) c.2454C>T (p.Leu818=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284998del | CA916082597 | CASR | c.2813del (p.Pro938ArgfsTer9) c.3074del (p.Pro1025ArgfsTer9) c.3044del (p.Pro1015ArgfsTer9) c.2561del (p.Pro854ArgfsTer9) c.2456del (p.Pro819ArgfsTer9) | ClinVar dbSNP gnomAD v4 |
3 | g.122284997C>A | CA354161320 | CASR | c.2812C>A (p.Pro938Thr) c.3073C>A (p.Pro1025Thr) c.3043C>A (p.Pro1015Thr) c.2560C>A (p.Pro854Thr) c.2455C>A (p.Pro819Thr) | |
3 | g.122284997C>G | CA354161319 | CASR | c.2812C>G (p.Pro938Ala) c.3073C>G (p.Pro1025Ala) c.3043C>G (p.Pro1015Ala) c.2560C>G (p.Pro854Ala) c.2455C>G (p.Pro819Ala) | |
3 | g.122284997C>T | CA354161318 | CASR | c.2812C>T (p.Pro938Ser) c.3073C>T (p.Pro1025Ser) c.3043C>T (p.Pro1015Ser) c.2560C>T (p.Pro854Ser) c.2455C>T (p.Pro819Ser) | |
3 | g.122284998C>A | CA354161321 | CASR | c.2813C>A (p.Pro938Gln) c.3074C>A (p.Pro1025Gln) c.3044C>A (p.Pro1015Gln) c.2561C>A (p.Pro854Gln) c.2456C>A (p.Pro819Gln) | |
3 | g.122284998C= | CA1397873177 | CASR | c.2813C= (p.Pro938=) c.3074C= (p.Pro1025=) c.3044C= (p.Pro1015=) c.2561C= (p.Pro854=) c.2456C= (p.Pro819=) | |
3 | g.122284998C>G | CA354161322 | CASR | c.2813C>G (p.Pro938Arg) c.3074C>G (p.Pro1025Arg) c.3044C>G (p.Pro1015Arg) c.2561C>G (p.Pro854Arg) c.2456C>G (p.Pro819Arg) | |
3 | g.122284998C>T | CA2569921 | CASR | c.2813C>T (p.Pro938Leu) c.3074C>T (p.Pro1025Leu) c.3044C>T (p.Pro1015Leu) c.2561C>T (p.Pro854Leu) c.2456C>T (p.Pro819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122284999G>A | CA2569922 | CASR | c.2814G>A (p.Pro938=) c.3075G>A (p.Pro1025=) c.3045G>A (p.Pro1015=) c.2562G>A (p.Pro854=) c.2457G>A (p.Pro819=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284999G>C | CA435425563 | CASR | c.2814G>C (p.Pro938=) c.3075G>C (p.Pro1025=) c.3045G>C (p.Pro1015=) c.2562G>C (p.Pro854=) c.2457G>C (p.Pro819=) | |
3 | g.122284999G= | CA1397873179 | CASR | c.2814G= (p.Pro938=) c.3075G= (p.Pro1025=) c.3045G= (p.Pro1015=) c.2562G= (p.Pro854=) c.2457G= (p.Pro819=) | |
3 | g.122284999G>T | CA435425562 | CASR | c.2814G>T (p.Pro938=) c.3075G>T (p.Pro1025=) c.3045G>T (p.Pro1015=) c.2562G>T (p.Pro854=) c.2457G>T (p.Pro819=) | ClinVar |
3 | g.122285000C>A | CA354161323 | CASR | c.2815C>A (p.Leu939Met) c.3076C>A (p.Leu1026Met) c.3046C>A (p.Leu1016Met) c.2563C>A (p.Leu855Met) c.2458C>A (p.Leu820Met) | |
3 | g.122285000C>G | CA354161324 | CASR | c.2815C>G (p.Leu939Val) c.3076C>G (p.Leu1026Val) c.3046C>G (p.Leu1016Val) c.2563C>G (p.Leu855Val) c.2458C>G (p.Leu820Val) | |
3 | g.122285000C>T | CA435425564 | CASR | c.2815C>T (p.Leu939=) c.3076C>T (p.Leu1026=) c.3046C>T (p.Leu1016=) c.2563C>T (p.Leu855=) c.2458C>T (p.Leu820=) | |
3 | g.122285001T>A | CA354161325 | CASR | c.2816T>A (p.Leu939Gln) c.3077T>A (p.Leu1026Gln) c.3047T>A (p.Leu1016Gln) c.2564T>A (p.Leu855Gln) c.2459T>A (p.Leu820Gln) | gnomAD v4 |
3 | g.122285001T>C | CA2569923 | CASR | c.2816T>C (p.Leu939Pro) c.3077T>C (p.Leu1026Pro) c.3047T>C (p.Leu1016Pro) c.2564T>C (p.Leu855Pro) c.2459T>C (p.Leu820Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285001T>G | CA354161326 | CASR | c.2816T>G (p.Leu939Arg) c.3077T>G (p.Leu1026Arg) c.3047T>G (p.Leu1016Arg) c.2564T>G (p.Leu855Arg) c.2459T>G (p.Leu820Arg) | |
3 | g.122285001T= | CA1397873180 | CASR | c.2816T= (p.Leu939=) c.3077T= (p.Leu1026=) c.3047T= (p.Leu1016=) c.2564T= (p.Leu855=) c.2459T= (p.Leu820=) | |
3 | g.122285002G>A | CA435425565 | CASR | c.2817G>A (p.Leu939=) c.3078G>A (p.Leu1026=) c.3048G>A (p.Leu1016=) c.2565G>A (p.Leu855=) c.2460G>A (p.Leu820=) | ClinVar dbSNP |
3 | g.122285002G>C | CA435425566 | CASR | c.2817G>C (p.Leu939=) c.3078G>C (p.Leu1026=) c.3048G>C (p.Leu1016=) c.2565G>C (p.Leu855=) c.2460G>C (p.Leu820=) | |
3 | g.122285002G= | CA1397873182 | CASR | c.2817G= (p.Leu939=) c.3078G= (p.Leu1026=) c.3048G= (p.Leu1016=) c.2565G= (p.Leu855=) c.2460G= (p.Leu820=) | |
3 | g.122285002G>T | CA435425567 | CASR | c.2817G>T (p.Leu939=) c.3078G>T (p.Leu1026=) c.3048G>T (p.Leu1016=) c.2565G>T (p.Leu855=) c.2460G>T (p.Leu820=) | ClinVar |
3 | g.122285003C>A | CA354161327 | CASR | c.2818C>A (p.Gln940Lys) c.3079C>A (p.Gln1027Lys) c.3049C>A (p.Gln1017Lys) c.2566C>A (p.Gln856Lys) c.2461C>A (p.Gln821Lys) | |
3 | g.122285003C>G | CA354161328 | CASR | c.2818C>G (p.Gln940Glu) c.3079C>G (p.Gln1027Glu) c.3049C>G (p.Gln1017Glu) c.2566C>G (p.Gln856Glu) c.2461C>G (p.Gln821Glu) | |
3 | g.122285003C>T | CA354161329 | CASR | c.2818C>T (p.Gln940Ter) c.3079C>T (p.Gln1027Ter) c.3049C>T (p.Gln1017Ter) c.2566C>T (p.Gln856Ter) c.2461C>T (p.Gln821Ter) | |
3 | g.122285004A= | CA1397873184 | CASR | c.2819A= (p.Gln940=) c.3080A= (p.Gln1027=) c.3050A= (p.Gln1017=) c.2567A= (p.Gln856=) c.2462A= (p.Gln821=) | |
3 | g.122285004A>C | CA354161331 | CASR | c.2819A>C (p.Gln940Pro) c.3080A>C (p.Gln1027Pro) c.3050A>C (p.Gln1017Pro) c.2567A>C (p.Gln856Pro) c.2462A>C (p.Gln821Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122285004A>G | CA2569924 | CASR | c.2819A>G (p.Gln940Arg) c.3080A>G (p.Gln1027Arg) c.3050A>G (p.Gln1017Arg) c.2567A>G (p.Gln856Arg) c.2462A>G (p.Gln821Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285004A>T | CA354161330 | CASR | c.2819A>T (p.Gln940Leu) c.3080A>T (p.Gln1027Leu) c.3050A>T (p.Gln1017Leu) c.2567A>T (p.Gln856Leu) c.2462A>T (p.Gln821Leu) | COSMIC |
3 | g.122285005G>A | CA435425568 | CASR | c.2820G>A (p.Gln940=) c.3081G>A (p.Gln1027=) c.3051G>A (p.Gln1017=) c.2568G>A (p.Gln856=) c.2463G>A (p.Gln821=) | |
3 | g.122285005G>C | CA354161332 | CASR | c.2820G>C (p.Gln940His) c.3081G>C (p.Gln1027His) c.3051G>C (p.Gln1017His) c.2568G>C (p.Gln856His) c.2463G>C (p.Gln821His) | |
3 | g.122285005G>T | CA354161333 | CASR | c.2820G>T (p.Gln940His) c.3081G>T (p.Gln1027His) c.3051G>T (p.Gln1017His) c.2568G>T (p.Gln856His) c.2463G>T (p.Gln821His) | |
3 | g.122285006T>A | CA354161334 | CASR | c.2821T>A (p.Cys941Ser) c.3082T>A (p.Cys1028Ser) c.3052T>A (p.Cys1018Ser) c.2569T>A (p.Cys857Ser) c.2464T>A (p.Cys822Ser) | |
3 | g.122285006T>C | CA354161336 | CASR | c.2821T>C (p.Cys941Arg) c.3082T>C (p.Cys1028Arg) c.3052T>C (p.Cys1018Arg) c.2569T>C (p.Cys857Arg) c.2464T>C (p.Cys822Arg) | ClinVar gnomAD v4 |
3 | g.122285006T>G | CA354161335 | CASR | c.2821T>G (p.Cys941Gly) c.3082T>G (p.Cys1028Gly) c.3052T>G (p.Cys1018Gly) c.2569T>G (p.Cys857Gly) c.2464T>G (p.Cys822Gly) | ClinVar |
3 | g.122285007G>A | CA354161337 | CASR | c.2822G>A (p.Cys941Tyr) c.3083G>A (p.Cys1028Tyr) c.3053G>A (p.Cys1018Tyr) c.2570G>A (p.Cys857Tyr) c.2465G>A (p.Cys822Tyr) | |
3 | g.122285007G>C | CA354161339 | CASR | c.2822G>C (p.Cys941Ser) c.3083G>C (p.Cys1028Ser) c.3053G>C (p.Cys1018Ser) c.2570G>C (p.Cys857Ser) c.2465G>C (p.Cys822Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122285007G= | CA1397873185 | CASR | c.2822G= (p.Cys941=) c.3083G= (p.Cys1028=) c.3053G= (p.Cys1018=) c.2570G= (p.Cys857=) c.2465G= (p.Cys822=) | |
3 | g.122285007G>T | CA354161338 | CASR | c.2822G>T (p.Cys941Phe) c.3083G>T (p.Cys1028Phe) c.3053G>T (p.Cys1018Phe) c.2570G>T (p.Cys857Phe) c.2465G>T (p.Cys822Phe) | |
3 | g.122285008C>A | CA354161340 | CASR | c.2823C>A (p.Cys941Ter) c.3084C>A (p.Cys1028Ter) c.3054C>A (p.Cys1018Ter) c.2571C>A (p.Cys857Ter) c.2466C>A (p.Cys822Ter) | |
3 | g.122285008C= | CA1397873187 | CASR | c.2823C= (p.Cys941=) c.3084C= (p.Cys1028=) c.3054C= (p.Cys1018=) c.2571C= (p.Cys857=) c.2466C= (p.Cys822=) | |
3 | g.122285008C>G | CA354161341 | CASR | c.2823C>G (p.Cys941Trp) c.3084C>G (p.Cys1028Trp) c.3054C>G (p.Cys1018Trp) c.2571C>G (p.Cys857Trp) c.2466C>G (p.Cys822Trp) | |
3 | g.122285008C>T | CA2569925 | CASR | c.2823C>T (p.Cys941=) c.3084C>T (p.Cys1028=) c.3054C>T (p.Cys1018=) c.2571C>T (p.Cys857=) c.2466C>T (p.Cys822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285009G>A | CA16611138 | CASR | c.2824G>A (p.Gly942Arg) c.3085G>A (p.Gly1029Arg) c.3055G>A (p.Gly1019Arg) c.2572G>A (p.Gly858Arg) c.2467G>A (p.Gly823Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285009G>C | CA354161342 | CASR | c.2824G>C (p.Gly942Arg) c.3085G>C (p.Gly1029Arg) c.3055G>C (p.Gly1019Arg) c.2572G>C (p.Gly858Arg) c.2467G>C (p.Gly823Arg) | |
3 | g.122285009G= | CA1397873189 | CASR | c.2824G= (p.Gly942=) c.3085G= (p.Gly1029=) c.3055G= (p.Gly1019=) c.2572G= (p.Gly858=) c.2467G= (p.Gly823=) | |
3 | g.122285009G>T | CA354161343 | CASR | c.2824G>T (p.Gly942Trp) c.3085G>T (p.Gly1029Trp) c.3055G>T (p.Gly1019Trp) c.2572G>T (p.Gly858Trp) c.2467G>T (p.Gly823Trp) | |
3 | g.122285012del | CA2580068670 | CASR | c.2827del (p.Glu943LysfsTer4) c.3088del (p.Glu1030LysfsTer4) c.3058del (p.Glu1020LysfsTer4) c.2575del (p.Glu859LysfsTer4) c.2470del (p.Glu824LysfsTer4) | ClinVar |
3 | g.122285010G>A | CA354161344 | CASR | c.2825G>A (p.Gly942Glu) c.3086G>A (p.Gly1029Glu) c.3056G>A (p.Gly1019Glu) c.2573G>A (p.Gly858Glu) c.2468G>A (p.Gly823Glu) | ClinVar |
3 | g.122285010G>C | CA354161345 | CASR | c.2825G>C (p.Gly942Ala) c.3086G>C (p.Gly1029Ala) c.3056G>C (p.Gly1019Ala) c.2573G>C (p.Gly858Ala) c.2468G>C (p.Gly823Ala) | |
3 | g.122285010G>T | CA354161346 | CASR | c.2825G>T (p.Gly942Val) c.3086G>T (p.Gly1029Val) c.3056G>T (p.Gly1019Val) c.2573G>T (p.Gly858Val) c.2468G>T (p.Gly823Val) | |
3 | g.122285011G>A | CA435425569 | CASR | c.2826G>A (p.Gly942=) c.3087G>A (p.Gly1029=) c.3057G>A (p.Gly1019=) c.2574G>A (p.Gly858=) c.2469G>A (p.Gly823=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285011G>C | CA435425570 | CASR | c.2826G>C (p.Gly942=) c.3087G>C (p.Gly1029=) c.3057G>C (p.Gly1019=) c.2574G>C (p.Gly858=) c.2469G>C (p.Gly823=) | ClinVar |
3 | g.122285011G= | CA1397873191 | CASR | c.2826G= (p.Gly942=) c.3087G= (p.Gly1029=) c.3057G= (p.Gly1019=) c.2574G= (p.Gly858=) c.2469G= (p.Gly823=) | |
3 | g.122285011G>T | CA435425571 | CASR | c.2826G>T (p.Gly942=) c.3087G>T (p.Gly1029=) c.3057G>T (p.Gly1019=) c.2574G>T (p.Gly858=) c.2469G>T (p.Gly823=) | |
3 | g.122285012G>A | CA354161347 | CASR | c.2827G>A (p.Glu943Lys) c.3088G>A (p.Glu1030Lys) c.3058G>A (p.Glu1020Lys) c.2575G>A (p.Glu859Lys) c.2470G>A (p.Glu824Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285012G>C | CA16611098 | CASR | c.2827G>C (p.Glu943Gln) c.3088G>C (p.Glu1030Gln) c.3058G>C (p.Glu1020Gln) c.2575G>C (p.Glu859Gln) c.2470G>C (p.Glu824Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122285012G= | CA1397873195 | CASR | c.2827G= (p.Glu943=) c.3088G= (p.Glu1030=) c.3058G= (p.Glu1020=) c.2575G= (p.Glu859=) c.2470G= (p.Glu824=) | |
3 | g.122285012G>T | CA354161348 | CASR | c.2827G>T (p.Glu943Ter) c.3088G>T (p.Glu1030Ter) c.3058G>T (p.Glu1020Ter) c.2575G>T (p.Glu859Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
3 | g.122285013A>C | CA354161349 | CASR | c.2828A>C (p.Glu943Ala) c.3089A>C (p.Glu1030Ala) c.3059A>C (p.Glu1020Ala) c.2576A>C (p.Glu859Ala) c.2471A>C (p.Glu824Ala) | |
3 | g.122285013A>G | CA354161351 | CASR | c.2828A>G (p.Glu943Gly) c.3089A>G (p.Glu1030Gly) c.3059A>G (p.Glu1020Gly) c.2576A>G (p.Glu859Gly) c.2471A>G (p.Glu824Gly) | |
3 | g.122285013A>T | CA354161350 | CASR | c.2828A>T (p.Glu943Val) c.3089A>T (p.Glu1030Val) c.3059A>T (p.Glu1020Val) c.2576A>T (p.Glu859Val) c.2471A>T (p.Glu824Val) | |
3 | g.122285014A>C | CA354161352 | CASR | c.2829A>C (p.Glu943Asp) c.3090A>C (p.Glu1030Asp) c.3060A>C (p.Glu1020Asp) c.2577A>C (p.Glu859Asp) c.2472A>C (p.Glu824Asp) | |
3 | g.122285014A>G | CA435425572 | CASR | c.2829A>G (p.Glu943=) c.3090A>G (p.Glu1030=) c.3060A>G (p.Glu1020=) c.2577A>G (p.Glu859=) c.2472A>G (p.Glu824=) | |
3 | g.122285014A>T | CA354161353 | CASR | c.2829A>T (p.Glu943Asp) c.3090A>T (p.Glu1030Asp) c.3060A>T (p.Glu1020Asp) c.2577A>T (p.Glu859Asp) c.2472A>T (p.Glu824Asp) | |
3 | g.122285015A>C | CA354161354 | CASR | c.2830A>C (p.Thr944Pro) c.3091A>C (p.Thr1031Pro) c.3061A>C (p.Thr1021Pro) c.2578A>C (p.Thr860Pro) c.2473A>C (p.Thr825Pro) | |
3 | g.122285015A>G | CA354161355 | CASR | c.2830A>G (p.Thr944Ala) c.3091A>G (p.Thr1031Ala) c.3061A>G (p.Thr1021Ala) c.2578A>G (p.Thr860Ala) c.2473A>G (p.Thr825Ala) | gnomAD v4 |
3 | g.122285015A>T | CA354161356 | CASR | c.2830A>T (p.Thr944Ser) c.3091A>T (p.Thr1031Ser) c.3061A>T (p.Thr1021Ser) c.2578A>T (p.Thr860Ser) c.2473A>T (p.Thr825Ser) | |
3 | g.122285016C>A | CA2569926 | CASR | c.2831C>A (p.Thr944Lys) c.3092C>A (p.Thr1031Lys) c.3062C>A (p.Thr1021Lys) c.2579C>A (p.Thr860Lys) c.2474C>A (p.Thr825Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285016C= | CA1397873198 | CASR | c.2831C= (p.Thr944=) c.3092C= (p.Thr1031=) c.3062C= (p.Thr1021=) c.2579C= (p.Thr860=) c.2474C= (p.Thr825=) | |
3 | g.122285016C>G | CA82749519 | CASR | c.2831C>G (p.Thr944Arg) c.3092C>G (p.Thr1031Arg) c.3062C>G (p.Thr1021Arg) c.2579C>G (p.Thr860Arg) c.2474C>G (p.Thr825Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285016C>T | CA354161357 | CASR | c.2831C>T (p.Thr944Met) c.3092C>T (p.Thr1031Met) c.3062C>T (p.Thr1021Met) c.2579C>T (p.Thr860Met) c.2474C>T (p.Thr825Met) | ClinVar dbSNP gnomAD v4 |