Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105720del | CA2640277625 | GAA | c.547-29del (n.547-29del) | gnomAD v4 |
17 | g.80105718G>T | CA2640277626 | GAA | c.547-31G>T (n.547-31G>T) | gnomAD v4 |
17 | g.80105720G>T | CA2640277628 | GAA | c.547-29G>T (n.547-29G>T) | gnomAD v4 |
17 | g.80105721A= | CA2277811199 | GAA | c.547-28A= (n.547-28A=) | |
17 | g.80105721A>T | CA2277811200 | GAA | c.547-28A>T (n.547-28A>T) | dbSNP |
17 | g.80105722A= | CA2277811201 | GAA | c.547-27A= (n.547-27A=) | |
17 | g.80105722A>G | CA627698569 | GAA | c.547-27A>G (n.547-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105723C= | CA2277811202 | GAA | c.547-26C= (n.547-26C=) | |
17 | g.80105723C>T | CA627698571 | GAA | c.547-26C>T (n.547-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105725T>C | CA2840238206 | GAA | c.547-24T>C (n.547-24T>C) | |
17 | g.80105726del | CA2840238207 | GAA | c.547-23del (n.547-23del) | |
17 | g.80105726C= | CA2277811203 | GAA | c.547-23C= (n.547-23C=) | |
17 | g.80105726C>G | CA8814923 | GAA | c.547-23C>G (n.547-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105727A= | CA2277811204 | GAA | c.547-22A= (n.547-22A=) | |
17 | g.80105727A>G | CA627698574 | GAA | c.547-22A>G (n.547-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105728A= | CA2277811205 | GAA | c.547-21A= (n.547-21A=) | |
17 | g.80105728A>G | CA8814924 | GAA | c.547-21A>G (n.547-21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105732del | CA2640277635 | GAA | c.547-17del (n.547-17del) | gnomAD v4 |
17 | g.80105733C>A | CA2277811207 | GAA | c.547-16C>A (n.547-16C>A) | dbSNP gnomAD v4 |
17 | g.80105733C= | CA2277811206 | GAA | c.547-16C= (n.547-16C=) | |
17 | g.80105733C>G | CA2640277641 | GAA | c.547-16C>G (n.547-16C>G) | ClinVar gnomAD v4 |
17 | g.80105733C>T | CA2640277642 | GAA | c.547-16C>T (n.547-16C>T) | gnomAD v4 |
17 | g.80105737del | CA2640277639 | GAA | c.547-12del (n.547-12del) | gnomAD v4 |
17 | g.80105734C>A | CA2277811208 | GAA | c.547-15C>A (n.547-15C>A) | dbSNP |
17 | g.80105734C= | CA2277811209 | GAA | c.547-15C= (n.547-15C=) | |
17 | g.80105734C>G | CA2576660836 | GAA | c.547-15C>G (n.547-15C>G) | |
17 | g.80105734C>T | CA627698578 | GAA | c.547-15C>T (n.547-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105735C>A | CA2640277647 | GAA | c.547-14C>A (n.547-14C>A) | gnomAD v4 |
17 | g.80105735C= | CA2277811210 | GAA | c.547-14C= (n.547-14C=) | |
17 | g.80105735C>G | CA2277811211 | GAA | c.547-14C>G (n.547-14C>G) | dbSNP |
17 | g.80105736C>A | CA627698580 | GAA | c.547-13C>A (n.547-13C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105736C= | CA2277811212 | GAA | c.547-13C= (n.547-13C=) | |
17 | g.80105736C>T | CA2640277651 | GAA | c.547-13C>T (n.547-13C>T) | gnomAD v4 |
17 | g.80105737C>A | CA2840238208 | GAA | c.547-12C>A (n.547-12C>A) | |
17 | g.80105737C= | CA2277811213 | GAA | c.547-12C= (n.547-12C=) | |
17 | g.80105737C>T | CA8814925 | GAA | c.547-12C>T (n.547-12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105738A>G | CA2576660837 | GAA | c.547-11A>G (n.547-11A>G) | dbSNP gnomAD v4 |
17 | g.80105739T>C | CA2640277652 | GAA | c.547-10T>C (n.547-10T>C) | gnomAD v4 |
17 | g.80105740C= | CA2277811214 | GAA | c.547-9C= (n.547-9C=) | |
17 | g.80105740C>G | CA8814926 | GAA | c.547-9C>G (n.547-9C>G) | dbSNP ExAC gnomAD v2 |
17 | g.80105740C>T | CA2573154932 | GAA | c.547-9C>T (n.547-9C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80105744T>G | CA2576660838 | GAA | c.547-5T>G (n.547-5T>G) | gnomAD v4 |
17 | g.80105744_80105745delinsGG | CA2580095297 | GAA | c.547-5_547-4delinsGG (n.547-5_547-4delinsGG) | ClinVar |
17 | g.80105745C>A | CA2277811216 | GAA | c.547-4C>A (n.547-4C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.80105745C= | CA2277811215 | GAA | c.547-4C= (n.547-4C=) | |
17 | g.80105745C>G | CA145784 | GAA | c.547-4C>G (n.547-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105745C>T | CA2581285006 | GAA | c.547-4C>T (n.547-4C>T) | gnomAD v4 |
17 | g.80105746T>C | CA2640277671 | GAA | c.547-3T>C (n.547-3T>C) | gnomAD v4 |
17 | g.80105747A>C | CA401362005 | GAA | c.547-2A>C (n.547-2A>C) | |
17 | g.80105747A>G | CA401362009 | GAA | c.547-2A>G (n.547-2A>G) | |
17 | g.80105747A>T | CA401362007 | GAA | c.547-2A>T (n.547-2A>T) | |
17 | g.80105748G>A | CA401362011 | GAA | c.547-1G>A (n.547-1G>A) | |
17 | g.80105748G>C | CA401362012 | GAA | c.547-1G>C (n.547-1G>C) | ClinVar dbSNP |
17 | g.80105748G>T | CA401362014 | GAA | c.547-1G>T (n.547-1G>T) | |
17 | g.80105749A= | CA2277811217 | GAA | c.547A= (p.Ile183=) | |
17 | g.80105749A>C | CA401362017 | GAA | c.547A>C (p.Ile183Leu) | |
17 | g.80105749A>G | CA401362018 | GAA | c.547A>G (p.Ile183Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80105749A>T | CA401362019 | GAA | c.547A>T (p.Ile183Phe) | |
17 | g.80105750T>A | CA401362021 | GAA | c.548T>A (p.Ile183Asn) | gnomAD v4 |
17 | g.80105750T>C | CA401362024 | GAA | c.548T>C (p.Ile183Thr) | |
17 | g.80105750T>G | CA401362026 | GAA | c.548T>G (p.Ile183Ser) | |
17 | g.80105751C>A | CA502177450 | GAA | c.549C>A (p.Ile183=) | gnomAD v4 |
17 | g.80105751C= | CA2277811218 | GAA | c.549C= (p.Ile183=) | |
17 | g.80105751C>G | CA8814927 | GAA | c.549C>G (p.Ile183Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105751C>T | CA502177453 | GAA | c.549C>T (p.Ile183=) | |
17 | g.80105752A>C | CA401362029 | GAA | c.550A>C (p.Lys184Gln) | |
17 | g.80105752A>G | CA401362031 | GAA | c.550A>G (p.Lys184Glu) | gnomAD v4 |
17 | g.80105752A>T | CA401362032 | GAA | c.550A>T (p.Lys184Ter) | |
17 | g.80105754del | CA2640277679 | GAA | c.552del (p.Asp185IlefsTer?) | gnomAD v4 |
17 | g.80105753A= | CA2277811219 | GAA | c.551A= (p.Lys184=) | |
17 | g.80105753A>C | CA401362034 | GAA | c.551A>C (p.Lys184Thr) | |
17 | g.80105753A>G | CA401362038 | GAA | c.551A>G (p.Lys184Arg) | dbSNP gnomAD v4 |
17 | g.80105753A>T | CA401362036 | GAA | c.551A>T (p.Lys184Ile) | |
17 | g.80105754A>C | CA401362040 | GAA | c.552A>C (p.Lys184Asn) | |
17 | g.80105754A>G | CA502177456 | GAA | c.552A>G (p.Lys184=) | ClinVar gnomAD v4 |
17 | g.80105754A>T | CA401362042 | GAA | c.552A>T (p.Lys184Asn) | |
17 | g.80105755G>A | CA401362045 | GAA | c.553G>A (p.Asp185Asn) | gnomAD v4 |
17 | g.80105755G>C | CA401362047 | GAA | c.553G>C (p.Asp185His) | |
17 | g.80105755G>T | CA401362049 | GAA | c.553G>T (p.Asp185Tyr) | |
17 | g.80105756A>C | CA401362055 | GAA | c.554A>C (p.Asp185Ala) | |
17 | g.80105756A>G | CA401362056 | GAA | c.554A>G (p.Asp185Gly) | |
17 | g.80105756A>T | CA401362059 | GAA | c.554A>T (p.Asp185Val) | |
17 | g.80105757T>A | CA401362061 | GAA | c.555T>A (p.Asp185Glu) | |
17 | g.80105757T>C | CA502177460 | GAA | c.555T>C (p.Asp185=) | |
17 | g.80105757T>G | CA401362062 | GAA | c.555T>G (p.Asp185Glu) | |
17 | g.80105758C>A | CA401362066 | GAA | c.556C>A (p.Pro186Thr) | |
17 | g.80105758C>G | CA401362069 | GAA | c.556C>G (p.Pro186Ala) | |
17 | g.80105758C>T | CA401362065 | GAA | c.556C>T (p.Pro186Ser) | ClinVar |
17 | g.80105759C>A | CA401362072 | GAA | c.557C>A (p.Pro186Gln) | ClinVar |
17 | g.80105759C>G | CA401362071 | GAA | c.557C>G (p.Pro186Arg) | |
17 | g.80105759C>T | CA401362074 | GAA | c.557C>T (p.Pro186Leu) | gnomAD v4 |
17 | g.80105760A= | CA2277811220 | GAA | c.558A= (p.Pro186=) | |
17 | g.80105760A>C | CA502177465 | GAA | c.558A>C (p.Pro186=) | |
17 | g.80105760A>G | CA502177468 | GAA | c.558A>G (p.Pro186=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105760A>T | CA502177466 | GAA | c.558A>T (p.Pro186=) | |
17 | g.80105761G>A | CA401362076 | GAA | c.559G>A (p.Ala187Thr) | |
17 | g.80105761G>C | CA401362078 | GAA | c.559G>C (p.Ala187Pro) | |
17 | g.80105761G>T | CA401362080 | GAA | c.559G>T (p.Ala187Ser) | gnomAD v4 COSMIC |
17 | g.80105762C>A | CA401362082 | GAA | c.560C>A (p.Ala187Asp) | |
17 | g.80105762C= | CA2277811221 | GAA | c.560C= (p.Ala187=) | |
17 | g.80105762C>G | CA8814928 | GAA | c.560C>G (p.Ala187Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105762C>T | CA401362084 | GAA | c.560C>T (p.Ala187Val) | |
17 | g.80105763T>A | CA502177472 | GAA | c.561T>A (p.Ala187=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105763T>C | CA502177474 | GAA | c.561T>C (p.Ala187=) | |
17 | g.80105763T>G | CA502177476 | GAA | c.561T>G (p.Ala187=) | |
17 | g.80105763T= | CA2277811222 | GAA | c.561T= (p.Ala187=) | |
17 | g.80105764A= | CA2277811223 | GAA | c.562A= (p.Asn188=) | |
17 | g.80105764A>C | CA401362086 | GAA | c.562A>C (p.Asn188His) | |
17 | g.80105764A>G | CA294888081 | GAA | c.562A>G (p.Asn188Asp) | dbSNP gnomAD v4 |
17 | g.80105764A>T | CA401362088 | GAA | c.562A>T (p.Asn188Tyr) | |
17 | g.80105765A>C | CA401362090 | GAA | c.563A>C (p.Asn188Thr) | |
17 | g.80105765A>G | CA401362092 | GAA | c.563A>G (p.Asn188Ser) | COSMIC |
17 | g.80105765A>T | CA401362094 | GAA | c.563A>T (p.Asn188Ile) | |
17 | g.80105766C>A | CA401362095 | GAA | c.564C>A (p.Asn188Lys) | |
17 | g.80105766C= | CA2277811224 | GAA | c.564C= (p.Asn188=) | |
17 | g.80105766C>G | CA401362097 | GAA | c.564C>G (p.Asn188Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105766C>T | CA502177484 | GAA | c.564C>T (p.Asn188=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105767A>C | CA502177485 | GAA | c.565A>C (p.Arg189=) | |
17 | g.80105767A>G | CA401362099 | GAA | c.565A>G (p.Arg189Gly) | |
17 | g.80105767A>T | CA401362100 | GAA | c.565A>T (p.Arg189Trp) | |
17 | g.80105768G>A | CA401362102 | GAA | c.566G>A (p.Arg189Lys) | ClinVar dbSNP |
17 | g.80105768G>C | CA401362104 | GAA | c.566G>C (p.Arg189Thr) | |
17 | g.80105768G= | CA2277811225 | GAA | c.566G= (p.Arg189=) | |
17 | g.80105768G>T | CA401362106 | GAA | c.566G>T (p.Arg189Met) | gnomAD v4 |
17 | g.80105769G>A | CA502177491 | GAA | c.567G>A (p.Arg189=) | ClinVar gnomAD v4 |
17 | g.80105769G>C | CA401362108 | GAA | c.567G>C (p.Arg189Ser) | |
17 | g.80105769G>T | CA401362111 | GAA | c.567G>T (p.Arg189Ser) | gnomAD v4 |
17 | g.80105770C>A | CA401362112 | GAA | c.568C>A (p.Arg190Ser) | |
17 | g.80105770C= | CA2277811226 | GAA | c.568C= (p.Arg190=) | |
17 | g.80105770C>G | CA401362114 | GAA | c.568C>G (p.Arg190Gly) | |
17 | g.80105770C>T | CA8814929 | GAA | c.568C>T (p.Arg190Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80105771G>A | CA273988 | GAA | c.569G>A (p.Arg190His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105771G>C | CA401362118 | GAA | c.569G>C (p.Arg190Pro) | |
17 | g.80105771G= | CA2277811227 | GAA | c.569G= (p.Arg190=) | |
17 | g.80105771G>T | CA8814930 | GAA | c.569G>T (p.Arg190Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105772C>A | CA502177495 | GAA | c.570C>A (p.Arg190=) | |
17 | g.80105772C>G | CA502177497 | GAA | c.570C>G (p.Arg190=) | |
17 | g.80105772C>T | CA502177498 | GAA | c.570C>T (p.Arg190=) | gnomAD v4 |
17 | g.80105773T>A | CA8814931 | GAA | c.571T>A (p.Tyr191Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105773T>C | CA294888098 | GAA | c.571T>C (p.Tyr191His) | dbSNP gnomAD v4 |
17 | g.80105773T>G | CA401362120 | GAA | c.571T>G (p.Tyr191Asp) | ClinVar dbSNP |
17 | g.80105773T= | CA2277811228 | GAA | c.571T= (p.Tyr191=) | |
17 | g.80105774A= | CA2277811229 | GAA | c.572A= (p.Tyr191=) | |
17 | g.80105774A>C | CA401362122 | GAA | c.572A>C (p.Tyr191Ser) | |
17 | g.80105774A>G | CA401362123 | GAA | c.572A>G (p.Tyr191Cys) | ClinVar dbSNP |
17 | g.80105774A>T | CA401362125 | GAA | c.572A>T (p.Tyr191Phe) | |
17 | g.80105775C>A | CA16041885 | GAA | c.573C>A (p.Tyr191Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105775C= | CA2277811230 | GAA | c.573C= (p.Tyr191=) | |
17 | g.80105775C>G | CA401362126 | GAA | c.573C>G (p.Tyr191Ter) | |
17 | g.80105775C>T | CA8814932 | GAA | c.573C>T (p.Tyr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105776G>A | CA401362134 | GAA | c.574G>A (p.Glu192Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105776G>C | CA401362130 | GAA | c.574G>C (p.Glu192Gln) | |
17 | g.80105776G= | CA2277811231 | GAA | c.574G= (p.Glu192=) | |
17 | g.80105776G>T | CA401362132 | GAA | c.574G>T (p.Glu192Ter) | COSMIC |
17 | g.80105777A>C | CA401362136 | GAA | c.575A>C (p.Glu192Ala) | |
17 | g.80105777A>G | CA401362137 | GAA | c.575A>G (p.Glu192Gly) | |
17 | g.80105777A>T | CA401362139 | GAA | c.575A>T (p.Glu192Val) | |
17 | g.80105778G>A | CA502177509 | GAA | c.576G>A (p.Glu192=) | |
17 | g.80105778G>C | CA8814933 | GAA | c.576G>C (p.Glu192Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105778G= | CA2277811232 | GAA | c.576G= (p.Glu192=) | |
17 | g.80105778G>T | CA401362143 | GAA | c.576G>T (p.Glu192Asp) | gnomAD v4 |
17 | g.80105779dup | CA2838388747 | GAA | c.577dup (p.Val193GlyfsTer?) | |
17 | g.80105779G>A | CA401362145 | GAA | c.577G>A (p.Val193Met) | |
17 | g.80105779G>C | CA401362148 | GAA | c.577G>C (p.Val193Leu) | |
17 | g.80105779G>T | CA401362147 | GAA | c.577G>T (p.Val193Leu) | gnomAD v4 |
17 | g.80105780T>A | CA401362150 | GAA | c.578T>A (p.Val193Glu) | |
17 | g.80105780T>C | CA401362152 | GAA | c.578T>C (p.Val193Ala) | |
17 | g.80105780T>G | CA401362154 | GAA | c.578T>G (p.Val193Gly) | |
17 | g.80105781G>A | CA502177515 | GAA | c.579G>A (p.Val193=) | ClinVar dbSNP |
17 | g.80105781G>C | CA8814934 | GAA | c.579G>C (p.Val193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105781G= | CA2277811233 | GAA | c.579G= (p.Val193=) | |
17 | g.80105781G>T | CA502177517 | GAA | c.579G>T (p.Val193=) | gnomAD v4 |
17 | g.80105781dup | CA2576660839 | GAA | c.579dup (p.Pro194AlafsTer?) | |
17 | g.80105782C>A | CA401362156 | GAA | c.580C>A (p.Pro194Thr) | |
17 | g.80105782C>G | CA401362158 | GAA | c.580C>G (p.Pro194Ala) | |
17 | g.80105782C>T | CA401362160 | GAA | c.580C>T (p.Pro194Ser) | gnomAD v4 |
17 | g.80105783C>A | CA401362161 | GAA | c.581C>A (p.Pro194His) | gnomAD v4 |
17 | g.80105783C= | CA2277811234 | GAA | c.581C= (p.Pro194=) | |
17 | g.80105783C>G | CA401362163 | GAA | c.581C>G (p.Pro194Arg) | |
17 | g.80105783C>T | CA401362165 | GAA | c.581C>T (p.Pro194Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105784C>A | CA502177523 | GAA | c.582C>A (p.Pro194=) | |
17 | g.80105784C= | CA2277811235 | GAA | c.582C= (p.Pro194=) | |
17 | g.80105784C>G | CA8814935 | GAA | c.582C>G (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105784C>T | CA502177525 | GAA | c.582C>T (p.Pro194=) | |
17 | g.80105785T>A | CA401362168 | GAA | c.583T>A (p.Leu195Met) | |
17 | g.80105785T>C | CA502177528 | GAA | c.583T>C (p.Leu195=) | ClinVar dbSNP |
17 | g.80105785T>G | CA401362170 | GAA | c.583T>G (p.Leu195Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105785T= | CA2277811236 | GAA | c.583T= (p.Leu195=) | |
17 | g.80105786T>A | CA401362172 | GAA | c.584T>A (p.Leu195Ter) | ClinVar |
17 | g.80105786T>C | CA401362176 | GAA | c.584T>C (p.Leu195Ser) | gnomAD v4 |
17 | g.80105786T>G | CA401362173 | GAA | c.584T>G (p.Leu195Trp) | |
17 | g.80105787G>A | CA502177532 | GAA | c.585G>A (p.Leu195=) | |
17 | g.80105787G>C | CA401362178 | GAA | c.585G>C (p.Leu195Phe) | |
17 | g.80105787G>T | CA401362180 | GAA | c.585G>T (p.Leu195Phe) | |
17 | g.80105787_80105788del | CA2840238209 | GAA | c.585_586del (p.Glu196AspfsTer?) | |
17 | g.80105788G>A | CA401362183 | GAA | c.586G>A (p.Glu196Lys) | |
17 | g.80105788G>C | CA401362184 | GAA | c.586G>C (p.Glu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105788G= | CA2277811237 | GAA | c.586G= (p.Glu196=) | |
17 | g.80105788G>T | CA401362187 | GAA | c.586G>T (p.Glu196Ter) | gnomAD v4 |
17 | g.80105789del | CA2580095298 | GAA | c.587del (p.Glu196GlyfsTer25) c.587del (p.Glu196GlyfsTer?) | ClinVar |
17 | g.80105789A>C | CA401362189 | GAA | c.587A>C (p.Glu196Ala) | |
17 | g.80105789A>G | CA401362191 | GAA | c.587A>G (p.Glu196Gly) | |
17 | g.80105789A>T | CA401362192 | GAA | c.587A>T (p.Glu196Val) | |
17 | g.80105790G>A | CA502177537 | GAA | c.588G>A (p.Glu196=) | |
17 | g.80105790G>C | CA401362194 | GAA | c.588G>C (p.Glu196Asp) | |
17 | g.80105790G>T | CA401362196 | GAA | c.588G>T (p.Glu196Asp) | |
17 | g.80105791A>C | CA401362201 | GAA | c.589A>C (p.Thr197Pro) | |
17 | g.80105791A>G | CA401362200 | GAA | c.589A>G (p.Thr197Ala) | |
17 | g.80105791A>T | CA401362198 | GAA | c.589A>T (p.Thr197Ser) | |
17 | g.80105792C>A | CA8814936 | GAA | c.590C>A (p.Thr197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105792C= | CA2277811238 | GAA | c.590C= (p.Thr197=) | |
17 | g.80105792C>G | CA401362205 | GAA | c.590C>G (p.Thr197Ser) | |
17 | g.80105792C>T | CA401362206 | GAA | c.590C>T (p.Thr197Ile) | ClinVar dbSNP |
17 | g.80105795del | CA2640277686 | GAA | c.593del (p.Pro198ArgfsTer23) c.593del (p.Pro198ArgfsTer?) | gnomAD v4 |
17 | g.80105793C>A | CA502177543 | GAA | c.591C>A (p.Thr197=) | |
17 | g.80105793C>G | CA502177545 | GAA | c.591C>G (p.Thr197=) | |
17 | g.80105793C>T | CA502177547 | GAA | c.591C>T (p.Thr197=) | gnomAD v4 |
17 | g.80105794C>A | CA294888175 | GAA | c.592C>A (p.Pro198Thr) | dbSNP |
17 | g.80105794C= | CA2277811239 | GAA | c.592C= (p.Pro198=) | |
17 | g.80105794C>G | CA401362209 | GAA | c.592C>G (p.Pro198Ala) | gnomAD v4 |
17 | g.80105794C>T | CA401362210 | GAA | c.592C>T (p.Pro198Ser) | |
17 | g.80105795C>A | CA401362212 | GAA | c.593C>A (p.Pro198Gln) | ClinVar dbSNP |
17 | g.80105795C= | CA2277811240 | GAA | c.593C= (p.Pro198=) | |
17 | g.80105795C>G | CA401362214 | GAA | c.593C>G (p.Pro198Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105795C>T | CA8814937 | GAA | c.593C>T (p.Pro198Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105796G>A | CA502177552 | GAA | c.594G>A (p.Pro198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105796G>C | CA502177553 | GAA | c.594G>C (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105796G= | CA2277811241 | GAA | c.594G= (p.Pro198=) | |
17 | g.80105796G>T | CA502177555 | GAA | c.594G>T (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105797C>A | CA401362217 | GAA | c.595C>A (p.His199Asn) | |
17 | g.80105797C>G | CA401362219 | GAA | c.595C>G (p.His199Asp) | |
17 | g.80105797C>T | CA401362222 | GAA | c.595C>T (p.His199Tyr) | gnomAD v4 COSMIC |
17 | g.80105797_80105798delinsTG | CA2580095300 | GAA | c.595_596delinsTG (p.His199Cys) | ClinVar |
17 | g.80105798A= | CA2277811242 | GAA | c.596A= (p.His199=) | |
17 | g.80105798A>C | CA401362227 | GAA | c.596A>C (p.His199Pro) | |
17 | g.80105798A>G | CA145785 | GAA | c.596A>G (p.His199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105798A>T | CA401362225 | GAA | c.596A>T (p.His199Leu) | ClinVar gnomAD v4 |
17 | g.80105798_80105802delinsGTGT | CA2580095301 | GAA | c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?) | ClinVar |
17 | g.80105799T>A | CA401362231 | GAA | c.597T>A (p.His199Gln) | |
17 | g.80105799T>C | CA502177561 | GAA | c.597T>C (p.His199=) | |
17 | g.80105799T>G | CA401362232 | GAA | c.597T>G (p.His199Gln) | |
17 | g.80105800G>A | CA401362233 | GAA | c.598G>A (p.Val200Ile) | |
17 | g.80105800G>C | CA401362234 | GAA | c.598G>C (p.Val200Leu) | |
17 | g.80105800G= | CA2277811243 | GAA | c.598G= (p.Val200=) | |
17 | g.80105800G>T | CA401362236 | GAA | c.598G>T (p.Val200Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105801T>A | CA8814938 | GAA | c.599T>A (p.Val200Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105801T>C | CA401362241 | GAA | c.599T>C (p.Val200Ala) | |
17 | g.80105801T>G | CA401362243 | GAA | c.599T>G (p.Val200Gly) | |
17 | g.80105801T= | CA2277811244 | GAA | c.599T= (p.Val200=) | |
17 | g.80105802C>A | CA502177568 | GAA | c.600C>A (p.Val200=) | |
17 | g.80105802C= | CA2277811245 | GAA | c.600C= (p.Val200=) | |
17 | g.80105802C>G | CA502177570 | GAA | c.600C>G (p.Val200=) | |
17 | g.80105802C>T | CA8814939 | GAA | c.600C>T (p.Val200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105803C>A | CA401362247 | GAA | c.601C>A (p.His201Asn) | |
17 | g.80105803C= | CA2277811246 | GAA | c.601C= (p.His201=) | |
17 | g.80105803C>G | CA401362249 | GAA | c.601C>G (p.His201Asp) | |
17 | g.80105803C>T | CA401362251 | GAA | c.601C>T (p.His201Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105804A>C | CA401362254 | GAA | c.602A>C (p.His201Pro) | |
17 | g.80105804A>G | CA401362256 | GAA | c.602A>G (p.His201Arg) | gnomAD v4 |
17 | g.80105804A>T | CA401362253 | GAA | c.602A>T (p.His201Leu) | |
17 | g.80105805C>A | CA401362257 | GAA | c.603C>A (p.His201Gln) | |
17 | g.80105805C= | CA2277811247 | GAA | c.603C= (p.His201=) | |
17 | g.80105805C>G | CA401362259 | GAA | c.603C>G (p.His201Gln) | |
17 | g.80105805C>T | CA502177577 | GAA | c.603C>T (p.His201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105806A>C | CA401362260 | GAA | c.604A>C (p.Ser202Arg) | |
17 | g.80105806A>G | CA401362262 | GAA | c.604A>G (p.Ser202Gly) | |
17 | g.80105806A>T | CA401362264 | GAA | c.604A>T (p.Ser202Cys) | |
17 | g.80105807G>A | CA401362270 | GAA | c.605G>A (p.Ser202Asn) | gnomAD v4 |
17 | g.80105807G>C | CA401362269 | GAA | c.605G>C (p.Ser202Thr) | |
17 | g.80105807G>T | CA401362267 | GAA | c.605G>T (p.Ser202Ile) | gnomAD v4 |
17 | g.80105808C>A | CA401362271 | GAA | c.606C>A (p.Ser202Arg) | |
17 | g.80105808C= | CA2277811248 | GAA | c.606C= (p.Ser202=) | |
17 | g.80105808C>G | CA401362273 | GAA | c.606C>G (p.Ser202Arg) | |
17 | g.80105808C>T | CA502177582 | GAA | c.606C>T (p.Ser202=) | dbSNP gnomAD v4 |
17 | g.80105809C>A | CA502177584 | GAA | c.607C>A (p.Arg203=) | gnomAD v4 |
17 | g.80105809C= | CA2277811249 | GAA | c.607C= (p.Arg203=) | |
17 | g.80105809C>G | CA401362275 | GAA | c.607C>G (p.Arg203Gly) | |
17 | g.80105809C>T | CA8814940 | GAA | c.607C>T (p.Arg203Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105810G>A | CA8814941 | GAA | c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105810G>C | CA401362278 | GAA | c.608G>C (p.Arg203Pro) | dbSNP gnomAD v4 |
17 | g.80105810G= | CA2277811250 | GAA | c.608G= (p.Arg203=) | |
17 | g.80105810G>T | CA401362279 | GAA | c.608G>T (p.Arg203Leu) | gnomAD v4 |
17 | g.80105812dup | CA2838388728 | GAA | c.610dup (p.Ala204GlyfsTer?) | |
17 | g.80105811G>A | CA502177589 | GAA | c.609G>A (p.Arg203=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105811G>C | CA502177591 | GAA | c.609G>C (p.Arg203=) | |
17 | g.80105811G= | CA2277811251 | GAA | c.609G= (p.Arg203=) | |
17 | g.80105811G>T | CA502177592 | GAA | c.609G>T (p.Arg203=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105812G>A | CA8814942 | GAA | c.610G>A (p.Ala204Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105812G>C | CA401362283 | GAA | c.610G>C (p.Ala204Pro) | |
17 | g.80105812G= | CA2277811252 | GAA | c.610G= (p.Ala204=) | |
17 | g.80105812G>T | CA401362280 | GAA | c.610G>T (p.Ala204Ser) | gnomAD v4 |
17 | g.80105813C>A | CA401362287 | GAA | c.611C>A (p.Ala204Glu) | gnomAD v4 |
17 | g.80105813C>G | CA401362285 | GAA | c.611C>G (p.Ala204Gly) | |
17 | g.80105813C>T | CA401362289 | GAA | c.611C>T (p.Ala204Val) | ClinVar gnomAD v4 |
17 | g.80105814A>C | CA502177598 | GAA | c.612A>C (p.Ala204=) | |
17 | g.80105814A>G | CA502177600 | GAA | c.612A>G (p.Ala204=) | ClinVar |
17 | g.80105814A>T | CA502177601 | GAA | c.612A>T (p.Ala204=) | |
17 | g.80105815C>A | CA401362292 | GAA | c.613C>A (p.Pro205Thr) | |
17 | g.80105815C= | CA2277811253 | GAA | c.613C= (p.Pro205=) | |
17 | g.80105815C>G | CA401362293 | GAA | c.613C>G (p.Pro205Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105815C>T | CA401362294 | GAA | c.613C>T (p.Pro205Ser) | ClinVar gnomAD v4 |
17 | g.80105816C>A | CA401362296 | GAA | c.614C>A (p.Pro205Gln) | gnomAD v4 |
17 | g.80105816C= | CA2277811254 | GAA | c.614C= (p.Pro205=) | |
17 | g.80105816C>G | CA401362297 | GAA | c.614C>G (p.Pro205Arg) | |
17 | g.80105816C>T | CA8814943 | GAA | c.614C>T (p.Pro205Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105817G>A | CA243111 | GAA | c.615G>A (p.Pro205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105817G>C | CA502177607 | GAA | c.615G>C (p.Pro205=) | |
17 | g.80105817G= | CA2277811255 | GAA | c.615G= (p.Pro205=) | |
17 | g.80105817G>T | CA502177608 | GAA | c.615G>T (p.Pro205=) | |
17 | g.80105818T>A | CA401362302 | GAA | c.616T>A (p.Ser206Thr) | |
17 | g.80105818T>C | CA401362303 | GAA | c.616T>C (p.Ser206Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105818T>G | CA401362305 | GAA | c.616T>G (p.Ser206Ala) | |
17 | g.80105818T= | CA2277811256 | GAA | c.616T= (p.Ser206=) |