| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50185650_50185778del | CA2809756914 | COL1A1 | c.4248+1_4249-1del c.3978+1_3979-1del c.3330+1_3331-1del c.4050+1_4051-1del | |
| 17 | g.50185758T>C | CA8644217 | COL1A1 | c.4248+20A>G (n.4248+20A>G) c.3978+20A>G (n.3978+20A>G) c.3330+20A>G (n.3330+20A>G) c.4050+20A>G (n.4050+20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185758T= | CA2263913834 | COL1A1 | c.4248+20A= (n.4248+20A=) c.3978+20A= (n.3978+20A=) c.3330+20A= (n.3330+20A=) c.4050+20A= (n.4050+20A=) | |
| 17 | g.50185760G>T | CA2638704605 | COL1A1 | c.4248+18C>A (n.4248+18C>A) c.3978+18C>A (n.3978+18C>A) c.3330+18C>A (n.3330+18C>A) c.4050+18C>A (n.4050+18C>A) | gnomAD v4 |
| 17 | g.50185761G>A | CA2556591589 | COL1A1 | c.4248+17C>T (n.4248+17C>T) c.3978+17C>T (n.3978+17C>T) c.3330+17C>T (n.3330+17C>T) c.4050+17C>T (n.4050+17C>T) | ClinVar gnomAD v4 |
| 17 | g.50185762G>A | CA772780298 | COL1A1 | c.4248+16C>T (n.4248+16C>T) c.3978+16C>T (n.3978+16C>T) c.3330+16C>T (n.3330+16C>T) c.4050+16C>T (n.4050+16C>T) | dbSNP |
| 17 | g.50185762G= | CA2263913835 | COL1A1 | c.4248+16C= (n.4248+16C=) c.3978+16C= (n.3978+16C=) c.3330+16C= (n.3330+16C=) c.4050+16C= (n.4050+16C=) | |
| 17 | g.50185762G>T | CA291542783 | COL1A1 | c.4248+16C>A (n.4248+16C>A) c.3978+16C>A (n.3978+16C>A) c.3330+16C>A (n.3330+16C>A) c.4050+16C>A (n.4050+16C>A) | dbSNP gnomAD v4 |
| 17 | g.50185764T>C | CA2638704609 | COL1A1 | c.4248+14A>G (n.4248+14A>G) c.3978+14A>G (n.3978+14A>G) c.3330+14A>G (n.3330+14A>G) c.4050+14A>G (n.4050+14A>G) | gnomAD v4 |
| 17 | g.50185765T>A | CA2263913837 | COL1A1 | c.4248+13A>T (n.4248+13A>T) c.3978+13A>T (n.3978+13A>T) c.3330+13A>T (n.3330+13A>T) c.4050+13A>T (n.4050+13A>T) | dbSNP |
| 17 | g.50185765T= | CA2263913836 | COL1A1 | c.4248+13A= (n.4248+13A=) c.3978+13A= (n.3978+13A=) c.3330+13A= (n.3330+13A=) c.4050+13A= (n.4050+13A=) | |
| 17 | g.50185766C>T | CA2576316981 | COL1A1 | c.4248+12G>A (n.4248+12G>A) c.3978+12G>A (n.3978+12G>A) c.3330+12G>A (n.3330+12G>A) c.4050+12G>A (n.4050+12G>A) | |
| 17 | g.50185767T>C | CA2809756938 | COL1A1 | c.4248+11A>G (n.4248+11A>G) c.3978+11A>G (n.3978+11A>G) c.3330+11A>G (n.3330+11A>G) c.4050+11A>G (n.4050+11A>G) | |
| 17 | g.50185770del | CA2638704611 | COL1A1 | c.4248+10del (n.4248+10del) c.3978+10del (n.3978+10del) c.3330+10del (n.3330+10del) c.4050+10del (n.4050+10del) | gnomAD v4 |
| 17 | g.50185769G>C | CA2638704613 | COL1A1 | c.4248+9C>G (n.4248+9C>G) c.3978+9C>G (n.3978+9C>G) c.3330+9C>G (n.3330+9C>G) c.4050+9C>G (n.4050+9C>G) | gnomAD v4 |
| 17 | g.50185774_50185777dup | CA2638704616 | COL1A1 | c.4248+4_4248+7dup (n.4248+4_4248+7dup) c.3978+4_3978+7dup (n.3978+4_3978+7dup) c.3330+4_3330+7dup (n.3330+4_3330+7dup) c.4050+4_4050+7dup (n.4050+4_4050+7dup) | gnomAD v4 |
| 17 | g.50185772A= | CA2263913838 | COL1A1 | c.4248+6T= (n.4248+6T=) c.3978+6T= (n.3978+6T=) c.3330+6T= (n.3330+6T=) c.4050+6T= (n.4050+6T=) | |
| 17 | g.50185772A>G | CA291542784 | COL1A1 | c.4248+6T>C (n.4248+6T>C) c.3978+6T>C (n.3978+6T>C) c.3330+6T>C (n.3330+6T>C) c.4050+6T>C (n.4050+6T>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50185773C>G | CA2580094164 | COL1A1 | c.4248+5G>C (n.4248+5G>C) c.3978+5G>C (n.3978+5G>C) c.3330+5G>C (n.3330+5G>C) c.4050+5G>C (n.4050+5G>C) | ClinVar gnomAD v4 |
| 17 | g.50185773C>T | CA2638704623 | COL1A1 | c.4248+5G>A (n.4248+5G>A) c.3978+5G>A (n.3978+5G>A) c.3330+5G>A (n.3330+5G>A) c.4050+5G>A (n.4050+5G>A) | gnomAD v4 |
| 17 | g.50185774T>C | CA8644218 | COL1A1 | c.4248+4A>G (n.4248+4A>G) c.3978+4A>G (n.3978+4A>G) c.3330+4A>G (n.3330+4A>G) c.4050+4A>G (n.4050+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185774T>G | CA2576316982 | COL1A1 | c.4248+4A>C (n.4248+4A>C) c.3978+4A>C (n.3978+4A>C) c.3330+4A>C (n.3330+4A>C) c.4050+4A>C (n.4050+4A>C) | gnomAD v4 |
| 17 | g.50185774T= | CA2263913839 | COL1A1 | c.4248+4A= (n.4248+4A=) c.3978+4A= (n.3978+4A=) c.3330+4A= (n.3330+4A=) c.4050+4A= (n.4050+4A=) | |
| 17 | g.50185775C>T | CA2739268222 | COL1A1 | c.4248+3G>A (n.4248+3G>A) c.3978+3G>A (n.3978+3G>A) c.3330+3G>A (n.3330+3G>A) c.4050+3G>A (n.4050+3G>A) | ClinVar |
| 17 | g.50185776A= | CA2263913840 | COL1A1 | c.4248+2T= (n.4248+2T=) c.3978+2T= (n.3978+2T=) c.3330+2T= (n.3330+2T=) c.4050+2T= (n.4050+2T=) | |
| 17 | g.50185776A>C | CA291542785 | COL1A1 | c.4248+2T>G (n.4248+2T>G) c.3978+2T>G (n.3978+2T>G) c.3330+2T>G (n.3330+2T>G) c.4050+2T>G (n.4050+2T>G) | dbSNP |
| 17 | g.50185776A>G | CA400191113 | COL1A1 | c.4248+2T>C (n.4248+2T>C) c.3978+2T>C (n.3978+2T>C) c.3330+2T>C (n.3330+2T>C) c.4050+2T>C (n.4050+2T>C) | ClinVar dbSNP |
| 17 | g.50185776A>T | CA291542786 | COL1A1 | c.4248+2T>A (n.4248+2T>A) c.3978+2T>A (n.3978+2T>A) c.3330+2T>A (n.3330+2T>A) c.4050+2T>A (n.4050+2T>A) | dbSNP |
| 17 | g.50185776_50185783delinsTG | CA2695226431 | COL1A1 | c.4243_4248+2delinsCA c.3973_3978+2delinsCA c.3325_3330+2delinsCA c.4045_4050+2delinsCA | |
| 17 | g.50185777C>A | CA400191129 | COL1A1 | c.4248+1G>T (n.4248+1G>T) c.3978+1G>T (n.3978+1G>T) c.3330+1G>T (n.3330+1G>T) c.4050+1G>T (n.4050+1G>T) | |
| 17 | g.50185777C= | CA2263913841 | COL1A1 | c.4248+1G= (n.4248+1G=) c.3978+1G= (n.3978+1G=) c.3330+1G= (n.3330+1G=) c.4050+1G= (n.4050+1G=) | |
| 17 | g.50185777C>G | CA291542787 | COL1A1 | c.4248+1G>C (n.4248+1G>C) c.3978+1G>C (n.3978+1G>C) c.3330+1G>C (n.3330+1G>C) c.4050+1G>C (n.4050+1G>C) | dbSNP |
| 17 | g.50185777C>T | CA291542788 | COL1A1 | c.4248+1G>A (n.4248+1G>A) c.3978+1G>A (n.3978+1G>A) c.3330+1G>A (n.3330+1G>A) c.4050+1G>A (n.4050+1G>A) | ClinVar dbSNP |
| 17 | g.50185778C>A | CA500991506 | COL1A1 | c.4248G>T (p.Thr1416=) c.3978G>T (p.Thr1326=) c.3330G>T (p.Thr1110=) c.4050G>T (p.Thr1350=) | |
| 17 | g.50185778C= | CA2263913843 | COL1A1 | c.4248G= (p.Thr1416=) c.3978G= (p.Thr1326=) c.3330G= (p.Thr1110=) c.4050G= (p.Thr1350=) | |
| 17 | g.50185778C>G | CA500991507 | COL1A1 | c.4248G>C (p.Thr1416=) c.3978G>C (p.Thr1326=) c.3330G>C (p.Thr1110=) c.4050G>C (p.Thr1350=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185778C>T | CA8644219 | COL1A1 | c.4248G>A (p.Thr1416=) c.3978G>A (p.Thr1326=) c.3330G>A (p.Thr1110=) c.4050G>A (p.Thr1350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185778_50185779delinsCG | CA2263913842 | COL1A1 | c.4247_4248delinsCG (p.Thr1416=) c.3977_3978delinsCG (p.Thr1326=) c.3329_3330delinsCG (p.Thr1110=) c.4049_4050delinsCG (p.Thr1350=) | |
| 17 | g.50185780_50185790dup | CA2695226432 | COL1A1 | c.4238_4248dup (p.Ser1417MetfsTer14) c.3968_3978dup (p.Ser1327MetfsTer14) c.3320_3330dup (p.Ser1111MetfsTer14) c.4040_4050dup (p.Ser1351MetfsTer14) | |
| 17 | g.50185779del | CA261265 | COL1A1 | c.4247del (p.Thr1416ArgfsTer11) c.3977del (p.Thr1326ArgfsTer11) c.3329del (p.Thr1110ArgfsTer11) c.4049del (p.Thr1350ArgfsTer11) | ClinVar dbSNP |
| 17 | g.50185779G>A | CA400191138 | COL1A1 | c.4247C>T (p.Thr1416Met) c.3977C>T (p.Thr1326Met) c.3329C>T (p.Thr1110Met) c.4049C>T (p.Thr1350Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.50185779G>C | CA400191143 | COL1A1 | c.4247C>G (p.Thr1416Arg) c.3977C>G (p.Thr1326Arg) c.3329C>G (p.Thr1110Arg) c.4049C>G (p.Thr1350Arg) | |
| 17 | g.50185779G= | CA2263913844 | COL1A1 | c.4247C= (p.Thr1416=) c.3977C= (p.Thr1326=) c.3329C= (p.Thr1110=) c.4049C= (p.Thr1350=) | |
| 17 | g.50185779G>T | CA400191146 | COL1A1 | c.4247C>A (p.Thr1416Lys) c.3977C>A (p.Thr1326Lys) c.3329C>A (p.Thr1110Lys) c.4049C>A (p.Thr1350Lys) | |
| 17 | g.50185780T>A | CA400191153 | COL1A1 | c.4246A>T (p.Thr1416Ser) c.3976A>T (p.Thr1326Ser) c.3328A>T (p.Thr1110Ser) c.4048A>T (p.Thr1350Ser) | |
| 17 | g.50185780T>C | CA400191157 | COL1A1 | c.4246A>G (p.Thr1416Ala) c.3976A>G (p.Thr1326Ala) c.3328A>G (p.Thr1110Ala) c.4048A>G (p.Thr1350Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185780T>G | CA400191162 | COL1A1 | c.4246A>C (p.Thr1416Pro) c.3976A>C (p.Thr1326Pro) c.3328A>C (p.Thr1110Pro) c.4048A>C (p.Thr1350Pro) | |
| 17 | g.50185780T= | CA2263913845 | COL1A1 | c.4246A= (p.Thr1416=) c.3976A= (p.Thr1326=) c.3328A= (p.Thr1110=) c.4048A= (p.Thr1350=) | |
| 17 | g.50185781G>A | CA500991509 | COL1A1 | c.4245C>T (p.Cys1415=) c.3975C>T (p.Cys1325=) c.3327C>T (p.Cys1109=) c.4047C>T (p.Cys1349=) | dbSNP |
| 17 | g.50185781G>C | CA400191167 | COL1A1 | c.4245C>G (p.Cys1415Trp) c.3975C>G (p.Cys1325Trp) c.3327C>G (p.Cys1109Trp) c.4047C>G (p.Cys1349Trp) | |
| 17 | g.50185781G= | CA2263913846 | COL1A1 | c.4245C= (p.Cys1415=) c.3975C= (p.Cys1325=) c.3327C= (p.Cys1109=) c.4047C= (p.Cys1349=) | |
| 17 | g.50185781G>T | CA400191169 | COL1A1 | c.4245C>A (p.Cys1415Ter) c.3975C>A (p.Cys1325Ter) c.3327C>A (p.Cys1109Ter) c.4047C>A (p.Cys1349Ter) | ClinVar dbSNP |
| 17 | g.50185782C>A | CA400191176 | COL1A1 | c.4244G>T (p.Cys1415Phe) c.3974G>T (p.Cys1325Phe) c.3326G>T (p.Cys1109Phe) c.4046G>T (p.Cys1349Phe) | COSMIC |
| 17 | g.50185782C>G | CA400191179 | COL1A1 | c.4244G>C (p.Cys1415Ser) c.3974G>C (p.Cys1325Ser) c.3326G>C (p.Cys1109Ser) c.4046G>C (p.Cys1349Ser) | |
| 17 | g.50185782C>T | CA400191184 | COL1A1 | c.4244G>A (p.Cys1415Tyr) c.3974G>A (p.Cys1325Tyr) c.3326G>A (p.Cys1109Tyr) c.4046G>A (p.Cys1349Tyr) | |
| 17 | g.50185783A>C | CA400191189 | COL1A1 | c.4243T>G (p.Cys1415Gly) c.3973T>G (p.Cys1325Gly) c.3325T>G (p.Cys1109Gly) c.4045T>G (p.Cys1349Gly) | |
| 17 | g.50185783A>G | CA400191192 | COL1A1 | c.4243T>C (p.Cys1415Arg) c.3973T>C (p.Cys1325Arg) c.3325T>C (p.Cys1109Arg) c.4045T>C (p.Cys1349Arg) | |
| 17 | g.50185783A>T | CA400191191 | COL1A1 | c.4243T>A (p.Cys1415Ser) c.3973T>A (p.Cys1325Ser) c.3325T>A (p.Cys1109Ser) c.4045T>A (p.Cys1349Ser) | |
| 17 | g.50185784G>A | CA500991513 | COL1A1 | c.4242C>T (p.Gly1414=) c.3972C>T (p.Gly1324=) c.3324C>T (p.Gly1108=) c.4044C>T (p.Gly1348=) | ClinVar |
| 17 | g.50185784G>C | CA500991514 | COL1A1 | c.4242C>G (p.Gly1414=) c.3972C>G (p.Gly1324=) c.3324C>G (p.Gly1108=) c.4044C>G (p.Gly1348=) | |
| 17 | g.50185784G>T | CA500991515 | COL1A1 | c.4242C>A (p.Gly1414=) c.3972C>A (p.Gly1324=) c.3324C>A (p.Gly1108=) c.4044C>A (p.Gly1348=) | |
| 17 | g.50185785C>A | CA400191199 | COL1A1 | c.4241G>T (p.Gly1414Val) c.3971G>T (p.Gly1324Val) c.3323G>T (p.Gly1108Val) c.4043G>T (p.Gly1348Val) | ClinVar |
| 17 | g.50185785C= | CA2263913847 | COL1A1 | c.4241G= (p.Gly1414=) c.3971G= (p.Gly1324=) c.3323G= (p.Gly1108=) c.4043G= (p.Gly1348=) | |
| 17 | g.50185785C>G | CA400191208 | COL1A1 | c.4241G>C (p.Gly1414Ala) c.3971G>C (p.Gly1324Ala) c.3323G>C (p.Gly1108Ala) c.4043G>C (p.Gly1348Ala) | |
| 17 | g.50185785C>T | CA400191211 | COL1A1 | c.4241G>A (p.Gly1414Asp) c.3971G>A (p.Gly1324Asp) c.3323G>A (p.Gly1108Asp) c.4043G>A (p.Gly1348Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185786C>A | CA400191215 | COL1A1 | c.4240G>T (p.Gly1414Cys) c.3970G>T (p.Gly1324Cys) c.3322G>T (p.Gly1108Cys) c.4042G>T (p.Gly1348Cys) | |
| 17 | g.50185786C>G | CA400191218 | COL1A1 | c.4240G>C (p.Gly1414Arg) c.3970G>C (p.Gly1324Arg) c.3322G>C (p.Gly1108Arg) c.4042G>C (p.Gly1348Arg) | |
| 17 | g.50185786C>T | CA400191222 | COL1A1 | c.4240G>A (p.Gly1414Ser) c.3970G>A (p.Gly1324Ser) c.3322G>A (p.Gly1108Ser) c.4042G>A (p.Gly1348Ser) | |
| 17 | g.50185787A= | CA2263913848 | COL1A1 | c.4239T= (p.Asp1413=) c.3969T= (p.Asp1323=) c.3321T= (p.Asp1107=) c.4041T= (p.Asp1347=) | |
| 17 | g.50185787A>C | CA400191228 | COL1A1 | c.4239T>G (p.Asp1413Glu) c.3969T>G (p.Asp1323Glu) c.3321T>G (p.Asp1107Glu) c.4041T>G (p.Asp1347Glu) | |
| 17 | g.50185787A>G | CA8644220 | COL1A1 | c.4239T>C (p.Asp1413=) c.3969T>C (p.Asp1323=) c.3321T>C (p.Asp1107=) c.4041T>C (p.Asp1347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185787A>T | CA400191234 | COL1A1 | c.4239T>A (p.Asp1413Glu) c.3969T>A (p.Asp1323Glu) c.3321T>A (p.Asp1107Glu) c.4041T>A (p.Asp1347Glu) | ClinVar dbSNP |
| 17 | g.50185788T>A | CA400191238 | COL1A1 | c.4238A>T (p.Asp1413Val) c.3968A>T (p.Asp1323Val) c.3320A>T (p.Asp1107Val) c.4040A>T (p.Asp1347Val) | |
| 17 | g.50185788T>C | CA400191242 | COL1A1 | c.4238A>G (p.Asp1413Gly) c.3968A>G (p.Asp1323Gly) c.3320A>G (p.Asp1107Gly) c.4040A>G (p.Asp1347Gly) | ClinVar dbSNP |
| 17 | g.50185788T>G | CA400191245 | COL1A1 | c.4238A>C (p.Asp1413Ala) c.3968A>C (p.Asp1323Ala) c.3320A>C (p.Asp1107Ala) c.4040A>C (p.Asp1347Ala) | |
| 17 | g.50185789C>A | CA400191258 | COL1A1 | c.4237G>T (p.Asp1413Tyr) c.3967G>T (p.Asp1323Tyr) c.3319G>T (p.Asp1107Tyr) c.4039G>T (p.Asp1347Tyr) | |
| 17 | g.50185789C= | CA2263913849 | COL1A1 | c.4237G= (p.Asp1413=) c.3967G= (p.Asp1323=) c.3319G= (p.Asp1107=) c.4039G= (p.Asp1347=) | |
| 17 | g.50185789C>G | CA400191252 | COL1A1 | c.4237G>C (p.Asp1413His) c.3967G>C (p.Asp1323His) c.3319G>C (p.Asp1107His) c.4039G>C (p.Asp1347His) | |
| 17 | g.50185789C>T | CA291542789 | COL1A1 | c.4237G>A (p.Asp1413Asn) c.3967G>A (p.Asp1323Asn) c.3319G>A (p.Asp1107Asn) c.4039G>A (p.Asp1347Asn) | ClinVar dbSNP |
| 17 | g.50185791_50185799del | CA2695226436 | COL1A1 | c.4229_4237del (p.Val1410_Val1412del) c.3959_3967del (p.Val1320_Val1322del) c.3311_3319del (p.Val1104_Val1106del) c.4031_4039del (p.Val1344_Val1346del) | |
| 17 | g.50185790G>A | CA8644221 | COL1A1 | c.4236C>T (p.Val1412=) c.3966C>T (p.Val1322=) c.3318C>T (p.Val1106=) c.4038C>T (p.Val1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185790G>C | CA500991520 | COL1A1 | c.4236C>G (p.Val1412=) c.3966C>G (p.Val1322=) c.3318C>G (p.Val1106=) c.4038C>G (p.Val1346=) | gnomAD v4 |
| 17 | g.50185790G= | CA2263913850 | COL1A1 | c.4236C= (p.Val1412=) c.3966C= (p.Val1322=) c.3318C= (p.Val1106=) c.4038C= (p.Val1346=) | |
| 17 | g.50185790G>T | CA8644222 | COL1A1 | c.4236C>A (p.Val1412=) c.3966C>A (p.Val1322=) c.3318C>A (p.Val1106=) c.4038C>A (p.Val1346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185791A= | CA2263913851 | COL1A1 | c.4235T= (p.Val1412=) c.3965T= (p.Val1322=) c.3317T= (p.Val1106=) c.4037T= (p.Val1346=) | |
| 17 | g.50185791A>C | CA400191274 | COL1A1 | c.4235T>G (p.Val1412Gly) c.3965T>G (p.Val1322Gly) c.3317T>G (p.Val1106Gly) c.4037T>G (p.Val1346Gly) | |
| 17 | g.50185791A>G | CA400191279 | COL1A1 | c.4235T>C (p.Val1412Ala) c.3965T>C (p.Val1322Ala) c.3317T>C (p.Val1106Ala) c.4037T>C (p.Val1346Ala) | dbSNP gnomAD v4 |
| 17 | g.50185791A>T | CA400191281 | COL1A1 | c.4235T>A (p.Val1412Asp) c.3965T>A (p.Val1322Asp) c.3317T>A (p.Val1106Asp) c.4037T>A (p.Val1346Asp) | |
| 17 | g.50185792C>A | CA400191286 | COL1A1 | c.4234G>T (p.Val1412Phe) c.3964G>T (p.Val1322Phe) c.3316G>T (p.Val1106Phe) c.4036G>T (p.Val1346Phe) | |
| 17 | g.50185792C= | CA2263913852 | COL1A1 | c.4234G= (p.Val1412=) c.3964G= (p.Val1322=) c.3316G= (p.Val1106=) c.4036G= (p.Val1346=) | |
| 17 | g.50185792C>G | CA400191292 | COL1A1 | c.4234G>C (p.Val1412Leu) c.3964G>C (p.Val1322Leu) c.3316G>C (p.Val1106Leu) c.4036G>C (p.Val1346Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185792C>T | CA400191294 | COL1A1 | c.4234G>A (p.Val1412Ile) c.3964G>A (p.Val1322Ile) c.3316G>A (p.Val1106Ile) c.4036G>A (p.Val1346Ile) | |
| 17 | g.50185793A>C | CA500991522 | COL1A1 | c.4233T>G (p.Thr1411=) c.3963T>G (p.Thr1321=) c.3315T>G (p.Thr1105=) c.4035T>G (p.Thr1345=) | |
| 17 | g.50185793A>G | CA500991523 | COL1A1 | c.4233T>C (p.Thr1411=) c.3963T>C (p.Thr1321=) c.3315T>C (p.Thr1105=) c.4035T>C (p.Thr1345=) | |
| 17 | g.50185793A>T | CA500991524 | COL1A1 | c.4233T>A (p.Thr1411=) c.3963T>A (p.Thr1321=) c.3315T>A (p.Thr1105=) c.4035T>A (p.Thr1345=) | |
| 17 | g.50185794G>A | CA400191299 | COL1A1 | c.4232C>T (p.Thr1411Ile) c.3962C>T (p.Thr1321Ile) c.3314C>T (p.Thr1105Ile) c.4034C>T (p.Thr1345Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185794G>C | CA400191304 | COL1A1 | c.4232C>G (p.Thr1411Ser) c.3962C>G (p.Thr1321Ser) c.3314C>G (p.Thr1105Ser) c.4034C>G (p.Thr1345Ser) | |
| 17 | g.50185794G= | CA2263913853 | COL1A1 | c.4232C= (p.Thr1411=) c.3962C= (p.Thr1321=) c.3314C= (p.Thr1105=) c.4034C= (p.Thr1345=) | |
| 17 | g.50185794G>T | CA400191307 | COL1A1 | c.4232C>A (p.Thr1411Asn) c.3962C>A (p.Thr1321Asn) c.3314C>A (p.Thr1105Asn) c.4034C>A (p.Thr1345Asn) | gnomAD v4 |
| 17 | g.50185795T>A | CA400191334 | COL1A1 | c.4231A>T (p.Thr1411Ser) c.3961A>T (p.Thr1321Ser) c.3313A>T (p.Thr1105Ser) c.4033A>T (p.Thr1345Ser) | |
| 17 | g.50185795T>C | CA400191328 | COL1A1 | c.4231A>G (p.Thr1411Ala) c.3961A>G (p.Thr1321Ala) c.3313A>G (p.Thr1105Ala) c.4033A>G (p.Thr1345Ala) | |
| 17 | g.50185795T>G | CA400191323 | COL1A1 | c.4231A>C (p.Thr1411Pro) c.3961A>C (p.Thr1321Pro) c.3313A>C (p.Thr1105Pro) c.4033A>C (p.Thr1345Pro) | |
| 17 | g.50185796G>A | CA500991527 | COL1A1 | c.4230C>T (p.Val1410=) c.3960C>T (p.Val1320=) c.3312C>T (p.Val1104=) c.4032C>T (p.Val1344=) | gnomAD v4 |
| 17 | g.50185796G>C | CA500991526 | COL1A1 | c.4230C>G (p.Val1410=) c.3960C>G (p.Val1320=) c.3312C>G (p.Val1104=) c.4032C>G (p.Val1344=) | |
| 17 | g.50185796G>T | CA500991528 | COL1A1 | c.4230C>A (p.Val1410=) c.3960C>A (p.Val1320=) c.3312C>A (p.Val1104=) c.4032C>A (p.Val1344=) | |
| 17 | g.50185797A>C | CA400191336 | COL1A1 | c.4229T>G (p.Val1410Gly) c.3959T>G (p.Val1320Gly) c.3311T>G (p.Val1104Gly) c.4031T>G (p.Val1344Gly) | |
| 17 | g.50185797A>G | CA400191345 | COL1A1 | c.4229T>C (p.Val1410Ala) c.3959T>C (p.Val1320Ala) c.3311T>C (p.Val1104Ala) c.4031T>C (p.Val1344Ala) | |
| 17 | g.50185797A>T | CA400191342 | COL1A1 | c.4229T>A (p.Val1410Asp) c.3959T>A (p.Val1320Asp) c.3311T>A (p.Val1104Asp) c.4031T>A (p.Val1344Asp) | |
| 17 | g.50185798C>A | CA400191350 | COL1A1 | c.4228G>T (p.Val1410Phe) c.3958G>T (p.Val1320Phe) c.3310G>T (p.Val1104Phe) c.4030G>T (p.Val1344Phe) | |
| 17 | g.50185798C= | CA2263913854 | COL1A1 | c.4228G= (p.Val1410=) c.3958G= (p.Val1320=) c.3310G= (p.Val1104=) c.4030G= (p.Val1344=) | |
| 17 | g.50185798C>G | CA400191355 | COL1A1 | c.4228G>C (p.Val1410Leu) c.3958G>C (p.Val1320Leu) c.3310G>C (p.Val1104Leu) c.4030G>C (p.Val1344Leu) | gnomAD v4 |
| 17 | g.50185798C>T | CA8644223 | COL1A1 | c.4228G>A (p.Val1410Ile) c.3958G>A (p.Val1320Ile) c.3310G>A (p.Val1104Ile) c.4030G>A (p.Val1344Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185799G>A | CA8644224 | COL1A1 | c.4227C>T (p.Ser1409=) c.3957C>T (p.Ser1319=) c.3309C>T (p.Ser1103=) c.4029C>T (p.Ser1343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185799G>C | CA400191366 | COL1A1 | c.4227C>G (p.Ser1409Arg) c.3957C>G (p.Ser1319Arg) c.3309C>G (p.Ser1103Arg) c.4029C>G (p.Ser1343Arg) | |
| 17 | g.50185799G= | CA2263913855 | COL1A1 | c.4227C= (p.Ser1409=) c.3957C= (p.Ser1319=) c.3309C= (p.Ser1103=) c.4029C= (p.Ser1343=) | |
| 17 | g.50185799G>T | CA400191370 | COL1A1 | c.4227C>A (p.Ser1409Arg) c.3957C>A (p.Ser1319Arg) c.3309C>A (p.Ser1103Arg) c.4029C>A (p.Ser1343Arg) | |
| 17 | g.50185800C>A | CA400191382 | COL1A1 | c.4226G>T (p.Ser1409Ile) c.3956G>T (p.Ser1319Ile) c.3308G>T (p.Ser1103Ile) c.4028G>T (p.Ser1343Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.50185800C= | CA2263913856 | COL1A1 | c.4226G= (p.Ser1409=) c.3956G= (p.Ser1319=) c.3308G= (p.Ser1103=) c.4028G= (p.Ser1343=) | |
| 17 | g.50185800C>G | CA400191386 | COL1A1 | c.4226G>C (p.Ser1409Thr) c.3956G>C (p.Ser1319Thr) c.3308G>C (p.Ser1103Thr) c.4028G>C (p.Ser1343Thr) | |
| 17 | g.50185800C>T | CA400191390 | COL1A1 | c.4226G>A (p.Ser1409Asn) c.3956G>A (p.Ser1319Asn) c.3308G>A (p.Ser1103Asn) c.4028G>A (p.Ser1343Asn) | gnomAD v4 |
| 17 | g.50185801T>A | CA400191395 | COL1A1 | c.4225A>T (p.Ser1409Cys) c.3955A>T (p.Ser1319Cys) c.3307A>T (p.Ser1103Cys) c.4027A>T (p.Ser1343Cys) | |
| 17 | g.50185801T>C | CA400191399 | COL1A1 | c.4225A>G (p.Ser1409Gly) c.3955A>G (p.Ser1319Gly) c.3307A>G (p.Ser1103Gly) c.4027A>G (p.Ser1343Gly) | dbSNP gnomAD v4 |
| 17 | g.50185801T>G | CA400191402 | COL1A1 | c.4225A>C (p.Ser1409Arg) c.3955A>C (p.Ser1319Arg) c.3307A>C (p.Ser1103Arg) c.4027A>C (p.Ser1343Arg) | |
| 17 | g.50185801T= | CA2263913857 | COL1A1 | c.4225A= (p.Ser1409=) c.3955A= (p.Ser1319=) c.3307A= (p.Ser1103=) c.4027A= (p.Ser1343=) | |
| 17 | g.50185802G>A | CA8644225 | COL1A1 | c.4224C>T (p.Tyr1408=) c.3954C>T (p.Tyr1318=) c.3306C>T (p.Tyr1102=) c.4026C>T (p.Tyr1342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185802G>C | CA400191405 | COL1A1 | c.4224C>G (p.Tyr1408Ter) c.3954C>G (p.Tyr1318Ter) c.3306C>G (p.Tyr1102Ter) c.4026C>G (p.Tyr1342Ter) | |
| 17 | g.50185802G= | CA2263913858 | COL1A1 | c.4224C= (p.Tyr1408=) c.3954C= (p.Tyr1318=) c.3306C= (p.Tyr1102=) c.4026C= (p.Tyr1342=) | |
| 17 | g.50185802G>T | CA400191409 | COL1A1 | c.4224C>A (p.Tyr1408Ter) c.3954C>A (p.Tyr1318Ter) c.3306C>A (p.Tyr1102Ter) c.4026C>A (p.Tyr1342Ter) | |
| 17 | g.50185803T>A | CA400191420 | COL1A1 | c.4223A>T (p.Tyr1408Phe) c.3953A>T (p.Tyr1318Phe) c.3305A>T (p.Tyr1102Phe) c.4025A>T (p.Tyr1342Phe) | |
| 17 | g.50185803T>C | CA400191423 | COL1A1 | c.4223A>G (p.Tyr1408Cys) c.3953A>G (p.Tyr1318Cys) c.3305A>G (p.Tyr1102Cys) c.4025A>G (p.Tyr1342Cys) | |
| 17 | g.50185803T>G | CA400191426 | COL1A1 | c.4223A>C (p.Tyr1408Ser) c.3953A>C (p.Tyr1318Ser) c.3305A>C (p.Tyr1102Ser) c.4025A>C (p.Tyr1342Ser) | |
| 17 | g.50185804A>C | CA400191432 | COL1A1 | c.4222T>G (p.Tyr1408Asp) c.3952T>G (p.Tyr1318Asp) c.3304T>G (p.Tyr1102Asp) c.4024T>G (p.Tyr1342Asp) | |
| 17 | g.50185804A>G | CA400191435 | COL1A1 | c.4222T>C (p.Tyr1408His) c.3952T>C (p.Tyr1318His) c.3304T>C (p.Tyr1102His) c.4024T>C (p.Tyr1342His) | |
| 17 | g.50185804A>T | CA400191437 | COL1A1 | c.4222T>A (p.Tyr1408Asn) c.3952T>A (p.Tyr1318Asn) c.3304T>A (p.Tyr1102Asn) c.4024T>A (p.Tyr1342Asn) | |
| 17 | g.50185805G>A | CA500991531 | COL1A1 | c.4221C>T (p.Thr1407=) c.3951C>T (p.Thr1317=) c.3303C>T (p.Thr1101=) c.4023C>T (p.Thr1341=) | |
| 17 | g.50185805G>C | CA500991532 | COL1A1 | c.4221C>G (p.Thr1407=) c.3951C>G (p.Thr1317=) c.3303C>G (p.Thr1101=) c.4023C>G (p.Thr1341=) | |
| 17 | g.50185805G>T | CA500991533 | COL1A1 | c.4221C>A (p.Thr1407=) c.3951C>A (p.Thr1317=) c.3303C>A (p.Thr1101=) c.4023C>A (p.Thr1341=) | |
| 17 | g.50185806G>A | CA400191442 | COL1A1 | c.4220C>T (p.Thr1407Ile) c.3950C>T (p.Thr1317Ile) c.3302C>T (p.Thr1101Ile) c.4022C>T (p.Thr1341Ile) | |
| 17 | g.50185806G>C | CA400191445 | COL1A1 | c.4220C>G (p.Thr1407Ser) c.3950C>G (p.Thr1317Ser) c.3302C>G (p.Thr1101Ser) c.4022C>G (p.Thr1341Ser) | |
| 17 | g.50185806G>T | CA400191449 | COL1A1 | c.4220C>A (p.Thr1407Asn) c.3950C>A (p.Thr1317Asn) c.3302C>A (p.Thr1101Asn) c.4022C>A (p.Thr1341Asn) | |
| 17 | g.50185807T>A | CA400191460 | COL1A1 | c.4219A>T (p.Thr1407Ser) c.3949A>T (p.Thr1317Ser) c.3301A>T (p.Thr1101Ser) c.4021A>T (p.Thr1341Ser) | |
| 17 | g.50185807T>C | CA400191463 | COL1A1 | c.4219A>G (p.Thr1407Ala) c.3949A>G (p.Thr1317Ala) c.3301A>G (p.Thr1101Ala) c.4021A>G (p.Thr1341Ala) | gnomAD v4 |
| 17 | g.50185807T>G | CA400191466 | COL1A1 | c.4219A>C (p.Thr1407Pro) c.3949A>C (p.Thr1317Pro) c.3301A>C (p.Thr1101Pro) c.4021A>C (p.Thr1341Pro) | |
| 17 | g.50185808G>A | CA500991537 | COL1A1 | c.4218C>T (p.Phe1406=) c.3948C>T (p.Phe1316=) c.3300C>T (p.Phe1100=) c.4020C>T (p.Phe1340=) | gnomAD v4 |
| 17 | g.50185808G>C | CA400191472 | COL1A1 | c.4218C>G (p.Phe1406Leu) c.3948C>G (p.Phe1316Leu) c.3300C>G (p.Phe1100Leu) c.4020C>G (p.Phe1340Leu) | |
| 17 | g.50185808G>T | CA400191475 | COL1A1 | c.4218C>A (p.Phe1406Leu) c.3948C>A (p.Phe1316Leu) c.3300C>A (p.Phe1100Leu) c.4020C>A (p.Phe1340Leu) | gnomAD v4 |
| 17 | g.50185809A>C | CA400191488 | COL1A1 | c.4217T>G (p.Phe1406Cys) c.3947T>G (p.Phe1316Cys) c.3299T>G (p.Phe1100Cys) c.4019T>G (p.Phe1340Cys) | |
| 17 | g.50185809A>G | CA400191492 | COL1A1 | c.4217T>C (p.Phe1406Ser) c.3947T>C (p.Phe1316Ser) c.3299T>C (p.Phe1100Ser) c.4019T>C (p.Phe1340Ser) | |
| 17 | g.50185809A>T | CA400191495 | COL1A1 | c.4217T>A (p.Phe1406Tyr) c.3947T>A (p.Phe1316Tyr) c.3299T>A (p.Phe1100Tyr) c.4019T>A (p.Phe1340Tyr) | gnomAD v4 |
| 17 | g.50185810A>C | CA400191499 | COL1A1 | c.4216T>G (p.Phe1406Val) c.3946T>G (p.Phe1316Val) c.3298T>G (p.Phe1100Val) c.4018T>G (p.Phe1340Val) | |
| 17 | g.50185810A>G | CA400191501 | COL1A1 | c.4216T>C (p.Phe1406Leu) c.3946T>C (p.Phe1316Leu) c.3298T>C (p.Phe1100Leu) c.4018T>C (p.Phe1340Leu) | |
| 17 | g.50185810A>T | CA400191504 | COL1A1 | c.4216T>A (p.Phe1406Ile) c.3946T>A (p.Phe1316Ile) c.3298T>A (p.Phe1100Ile) c.4018T>A (p.Phe1340Ile) | |
| 17 | g.50185811G>A | CA500991538 | COL1A1 | c.4215C>T (p.Arg1405=) c.3945C>T (p.Arg1315=) c.3297C>T (p.Arg1099=) c.4017C>T (p.Arg1339=) | dbSNP gnomAD v4 |
| 17 | g.50185811G>C | CA500991539 | COL1A1 | c.4215C>G (p.Arg1405=) c.3945C>G (p.Arg1315=) c.3297C>G (p.Arg1099=) c.4017C>G (p.Arg1339=) | |
| 17 | g.50185811G= | CA2263913859 | COL1A1 | c.4215C= (p.Arg1405=) c.3945C= (p.Arg1315=) c.3297C= (p.Arg1099=) c.4017C= (p.Arg1339=) | |
| 17 | g.50185811G>T | CA500991540 | COL1A1 | c.4215C>A (p.Arg1405=) c.3945C>A (p.Arg1315=) c.3297C>A (p.Arg1099=) c.4017C>A (p.Arg1339=) | dbSNP |
| 17 | g.50185812C>A | CA400191507 | COL1A1 | c.4214G>T (p.Arg1405Leu) c.3944G>T (p.Arg1315Leu) c.3296G>T (p.Arg1099Leu) c.4016G>T (p.Arg1339Leu) | |
| 17 | g.50185812C= | CA2263913860 | COL1A1 | c.4214G= (p.Arg1405=) c.3944G= (p.Arg1315=) c.3296G= (p.Arg1099=) c.4016G= (p.Arg1339=) | |
| 17 | g.50185812C>G | CA400191512 | COL1A1 | c.4214G>C (p.Arg1405Pro) c.3944G>C (p.Arg1315Pro) c.3296G>C (p.Arg1099Pro) c.4016G>C (p.Arg1339Pro) | gnomAD v4 |
| 17 | g.50185812C>T | CA8644226 | COL1A1 | c.4214G>A (p.Arg1405His) c.3944G>A (p.Arg1315His) c.3296G>A (p.Arg1099His) c.4016G>A (p.Arg1339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.50185813G>A | CA400191518 | COL1A1 | c.4213C>T (p.Arg1405Cys) c.3943C>T (p.Arg1315Cys) c.3295C>T (p.Arg1099Cys) c.4015C>T (p.Arg1339Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185813G>C | CA400191521 | COL1A1 | c.4213C>G (p.Arg1405Gly) c.3943C>G (p.Arg1315Gly) c.3295C>G (p.Arg1099Gly) c.4015C>G (p.Arg1339Gly) | |
| 17 | g.50185813G= | CA2263913861 | COL1A1 | c.4213C= (p.Arg1405=) c.3943C= (p.Arg1315=) c.3295C= (p.Arg1099=) c.4015C= (p.Arg1339=) | |
| 17 | g.50185813G>T | CA400191524 | COL1A1 | c.4213C>A (p.Arg1405Ser) c.3943C>A (p.Arg1315Ser) c.3295C>A (p.Arg1099Ser) c.4015C>A (p.Arg1339Ser) | ClinVar |
| 17 | g.50185814G>A | CA8644227 | COL1A1 | c.4212C>T (p.Ser1404=) c.3942C>T (p.Ser1314=) c.3294C>T (p.Ser1098=) c.4014C>T (p.Ser1338=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185814G>C | CA400191529 | COL1A1 | c.4212C>G (p.Ser1404Arg) c.3942C>G (p.Ser1314Arg) c.3294C>G (p.Ser1098Arg) c.4014C>G (p.Ser1338Arg) | |
| 17 | g.50185814G= | CA2263913862 | COL1A1 | c.4212C= (p.Ser1404=) c.3942C= (p.Ser1314=) c.3294C= (p.Ser1098=) c.4014C= (p.Ser1338=) | |
| 17 | g.50185814G>T | CA400191527 | COL1A1 | c.4212C>A (p.Ser1404Arg) c.3942C>A (p.Ser1314Arg) c.3294C>A (p.Ser1098Arg) c.4014C>A (p.Ser1338Arg) | gnomAD v4 |
| 17 | g.50185815C>A | CA400191532 | COL1A1 | c.4211G>T (p.Ser1404Ile) c.3941G>T (p.Ser1314Ile) c.3293G>T (p.Ser1098Ile) c.4013G>T (p.Ser1338Ile) | |
| 17 | g.50185815C= | CA2263913863 | COL1A1 | c.4211G= (p.Ser1404=) c.3941G= (p.Ser1314=) c.3293G= (p.Ser1098=) c.4013G= (p.Ser1338=) | |
| 17 | g.50185815C>G | CA400191533 | COL1A1 | c.4211G>C (p.Ser1404Thr) c.3941G>C (p.Ser1314Thr) c.3293G>C (p.Ser1098Thr) c.4013G>C (p.Ser1338Thr) | |
| 17 | g.50185815C>T | CA8644228 | COL1A1 | c.4211G>A (p.Ser1404Asn) c.3941G>A (p.Ser1314Asn) c.3293G>A (p.Ser1098Asn) c.4013G>A (p.Ser1338Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185816T>A | CA400191540 | COL1A1 | c.4210A>T (p.Ser1404Cys) c.3940A>T (p.Ser1314Cys) c.3292A>T (p.Ser1098Cys) c.4012A>T (p.Ser1338Cys) | |
| 17 | g.50185816T>C | CA8644229 | COL1A1 | c.4210A>G (p.Ser1404Gly) c.3940A>G (p.Ser1314Gly) c.3292A>G (p.Ser1098Gly) c.4012A>G (p.Ser1338Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185816T>G | CA400191546 | COL1A1 | c.4210A>C (p.Ser1404Arg) c.3940A>C (p.Ser1314Arg) c.3292A>C (p.Ser1098Arg) c.4012A>C (p.Ser1338Arg) | |
| 17 | g.50185816T= | CA2263913864 | COL1A1 | c.4210A= (p.Ser1404=) c.3940A= (p.Ser1314=) c.3292A= (p.Ser1098=) c.4012A= (p.Ser1338=) | |
| 17 | g.50185817G>A | CA291542791 | COL1A1 | c.4209C>T (p.Asn1403=) c.3939C>T (p.Asn1313=) c.3291C>T (p.Asn1097=) c.4011C>T (p.Asn1337=) | dbSNP gnomAD v4 |
| 17 | g.50185817G>C | CA400191552 | COL1A1 | c.4209C>G (p.Asn1403Lys) c.3939C>G (p.Asn1313Lys) c.3291C>G (p.Asn1097Lys) c.4011C>G (p.Asn1337Lys) | |
| 17 | g.50185817G= | CA2263913865 | COL1A1 | c.4209C= (p.Asn1403=) c.3939C= (p.Asn1313=) c.3291C= (p.Asn1097=) c.4011C= (p.Asn1337=) | |
| 17 | g.50185817G>T | CA400191555 | COL1A1 | c.4209C>A (p.Asn1403Lys) c.3939C>A (p.Asn1313Lys) c.3291C>A (p.Asn1097Lys) c.4011C>A (p.Asn1337Lys) | |
| 17 | g.50185817_50185818insGGG | CA291542790 | COL1A1 | c.4209_4210insCCC (p.Asn1403_Ser1404insPro) c.3939_3940insCCC (p.Asn1313_Ser1314insPro) c.3291_3292insCCC (p.Asn1097_Ser1098insPro) c.4011_4012insCCC (p.Asn1337_Ser1338insPro) | dbSNP |
| 17 | g.50185818T>A | CA400191559 | COL1A1 | c.4208A>T (p.Asn1403Ile) c.3938A>T (p.Asn1313Ile) c.3290A>T (p.Asn1097Ile) c.4010A>T (p.Asn1337Ile) | |
| 17 | g.50185818T>C | CA400191563 | COL1A1 | c.4208A>G (p.Asn1403Ser) c.3938A>G (p.Asn1313Ser) c.3290A>G (p.Asn1097Ser) c.4010A>G (p.Asn1337Ser) | |
| 17 | g.50185818T>G | CA8644230 | COL1A1 | c.4208A>C (p.Asn1403Thr) c.3938A>C (p.Asn1313Thr) c.3290A>C (p.Asn1097Thr) c.4010A>C (p.Asn1337Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185818T= | CA2263913866 | COL1A1 | c.4208A= (p.Asn1403=) c.3938A= (p.Asn1313=) c.3290A= (p.Asn1097=) c.4010A= (p.Asn1337=) | |
| 17 | g.50185819T>A | CA400191575 | COL1A1 | c.4207A>T (p.Asn1403Tyr) c.3937A>T (p.Asn1313Tyr) c.3289A>T (p.Asn1097Tyr) c.4009A>T (p.Asn1337Tyr) | |
| 17 | g.50185819T>C | CA400191581 | COL1A1 | c.4207A>G (p.Asn1403Asp) c.3937A>G (p.Asn1313Asp) c.3289A>G (p.Asn1097Asp) c.4009A>G (p.Asn1337Asp) | |
| 17 | g.50185819T>G | CA400191579 | COL1A1 | c.4207A>C (p.Asn1403His) c.3937A>C (p.Asn1313His) c.3289A>C (p.Asn1097His) c.4009A>C (p.Asn1337His) | |
| 17 | g.50185820G>A | CA500991601 | COL1A1 | c.4206C>T (p.Gly1402=) c.3936C>T (p.Gly1312=) c.3288C>T (p.Gly1096=) c.4008C>T (p.Gly1336=) | |
| 17 | g.50185820G>C | CA500991599 | COL1A1 | c.4206C>G (p.Gly1402=) c.3936C>G (p.Gly1312=) c.3288C>G (p.Gly1096=) c.4008C>G (p.Gly1336=) | |
| 17 | g.50185820G>T | CA500991594 | COL1A1 | c.4206C>A (p.Gly1402=) c.3936C>A (p.Gly1312=) c.3288C>A (p.Gly1096=) c.4008C>A (p.Gly1336=) | |
| 17 | g.50185821_50185957dup | CA2697560244 | COL1A1 | c.4070_4206dup (p.Asn1403Ter) c.3800_3936dup (p.Asn1313Ter) c.3152_3288dup (p.Asn1097Ter) c.3872_4008dup (p.Asn1337Ter) | ClinVar |
| 17 | g.50185821C>A | CA400191586 | COL1A1 | c.4205G>T (p.Gly1402Val) c.3935G>T (p.Gly1312Val) c.3287G>T (p.Gly1096Val) c.4007G>T (p.Gly1336Val) | |
| 17 | g.50185821C>G | CA400191591 | COL1A1 | c.4205G>C (p.Gly1402Ala) c.3935G>C (p.Gly1312Ala) c.3287G>C (p.Gly1096Ala) c.4007G>C (p.Gly1336Ala) | |
| 17 | g.50185821C>T | CA400191588 | COL1A1 | c.4205G>A (p.Gly1402Asp) c.3935G>A (p.Gly1312Asp) c.3287G>A (p.Gly1096Asp) c.4007G>A (p.Gly1336Asp) | |
| 17 | g.50185822C>A | CA400191594 | COL1A1 | c.4204G>T (p.Gly1402Cys) c.3934G>T (p.Gly1312Cys) c.3286G>T (p.Gly1096Cys) c.4006G>T (p.Gly1336Cys) | |
| 17 | g.50185822C>G | CA400191597 | COL1A1 | c.4204G>C (p.Gly1402Arg) c.3934G>C (p.Gly1312Arg) c.3286G>C (p.Gly1096Arg) c.4006G>C (p.Gly1336Arg) | |
| 17 | g.50185822C>T | CA400191595 | COL1A1 | c.4204G>A (p.Gly1402Ser) c.3934G>A (p.Gly1312Ser) c.3286G>A (p.Gly1096Ser) c.4006G>A (p.Gly1336Ser) | gnomAD v4 |
| 17 | g.50185823C>A | CA400191601 | COL1A1 | c.4203G>T (p.Glu1401Asp) c.3933G>T (p.Glu1311Asp) c.3285G>T (p.Glu1095Asp) c.4005G>T (p.Glu1335Asp) | |
| 17 | g.50185823C= | CA2263913867 | COL1A1 | c.4203G= (p.Glu1401=) c.3933G= (p.Glu1311=) c.3285G= (p.Glu1095=) c.4005G= (p.Glu1335=) | |
| 17 | g.50185823C>G | CA400191602 | COL1A1 | c.4203G>C (p.Glu1401Asp) c.3933G>C (p.Glu1311Asp) c.3285G>C (p.Glu1095Asp) c.4005G>C (p.Glu1335Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185823C>T | CA500991602 | COL1A1 | c.4203G>A (p.Glu1401=) c.3933G>A (p.Glu1311=) c.3285G>A (p.Glu1095=) c.4005G>A (p.Glu1335=) | dbSNP gnomAD v4 |
| 17 | g.50185824T>A | CA400191605 | COL1A1 | c.4202A>T (p.Glu1401Val) c.3932A>T (p.Glu1311Val) c.3284A>T (p.Glu1095Val) c.4004A>T (p.Glu1335Val) | |
| 17 | g.50185824T>C | CA400191610 | COL1A1 | c.4202A>G (p.Glu1401Gly) c.3932A>G (p.Glu1311Gly) c.3284A>G (p.Glu1095Gly) c.4004A>G (p.Glu1335Gly) | |
| 17 | g.50185824T>G | CA400191607 | COL1A1 | c.4202A>C (p.Glu1401Ala) c.3932A>C (p.Glu1311Ala) c.3284A>C (p.Glu1095Ala) c.4004A>C (p.Glu1335Ala) | |
| 17 | g.50185825C>A | CA400191614 | COL1A1 | c.4201G>T (p.Glu1401Ter) c.3931G>T (p.Glu1311Ter) c.3283G>T (p.Glu1095Ter) c.4003G>T (p.Glu1335Ter) | ClinVar |
| 17 | g.50185825C= | CA2263913868 | COL1A1 | c.4201G= (p.Glu1401=) c.3931G= (p.Glu1311=) c.3283G= (p.Glu1095=) c.4003G= (p.Glu1335=) | |
| 17 | g.50185825C>G | CA400191619 | COL1A1 | c.4201G>C (p.Glu1401Gln) c.3931G>C (p.Glu1311Gln) c.3283G>C (p.Glu1095Gln) c.4003G>C (p.Glu1335Gln) | |
| 17 | g.50185825C>T | CA8644231 | COL1A1 | c.4201G>A (p.Glu1401Lys) c.3931G>A (p.Glu1311Lys) c.3283G>A (p.Glu1095Lys) c.4003G>A (p.Glu1335Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.50185826G>A | CA8644232 | COL1A1 | c.4200C>T (p.Ala1400=) c.3930C>T (p.Ala1310=) c.3282C>T (p.Ala1094=) c.4002C>T (p.Ala1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185826G>C | CA500991606 | COL1A1 | c.4200C>G (p.Ala1400=) c.3930C>G (p.Ala1310=) c.3282C>G (p.Ala1094=) c.4002C>G (p.Ala1334=) | |
| 17 | g.50185826G= | CA2263913869 | COL1A1 | c.4200C= (p.Ala1400=) c.3930C= (p.Ala1310=) c.3282C= (p.Ala1094=) c.4002C= (p.Ala1334=) | |
| 17 | g.50185826G>T | CA500991607 | COL1A1 | c.4200C>A (p.Ala1400=) c.3930C>A (p.Ala1310=) c.3282C>A (p.Ala1094=) c.4002C>A (p.Ala1334=) | gnomAD v4 COSMIC |
| 17 | g.50185827G>A | CA400191624 | COL1A1 | c.4199C>T (p.Ala1400Val) c.3929C>T (p.Ala1310Val) c.3281C>T (p.Ala1094Val) c.4001C>T (p.Ala1334Val) | |
| 17 | g.50185827G>C | CA400191627 | COL1A1 | c.4199C>G (p.Ala1400Gly) c.3929C>G (p.Ala1310Gly) c.3281C>G (p.Ala1094Gly) c.4001C>G (p.Ala1334Gly) | dbSNP |
| 17 | g.50185827G= | CA2263913870 | COL1A1 | c.4199C= (p.Ala1400=) c.3929C= (p.Ala1310=) c.3281C= (p.Ala1094=) c.4001C= (p.Ala1334=) | |
| 17 | g.50185827G>T | CA400191629 | COL1A1 | c.4199C>A (p.Ala1400Asp) c.3929C>A (p.Ala1310Asp) c.3281C>A (p.Ala1094Asp) c.4001C>A (p.Ala1334Asp) | ClinVar dbSNP |
| 17 | g.50185828C>A | CA400191634 | COL1A1 | c.4198G>T (p.Ala1400Ser) c.3928G>T (p.Ala1310Ser) c.3280G>T (p.Ala1094Ser) c.4000G>T (p.Ala1334Ser) | |
| 17 | g.50185828C= | CA2263913871 | COL1A1 | c.4198G= (p.Ala1400=) c.3928G= (p.Ala1310=) c.3280G= (p.Ala1094=) c.4000G= (p.Ala1334=) | |
| 17 | g.50185828C>G | CA8644233 | COL1A1 | c.4198G>C (p.Ala1400Pro) c.3928G>C (p.Ala1310Pro) c.3280G>C (p.Ala1094Pro) c.4000G>C (p.Ala1334Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185828C>T | CA400191639 | COL1A1 | c.4198G>A (p.Ala1400Thr) c.3928G>A (p.Ala1310Thr) c.3280G>A (p.Ala1094Thr) c.4000G>A (p.Ala1334Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185829G>A | CA8644234 | COL1A1 | c.4197C>T (p.Arg1399=) c.3927C>T (p.Arg1309=) c.3279C>T (p.Arg1093=) c.3999C>T (p.Arg1333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185829G>C | CA500991608 | COL1A1 | c.4197C>G (p.Arg1399=) c.3927C>G (p.Arg1309=) c.3279C>G (p.Arg1093=) c.3999C>G (p.Arg1333=) | dbSNP |
| 17 | g.50185829G= | CA2263913872 | COL1A1 | c.4197C= (p.Arg1399=) c.3927C= (p.Arg1309=) c.3279C= (p.Arg1093=) c.3999C= (p.Arg1333=) | |
| 17 | g.50185829G>T | CA500991609 | COL1A1 | c.4197C>A (p.Arg1399=) c.3927C>A (p.Arg1309=) c.3279C>A (p.Arg1093=) c.3999C>A (p.Arg1333=) | |
| 17 | g.50185830C>A | CA400191651 | COL1A1 | c.4196G>T (p.Arg1399Leu) c.3926G>T (p.Arg1309Leu) c.3278G>T (p.Arg1093Leu) c.3998G>T (p.Arg1333Leu) | |
| 17 | g.50185830C= | CA2263913873 | COL1A1 | c.4196G= (p.Arg1399=) c.3926G= (p.Arg1309=) c.3278G= (p.Arg1093=) c.3998G= (p.Arg1333=) | |
| 17 | g.50185830C>G | CA400191648 | COL1A1 | c.4196G>C (p.Arg1399Pro) c.3926G>C (p.Arg1309Pro) c.3278G>C (p.Arg1093Pro) c.3998G>C (p.Arg1333Pro) | |
| 17 | g.50185830C>T | CA8644235 | COL1A1 | c.4196G>A (p.Arg1399His) c.3926G>A (p.Arg1309His) c.3278G>A (p.Arg1093His) c.3998G>A (p.Arg1333His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185831G>A | CA8644236 | COL1A1 | c.4195C>T (p.Arg1399Cys) c.3925C>T (p.Arg1309Cys) c.3277C>T (p.Arg1093Cys) c.3997C>T (p.Arg1333Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185831G>C | CA400191657 | COL1A1 | c.4195C>G (p.Arg1399Gly) c.3925C>G (p.Arg1309Gly) c.3277C>G (p.Arg1093Gly) c.3997C>G (p.Arg1333Gly) | |
| 17 | g.50185831G= | CA2263913874 | COL1A1 | c.4195C= (p.Arg1399=) c.3925C= (p.Arg1309=) c.3277C= (p.Arg1093=) c.3997C= (p.Arg1333=) | |
| 17 | g.50185831G>T | CA400191660 | COL1A1 | c.4195C>A (p.Arg1399Ser) c.3925C>A (p.Arg1309Ser) c.3277C>A (p.Arg1093Ser) c.3997C>A (p.Arg1333Ser) | dbSNP |
| 17 | g.50185832G>A | CA500991615 | COL1A1 | c.4194C>T (p.Ile1398=) c.3924C>T (p.Ile1308=) c.3276C>T (p.Ile1092=) c.3996C>T (p.Ile1332=) | |
| 17 | g.50185832G>C | CA400191664 | COL1A1 | c.4194C>G (p.Ile1398Met) c.3924C>G (p.Ile1308Met) c.3276C>G (p.Ile1092Met) c.3996C>G (p.Ile1332Met) | |
| 17 | g.50185832G>T | CA500991617 | COL1A1 | c.4194C>A (p.Ile1398=) c.3924C>A (p.Ile1308=) c.3276C>A (p.Ile1092=) c.3996C>A (p.Ile1332=) | |
| 17 | g.50185833A>C | CA400191667 | COL1A1 | c.4193T>G (p.Ile1398Ser) c.3923T>G (p.Ile1308Ser) c.3275T>G (p.Ile1092Ser) c.3995T>G (p.Ile1332Ser) | ClinVar |
| 17 | g.50185833A>G | CA400191669 | COL1A1 | c.4193T>C (p.Ile1398Thr) c.3923T>C (p.Ile1308Thr) c.3275T>C (p.Ile1092Thr) c.3995T>C (p.Ile1332Thr) | |
| 17 | g.50185833A>T | CA400191671 | COL1A1 | c.4193T>A (p.Ile1398Asn) c.3923T>A (p.Ile1308Asn) c.3275T>A (p.Ile1092Asn) c.3995T>A (p.Ile1332Asn) | |
| 17 | g.50185834T>A | CA8644237 | COL1A1 | c.4192A>T (p.Ile1398Phe) c.3922A>T (p.Ile1308Phe) c.3274A>T (p.Ile1092Phe) c.3994A>T (p.Ile1332Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185834T>C | CA400191675 | COL1A1 | c.4192A>G (p.Ile1398Val) c.3922A>G (p.Ile1308Val) c.3274A>G (p.Ile1092Val) c.3994A>G (p.Ile1332Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185834T>G | CA400191677 | COL1A1 | c.4192A>C (p.Ile1398Leu) c.3922A>C (p.Ile1308Leu) c.3274A>C (p.Ile1092Leu) c.3994A>C (p.Ile1332Leu) | dbSNP |
| 17 | g.50185834T= | CA2263913875 | COL1A1 | c.4192A= (p.Ile1398=) c.3922A= (p.Ile1308=) c.3274A= (p.Ile1092=) c.3994A= (p.Ile1332=) | |
| 17 | g.50185835C>A | CA400191680 | COL1A1 | c.4191G>T (p.Glu1397Asp) c.3921G>T (p.Glu1307Asp) c.3273G>T (p.Glu1091Asp) c.3993G>T (p.Glu1331Asp) | ClinVar |
| 17 | g.50185835C>G | CA400191683 | COL1A1 | c.4191G>C (p.Glu1397Asp) c.3921G>C (p.Glu1307Asp) c.3273G>C (p.Glu1091Asp) c.3993G>C (p.Glu1331Asp) | |
| 17 | g.50185835C>T | CA500991621 | COL1A1 | c.4191G>A (p.Glu1397=) c.3921G>A (p.Glu1307=) c.3273G>A (p.Glu1091=) c.3993G>A (p.Glu1331=) | gnomAD v4 |
| 17 | g.50185836T>A | CA400191687 | COL1A1 | c.4190A>T (p.Glu1397Val) c.3920A>T (p.Glu1307Val) c.3272A>T (p.Glu1091Val) c.3992A>T (p.Glu1331Val) | |
| 17 | g.50185836T>C | CA400191686 | COL1A1 | c.4190A>G (p.Glu1397Gly) c.3920A>G (p.Glu1307Gly) c.3272A>G (p.Glu1091Gly) c.3992A>G (p.Glu1331Gly) | |
| 17 | g.50185836T>G | CA400191685 | COL1A1 | c.4190A>C (p.Glu1397Ala) c.3920A>C (p.Glu1307Ala) c.3272A>C (p.Glu1091Ala) c.3992A>C (p.Glu1331Ala) | |
| 17 | g.50185837C>A | CA400191688 | COL1A1 | c.4189G>T (p.Glu1397Ter) c.3919G>T (p.Glu1307Ter) c.3271G>T (p.Glu1091Ter) c.3991G>T (p.Glu1331Ter) | ClinVar dbSNP |
| 17 | g.50185837C= | CA2263913876 | COL1A1 | c.4189G= (p.Glu1397=) c.3919G= (p.Glu1307=) c.3271G= (p.Glu1091=) c.3991G= (p.Glu1331=) | |
| 17 | g.50185837C>G | CA291542792 | COL1A1 | c.4189G>C (p.Glu1397Gln) c.3919G>C (p.Glu1307Gln) c.3271G>C (p.Glu1091Gln) c.3991G>C (p.Glu1331Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185837C>T | CA400191690 | COL1A1 | c.4189G>A (p.Glu1397Lys) c.3919G>A (p.Glu1307Lys) c.3271G>A (p.Glu1091Lys) c.3991G>A (p.Glu1331Lys) | ClinVar gnomAD v4 |
| 17 | g.50185838G>A | CA8644238 | COL1A1 | c.4188C>T (p.Ile1396=) c.3918C>T (p.Ile1306=) c.3270C>T (p.Ile1090=) c.3990C>T (p.Ile1330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185838G>C | CA400191694 | COL1A1 | c.4188C>G (p.Ile1396Met) c.3918C>G (p.Ile1306Met) c.3270C>G (p.Ile1090Met) c.3990C>G (p.Ile1330Met) | gnomAD v4 |
| 17 | g.50185838G= | CA2263913877 | COL1A1 | c.4188C= (p.Ile1396=) c.3918C= (p.Ile1306=) c.3270C= (p.Ile1090=) c.3990C= (p.Ile1330=) | |
| 17 | g.50185838G>T | CA500991627 | COL1A1 | c.4188C>A (p.Ile1396=) c.3918C>A (p.Ile1306=) c.3270C>A (p.Ile1090=) c.3990C>A (p.Ile1330=) | |
| 17 | g.50185839A= | CA2263913878 | COL1A1 | c.4187T= (p.Ile1396=) c.3917T= (p.Ile1306=) c.3269T= (p.Ile1090=) c.3989T= (p.Ile1330=) | |
| 17 | g.50185839A>C | CA400191695 | COL1A1 | c.4187T>G (p.Ile1396Ser) c.3917T>G (p.Ile1306Ser) c.3269T>G (p.Ile1090Ser) c.3989T>G (p.Ile1330Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50185839A>G | CA400191698 | COL1A1 | c.4187T>C (p.Ile1396Thr) c.3917T>C (p.Ile1306Thr) c.3269T>C (p.Ile1090Thr) c.3989T>C (p.Ile1330Thr) | |
| 17 | g.50185839A>T | CA400191699 | COL1A1 | c.4187T>A (p.Ile1396Asn) c.3917T>A (p.Ile1306Asn) c.3269T>A (p.Ile1090Asn) c.3989T>A (p.Ile1330Asn) | |
| 17 | g.50185840T>A | CA400191701 | COL1A1 | c.4186A>T (p.Ile1396Phe) c.3916A>T (p.Ile1306Phe) c.3268A>T (p.Ile1090Phe) c.3988A>T (p.Ile1330Phe) | |
| 17 | g.50185840T>C | CA400191703 | COL1A1 | c.4186A>G (p.Ile1396Val) c.3916A>G (p.Ile1306Val) c.3268A>G (p.Ile1090Val) c.3988A>G (p.Ile1330Val) | |
| 17 | g.50185840T>G | CA400191706 | COL1A1 | c.4186A>C (p.Ile1396Leu) c.3916A>C (p.Ile1306Leu) c.3268A>C (p.Ile1090Leu) c.3988A>C (p.Ile1330Leu) | |
| 17 | g.50185841C>A | CA400191709 | COL1A1 | c.4185G>T (p.Glu1395Asp) c.3915G>T (p.Glu1305Asp) c.3267G>T (p.Glu1089Asp) c.3987G>T (p.Glu1329Asp) | |
| 17 | g.50185841C>G | CA400191711 | COL1A1 | c.4185G>C (p.Glu1395Asp) c.3915G>C (p.Glu1305Asp) c.3267G>C (p.Glu1089Asp) c.3987G>C (p.Glu1329Asp) | |
| 17 | g.50185841C>T | CA500991630 | COL1A1 | c.4185G>A (p.Glu1395=) c.3915G>A (p.Glu1305=) c.3267G>A (p.Glu1089=) c.3987G>A (p.Glu1329=) | |
| 17 | g.50185842T>A | CA400191718 | COL1A1 | c.4184A>T (p.Glu1395Val) c.3914A>T (p.Glu1305Val) c.3266A>T (p.Glu1089Val) c.3986A>T (p.Glu1329Val) | |
| 17 | g.50185842T>C | CA400191714 | COL1A1 | c.4184A>G (p.Glu1395Gly) c.3914A>G (p.Glu1305Gly) c.3266A>G (p.Glu1089Gly) c.3986A>G (p.Glu1329Gly) | |
| 17 | g.50185842T>G | CA400191716 | COL1A1 | c.4184A>C (p.Glu1395Ala) c.3914A>C (p.Glu1305Ala) c.3266A>C (p.Glu1089Ala) c.3986A>C (p.Glu1329Ala) | |
| 17 | g.50185843C>A | CA400191720 | COL1A1 | c.4183G>T (p.Glu1395Ter) c.3913G>T (p.Glu1305Ter) c.3265G>T (p.Glu1089Ter) c.3985G>T (p.Glu1329Ter) | ClinVar COSMIC |
| 17 | g.50185843C= | CA2263913879 | COL1A1 | c.4183G= (p.Glu1395=) c.3913G= (p.Glu1305=) c.3265G= (p.Glu1089=) c.3985G= (p.Glu1329=) | |
| 17 | g.50185843C>G | CA400191722 | COL1A1 | c.4183G>C (p.Glu1395Gln) c.3913G>C (p.Glu1305Gln) c.3265G>C (p.Glu1089Gln) c.3985G>C (p.Glu1329Gln) | |
| 17 | g.50185843C>T | CA8644239 | COL1A1 | c.4183G>A (p.Glu1395Lys) c.3913G>A (p.Glu1305Lys) c.3265G>A (p.Glu1089Lys) c.3985G>A (p.Glu1329Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185843_50185846delinsCGTT | CA2263913880 | COL1A1 | c.4180_4183delinsAACG (p.Asn1394=) c.3910_3913delinsAACG (p.Asn1304=) c.3262_3265delinsAACG (p.Asn1088=) c.3982_3985delinsAACG (p.Asn1328=) | |
| 17 | g.50185844G>A | CA8644240 | COL1A1 | c.4182C>T (p.Asn1394=) n.1147C>T c.3912C>T (p.Asn1304=) c.3264C>T (p.Asn1088=) c.3984C>T (p.Asn1328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185844G>C | CA400191728 | COL1A1 | c.4182C>G (p.Asn1394Lys) n.1147C>G c.3912C>G (p.Asn1304Lys) c.3264C>G (p.Asn1088Lys) c.3984C>G (p.Asn1328Lys) | |
| 17 | g.50185844G= | CA2263913881 | COL1A1 | c.4182C= (p.Asn1394=) n.1147C= c.3912C= (p.Asn1304=) c.3264C= (p.Asn1088=) c.3984C= (p.Asn1328=) | |
| 17 | g.50185844G>T | CA8644241 | COL1A1 | c.4182C>A (p.Asn1394Lys) n.1147C>A c.3912C>A (p.Asn1304Lys) c.3264C>A (p.Asn1088Lys) c.3984C>A (p.Asn1328Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185845_50185847del | CA984452345 | COL1A1 | c.4180_4182del (p.Asn1394del) n.1145_1147del c.3910_3912del (p.Asn1304del) c.3262_3264del (p.Asn1088del) c.3982_3984del (p.Asn1328del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.50185845T>A | CA400191732 | COL1A1 | c.4181A>T (p.Asn1394Ile) n.1146A>T c.3911A>T (p.Asn1304Ile) c.3263A>T (p.Asn1088Ile) c.3983A>T (p.Asn1328Ile) | |
| 17 | g.50185845T>C | CA8644242 | COL1A1 | c.4181A>G (p.Asn1394Ser) n.1146A>G c.3911A>G (p.Asn1304Ser) c.3263A>G (p.Asn1088Ser) c.3983A>G (p.Asn1328Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185845T>G | CA400191734 | COL1A1 | c.4181A>C (p.Asn1394Thr) n.1146A>C c.3911A>C (p.Asn1304Thr) c.3263A>C (p.Asn1088Thr) c.3983A>C (p.Asn1328Thr) | |
| 17 | g.50185845T= | CA2263913882 | COL1A1 | c.4181A= (p.Asn1394=) n.1146A= c.3911A= (p.Asn1304=) c.3263A= (p.Asn1088=) c.3983A= (p.Asn1328=) | |
| 17 | g.50185846T>A | CA400191736 | COL1A1 | c.4180A>T (p.Asn1394Tyr) n.1145A>T c.3910A>T (p.Asn1304Tyr) c.3262A>T (p.Asn1088Tyr) c.3982A>T (p.Asn1328Tyr) | |
| 17 | g.50185846T>C | CA400191738 | COL1A1 | c.4180A>G (p.Asn1394Asp) n.1145A>G c.3910A>G (p.Asn1304Asp) c.3262A>G (p.Asn1088Asp) c.3982A>G (p.Asn1328Asp) | |
| 17 | g.50185846T>G | CA400191739 | COL1A1 | c.4180A>C (p.Asn1394His) n.1145A>C c.3910A>C (p.Asn1304His) c.3262A>C (p.Asn1088His) c.3982A>C (p.Asn1328His) | |
| 17 | g.50185847G>A | CA8644243 | COL1A1 | c.4179C>T (p.Ser1393=) n.1144C>T c.3909C>T (p.Ser1303=) c.3261C>T (p.Ser1087=) c.3981C>T (p.Ser1327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185847G>C | CA500991640 | COL1A1 | c.4179C>G (p.Ser1393=) n.1144C>G c.3909C>G (p.Ser1303=) c.3261C>G (p.Ser1087=) c.3981C>G (p.Ser1327=) | |
| 17 | g.50185847G= | CA2263913883 | COL1A1 | c.4179C= (p.Ser1393=) n.1144C= c.3909C= (p.Ser1303=) c.3261C= (p.Ser1087=) c.3981C= (p.Ser1327=) | |
| 17 | g.50185847G>T | CA500991642 | COL1A1 | c.4179C>A (p.Ser1393=) n.1144C>A c.3909C>A (p.Ser1303=) c.3261C>A (p.Ser1087=) c.3981C>A (p.Ser1327=) | |
| 17 | g.50185848G>A | CA8644244 | COL1A1 | c.4178C>T (p.Ser1393Phe) n.1143C>T c.3908C>T (p.Ser1303Phe) c.3260C>T (p.Ser1087Phe) c.3980C>T (p.Ser1327Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185848G>C | CA400191740 | COL1A1 | c.4178C>G (p.Ser1393Cys) n.1143C>G c.3908C>G (p.Ser1303Cys) c.3260C>G (p.Ser1087Cys) c.3980C>G (p.Ser1327Cys) | |
| 17 | g.50185848G= | CA2263913884 | COL1A1 | c.4178C= (p.Ser1393=) n.1143C= c.3908C= (p.Ser1303=) c.3260C= (p.Ser1087=) c.3980C= (p.Ser1327=) | |
| 17 | g.50185848G>T | CA400191741 | COL1A1 | c.4178C>A (p.Ser1393Tyr) n.1143C>A c.3908C>A (p.Ser1303Tyr) c.3260C>A (p.Ser1087Tyr) c.3980C>A (p.Ser1327Tyr) | |
| 17 | g.50185849A= | CA2263913885 | COL1A1 | c.4177T= (p.Ser1393=) n.1142T= c.3907T= (p.Ser1303=) c.3259T= (p.Ser1087=) c.3979T= (p.Ser1327=) | |
| 17 | g.50185849A>C | CA400191742 | COL1A1 | c.4177T>G (p.Ser1393Ala) n.1142T>G c.3907T>G (p.Ser1303Ala) c.3259T>G (p.Ser1087Ala) c.3979T>G (p.Ser1327Ala) | dbSNP |
| 17 | g.50185849A>G | CA400191744 | COL1A1 | c.4177T>C (p.Ser1393Pro) n.1142T>C c.3907T>C (p.Ser1303Pro) c.3259T>C (p.Ser1087Pro) c.3979T>C (p.Ser1327Pro) | |
| 17 | g.50185849A>T | CA400191746 | COL1A1 | c.4177T>A (p.Ser1393Thr) n.1142T>A c.3907T>A (p.Ser1303Thr) c.3259T>A (p.Ser1087Thr) c.3979T>A (p.Ser1327Thr) | ClinVar gnomAD v4 |
| 17 | g.50185850G>A | CA8644245 | COL1A1 | c.4176C>T (p.Gly1392=) n.1141C>T c.3906C>T (p.Gly1302=) c.3258C>T (p.Gly1086=) c.3978C>T (p.Gly1326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185850G>C | CA500991646 | COL1A1 | c.4176C>G (p.Gly1392=) n.1141C>G c.3906C>G (p.Gly1302=) c.3258C>G (p.Gly1086=) c.3978C>G (p.Gly1326=) | |
| 17 | g.50185850G= | CA2263913886 | COL1A1 | c.4176C= (p.Gly1392=) n.1141C= c.3906C= (p.Gly1302=) c.3258C= (p.Gly1086=) c.3978C= (p.Gly1326=) | |
| 17 | g.50185850G>T | CA500991647 | COL1A1 | c.4176C>A (p.Gly1392=) n.1141C>A c.3906C>A (p.Gly1302=) c.3258C>A (p.Gly1086=) c.3978C>A (p.Gly1326=) | dbSNP |
| 17 | g.50185851C>A | CA400191753 | COL1A1 | c.4175G>T (p.Gly1392Val) n.1140G>T c.3905G>T (p.Gly1302Val) c.3257G>T (p.Gly1086Val) c.3977G>T (p.Gly1326Val) | |
| 17 | g.50185851C= | CA2263913887 | COL1A1 | c.4175G= (p.Gly1392=) n.1140G= c.3905G= (p.Gly1302=) c.3257G= (p.Gly1086=) c.3977G= (p.Gly1326=) | |
| 17 | g.50185851C>G | CA8644246 | COL1A1 | c.4175G>C (p.Gly1392Ala) n.1140G>C c.3905G>C (p.Gly1302Ala) c.3257G>C (p.Gly1086Ala) c.3977G>C (p.Gly1326Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185851C>T | CA400191751 | COL1A1 | c.4175G>A (p.Gly1392Asp) n.1140G>A c.3905G>A (p.Gly1302Asp) c.3257G>A (p.Gly1086Asp) c.3977G>A (p.Gly1326Asp) | |
| 17 | g.50185852C>A | CA400191756 | COL1A1 | c.4174G>T (p.Gly1392Cys) n.1139G>T c.3904G>T (p.Gly1302Cys) c.3256G>T (p.Gly1086Cys) c.3976G>T (p.Gly1326Cys) | |
| 17 | g.50185852C= | CA2263913888 | COL1A1 | c.4174G= (p.Gly1392=) n.1139G= c.3904G= (p.Gly1302=) c.3256G= (p.Gly1086=) c.3976G= (p.Gly1326=) | |
| 17 | g.50185852C>G | CA400191758 | COL1A1 | c.4174G>C (p.Gly1392Arg) n.1139G>C c.3904G>C (p.Gly1302Arg) c.3256G>C (p.Gly1086Arg) c.3976G>C (p.Gly1326Arg) | |
| 17 | g.50185852C>T | CA291542793 | COL1A1 | c.4174G>A (p.Gly1392Ser) n.1139G>A c.3904G>A (p.Gly1302Ser) c.3256G>A (p.Gly1086Ser) c.3976G>A (p.Gly1326Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185853C>A | CA400191762 | COL1A1 | c.4173G>T (p.Gln1391His) n.1138G>T c.3903G>T (p.Gln1301His) c.3255G>T (p.Gln1085His) c.3975G>T (p.Gln1325His) | |
| 17 | g.50185853C>G | CA400191764 | COL1A1 | c.4173G>C (p.Gln1391His) n.1138G>C c.3903G>C (p.Gln1301His) c.3255G>C (p.Gln1085His) c.3975G>C (p.Gln1325His) | |
| 17 | g.50185853C>T | CA500991654 | COL1A1 | c.4173G>A (p.Gln1391=) n.1138G>A c.3903G>A (p.Gln1301=) c.3255G>A (p.Gln1085=) c.3975G>A (p.Gln1325=) | |
| 17 | g.50185854T>A | CA400191767 | COL1A1 | c.4172A>T (p.Gln1391Leu) n.1137A>T c.3902A>T (p.Gln1301Leu) c.3254A>T (p.Gln1085Leu) c.3974A>T (p.Gln1325Leu) | |
| 17 | g.50185854T>C | CA8644247 | COL1A1 | c.4172A>G (p.Gln1391Arg) n.1137A>G c.3902A>G (p.Gln1301Arg) c.3254A>G (p.Gln1085Arg) c.3974A>G (p.Gln1325Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185854T>G | CA400191766 | COL1A1 | c.4172A>C (p.Gln1391Pro) n.1137A>C c.3902A>C (p.Gln1301Pro) c.3254A>C (p.Gln1085Pro) c.3974A>C (p.Gln1325Pro) | |
| 17 | g.50185854T= | CA2263913889 | COL1A1 | c.4172A= (p.Gln1391=) n.1137A= c.3902A= (p.Gln1301=) c.3254A= (p.Gln1085=) c.3974A= (p.Gln1325=) | |
| 17 | g.50185855G>A | CA400191768 | COL1A1 | c.4171C>T (p.Gln1391Ter) n.1136C>T c.3901C>T (p.Gln1301Ter) c.3253C>T (p.Gln1085Ter) c.3973C>T (p.Gln1325Ter) | ClinVar dbSNP |
| 17 | g.50185855G>C | CA400191770 | COL1A1 | c.4171C>G (p.Gln1391Glu) n.1136C>G c.3901C>G (p.Gln1301Glu) c.3253C>G (p.Gln1085Glu) c.3973C>G (p.Gln1325Glu) | |
| 17 | g.50185855G= | CA2263913890 | COL1A1 | c.4171C= (p.Gln1391=) n.1136C= c.3901C= (p.Gln1301=) c.3253C= (p.Gln1085=) c.3973C= (p.Gln1325=) | |
| 17 | g.50185855G>T | CA291542794 | COL1A1 | c.4171C>A (p.Gln1391Lys) n.1136C>A c.3901C>A (p.Gln1301Lys) c.3253C>A (p.Gln1085Lys) c.3973C>A (p.Gln1325Lys) | dbSNP |
| 17 | g.50185856G>A | CA8644248 | COL1A1 | c.4170C>T (p.Leu1390=) n.1135C>T c.3900C>T (p.Leu1300=) c.3252C>T (p.Leu1084=) c.3972C>T (p.Leu1324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.50185856G>C | CA500991656 | COL1A1 | c.4170C>G (p.Leu1390=) n.1135C>G c.3900C>G (p.Leu1300=) c.3252C>G (p.Leu1084=) c.3972C>G (p.Leu1324=) | |
| 17 | g.50185856G= | CA2263913891 | COL1A1 | c.4170C= (p.Leu1390=) n.1135C= c.3900C= (p.Leu1300=) c.3252C= (p.Leu1084=) c.3972C= (p.Leu1324=) | |
| 17 | g.50185856G>T | CA500991657 | COL1A1 | c.4170C>A (p.Leu1390=) n.1135C>A c.3900C>A (p.Leu1300=) c.3252C>A (p.Leu1084=) c.3972C>A (p.Leu1324=) | |
| 17 | g.50185857A>C | CA400191772 | COL1A1 | c.4169T>G (p.Leu1390Arg) n.1134T>G c.3899T>G (p.Leu1300Arg) c.3251T>G (p.Leu1084Arg) c.3971T>G (p.Leu1324Arg) | |
| 17 | g.50185857A>G | CA400191774 | COL1A1 | c.4169T>C (p.Leu1390Pro) n.1134T>C c.3899T>C (p.Leu1300Pro) c.3251T>C (p.Leu1084Pro) c.3971T>C (p.Leu1324Pro) | |
| 17 | g.50185857A>T | CA400191775 | COL1A1 | c.4169T>A (p.Leu1390His) n.1134T>A c.3899T>A (p.Leu1300His) c.3251T>A (p.Leu1084His) c.3971T>A (p.Leu1324His) | |
| 17 | g.50185858G>A | CA8644249 | COL1A1 | c.4168C>T (p.Leu1390Phe) n.1133C>T c.3898C>T (p.Leu1300Phe) c.3250C>T (p.Leu1084Phe) c.3970C>T (p.Leu1324Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.50185858G>C | CA400191785 | COL1A1 | c.4168C>G (p.Leu1390Val) n.1133C>G c.3898C>G (p.Leu1300Val) c.3250C>G (p.Leu1084Val) c.3970C>G (p.Leu1324Val) | |
| 17 | g.50185858G= | CA2263913892 | COL1A1 | c.4168C= (p.Leu1390=) n.1133C= c.3898C= (p.Leu1300=) c.3250C= (p.Leu1084=) c.3970C= (p.Leu1324=) | |
| 17 | g.50185858G>T | CA400191787 | COL1A1 | c.4168C>A (p.Leu1390Ile) n.1133C>A c.3898C>A (p.Leu1300Ile) c.3250C>A (p.Leu1084Ile) c.3970C>A (p.Leu1324Ile) |