Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21002458A>C | CA345970043 | APOB | c.12964T>G (p.Phe4322Val) c.5870-3185T>G (n.5870-3185T>G) | gnomAD v4 |
2 | g.21002458A>G | CA345970045 | APOB | c.12964T>C (p.Phe4322Leu) c.5870-3185T>C (n.5870-3185T>C) | |
2 | g.21002458A>T | CA345970047 | APOB | c.12964T>A (p.Phe4322Ile) c.5870-3185T>A (n.5870-3185T>A) | |
2 | g.21002459T>A | CA051561 | APOB | c.12963A>T (p.Lys4321Asn) c.5870-3186A>T (n.5870-3186A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002459T>C | CA425342050 | APOB | c.12963A>G (p.Lys4321=) c.5870-3186A>G (n.5870-3186A>G) | gnomAD v4 |
2 | g.21002459T>G | CA345970049 | APOB | c.12963A>C (p.Lys4321Asn) c.5870-3186A>C (n.5870-3186A>C) | |
2 | g.21002459T= | CA2493472995 | APOB | c.12963A= (p.Lys4321=) c.5870-3186A= (n.5870-3186A=) | |
2 | g.21002460T>A | CA345970052 | APOB | c.12962A>T (p.Lys4321Ile) c.5870-3187A>T (n.5870-3187A>T) | |
2 | g.21002460T>C | CA345970054 | APOB | c.12962A>G (p.Lys4321Arg) c.5870-3187A>G (n.5870-3187A>G) | |
2 | g.21002460T>G | CA345970056 | APOB | c.12962A>C (p.Lys4321Thr) c.5870-3187A>C (n.5870-3187A>C) | |
2 | g.21002461T>A | CA345970058 | APOB | c.12961A>T (p.Lys4321Ter) c.5870-3188A>T (n.5870-3188A>T) | |
2 | g.21002461T>C | CA345970060 | APOB | c.12961A>G (p.Lys4321Glu) c.5870-3188A>G (n.5870-3188A>G) | gnomAD v4 |
2 | g.21002461T>G | CA345970062 | APOB | c.12961A>C (p.Lys4321Gln) c.5870-3188A>C (n.5870-3188A>C) | |
2 | g.21002462C>A | CA345970064 | APOB | c.12960G>T (p.Met4320Ile) c.5870-3189G>T (n.5870-3189G>T) | gnomAD v4 |
2 | g.21002462C>G | CA345970066 | APOB | c.12960G>C (p.Met4320Ile) c.5870-3189G>C (n.5870-3189G>C) | |
2 | g.21002462C>T | CA345970068 | APOB | c.12960G>A (p.Met4320Ile) c.5870-3189G>A (n.5870-3189G>A) | gnomAD v4 COSMIC |
2 | g.21002463A= | CA2493472996 | APOB | c.12959T= (p.Met4320=) c.5870-3190T= (n.5870-3190T=) | |
2 | g.21002463A>C | CA345970070 | APOB | c.12959T>G (p.Met4320Arg) c.5870-3190T>G (n.5870-3190T>G) | |
2 | g.21002463A>G | CA051538 | APOB | c.12959T>C (p.Met4320Thr) c.5870-3190T>C (n.5870-3190T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002463A>T | CA345970073 | APOB | c.12959T>A (p.Met4320Lys) c.5870-3190T>A (n.5870-3190T>A) | |
2 | g.21002463_21002478del | CA2586968824 | APOB | c.12944_12959del (p.Lys4315ArgfsTer29) c.12944_12959del (p.Lys4315ArgfsTer?) c.5870-3205_5870-3190del (n.5870-3205_5870-3190del) | |
2 | g.21002464T>A | CA345970077 | APOB | c.12958A>T (p.Met4320Leu) c.5870-3191A>T (n.5870-3191A>T) | |
2 | g.21002464T>C | CA345970080 | APOB | c.12958A>G (p.Met4320Val) c.5870-3191A>G (n.5870-3191A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002464T>G | CA345970076 | APOB | c.12958A>C (p.Met4320Leu) c.5870-3191A>C (n.5870-3191A>C) | |
2 | g.21002464T= | CA2493472997 | APOB | c.12958A= (p.Met4320=) c.5870-3191A= (n.5870-3191A=) | |
2 | g.21002465C>A | CA345970082 | APOB | c.12957G>T (p.Glu4319Asp) c.5870-3192G>T (n.5870-3192G>T) | |
2 | g.21002465C= | CA2493472998 | APOB | c.12957G= (p.Glu4319=) c.5870-3192G= (n.5870-3192G=) | |
2 | g.21002465C>G | CA345970084 | APOB | c.12957G>C (p.Glu4319Asp) c.5870-3192G>C (n.5870-3192G>C) | |
2 | g.21002465C>T | CA425342060 | APOB | c.12957G>A (p.Glu4319=) c.5870-3192G>A (n.5870-3192G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002465_21002469delinsCTCTT | CA2493472999 | APOB | c.12953_12957delinsAAGAG (p.Lys4318=) c.5870-3196_5870-3192delinsAAGAG (n.5870-3196_5870-3192delinsAAGAG) | |
2 | g.21002466T>A | CA345970086 | APOB | c.12956A>T (p.Glu4319Val) c.5870-3193A>T (n.5870-3193A>T) | |
2 | g.21002466T>C | CA345970088 | APOB | c.12956A>G (p.Glu4319Gly) c.5870-3193A>G (n.5870-3193A>G) | |
2 | g.21002466T>G | CA345970089 | APOB | c.12956A>C (p.Glu4319Ala) c.5870-3193A>C (n.5870-3193A>C) | |
2 | g.21002468_21002471del | CA2493473000 | APOB | c.12953_12956del (p.Lys4318ArgfsTer2) c.5870-3196_5870-3193del (n.5870-3196_5870-3193del) | dbSNP |
2 | g.21002467C>A | CA345970094 | APOB | c.12955G>T (p.Glu4319Ter) c.5870-3194G>T (n.5870-3194G>T) | gnomAD v4 |
2 | g.21002467C>G | CA345970091 | APOB | c.12955G>C (p.Glu4319Gln) c.5870-3194G>C (n.5870-3194G>C) | |
2 | g.21002467C>T | CA345970093 | APOB | c.12955G>A (p.Glu4319Lys) c.5870-3194G>A (n.5870-3194G>A) | |
2 | g.21002468T>A | CA345970095 | APOB | c.12954A>T (p.Lys4318Asn) c.5870-3195A>T (n.5870-3195A>T) | |
2 | g.21002468T>C | CA425342066 | APOB | c.12954A>G (p.Lys4318=) c.5870-3195A>G (n.5870-3195A>G) | |
2 | g.21002468T>G | CA345970097 | APOB | c.12954A>C (p.Lys4318Asn) c.5870-3195A>C (n.5870-3195A>C) | |
2 | g.21002469T>A | CA345970098 | APOB | c.12953A>T (p.Lys4318Ile) c.5870-3196A>T (n.5870-3196A>T) | |
2 | g.21002469T>C | CA345970100 | APOB | c.12953A>G (p.Lys4318Arg) c.5870-3196A>G (n.5870-3196A>G) | |
2 | g.21002469T>G | CA345970101 | APOB | c.12953A>C (p.Lys4318Thr) c.5870-3196A>C (n.5870-3196A>C) | |
2 | g.21002470T>A | CA345970105 | APOB | c.12952A>T (p.Lys4318Ter) c.5870-3197A>T (n.5870-3197A>T) | |
2 | g.21002470T>C | CA345970104 | APOB | c.12952A>G (p.Lys4318Glu) c.5870-3197A>G (n.5870-3197A>G) | |
2 | g.21002470T>G | CA345970103 | APOB | c.12952A>C (p.Lys4318Gln) c.5870-3197A>C (n.5870-3197A>C) | |
2 | g.21002471C>A | CA425342073 | APOB | c.12951G>T (p.Leu4317=) c.5870-3198G>T (n.5870-3198G>T) | |
2 | g.21002471C= | CA2493473001 | APOB | c.12951G= (p.Leu4317=) c.5870-3198G= (n.5870-3198G=) | |
2 | g.21002471C>G | CA051529 | APOB | c.12951G>C (p.Leu4317=) c.5870-3198G>C (n.5870-3198G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002471C>T | CA425342074 | APOB | c.12951G>A (p.Leu4317=) c.5870-3198G>A (n.5870-3198G>A) | COSMIC |
2 | g.21002472A>C | CA345970109 | APOB | c.12950T>G (p.Leu4317Arg) c.5870-3199T>G (n.5870-3199T>G) | |
2 | g.21002472A>G | CA345970106 | APOB | c.12950T>C (p.Leu4317Pro) c.5870-3199T>C (n.5870-3199T>C) | |
2 | g.21002472A>T | CA345970107 | APOB | c.12950T>A (p.Leu4317Gln) c.5870-3199T>A (n.5870-3199T>A) | |
2 | g.21002473G>A | CA425342081 | APOB | c.12949C>T (p.Leu4317=) c.5870-3200C>T (n.5870-3200C>T) | |
2 | g.21002473G>C | CA051519 | APOB | c.12949C>G (p.Leu4317Val) c.5870-3200C>G (n.5870-3200C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002473G= | CA2493473002 | APOB | c.12949C= (p.Leu4317=) c.5870-3200C= (n.5870-3200C=) | |
2 | g.21002473G>T | CA345970113 | APOB | c.12949C>A (p.Leu4317Met) c.5870-3200C>A (n.5870-3200C>A) | |
2 | g.21002474C>A | CA345970115 | APOB | c.12948G>T (p.Gln4316His) c.5870-3201G>T (n.5870-3201G>T) | |
2 | g.21002474C>G | CA345970117 | APOB | c.12948G>C (p.Gln4316His) c.5870-3201G>C (n.5870-3201G>C) | |
2 | g.21002474C>T | CA425342083 | APOB | c.12948G>A (p.Gln4316=) c.5870-3201G>A (n.5870-3201G>A) | |
2 | g.21002475T>A | CA345970119 | APOB | c.12947A>T (p.Gln4316Leu) c.5870-3202A>T (n.5870-3202A>T) | |
2 | g.21002475T>C | CA345970121 | APOB | c.12947A>G (p.Gln4316Arg) c.5870-3202A>G (n.5870-3202A>G) | ClinVar gnomAD v4 |
2 | g.21002475T>G | CA345970123 | APOB | c.12947A>C (p.Gln4316Pro) c.5870-3202A>C (n.5870-3202A>C) | |
2 | g.21002476G>A | CA345970125 | APOB | c.12946C>T (p.Gln4316Ter) c.5870-3203C>T (n.5870-3203C>T) | |
2 | g.21002476G>C | CA345970126 | APOB | c.12946C>G (p.Gln4316Glu) c.5870-3203C>G (n.5870-3203C>G) | |
2 | g.21002476G>T | CA345970128 | APOB | c.12946C>A (p.Gln4316Lys) c.5870-3203C>A (n.5870-3203C>A) | |
2 | g.21002477T>A | CA345970131 | APOB | c.12945A>T (p.Lys4315Asn) c.5870-3204A>T (n.5870-3204A>T) | |
2 | g.21002477T>C | CA425342089 | APOB | c.12945A>G (p.Lys4315=) c.5870-3204A>G (n.5870-3204A>G) | |
2 | g.21002477T>G | CA345970130 | APOB | c.12945A>C (p.Lys4315Asn) c.5870-3204A>C (n.5870-3204A>C) | ClinVar dbSNP |
2 | g.21002477T= | CA2493473003 | APOB | c.12945A= (p.Lys4315=) c.5870-3204A= (n.5870-3204A=) | |
2 | g.21002478T>A | CA345970134 | APOB | c.12944A>T (p.Lys4315Ile) c.5870-3205A>T (n.5870-3205A>T) | |
2 | g.21002478T>C | CA345970135 | APOB | c.12944A>G (p.Lys4315Arg) c.5870-3205A>G (n.5870-3205A>G) | |
2 | g.21002478T>G | CA345970137 | APOB | c.12944A>C (p.Lys4315Thr) c.5870-3205A>C (n.5870-3205A>C) | |
2 | g.21002479T>A | CA345970140 | APOB | c.12943A>T (p.Lys4315Ter) c.5870-3206A>T (n.5870-3206A>T) | |
2 | g.21002479T>C | CA345970142 | APOB | c.12943A>G (p.Lys4315Glu) c.5870-3206A>G (n.5870-3206A>G) | |
2 | g.21002479T>G | CA345970144 | APOB | c.12943A>C (p.Lys4315Gln) c.5870-3206A>C (n.5870-3206A>C) | |
2 | g.21002480A>C | CA345970146 | APOB | c.12942T>G (p.Ile4314Met) c.5870-3207T>G (n.5870-3207T>G) | |
2 | g.21002480A>G | CA425342095 | APOB | c.12942T>C (p.Ile4314=) c.5870-3207T>C (n.5870-3207T>C) | |
2 | g.21002480A>T | CA425342096 | APOB | c.12942T>A (p.Ile4314=) c.5870-3207T>A (n.5870-3207T>A) | |
2 | g.21002481A>C | CA345970148 | APOB | c.12941T>G (p.Ile4314Ser) c.5870-3208T>G (n.5870-3208T>G) | |
2 | g.21002481A>G | CA345970150 | APOB | c.12941T>C (p.Ile4314Thr) c.5870-3208T>C (n.5870-3208T>C) | gnomAD v4 |
2 | g.21002481A>T | CA345970152 | APOB | c.12941T>A (p.Ile4314Asn) c.5870-3208T>A (n.5870-3208T>A) | |
2 | g.21002482T>A | CA345970153 | APOB | c.12940A>T (p.Ile4314Phe) c.5870-3209A>T (n.5870-3209A>T) | |
2 | g.21002482T>C | CA051502 | APOB | c.12940A>G (p.Ile4314Val) c.5870-3209A>G (n.5870-3209A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002482T>G | CA345970154 | APOB | c.12940A>C (p.Ile4314Leu) c.5870-3209A>C (n.5870-3209A>C) | |
2 | g.21002482T= | CA2493473004 | APOB | c.12940A= (p.Ile4314=) c.5870-3209A= (n.5870-3209A=) | |
2 | g.21002483G>A | CA425342104 | APOB | c.12939C>T (p.Asn4313=) c.5870-3210C>T (n.5870-3210C>T) | dbSNP |
2 | g.21002483G>C | CA345970156 | APOB | c.12939C>G (p.Asn4313Lys) c.5870-3210C>G (n.5870-3210C>G) | |
2 | g.21002483G= | CA2493473005 | APOB | c.12939C= (p.Asn4313=) c.5870-3210C= (n.5870-3210C=) | |
2 | g.21002483G>T | CA345970155 | APOB | c.12939C>A (p.Asn4313Lys) c.5870-3210C>A (n.5870-3210C>A) | |
2 | g.21002484T>A | CA345970157 | APOB | c.12938A>T (p.Asn4313Ile) c.5870-3211A>T (n.5870-3211A>T) | |
2 | g.21002484T>C | CA345970158 | APOB | c.12938A>G (p.Asn4313Ser) c.5870-3211A>G (n.5870-3211A>G) | |
2 | g.21002484T>G | CA345970159 | APOB | c.12938A>C (p.Asn4313Thr) c.5870-3211A>C (n.5870-3211A>C) | |
2 | g.21002485T>A | CA345970160 | APOB | c.12937A>T (p.Asn4313Tyr) c.5870-3212A>T (n.5870-3212A>T) | |
2 | g.21002485T>C | CA345970161 | APOB | c.12937A>G (p.Asn4313Asp) c.5870-3212A>G (n.5870-3212A>G) | |
2 | g.21002485T>G | CA345970162 | APOB | c.12937A>C (p.Asn4313His) c.5870-3212A>C (n.5870-3212A>C) | |
2 | g.21002486A= | CA2493473006 | APOB | c.12936T= (p.Asp4312=) c.5870-3213T= (n.5870-3213T=) | |
2 | g.21002486A>C | CA345970163 | APOB | c.12936T>G (p.Asp4312Glu) c.5870-3213T>G (n.5870-3213T>G) | |
2 | g.21002486A>G | CA425342111 | APOB | c.12936T>C (p.Asp4312=) c.5870-3213T>C (n.5870-3213T>C) | dbSNP |
2 | g.21002486A>T | CA345970164 | APOB | c.12936T>A (p.Asp4312Glu) c.5870-3213T>A (n.5870-3213T>A) | |
2 | g.21002487T>A | CA051498 | APOB | c.12935A>T (p.Asp4312Val) c.5870-3214A>T (n.5870-3214A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002487T>C | CA345970165 | APOB | c.12935A>G (p.Asp4312Gly) c.5870-3214A>G (n.5870-3214A>G) | |
2 | g.21002487T>G | CA345970166 | APOB | c.12935A>C (p.Asp4312Ala) c.5870-3214A>C (n.5870-3214A>C) | |
2 | g.21002487T= | CA2493473007 | APOB | c.12935A= (p.Asp4312=) c.5870-3214A= (n.5870-3214A=) | |
2 | g.21002488C>A | CA345970167 | APOB | c.12934G>T (p.Asp4312Tyr) c.5870-3215G>T (n.5870-3215G>T) | dbSNP |
2 | g.21002488C= | CA2493473008 | APOB | c.12934G= (p.Asp4312=) c.5870-3215G= (n.5870-3215G=) | |
2 | g.21002488C>G | CA345970168 | APOB | c.12934G>C (p.Asp4312His) c.5870-3215G>C (n.5870-3215G>C) | |
2 | g.21002488C>T | CA051486 | APOB | c.12934G>A (p.Asp4312Asn) c.5870-3215G>A (n.5870-3215G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002489T>A | CA345970170 | APOB | c.12933A>T (p.Glu4311Asp) c.5870-3216A>T (n.5870-3216A>T) | |
2 | g.21002489T>C | CA425342116 | APOB | c.12933A>G (p.Glu4311=) c.5870-3216A>G (n.5870-3216A>G) | |
2 | g.21002489T>G | CA345970169 | APOB | c.12933A>C (p.Glu4311Asp) c.5870-3216A>C (n.5870-3216A>C) | gnomAD v4 |
2 | g.21002490T>A | CA345970171 | APOB | c.12932A>T (p.Glu4311Val) c.5870-3217A>T (n.5870-3217A>T) | gnomAD v4 |
2 | g.21002490T>C | CA345970172 | APOB | c.12932A>G (p.Glu4311Gly) c.5870-3217A>G (n.5870-3217A>G) | |
2 | g.21002490T>G | CA345970173 | APOB | c.12932A>C (p.Glu4311Ala) c.5870-3217A>C (n.5870-3217A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002490T= | CA2493473009 | APOB | c.12932A= (p.Glu4311=) c.5870-3217A= (n.5870-3217A=) | |
2 | g.21002491C>A | CA345970174 | APOB | c.12931G>T (p.Glu4311Ter) c.5870-3218G>T (n.5870-3218G>T) | |
2 | g.21002491C>G | CA345970175 | APOB | c.12931G>C (p.Glu4311Gln) c.5870-3218G>C (n.5870-3218G>C) | |
2 | g.21002491C>T | CA345970176 | APOB | c.12931G>A (p.Glu4311Lys) c.5870-3218G>A (n.5870-3218G>A) | |
2 | g.21002492T>A | CA425342119 | APOB | c.12930A>T (p.Ile4310=) c.5870-3219A>T (n.5870-3219A>T) | |
2 | g.21002492T>C | CA345970177 | APOB | c.12930A>G (p.Ile4310Met) c.5870-3219A>G (n.5870-3219A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002492T>G | CA425342120 | APOB | c.12930A>C (p.Ile4310=) c.5870-3219A>C (n.5870-3219A>C) | |
2 | g.21002492T= | CA2493473010 | APOB | c.12930A= (p.Ile4310=) c.5870-3219A= (n.5870-3219A=) | |
2 | g.21002493A= | CA2493473011 | APOB | c.12929T= (p.Ile4310=) c.5870-3220T= (n.5870-3220T=) | |
2 | g.21002493A>C | CA345970178 | APOB | c.12929T>G (p.Ile4310Arg) c.5870-3220T>G (n.5870-3220T>G) | |
2 | g.21002493A>G | CA43488346 | APOB | c.12929T>C (p.Ile4310Thr) c.5870-3220T>C (n.5870-3220T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002493A>T | CA345970179 | APOB | c.12929T>A (p.Ile4310Lys) c.5870-3220T>A (n.5870-3220T>A) | |
2 | g.21002494T>A | CA345970180 | APOB | c.12928A>T (p.Ile4310Leu) c.5870-3221A>T (n.5870-3221A>T) | |
2 | g.21002494T>C | CA345970181 | APOB | c.12928A>G (p.Ile4310Val) c.5870-3221A>G (n.5870-3221A>G) | gnomAD v4 |
2 | g.21002494T>G | CA345970182 | APOB | c.12928A>C (p.Ile4310Leu) c.5870-3221A>C (n.5870-3221A>C) | |
2 | g.21002495T>A | CA425342125 | APOB | c.12927A>T (p.Leu4309=) c.5870-3222A>T (n.5870-3222A>T) | |
2 | g.21002495T>C | CA425342126 | APOB | c.12927A>G (p.Leu4309=) c.5870-3222A>G (n.5870-3222A>G) | |
2 | g.21002495T>G | CA425342127 | APOB | c.12927A>C (p.Leu4309=) c.5870-3222A>C (n.5870-3222A>C) | |
2 | g.21002496A>C | CA345970185 | APOB | c.12926T>G (p.Leu4309Arg) c.5870-3223T>G (n.5870-3223T>G) | |
2 | g.21002496A>G | CA345970184 | APOB | c.12926T>C (p.Leu4309Pro) c.5870-3223T>C (n.5870-3223T>C) | |
2 | g.21002496A>T | CA345970183 | APOB | c.12926T>A (p.Leu4309Gln) c.5870-3223T>A (n.5870-3223T>A) | gnomAD v4 |
2 | g.21002497G>A | CA425342128 | APOB | c.12925C>T (p.Leu4309=) c.5870-3224C>T (n.5870-3224C>T) | |
2 | g.21002497G>C | CA345970186 | APOB | c.12925C>G (p.Leu4309Val) c.5870-3224C>G (n.5870-3224C>G) | dbSNP |
2 | g.21002497G= | CA2493473012 | APOB | c.12925C= (p.Leu4309=) c.5870-3224C= (n.5870-3224C=) | |
2 | g.21002497G>T | CA345970187 | APOB | c.12925C>A (p.Leu4309Ile) c.5870-3224C>A (n.5870-3224C>A) | |
2 | g.21002498T>A | CA345970188 | APOB | c.12924A>T (p.Gln4308His) c.5870-3225A>T (n.5870-3225A>T) | |
2 | g.21002498T>C | CA43488365 | APOB | c.12924A>G (p.Gln4308=) c.5870-3225A>G (n.5870-3225A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002498T>G | CA345970189 | APOB | c.12924A>C (p.Gln4308His) c.5870-3225A>C (n.5870-3225A>C) | |
2 | g.21002498T= | CA2493473013 | APOB | c.12924A= (p.Gln4308=) c.5870-3225A= (n.5870-3225A=) | |
2 | g.21002499T>A | CA345970190 | APOB | c.12923A>T (p.Gln4308Leu) c.5870-3226A>T (n.5870-3226A>T) | gnomAD v4 |
2 | g.21002499T>C | CA345970192 | APOB | c.12923A>G (p.Gln4308Arg) c.5870-3226A>G (n.5870-3226A>G) | |
2 | g.21002499T>G | CA345970191 | APOB | c.12923A>C (p.Gln4308Pro) c.5870-3226A>C (n.5870-3226A>C) | gnomAD v4 |
2 | g.21002500G>A | CA345970193 | APOB | c.12922C>T (p.Gln4308Ter) c.5870-3227C>T (n.5870-3227C>T) | COSMIC |
2 | g.21002500G>C | CA345970194 | APOB | c.12922C>G (p.Gln4308Glu) c.5870-3227C>G (n.5870-3227C>G) | |
2 | g.21002500G>T | CA345970195 | APOB | c.12922C>A (p.Gln4308Lys) c.5870-3227C>A (n.5870-3227C>A) | |
2 | g.21002501G>A | CA425342293 | APOB | c.12921C>T (p.Phe4307=) c.5870-3228C>T (n.5870-3228C>T) | |
2 | g.21002501G>C | CA345970196 | APOB | c.12921C>G (p.Phe4307Leu) c.5870-3228C>G (n.5870-3228C>G) | |
2 | g.21002501G>T | CA345970197 | APOB | c.12921C>A (p.Phe4307Leu) c.5870-3228C>A (n.5870-3228C>A) | |
2 | g.21002502A= | CA2493473014 | APOB | c.12920T= (p.Phe4307=) c.5870-3229T= (n.5870-3229T=) | |
2 | g.21002502A>C | CA345970198 | APOB | c.12920T>G (p.Phe4307Cys) c.5870-3229T>G (n.5870-3229T>G) | |
2 | g.21002502A>G | CA345970199 | APOB | c.12920T>C (p.Phe4307Ser) c.5870-3229T>C (n.5870-3229T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002502A>T | CA345970200 | APOB | c.12920T>A (p.Phe4307Tyr) c.5870-3229T>A (n.5870-3229T>A) | |
2 | g.21002503_21002505del | CA2573134390 | APOB | c.12918_12920del (p.Phe4307del) c.5870-3231_5870-3229del (n.5870-3231_5870-3229del) | ClinVar dbSNP |
2 | g.21002503A>C | CA345970201 | APOB | c.12919T>G (p.Phe4307Val) c.5870-3230T>G (n.5870-3230T>G) | |
2 | g.21002503A>G | CA345970202 | APOB | c.12919T>C (p.Phe4307Leu) c.5870-3230T>C (n.5870-3230T>C) | |
2 | g.21002503A>T | CA345970203 | APOB | c.12919T>A (p.Phe4307Ile) c.5870-3230T>A (n.5870-3230T>A) | |
2 | g.21002504A>C | CA345970204 | APOB | c.12918T>G (p.Ile4306Met) c.5870-3231T>G (n.5870-3231T>G) | |
2 | g.21002504A>G | CA425342302 | APOB | c.12918T>C (p.Ile4306=) c.5870-3231T>C (n.5870-3231T>C) | |
2 | g.21002504A>T | CA425342303 | APOB | c.12918T>A (p.Ile4306=) c.5870-3231T>A (n.5870-3231T>A) | |
2 | g.21002505A= | CA2493473015 | APOB | c.12917T= (p.Ile4306=) c.5870-3232T= (n.5870-3232T=) | |
2 | g.21002505A>C | CA345970207 | APOB | c.12917T>G (p.Ile4306Ser) c.5870-3232T>G (n.5870-3232T>G) | |
2 | g.21002505A>G | CA345970205 | APOB | c.12917T>C (p.Ile4306Thr) c.5870-3232T>C (n.5870-3232T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.21002505A>T | CA345970206 | APOB | c.12917T>A (p.Ile4306Asn) c.5870-3232T>A (n.5870-3232T>A) | |
2 | g.21002506T>A | CA345970208 | APOB | c.12916A>T (p.Ile4306Phe) c.5870-3233A>T (n.5870-3233A>T) | |
2 | g.21002506T>C | CA345970209 | APOB | c.12916A>G (p.Ile4306Val) c.5870-3233A>G (n.5870-3233A>G) | dbSNP gnomAD v4 |
2 | g.21002506T>G | CA345970210 | APOB | c.12916A>C (p.Ile4306Leu) c.5870-3233A>C (n.5870-3233A>C) | |
2 | g.21002507G>A | CA425342308 | APOB | c.12915C>T (p.Phe4305=) c.5870-3234C>T (n.5870-3234C>T) | |
2 | g.21002507G>C | CA345970211 | APOB | c.12915C>G (p.Phe4305Leu) c.5870-3234C>G (n.5870-3234C>G) | |
2 | g.21002507G>T | CA345970212 | APOB | c.12915C>A (p.Phe4305Leu) c.5870-3234C>A (n.5870-3234C>A) | |
2 | g.21002508A= | CA2493473016 | APOB | c.12914T= (p.Phe4305=) c.5870-3235T= (n.5870-3235T=) | |
2 | g.21002508A>C | CA345970213 | APOB | c.12914T>G (p.Phe4305Cys) c.5870-3235T>G (n.5870-3235T>G) | |
2 | g.21002508A>G | CA345970214 | APOB | c.12914T>C (p.Phe4305Ser) c.5870-3235T>C (n.5870-3235T>C) | |
2 | g.21002508A>T | CA345970215 | APOB | c.12914T>A (p.Phe4305Tyr) c.5870-3235T>A (n.5870-3235T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002509A>C | CA345970216 | APOB | c.12913T>G (p.Phe4305Val) c.5870-3236T>G (n.5870-3236T>G) | |
2 | g.21002509A>G | CA345970217 | APOB | c.12913T>C (p.Phe4305Leu) c.5870-3236T>C (n.5870-3236T>C) | |
2 | g.21002509A>T | CA345970218 | APOB | c.12913T>A (p.Phe4305Ile) c.5870-3236T>A (n.5870-3236T>A) | |
2 | g.21002510T>A | CA345970219 | APOB | c.12912A>T (p.Gln4304His) c.5870-3237A>T (n.5870-3237A>T) | |
2 | g.21002510T>C | CA425342315 | APOB | c.12912A>G (p.Gln4304=) c.5870-3237A>G (n.5870-3237A>G) | ClinVar dbSNP |
2 | g.21002510T>G | CA345970220 | APOB | c.12912A>C (p.Gln4304His) c.5870-3237A>C (n.5870-3237A>C) | |
2 | g.21002510T= | CA2493473017 | APOB | c.12912A= (p.Gln4304=) c.5870-3237A= (n.5870-3237A=) | |
2 | g.21002511T>A | CA345970221 | APOB | c.12911A>T (p.Gln4304Leu) c.5870-3238A>T (n.5870-3238A>T) | |
2 | g.21002511T>C | CA345970222 | APOB | c.12911A>G (p.Gln4304Arg) c.5870-3238A>G (n.5870-3238A>G) | |
2 | g.21002511T>G | CA345970223 | APOB | c.12911A>C (p.Gln4304Pro) c.5870-3238A>C (n.5870-3238A>C) | |
2 | g.21002512G>A | CA345970224 | APOB | c.12910C>T (p.Gln4304Ter) c.5870-3239C>T (n.5870-3239C>T) | |
2 | g.21002512G>C | CA345970225 | APOB | c.12910C>G (p.Gln4304Glu) c.5870-3239C>G (n.5870-3239C>G) | |
2 | g.21002512G>T | CA345970226 | APOB | c.12910C>A (p.Gln4304Lys) c.5870-3239C>A (n.5870-3239C>A) | |
2 | g.21002513T>A | CA345970227 | APOB | c.12909A>T (p.Leu4303Phe) c.5870-3240A>T (n.5870-3240A>T) | |
2 | g.21002513T>C | CA425342321 | APOB | c.12909A>G (p.Leu4303=) c.5870-3240A>G (n.5870-3240A>G) | |
2 | g.21002513T>G | CA345970228 | APOB | c.12909A>C (p.Leu4303Phe) c.5870-3240A>C (n.5870-3240A>C) | |
2 | g.21002514A>C | CA345970229 | APOB | c.12908T>G (p.Leu4303Ter) c.5870-3241T>G (n.5870-3241T>G) | |
2 | g.21002514A>G | CA345970230 | APOB | c.12908T>C (p.Leu4303Ser) c.5870-3241T>C (n.5870-3241T>C) | |
2 | g.21002514A>T | CA345970231 | APOB | c.12908T>A (p.Leu4303Ter) c.5870-3241T>A (n.5870-3241T>A) | |
2 | g.21002515A>C | CA345970232 | APOB | c.12907T>G (p.Leu4303Val) c.5870-3242T>G (n.5870-3242T>G) | |
2 | g.21002515A>G | CA425342324 | APOB | c.12907T>C (p.Leu4303=) c.5870-3242T>C (n.5870-3242T>C) | |
2 | g.21002515A>T | CA345970233 | APOB | c.12907T>A (p.Leu4303Ile) c.5870-3242T>A (n.5870-3242T>A) | |
2 | g.21002516A>C | CA425342328 | APOB | c.12906T>G (p.Leu4302=) c.5870-3243T>G (n.5870-3243T>G) | |
2 | g.21002516A>G | CA425342329 | APOB | c.12906T>C (p.Leu4302=) c.5870-3243T>C (n.5870-3243T>C) | |
2 | g.21002516A>T | CA425342331 | APOB | c.12906T>A (p.Leu4302=) c.5870-3243T>A (n.5870-3243T>A) | |
2 | g.21002517A= | CA2493473018 | APOB | c.12905T= (p.Leu4302=) c.5870-3244T= (n.5870-3244T=) | |
2 | g.21002517A>C | CA43488373 | APOB | c.12905T>G (p.Leu4302Arg) c.5870-3244T>G (n.5870-3244T>G) | dbSNP |
2 | g.21002517A>G | CA345970234 | APOB | c.12905T>C (p.Leu4302Pro) c.5870-3244T>C (n.5870-3244T>C) | ClinVar |
2 | g.21002517A>T | CA345970235 | APOB | c.12905T>A (p.Leu4302His) c.5870-3244T>A (n.5870-3244T>A) | |
2 | g.21002518G>A | CA345970236 | APOB | c.12904C>T (p.Leu4302Phe) c.5870-3245C>T (n.5870-3245C>T) | |
2 | g.21002518G>C | CA345970237 | APOB | c.12904C>G (p.Leu4302Val) c.5870-3245C>G (n.5870-3245C>G) | |
2 | g.21002518G>T | CA345970238 | APOB | c.12904C>A (p.Leu4302Ile) c.5870-3245C>A (n.5870-3245C>A) | |
2 | g.21002519G>A | CA051478 | APOB | c.12903C>T (p.Asp4301=) c.5870-3246C>T (n.5870-3246C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002519G>C | CA345970239 | APOB | c.12903C>G (p.Asp4301Glu) c.5870-3246C>G (n.5870-3246C>G) | dbSNP |
2 | g.21002519G= | CA2493473019 | APOB | c.12903C= (p.Asp4301=) c.5870-3246C= (n.5870-3246C=) | |
2 | g.21002519G>T | CA345970240 | APOB | c.12903C>A (p.Asp4301Glu) c.5870-3246C>A (n.5870-3246C>A) | gnomAD v4 |
2 | g.21002520T>A | CA345970241 | APOB | c.12902A>T (p.Asp4301Val) c.5870-3247A>T (n.5870-3247A>T) | |
2 | g.21002520T>C | CA345970242 | APOB | c.12902A>G (p.Asp4301Gly) c.5870-3247A>G (n.5870-3247A>G) | |
2 | g.21002520T>G | CA345970243 | APOB | c.12902A>C (p.Asp4301Ala) c.5870-3247A>C (n.5870-3247A>C) | |
2 | g.21002521C>A | CA345970244 | APOB | c.12901G>T (p.Asp4301Tyr) c.5870-3248G>T (n.5870-3248G>T) | |
2 | g.21002521C= | CA2493473020 | APOB | c.12901G= (p.Asp4301=) c.5870-3248G= (n.5870-3248G=) | |
2 | g.21002521C>G | CA345970245 | APOB | c.12901G>C (p.Asp4301His) c.5870-3248G>C (n.5870-3248G>C) | |
2 | g.21002521C>T | CA051470 | APOB | c.12901G>A (p.Asp4301Asn) c.5870-3248G>A (n.5870-3248G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002522C>A | CA345970246 | APOB | c.12900G>T (p.Gln4300His) c.5870-3249G>T (n.5870-3249G>T) | |
2 | g.21002522C>G | CA345970247 | APOB | c.12900G>C (p.Gln4300His) c.5870-3249G>C (n.5870-3249G>C) | |
2 | g.21002522C>T | CA425342338 | APOB | c.12900G>A (p.Gln4300=) c.5870-3249G>A (n.5870-3249G>A) | gnomAD v4 |
2 | g.21002523T>A | CA345970248 | APOB | c.12899A>T (p.Gln4300Leu) c.5870-3250A>T (n.5870-3250A>T) | |
2 | g.21002523T>C | CA345970249 | APOB | c.12899A>G (p.Gln4300Arg) c.5870-3250A>G (n.5870-3250A>G) | |
2 | g.21002523T>G | CA051455 | APOB | c.12899A>C (p.Gln4300Pro) c.5870-3250A>C (n.5870-3250A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002523T= | CA2493473021 | APOB | c.12899A= (p.Gln4300=) c.5870-3250A= (n.5870-3250A=) | |
2 | g.21002524G>A | CA345970250 | APOB | c.12898C>T (p.Gln4300Ter) c.5870-3251C>T (n.5870-3251C>T) | |
2 | g.21002524G>C | CA345970251 | APOB | c.12898C>G (p.Gln4300Glu) c.5870-3251C>G (n.5870-3251C>G) | |
2 | g.21002524G>T | CA345970252 | APOB | c.12898C>A (p.Gln4300Lys) c.5870-3251C>A (n.5870-3251C>A) | |
2 | g.21002525A>C | CA425342342 | APOB | c.12897T>G (p.Leu4299=) c.5870-3252T>G (n.5870-3252T>G) | |
2 | g.21002525A>G | CA425342344 | APOB | c.12897T>C (p.Leu4299=) c.5870-3252T>C (n.5870-3252T>C) | |
2 | g.21002525A>T | CA425342345 | APOB | c.12897T>A (p.Leu4299=) c.5870-3252T>A (n.5870-3252T>A) | |
2 | g.21002526A= | CA2493473022 | APOB | c.12896T= (p.Leu4299=) c.5870-3253T= (n.5870-3253T=) | |
2 | g.21002526A>C | CA051445 | APOB | c.12896T>G (p.Leu4299Arg) c.5870-3253T>G (n.5870-3253T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002526A>G | CA345970253 | APOB | c.12896T>C (p.Leu4299Pro) c.5870-3253T>C (n.5870-3253T>C) | |
2 | g.21002526A>T | CA345970254 | APOB | c.12896T>A (p.Leu4299His) c.5870-3253T>A (n.5870-3253T>A) | |
2 | g.21002527G>A | CA345970255 | APOB | c.12895C>T (p.Leu4299Phe) c.5870-3254C>T (n.5870-3254C>T) | dbSNP |
2 | g.21002527G>C | CA345970256 | APOB | c.12895C>G (p.Leu4299Val) c.5870-3254C>G (n.5870-3254C>G) | |
2 | g.21002527G= | CA2493473023 | APOB | c.12895C= (p.Leu4299=) c.5870-3254C= (n.5870-3254C=) | |
2 | g.21002527G>T | CA345970257 | APOB | c.12895C>A (p.Leu4299Ile) c.5870-3254C>A (n.5870-3254C>A) | COSMIC |
2 | g.21002528A>C | CA345970258 | APOB | c.12894T>G (p.Asn4298Lys) c.5870-3255T>G (n.5870-3255T>G) | |
2 | g.21002528A>G | CA425342351 | APOB | c.12894T>C (p.Asn4298=) c.5870-3255T>C (n.5870-3255T>C) | |
2 | g.21002528A>T | CA345970259 | APOB | c.12894T>A (p.Asn4298Lys) c.5870-3255T>A (n.5870-3255T>A) | |
2 | g.21002529T>A | CA345970262 | APOB | c.12893A>T (p.Asn4298Ile) c.5870-3256A>T (n.5870-3256A>T) | dbSNP |
2 | g.21002529T>C | CA345970261 | APOB | c.12893A>G (p.Asn4298Ser) c.5870-3256A>G (n.5870-3256A>G) | |
2 | g.21002529T>G | CA345970260 | APOB | c.12893A>C (p.Asn4298Thr) c.5870-3256A>C (n.5870-3256A>C) | |
2 | g.21002529T= | CA2493473024 | APOB | c.12893A= (p.Asn4298=) c.5870-3256A= (n.5870-3256A=) | |
2 | g.21002530T>A | CA345970263 | APOB | c.12892A>T (p.Asn4298Tyr) c.5870-3257A>T (n.5870-3257A>T) | |
2 | g.21002530T>C | CA345970264 | APOB | c.12892A>G (p.Asn4298Asp) c.5870-3257A>G (n.5870-3257A>G) | |
2 | g.21002530T>G | CA345970265 | APOB | c.12892A>C (p.Asn4298His) c.5870-3257A>C (n.5870-3257A>C) | |
2 | g.21002531A>C | CA425342360 | APOB | c.12891T>G (p.Arg4297=) c.5870-3258T>G (n.5870-3258T>G) | |
2 | g.21002531A>G | CA425342359 | APOB | c.12891T>C (p.Arg4297=) c.5870-3258T>C (n.5870-3258T>C) | gnomAD v4 |
2 | g.21002531A>T | CA425342358 | APOB | c.12891T>A (p.Arg4297=) c.5870-3258T>A (n.5870-3258T>A) | |
2 | g.21002532C>A | CA345970266 | APOB | c.12890G>T (p.Arg4297Leu) c.5870-3259G>T (n.5870-3259G>T) | |
2 | g.21002532C= | CA2493473025 | APOB | c.12890G= (p.Arg4297=) c.5870-3259G= (n.5870-3259G=) | |
2 | g.21002532C>G | CA345970267 | APOB | c.12890G>C (p.Arg4297Pro) c.5870-3259G>C (n.5870-3259G>C) | |
2 | g.21002532C>T | CA43488391 | APOB | c.12890G>A (p.Arg4297His) c.5870-3259G>A (n.5870-3259G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002533G>A | CA051437 | APOB | c.12889C>T (p.Arg4297Cys) c.5870-3260C>T (n.5870-3260C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002533G>C | CA345970268 | APOB | c.12889C>G (p.Arg4297Gly) c.5870-3260C>G (n.5870-3260C>G) | |
2 | g.21002533G= | CA2493473026 | APOB | c.12889C= (p.Arg4297=) c.5870-3260C= (n.5870-3260C=) | |
2 | g.21002533G>T | CA345970269 | APOB | c.12889C>A (p.Arg4297Ser) c.5870-3260C>A (n.5870-3260C>A) | |
2 | g.21002534T>A | CA425342367 | APOB | c.12888A>T (p.Leu4296=) c.5870-3261A>T (n.5870-3261A>T) | |
2 | g.21002534T>C | CA425342366 | APOB | c.12888A>G (p.Leu4296=) c.5870-3261A>G (n.5870-3261A>G) | ClinVar |
2 | g.21002534T>G | CA425342365 | APOB | c.12888A>C (p.Leu4296=) c.5870-3261A>C (n.5870-3261A>C) | |
2 | g.21002534T= | CA2493473027 | APOB | c.12888A= (p.Leu4296=) c.5870-3261A= (n.5870-3261A=) | |
2 | g.21002535A>C | CA345970270 | APOB | c.12887T>G (p.Leu4296Arg) c.5870-3262T>G (n.5870-3262T>G) | |
2 | g.21002535A>G | CA345970271 | APOB | c.12887T>C (p.Leu4296Pro) c.5870-3262T>C (n.5870-3262T>C) | |
2 | g.21002535A>T | CA345970272 | APOB | c.12887T>A (p.Leu4296Gln) c.5870-3262T>A (n.5870-3262T>A) | |
2 | g.21002535dup | CA2493473028 | APOB | c.12887dup (p.Arg4297ThrfsTer2) c.5870-3262dup (n.5870-3262dup) | dbSNP |
2 | g.21002536G>A | CA425342372 | APOB | c.12886C>T (p.Leu4296=) c.5870-3263C>T (n.5870-3263C>T) | dbSNP gnomAD v4 |
2 | g.21002536G>C | CA345970274 | APOB | c.12886C>G (p.Leu4296Val) c.5870-3263C>G (n.5870-3263C>G) | |
2 | g.21002536G= | CA2493473029 | APOB | c.12886C= (p.Leu4296=) c.5870-3263C= (n.5870-3263C=) | |
2 | g.21002536G>T | CA345970273 | APOB | c.12886C>A (p.Leu4296Ile) c.5870-3263C>A (n.5870-3263C>A) | |
2 | g.21002537C>A | CA051427 | APOB | c.12885G>T (p.Val4295=) c.5870-3264G>T (n.5870-3264G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002537C= | CA2493473030 | APOB | c.12885G= (p.Val4295=) c.5870-3264G= (n.5870-3264G=) | |
2 | g.21002537C>G | CA425342373 | APOB | c.12885G>C (p.Val4295=) c.5870-3264G>C (n.5870-3264G>C) | ClinVar |
2 | g.21002537C>T | CA43488412 | APOB | c.12885G>A (p.Val4295=) c.5870-3264G>A (n.5870-3264G>A) | ClinVar dbSNP |
2 | g.21002538A= | CA2493473031 | APOB | c.12884T= (p.Val4295=) c.5870-3265T= (n.5870-3265T=) | |
2 | g.21002538A>C | CA345970275 | APOB | c.12884T>G (p.Val4295Gly) c.5870-3265T>G (n.5870-3265T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002538A>G | CA345970276 | APOB | c.12884T>C (p.Val4295Ala) c.5870-3265T>C (n.5870-3265T>C) | |
2 | g.21002538A>T | CA345970277 | APOB | c.12884T>A (p.Val4295Glu) c.5870-3265T>A (n.5870-3265T>A) | |
2 | g.21002539C>A | CA345970278 | APOB | c.12883G>T (p.Val4295Leu) c.5870-3266G>T (n.5870-3266G>T) | |
2 | g.21002539C>G | CA345970279 | APOB | c.12883G>C (p.Val4295Leu) c.5870-3266G>C (n.5870-3266G>C) | |
2 | g.21002539C>T | CA345970280 | APOB | c.12883G>A (p.Val4295Met) c.5870-3266G>A (n.5870-3266G>A) | |
2 | g.21002540C>A | CA345970281 | APOB | c.12882G>T (p.Glu4294Asp) c.5870-3267G>T (n.5870-3267G>T) | |
2 | g.21002540C= | CA2493473032 | APOB | c.12882G= (p.Glu4294=) c.5870-3267G= (n.5870-3267G=) | |
2 | g.21002540C>G | CA345970282 | APOB | c.12882G>C (p.Glu4294Asp) c.5870-3267G>C (n.5870-3267G>C) | dbSNP gnomAD v4 |
2 | g.21002540C>T | CA051413 | APOB | c.12882G>A (p.Glu4294=) c.5870-3267G>A (n.5870-3267G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002541T>A | CA345970283 | APOB | c.12881A>T (p.Glu4294Val) c.5870-3268A>T (n.5870-3268A>T) | |
2 | g.21002541T>C | CA345970284 | APOB | c.12881A>G (p.Glu4294Gly) c.5870-3268A>G (n.5870-3268A>G) | gnomAD v4 |
2 | g.21002541T>G | CA345970285 | APOB | c.12881A>C (p.Glu4294Ala) c.5870-3268A>C (n.5870-3268A>C) | |
2 | g.21002542C>A | CA345970288 | APOB | c.12880G>T (p.Glu4294Ter) c.5870-3269G>T (n.5870-3269G>T) | |
2 | g.21002542C= | CA2493473033 | APOB | c.12880G= (p.Glu4294=) c.5870-3269G= (n.5870-3269G=) | |
2 | g.21002542C>G | CA345970286 | APOB | c.12880G>C (p.Glu4294Gln) c.5870-3269G>C (n.5870-3269G>C) | dbSNP gnomAD v4 |
2 | g.21002542C>T | CA345970287 | APOB | c.12880G>A (p.Glu4294Lys) c.5870-3269G>A (n.5870-3269G>A) | COSMIC |
2 | g.21002543T>A | CA425342384 | APOB | c.12879A>T (p.Thr4293=) c.5870-3270A>T (n.5870-3270A>T) | |
2 | g.21002543T>C | CA425342386 | APOB | c.12879A>G (p.Thr4293=) c.5870-3270A>G (n.5870-3270A>G) | |
2 | g.21002543T>G | CA425342385 | APOB | c.12879A>C (p.Thr4293=) c.5870-3270A>C (n.5870-3270A>C) | |
2 | g.21002544G>A | CA345970289 | APOB | c.12878C>T (p.Thr4293Ile) c.5870-3271C>T (n.5870-3271C>T) | |
2 | g.21002544G>C | CA345970290 | APOB | c.12878C>G (p.Thr4293Arg) c.5870-3271C>G (n.5870-3271C>G) | |
2 | g.21002544G>T | CA345970291 | APOB | c.12878C>A (p.Thr4293Lys) c.5870-3271C>A (n.5870-3271C>A) | |
2 | g.21002545T>A | CA345970292 | APOB | c.12877A>T (p.Thr4293Ser) c.5870-3272A>T (n.5870-3272A>T) | gnomAD v4 |
2 | g.21002545T>C | CA345970293 | APOB | c.12877A>G (p.Thr4293Ala) c.5870-3272A>G (n.5870-3272A>G) | gnomAD v4 |
2 | g.21002545T>G | CA345970294 | APOB | c.12877A>C (p.Thr4293Pro) c.5870-3272A>C (n.5870-3272A>C) | |
2 | g.21002545T= | CA2493473034 | APOB | c.12877A= (p.Thr4293=) c.5870-3272A= (n.5870-3272A=) | |
2 | g.21002545_21002546insAATTCA | CA051386 | APOB | c.12876_12877insTGAATT c.5870-3273_5870-3272insTGAATT (n.5870-3273_5870-3272insTGAATT) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002546G>A | CA051396 | APOB | c.12876C>T (p.Thr4292=) c.5870-3273C>T (n.5870-3273C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.21002546G>C | CA425342393 | APOB | c.12876C>G (p.Thr4292=) c.5870-3273C>G (n.5870-3273C>G) | COSMIC |
2 | g.21002546G= | CA2493473035 | APOB | c.12876C= (p.Thr4292=) c.5870-3273C= (n.5870-3273C=) | |
2 | g.21002546G>T | CA43488435 | APOB | c.12876C>A (p.Thr4292=) c.5870-3273C>A (n.5870-3273C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21002546_21002547insTCTTGAGAGCATTCA | CA1546523 | APOB | c.12875_12876insTGAATGCTCTCAAGA (p.Thr4292_Thr4293insGluCysSerGlnAsp) c.5870-3274_5870-3273insTGAATGCTCTCAAGA (n.5870-3274_5870-3273insTGAATGCTCTCAAGA) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21002547G>A | CA43488447 | APOB | c.12875C>T (p.Thr4292Ile) c.5870-3274C>T (n.5870-3274C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21002547G>C | CA345970295 | APOB | c.12875C>G (p.Thr4292Ser) c.5870-3274C>G (n.5870-3274C>G) | dbSNP |
2 | g.21002547G= | CA2493473036 | APOB | c.12875C= (p.Thr4292=) c.5870-3274C= (n.5870-3274C=) | |
2 | g.21002547G>T | CA345970296 | APOB | c.12875C>A (p.Thr4292Asn) c.5870-3274C>A (n.5870-3274C>A) | |
2 | g.21002548T>A | CA345970298 | APOB | c.12874A>T (p.Thr4292Ser) c.5870-3275A>T (n.5870-3275A>T) | |
2 | g.21002548T>C | CA345970299 | APOB | c.12874A>G (p.Thr4292Ala) c.5870-3275A>G (n.5870-3275A>G) | dbSNP gnomAD v4 |
2 | g.21002548T>G | CA345970297 | APOB | c.12874A>C (p.Thr4292Pro) c.5870-3275A>C (n.5870-3275A>C) | |
2 | g.21002548T= | CA2493473037 | APOB | c.12874A= (p.Thr4292=) c.5870-3275A= (n.5870-3275A=) | |
2 | g.21002549C>A | CA345970301 | APOB | c.12873G>T (p.Lys4291Asn) c.5870-3276G>T (n.5870-3276G>T) | gnomAD v4 |
2 | g.21002549C>G | CA345970300 | APOB | c.12873G>C (p.Lys4291Asn) c.5870-3276G>C (n.5870-3276G>C) | |
2 | g.21002549C>T | CA425342400 | APOB | c.12873G>A (p.Lys4291=) c.5870-3276G>A (n.5870-3276G>A) | gnomAD v4 |
2 | g.21002550T>A | CA345970304 | APOB | c.12872A>T (p.Lys4291Met) c.5870-3277A>T (n.5870-3277A>T) | |
2 | g.21002550T>C | CA345970302 | APOB | c.12872A>G (p.Lys4291Arg) c.5870-3277A>G (n.5870-3277A>G) | gnomAD v4 |
2 | g.21002550T>G | CA345970303 | APOB | c.12872A>C (p.Lys4291Thr) c.5870-3277A>C (n.5870-3277A>C) | |
2 | g.21002551T>A | CA345970305 | APOB | c.12871A>T (p.Lys4291Ter) c.5870-3278A>T (n.5870-3278A>T) | |
2 | g.21002551T>C | CA345970306 | APOB | c.12871A>G (p.Lys4291Glu) c.5870-3278A>G (n.5870-3278A>G) | |
2 | g.21002551T>G | CA345970307 | APOB | c.12871A>C (p.Lys4291Gln) c.5870-3278A>C (n.5870-3278A>C) | |
2 | g.21002552G>A | CA425342407 | APOB | c.12870C>T (p.Leu4290=) c.5870-3279C>T (n.5870-3279C>T) | gnomAD v4 |
2 | g.21002552G>C | CA425342406 | APOB | c.12870C>G (p.Leu4290=) c.5870-3279C>G (n.5870-3279C>G) | |
2 | g.21002552G>T | CA425342405 | APOB | c.12870C>A (p.Leu4290=) c.5870-3279C>A (n.5870-3279C>A) | |
2 | g.21002556_21002557del | CA645535040 | APOB | c.12869_12870del (p.Leu4290GlnfsTer8) c.5870-3280_5870-3279del (n.5870-3280_5870-3279del) | COSMIC |
2 | g.21002553A>C | CA345970308 | APOB | c.12869T>G (p.Leu4290Arg) c.5870-3280T>G (n.5870-3280T>G) | |
2 | g.21002553A>G | CA345970309 | APOB | c.12869T>C (p.Leu4290Pro) c.5870-3280T>C (n.5870-3280T>C) | |
2 | g.21002553A>T | CA345970310 | APOB | c.12869T>A (p.Leu4290His) c.5870-3280T>A (n.5870-3280T>A) | |
2 | g.21002554G>A | CA345970311 | APOB | c.12868C>T (p.Leu4290Phe) c.5870-3281C>T (n.5870-3281C>T) | |
2 | g.21002554G>C | CA345970312 | APOB | c.12868C>G (p.Leu4290Val) c.5870-3281C>G (n.5870-3281C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21002554G= | CA2493473038 | APOB | c.12868C= (p.Leu4290=) c.5870-3281C= (n.5870-3281C=) | |
2 | g.21002554G>T | CA345970313 | APOB | c.12868C>A (p.Leu4290Ile) c.5870-3281C>A (n.5870-3281C>A) | |
2 | g.21002555A>C | CA425342409 | APOB | c.12867T>G (p.Ser4289=) c.5870-3282T>G (n.5870-3282T>G) | |
2 | g.21002555A>G | CA425342410 | APOB | c.12867T>C (p.Ser4289=) c.5870-3282T>C (n.5870-3282T>C) | |
2 | g.21002555A>T | CA425342411 | APOB | c.12867T>A (p.Ser4289=) c.5870-3282T>A (n.5870-3282T>A) | |
2 | g.21002556G>A | CA345970316 | APOB | c.12866C>T (p.Ser4289Phe) c.5870-3283C>T (n.5870-3283C>T) | |
2 | g.21002556G>C | CA345970315 | APOB | c.12866C>G (p.Ser4289Cys) c.5870-3283C>G (n.5870-3283C>G) | |
2 | g.21002556G>T | CA345970314 | APOB | c.12866C>A (p.Ser4289Tyr) c.5870-3283C>A (n.5870-3283C>A) | gnomAD v4 |
2 | g.21002557A>C | CA345970317 | APOB | c.12865T>G (p.Ser4289Ala) c.5870-3284T>G (n.5870-3284T>G) | |
2 | g.21002557A>G | CA345970318 | APOB | c.12865T>C (p.Ser4289Pro) c.5870-3284T>C (n.5870-3284T>C) | |
2 | g.21002557A>T | CA345970319 | APOB | c.12865T>A (p.Ser4289Thr) c.5870-3284T>A (n.5870-3284T>A) | |
2 | g.21002558C>A | CA345970320 | APOB | c.12864G>T (p.Gln4288His) c.5870-3285G>T (n.5870-3285G>T) | |
2 | g.21002558C= | CA2493473039 | APOB | c.12864G= (p.Gln4288=) c.5870-3285G= (n.5870-3285G=) | |
2 | g.21002558C>G | CA345970321 | APOB | c.12864G>C (p.Gln4288His) c.5870-3285G>C (n.5870-3285G>C) | |
2 | g.21002558C>T | CA425342413 | APOB | c.12864G>A (p.Gln4288=) c.5870-3285G>A (n.5870-3285G>A) | dbSNP gnomAD v3 gnomAD v4 |